Mutagenetix > Incidental Mutation

Incidental Mutation 'R9185:Pkhd1l1'

697340

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1l1

Ensembl Gene

ENSMUSG00000038725

Gene Name

polycystic kidney and hepatic disease 1-like 1

Synonyms

fibrocystin L, D86 mRNA, PKHDL1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44320890-44464765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44453019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 3981 (S3981R)

Ref Sequence

ENSEMBL: ENSMUSP00000036988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038336] [ENSMUST00000166957] [ENSMUST00000209244]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038336
AA Change: S3981R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: S3981R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IPT	30	141	9.02e-3	SMART
Pfam:TIG	146	255	1.6e-16	PFAM
IPT	269	362	2.27e-8	SMART
PbH1	398	420	2.98e3	SMART
IPT	1066	1154	5.34e-5	SMART
IPT	1156	1235	1.44e-1	SMART
Pfam:TIG	1240	1322	1.1e-13	PFAM
IPT	1328	1407	7.06e0	SMART
Pfam:TIG	1565	1645	5.1e-11	PFAM
IPT	1657	1743	1.89e-5	SMART
Pfam:TIG	1748	1828	2.1e-10	PFAM
IPT	1829	1910	4.87e-8	SMART
IPT	1914	1997	6.84e-3	SMART
IPT	1998	2085	9.86e-1	SMART
IPT	2089	2176	7.21e-11	SMART
PbH1	2105	2126	1.56e3	SMART
G8	2183	2303	2.37e-59	SMART
PbH1	2484	2506	9.48e3	SMART
PbH1	2507	2529	8.45e2	SMART
PbH1	2565	2587	4.11e3	SMART
PbH1	2664	2686	3.5e3	SMART
PbH1	2732	2755	2.7e3	SMART
Blast:G8	2949	2979	1e-5	BLAST
low complexity region	3014	3025	N/A	INTRINSIC
G8	3035	3173	6.5e-57	SMART
PbH1	3292	3314	1.96e3	SMART
PbH1	3354	3376	3.79e1	SMART
PbH1	3415	3437	4.87e2	SMART
PbH1	3470	3492	8.34e3	SMART
PbH1	3493	3514	5.86e3	SMART
low complexity region	3563	3574	N/A	INTRINSIC
low complexity region	4076	4103	N/A	INTRINSIC
low complexity region	4184	4212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166957
AA Change: S3981R

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: S3981R

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IPT	30	141	9.02e-3	SMART
Pfam:TIG	146	255	9.4e-18	PFAM
IPT	269	362	2.27e-8	SMART
PbH1	398	420	2.98e3	SMART
IPT	1066	1154	5.34e-5	SMART
IPT	1156	1235	1.44e-1	SMART
Pfam:TIG	1240	1323	3e-13	PFAM
IPT	1328	1407	7.06e0	SMART
Pfam:TIG	1565	1645	3.7e-11	PFAM
IPT	1657	1743	1.89e-5	SMART
Pfam:TIG	1748	1828	9.7e-12	PFAM
IPT	1829	1910	4.87e-8	SMART
IPT	1914	1997	6.84e-3	SMART
IPT	1998	2085	9.86e-1	SMART
IPT	2089	2176	7.21e-11	SMART
PbH1	2105	2126	1.56e3	SMART
G8	2183	2303	2.37e-59	SMART
PbH1	2484	2506	9.48e3	SMART
PbH1	2507	2529	8.45e2	SMART
PbH1	2565	2587	4.11e3	SMART
PbH1	2664	2686	3.5e3	SMART
PbH1	2732	2755	2.7e3	SMART
Blast:G8	2949	2979	1e-5	BLAST
low complexity region	3014	3025	N/A	INTRINSIC
G8	3035	3173	6.5e-57	SMART
PbH1	3292	3314	1.96e3	SMART
PbH1	3354	3376	3.79e1	SMART
PbH1	3415	3437	4.87e2	SMART
PbH1	3470	3492	8.34e3	SMART
PbH1	3493	3514	5.86e3	SMART
low complexity region	3563	3574	N/A	INTRINSIC
low complexity region	4076	4103	N/A	INTRINSIC
low complexity region	4184	4212	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209244
AA Change: S3981R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,177,421 (GRCm39)	H312R	possibly damaging	Het
Aloxe3	T	C	11: 69,025,114 (GRCm39)	F409S	probably damaging	Het
Arfgef1	T	A	1: 10,215,004 (GRCm39)	N1630I	probably damaging	Het
Catsperd	G	A	17: 56,968,252 (GRCm39)	D546N	probably benign	Het
Cbl	A	G	9: 44,064,137 (GRCm39)	S800P	probably damaging	Het
Ccne1	A	T	7: 37,799,255 (GRCm39)	S220T	probably benign	Het
Cd177	T	C	7: 24,443,668 (GRCm39)	Y810C	probably benign	Het
Cercam	T	C	2: 29,766,033 (GRCm39)	V304A	possibly damaging	Het
Cfap100	T	C	6: 90,390,416 (GRCm39)	T75A		Het
Clcn4	T	A	7: 7,287,197 (GRCm39)	I744F	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col27a1	A	G	4: 63,246,887 (GRCm39)	N1670S	unknown	Het
Cps1	G	A	1: 67,248,831 (GRCm39)	R1186Q	probably benign	Het
Cr1l	C	A	1: 194,797,053 (GRCm39)	C328F	probably damaging	Het
Crybg1	T	A	10: 43,880,091 (GRCm39)	T366S	probably benign	Het
Ctbp2	A	T	7: 132,615,712 (GRCm39)	S408T	probably damaging	Het
Dync1h1	T	C	12: 110,601,937 (GRCm39)	S1992P	probably benign	Het
Glyatl3	A	T	17: 41,225,234 (GRCm39)	V3E	probably damaging	Het
Gse1	T	C	8: 121,294,908 (GRCm39)	M343T	possibly damaging	Het
Gys2	T	C	6: 142,405,112 (GRCm39)	D225G	probably damaging	Het
Hecw1	T	C	13: 14,491,628 (GRCm39)	S42G	probably damaging	Het
Helz2	A	G	2: 180,871,883 (GRCm39)	C2673R	probably benign	Het
Hivep1	G	A	13: 42,337,975 (GRCm39)	V2685I	possibly damaging	Het
Icam5	A	G	9: 20,950,165 (GRCm39)	E908G	probably damaging	Het
Kcne1	A	T	16: 92,145,796 (GRCm39)	L16Q	possibly damaging	Het
Kcnk5	G	T	14: 20,195,135 (GRCm39)	Y118*	probably null	Het
Kctd11	T	C	11: 69,770,676 (GRCm39)	T121A	possibly damaging	Het
Mier3	T	C	13: 111,851,260 (GRCm39)	V414A	probably benign	Het
Mindy4	T	C	6: 55,295,261 (GRCm39)	S734P	possibly damaging	Het
Mrps26	T	C	2: 130,405,769 (GRCm39)	V24A	probably benign	Het
Mug2	C	G	6: 122,054,442 (GRCm39)	Q1074E	probably benign	Het
Myo15b	T	C	11: 115,771,255 (GRCm39)	S1P	unknown	Het
Ninj1	A	T	13: 49,344,726 (GRCm39)	T81S	probably benign	Het
Nod2	A	T	8: 89,391,880 (GRCm39)	H729L	probably damaging	Het
Nr1i3	G	A	1: 171,043,955 (GRCm39)	V49I	possibly damaging	Het
Olfm5	G	A	7: 103,810,095 (GRCm39)	Q89*	probably null	Het
Or10ag52	A	T	2: 87,044,174 (GRCm39)	T313S	probably benign	Het
Or2n1b	A	T	17: 38,459,754 (GRCm39)	I92F	probably damaging	Het
Or2y12	T	C	11: 49,426,501 (GRCm39)	V163A	probably benign	Het
Or4e1	A	G	14: 52,700,984 (GRCm39)	S161P	probably benign	Het
Or51a25	C	T	7: 102,373,409 (GRCm39)	R96H	possibly damaging	Het
Or5aq6	A	C	2: 86,923,200 (GRCm39)	D180E	possibly damaging	Het
Or5b124	A	T	19: 13,610,765 (GRCm39)	T97S	probably benign	Het
Or8g53	T	A	9: 39,683,404 (GRCm39)	T231S	probably benign	Het
Pde4dip	T	A	3: 97,666,132 (GRCm39)	T371S	probably benign	Het
Plxnd1	G	T	6: 115,934,526 (GRCm39)	F1802L	probably damaging	Het
Pramel22	T	C	4: 143,381,898 (GRCm39)	N266S	probably benign	Het
Prcp	A	G	7: 92,582,257 (GRCm39)	H449R	probably benign	Het
Prrc2c	A	G	1: 162,532,212 (GRCm39)	W1468R	unknown	Het
Rcvrn	A	G	11: 67,586,480 (GRCm39)	T80A	possibly damaging	Het
Rhou	T	C	8: 124,387,793 (GRCm39)	L175P	probably damaging	Het
Sacs	T	C	14: 61,444,115 (GRCm39)	S2054P	probably damaging	Het
Slc22a30	A	G	19: 8,321,917 (GRCm39)	S414P	probably benign	Het
Slc2a13	T	A	15: 91,227,906 (GRCm39)	S429C	probably damaging	Het
Slc35b3	A	G	13: 39,123,958 (GRCm39)		probably benign	Het
Smyd3	A	G	1: 178,877,854 (GRCm39)		probably null	Het
Strip1	T	A	3: 107,535,530 (GRCm39)	E64D	probably damaging	Het
Sumf2	T	G	5: 129,875,909 (GRCm39)	C25G	possibly damaging	Het
Syngap1	A	C	17: 27,182,057 (GRCm39)	D1190A	possibly damaging	Het
Tas2r139	C	T	6: 42,118,099 (GRCm39)	T77I	probably benign	Het
Tbce	A	T	13: 14,173,027 (GRCm39)	V468D	probably damaging	Het
Tmem191	G	A	16: 17,094,302 (GRCm39)	R42H	probably damaging	Het
Tmem200c	T	C	17: 69,147,633 (GRCm39)	V72A	probably damaging	Het
Ttc28	T	G	5: 111,371,342 (GRCm39)	F628C	probably benign	Het
Wsb2	G	A	5: 117,501,736 (GRCm39)	V34M	possibly damaging	Het
Zfand6	A	G	7: 84,283,558 (GRCm39)	S15P	probably damaging	Het
Zfp964	A	G	8: 70,115,873 (GRCm39)	N158D	possibly damaging	Het
Zic1	G	T	9: 91,246,542 (GRCm39)	Q177K	probably benign	Het
Zswim4	T	C	8: 84,963,633 (GRCm39)	M1V	probably null	Het

Other mutations in Pkhd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pkhd1l1	APN	15	44,340,982 (GRCm39)	missense	probably damaging	1.00
IGL00235:Pkhd1l1	APN	15	44,419,415 (GRCm39)	missense	probably damaging	1.00
IGL00264:Pkhd1l1	APN	15	44,354,425 (GRCm39)	missense	possibly damaging	0.67
IGL00537:Pkhd1l1	APN	15	44,455,388 (GRCm39)	missense	possibly damaging	0.88
IGL00537:Pkhd1l1	APN	15	44,363,443 (GRCm39)	missense	probably benign	0.42
IGL00580:Pkhd1l1	APN	15	44,449,870 (GRCm39)	missense	probably damaging	0.98
IGL01085:Pkhd1l1	APN	15	44,426,148 (GRCm39)	splice site	probably null
IGL01089:Pkhd1l1	APN	15	44,347,265 (GRCm39)	splice site	probably benign
IGL01094:Pkhd1l1	APN	15	44,410,325 (GRCm39)	missense	probably benign	0.09
IGL01120:Pkhd1l1	APN	15	44,368,708 (GRCm39)	critical splice donor site	probably null
IGL01307:Pkhd1l1	APN	15	44,393,425 (GRCm39)	missense	possibly damaging	0.82
IGL01362:Pkhd1l1	APN	15	44,396,378 (GRCm39)	missense	probably benign	0.00
IGL01403:Pkhd1l1	APN	15	44,347,229 (GRCm39)	nonsense	probably null
IGL01546:Pkhd1l1	APN	15	44,429,712 (GRCm39)	missense	probably damaging	1.00
IGL01596:Pkhd1l1	APN	15	44,392,806 (GRCm39)	missense	possibly damaging	0.50
IGL01696:Pkhd1l1	APN	15	44,392,747 (GRCm39)	missense	possibly damaging	0.79
IGL01844:Pkhd1l1	APN	15	44,362,796 (GRCm39)	splice site	probably benign
IGL02007:Pkhd1l1	APN	15	44,397,129 (GRCm39)	splice site	probably benign
IGL02041:Pkhd1l1	APN	15	44,356,452 (GRCm39)	splice site	probably null
IGL02171:Pkhd1l1	APN	15	44,379,542 (GRCm39)	missense	possibly damaging	0.80
IGL02206:Pkhd1l1	APN	15	44,376,245 (GRCm39)	missense	probably benign	0.08
IGL02266:Pkhd1l1	APN	15	44,437,010 (GRCm39)	missense	probably damaging	1.00
IGL02487:Pkhd1l1	APN	15	44,322,822 (GRCm39)	missense	possibly damaging	0.65
IGL02488:Pkhd1l1	APN	15	44,421,993 (GRCm39)	missense	probably benign
IGL02522:Pkhd1l1	APN	15	44,419,298 (GRCm39)	missense	possibly damaging	0.71
IGL02554:Pkhd1l1	APN	15	44,441,896 (GRCm39)	missense	probably damaging	1.00
IGL02566:Pkhd1l1	APN	15	44,389,450 (GRCm39)	splice site	probably null
IGL02602:Pkhd1l1	APN	15	44,421,327 (GRCm39)	missense	probably damaging	1.00
IGL02606:Pkhd1l1	APN	15	44,452,852 (GRCm39)	missense	probably benign	0.00
IGL02623:Pkhd1l1	APN	15	44,448,269 (GRCm39)	missense	probably damaging	1.00
IGL02634:Pkhd1l1	APN	15	44,403,063 (GRCm39)	missense	probably damaging	1.00
IGL02637:Pkhd1l1	APN	15	44,427,720 (GRCm39)	missense	probably damaging	1.00
IGL02651:Pkhd1l1	APN	15	44,347,210 (GRCm39)	missense	probably damaging	1.00
IGL02679:Pkhd1l1	APN	15	44,393,441 (GRCm39)	critical splice donor site	probably null
IGL02684:Pkhd1l1	APN	15	44,379,605 (GRCm39)	critical splice donor site	probably null
IGL02739:Pkhd1l1	APN	15	44,404,346 (GRCm39)	missense	probably benign	0.11
IGL02831:Pkhd1l1	APN	15	44,364,889 (GRCm39)	missense	probably benign	0.18
IGL02839:Pkhd1l1	APN	15	44,392,939 (GRCm39)	missense	probably damaging	0.98
IGL02944:Pkhd1l1	APN	15	44,364,927 (GRCm39)	missense	probably damaging	1.00
IGL02957:Pkhd1l1	APN	15	44,376,304 (GRCm39)	missense	probably damaging	1.00
IGL03001:Pkhd1l1	APN	15	44,421,400 (GRCm39)	missense	probably damaging	1.00
IGL03030:Pkhd1l1	APN	15	44,460,298 (GRCm39)	missense	probably benign	0.41
IGL03030:Pkhd1l1	APN	15	44,455,372 (GRCm39)	missense	probably benign	0.00
IGL03132:Pkhd1l1	APN	15	44,438,013 (GRCm39)	missense	probably damaging	1.00
IGL03194:Pkhd1l1	APN	15	44,381,531 (GRCm39)	missense	probably damaging	1.00
IGL03219:Pkhd1l1	APN	15	44,460,291 (GRCm39)	missense	possibly damaging	0.62
IGL03236:Pkhd1l1	APN	15	44,445,222 (GRCm39)	missense	probably damaging	1.00
IGL03266:Pkhd1l1	APN	15	44,402,348 (GRCm39)	missense	probably damaging	1.00
IGL03276:Pkhd1l1	APN	15	44,457,980 (GRCm39)	missense	possibly damaging	0.77
IGL03284:Pkhd1l1	APN	15	44,410,914 (GRCm39)	splice site	probably benign
IGL03377:Pkhd1l1	APN	15	44,347,747 (GRCm39)	splice site	probably null
R0310_Pkhd1l1_251	UTSW	15	44,386,134 (GRCm39)	splice site	probably benign
R0344_Pkhd1l1_462	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R1737_Pkhd1l1_815	UTSW	15	44,410,905 (GRCm39)	critical splice donor site	probably null
R5049_Pkhd1l1_556	UTSW	15	44,321,012 (GRCm39)	missense	probably benign	0.00
K7371:Pkhd1l1	UTSW	15	44,363,463 (GRCm39)	missense	possibly damaging	0.94
K7371:Pkhd1l1	UTSW	15	44,400,838 (GRCm39)	missense	possibly damaging	0.67
N/A - 287:Pkhd1l1	UTSW	15	44,445,654 (GRCm39)	missense	probably damaging	0.98
P4717OSA:Pkhd1l1	UTSW	15	44,391,643 (GRCm39)	missense	probably damaging	1.00
P4717OSA:Pkhd1l1	UTSW	15	44,386,895 (GRCm39)	missense	probably benign	0.17
R0007:Pkhd1l1	UTSW	15	44,437,794 (GRCm39)	splice site	probably benign
R0020:Pkhd1l1	UTSW	15	44,420,268 (GRCm39)	missense	probably damaging	1.00
R0034:Pkhd1l1	UTSW	15	44,367,405 (GRCm39)	missense	probably benign	0.00
R0040:Pkhd1l1	UTSW	15	44,437,021 (GRCm39)	missense	probably damaging	1.00
R0050:Pkhd1l1	UTSW	15	44,437,203 (GRCm39)	missense	possibly damaging	0.79
R0050:Pkhd1l1	UTSW	15	44,437,203 (GRCm39)	missense	possibly damaging	0.79
R0063:Pkhd1l1	UTSW	15	44,392,633 (GRCm39)	missense	probably damaging	1.00
R0063:Pkhd1l1	UTSW	15	44,392,633 (GRCm39)	missense	probably damaging	1.00
R0086:Pkhd1l1	UTSW	15	44,419,404 (GRCm39)	missense	possibly damaging	0.94
R0103:Pkhd1l1	UTSW	15	44,460,537 (GRCm39)	missense	probably benign
R0103:Pkhd1l1	UTSW	15	44,460,537 (GRCm39)	missense	probably benign
R0127:Pkhd1l1	UTSW	15	44,418,001 (GRCm39)	missense	probably damaging	0.99
R0226:Pkhd1l1	UTSW	15	44,390,180 (GRCm39)	missense	possibly damaging	0.65
R0268:Pkhd1l1	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R0294:Pkhd1l1	UTSW	15	44,423,831 (GRCm39)	missense	probably benign	0.05
R0310:Pkhd1l1	UTSW	15	44,386,134 (GRCm39)	splice site	probably benign
R0344:Pkhd1l1	UTSW	15	44,460,407 (GRCm39)	missense	probably benign	0.15
R0449:Pkhd1l1	UTSW	15	44,364,915 (GRCm39)	missense	probably damaging	1.00
R0492:Pkhd1l1	UTSW	15	44,383,086 (GRCm39)	missense	probably benign	0.03
R0505:Pkhd1l1	UTSW	15	44,452,814 (GRCm39)	missense	probably damaging	1.00
R0529:Pkhd1l1	UTSW	15	44,390,150 (GRCm39)	missense	possibly damaging	0.62
R0543:Pkhd1l1	UTSW	15	44,386,887 (GRCm39)	critical splice acceptor site	probably null
R0552:Pkhd1l1	UTSW	15	44,352,942 (GRCm39)	missense	probably damaging	0.98
R0558:Pkhd1l1	UTSW	15	44,347,820 (GRCm39)	missense	probably damaging	0.97
R0609:Pkhd1l1	UTSW	15	44,330,820 (GRCm39)	missense	possibly damaging	0.48
R0619:Pkhd1l1	UTSW	15	44,347,234 (GRCm39)	missense	probably damaging	1.00
R0727:Pkhd1l1	UTSW	15	44,399,184 (GRCm39)	missense	possibly damaging	0.80
R0787:Pkhd1l1	UTSW	15	44,392,660 (GRCm39)	missense	probably damaging	1.00
R0846:Pkhd1l1	UTSW	15	44,358,993 (GRCm39)	missense	probably damaging	1.00
R0909:Pkhd1l1	UTSW	15	44,402,279 (GRCm39)	splice site	probably null
R0942:Pkhd1l1	UTSW	15	44,396,355 (GRCm39)	missense	probably benign	0.01
R1056:Pkhd1l1	UTSW	15	44,455,360 (GRCm39)	missense	probably damaging	1.00
R1147:Pkhd1l1	UTSW	15	44,400,837 (GRCm39)	missense	probably null	0.15
R1147:Pkhd1l1	UTSW	15	44,400,837 (GRCm39)	missense	probably null	0.15
R1187:Pkhd1l1	UTSW	15	44,361,447 (GRCm39)	missense	possibly damaging	0.65
R1328:Pkhd1l1	UTSW	15	44,361,392 (GRCm39)	missense	probably benign	0.01
R1331:Pkhd1l1	UTSW	15	44,452,993 (GRCm39)	missense	probably damaging	1.00
R1331:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1332:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1335:Pkhd1l1	UTSW	15	44,368,943 (GRCm39)	missense	probably damaging	1.00
R1338:Pkhd1l1	UTSW	15	44,390,120 (GRCm39)	missense	probably damaging	1.00
R1440:Pkhd1l1	UTSW	15	44,404,384 (GRCm39)	splice site	probably benign
R1445:Pkhd1l1	UTSW	15	44,369,040 (GRCm39)	missense	probably benign	0.32
R1458:Pkhd1l1	UTSW	15	44,379,511 (GRCm39)	missense	probably benign	0.01
R1469:Pkhd1l1	UTSW	15	44,400,282 (GRCm39)	missense	probably benign	0.45
R1469:Pkhd1l1	UTSW	15	44,400,282 (GRCm39)	missense	probably benign	0.45
R1500:Pkhd1l1	UTSW	15	44,408,890 (GRCm39)	missense	probably damaging	1.00
R1528:Pkhd1l1	UTSW	15	44,390,120 (GRCm39)	missense	probably damaging	1.00
R1542:Pkhd1l1	UTSW	15	44,391,587 (GRCm39)	missense	probably benign	0.44
R1568:Pkhd1l1	UTSW	15	44,408,897 (GRCm39)	splice site	probably null
R1571:Pkhd1l1	UTSW	15	44,390,237 (GRCm39)	missense	probably benign
R1572:Pkhd1l1	UTSW	15	44,406,869 (GRCm39)	missense	probably benign	0.01
R1604:Pkhd1l1	UTSW	15	44,330,763 (GRCm39)	nonsense	probably null
R1638:Pkhd1l1	UTSW	15	44,460,513 (GRCm39)	missense	probably benign	0.06
R1639:Pkhd1l1	UTSW	15	44,404,351 (GRCm39)	missense	probably damaging	0.99
R1737:Pkhd1l1	UTSW	15	44,410,905 (GRCm39)	critical splice donor site	probably null
R1816:Pkhd1l1	UTSW	15	44,391,635 (GRCm39)	missense	possibly damaging	0.91
R1826:Pkhd1l1	UTSW	15	44,366,741 (GRCm39)	missense	possibly damaging	0.75
R1880:Pkhd1l1	UTSW	15	44,388,638 (GRCm39)	missense	probably benign	0.13
R1930:Pkhd1l1	UTSW	15	44,366,733 (GRCm39)	missense	possibly damaging	0.69
R1933:Pkhd1l1	UTSW	15	44,404,280 (GRCm39)	missense	possibly damaging	0.48
R1938:Pkhd1l1	UTSW	15	44,363,434 (GRCm39)	missense	probably benign
R1975:Pkhd1l1	UTSW	15	44,393,109 (GRCm39)	missense	probably damaging	1.00
R1999:Pkhd1l1	UTSW	15	44,363,378 (GRCm39)	splice site	probably null
R2037:Pkhd1l1	UTSW	15	44,431,617 (GRCm39)	splice site	probably null
R2045:Pkhd1l1	UTSW	15	44,343,050 (GRCm39)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,445,137 (GRCm39)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,410,909 (GRCm39)	splice site	probably benign
R2063:Pkhd1l1	UTSW	15	44,414,148 (GRCm39)	missense	possibly damaging	0.69
R2072:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2073:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2075:Pkhd1l1	UTSW	15	44,422,035 (GRCm39)	missense	probably damaging	1.00
R2078:Pkhd1l1	UTSW	15	44,391,163 (GRCm39)	missense	probably benign	0.08
R2116:Pkhd1l1	UTSW	15	44,432,878 (GRCm39)	missense	probably damaging	0.97
R2133:Pkhd1l1	UTSW	15	44,379,581 (GRCm39)	missense	possibly damaging	0.91
R2138:Pkhd1l1	UTSW	15	44,364,853 (GRCm39)	missense	probably damaging	1.00
R2139:Pkhd1l1	UTSW	15	44,393,214 (GRCm39)	missense	possibly damaging	0.46
R2145:Pkhd1l1	UTSW	15	44,376,273 (GRCm39)	splice site	probably null
R2150:Pkhd1l1	UTSW	15	44,363,378 (GRCm39)	splice site	probably null
R2177:Pkhd1l1	UTSW	15	44,322,791 (GRCm39)	missense	probably benign
R2184:Pkhd1l1	UTSW	15	44,362,692 (GRCm39)	missense	possibly damaging	0.89
R2216:Pkhd1l1	UTSW	15	44,437,291 (GRCm39)	missense	probably damaging	1.00
R2226:Pkhd1l1	UTSW	15	44,376,188 (GRCm39)	missense	possibly damaging	0.79
R2227:Pkhd1l1	UTSW	15	44,376,188 (GRCm39)	missense	possibly damaging	0.79
R2243:Pkhd1l1	UTSW	15	44,410,323 (GRCm39)	missense	probably damaging	1.00
R2290:Pkhd1l1	UTSW	15	44,391,646 (GRCm39)	missense	probably benign	0.03
R2294:Pkhd1l1	UTSW	15	44,343,003 (GRCm39)	missense	probably damaging	0.99
R2346:Pkhd1l1	UTSW	15	44,423,902 (GRCm39)	missense	possibly damaging	0.82
R2356:Pkhd1l1	UTSW	15	44,396,415 (GRCm39)	missense	probably benign	0.00
R2386:Pkhd1l1	UTSW	15	44,391,574 (GRCm39)	missense	probably benign	0.00
R2404:Pkhd1l1	UTSW	15	44,414,216 (GRCm39)	missense	probably damaging	1.00
R2504:Pkhd1l1	UTSW	15	44,348,824 (GRCm39)	missense	probably damaging	0.97
R2679:Pkhd1l1	UTSW	15	44,408,782 (GRCm39)	missense	probably damaging	0.99
R2860:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2861:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2862:Pkhd1l1	UTSW	15	44,404,267 (GRCm39)	missense	probably damaging	1.00
R2972:Pkhd1l1	UTSW	15	44,410,644 (GRCm39)	missense	possibly damaging	0.65
R3016:Pkhd1l1	UTSW	15	44,408,766 (GRCm39)	missense	probably benign	0.02
R3162:Pkhd1l1	UTSW	15	44,368,924 (GRCm39)	missense	probably damaging	1.00
R3162:Pkhd1l1	UTSW	15	44,368,924 (GRCm39)	missense	probably damaging	1.00
R3416:Pkhd1l1	UTSW	15	44,410,760 (GRCm39)	missense	probably damaging	1.00
R3623:Pkhd1l1	UTSW	15	44,390,265 (GRCm39)	missense	probably damaging	1.00
R3687:Pkhd1l1	UTSW	15	44,409,983 (GRCm39)	missense	probably benign	0.17
R3755:Pkhd1l1	UTSW	15	44,452,802 (GRCm39)	missense	probably damaging	1.00
R3776:Pkhd1l1	UTSW	15	44,378,371 (GRCm39)	critical splice donor site	probably null
R3803:Pkhd1l1	UTSW	15	44,356,531 (GRCm39)	missense	probably benign	0.25
R3942:Pkhd1l1	UTSW	15	44,455,422 (GRCm39)	critical splice donor site	probably null
R4010:Pkhd1l1	UTSW	15	44,392,496 (GRCm39)	missense	possibly damaging	0.80
R4049:Pkhd1l1	UTSW	15	44,361,953 (GRCm39)	missense	probably damaging	1.00
R4059:Pkhd1l1	UTSW	15	44,414,156 (GRCm39)	missense	probably benign	0.01
R4179:Pkhd1l1	UTSW	15	44,387,045 (GRCm39)	missense	probably benign	0.45
R4184:Pkhd1l1	UTSW	15	44,455,302 (GRCm39)	missense	probably benign	0.00
R4369:Pkhd1l1	UTSW	15	44,368,949 (GRCm39)	missense	probably benign	0.00
R4462:Pkhd1l1	UTSW	15	44,445,200 (GRCm39)	missense	probably damaging	1.00
R4551:Pkhd1l1	UTSW	15	44,414,281 (GRCm39)	missense	probably damaging	1.00
R4618:Pkhd1l1	UTSW	15	44,403,078 (GRCm39)	missense	probably damaging	1.00
R4632:Pkhd1l1	UTSW	15	44,347,796 (GRCm39)	missense	probably benign	0.07
R4657:Pkhd1l1	UTSW	15	44,410,743 (GRCm39)	missense	probably damaging	1.00
R4716:Pkhd1l1	UTSW	15	44,419,428 (GRCm39)	missense	probably damaging	1.00
R4788:Pkhd1l1	UTSW	15	44,361,417 (GRCm39)	missense	probably damaging	0.99
R4828:Pkhd1l1	UTSW	15	44,392,801 (GRCm39)	missense	possibly damaging	0.55
R4858:Pkhd1l1	UTSW	15	44,354,497 (GRCm39)	missense	probably damaging	0.99
R4860:Pkhd1l1	UTSW	15	44,400,774 (GRCm39)	missense	possibly damaging	0.77
R4860:Pkhd1l1	UTSW	15	44,400,774 (GRCm39)	missense	possibly damaging	0.77
R4951:Pkhd1l1	UTSW	15	44,397,287 (GRCm39)	missense	possibly damaging	0.82
R4963:Pkhd1l1	UTSW	15	44,367,421 (GRCm39)	missense	probably benign	0.00
R5023:Pkhd1l1	UTSW	15	44,391,587 (GRCm39)	missense	probably benign	0.44
R5023:Pkhd1l1	UTSW	15	44,445,623 (GRCm39)	missense	probably benign	0.00
R5035:Pkhd1l1	UTSW	15	44,431,720 (GRCm39)	missense	probably damaging	1.00
R5049:Pkhd1l1	UTSW	15	44,321,012 (GRCm39)	missense	probably benign	0.00
R5065:Pkhd1l1	UTSW	15	44,445,689 (GRCm39)	missense	possibly damaging	0.68
R5089:Pkhd1l1	UTSW	15	44,455,283 (GRCm39)	missense	probably benign	0.01
R5151:Pkhd1l1	UTSW	15	44,368,705 (GRCm39)	missense	probably benign	0.00
R5153:Pkhd1l1	UTSW	15	44,368,705 (GRCm39)	missense	probably benign	0.00
R5189:Pkhd1l1	UTSW	15	44,410,544 (GRCm39)	missense	probably damaging	1.00
R5204:Pkhd1l1	UTSW	15	44,410,437 (GRCm39)	missense	possibly damaging	0.51
R5216:Pkhd1l1	UTSW	15	44,359,043 (GRCm39)	nonsense	probably null
R5286:Pkhd1l1	UTSW	15	44,378,368 (GRCm39)	nonsense	probably null
R5292:Pkhd1l1	UTSW	15	44,392,962 (GRCm39)	missense	probably damaging	1.00
R5293:Pkhd1l1	UTSW	15	44,399,146 (GRCm39)	missense	probably benign	0.01
R5298:Pkhd1l1	UTSW	15	44,367,442 (GRCm39)	missense	probably benign	0.00
R5327:Pkhd1l1	UTSW	15	44,410,258 (GRCm39)	missense	probably damaging	1.00
R5346:Pkhd1l1	UTSW	15	44,404,363 (GRCm39)	missense	probably damaging	1.00
R5481:Pkhd1l1	UTSW	15	44,422,042 (GRCm39)	missense	probably damaging	1.00
R5645:Pkhd1l1	UTSW	15	44,396,388 (GRCm39)	missense	probably benign	0.18
R5718:Pkhd1l1	UTSW	15	44,408,813 (GRCm39)	missense	probably damaging	1.00
R5809:Pkhd1l1	UTSW	15	44,383,103 (GRCm39)	missense	probably benign	0.03
R5816:Pkhd1l1	UTSW	15	44,429,718 (GRCm39)	missense	probably benign	0.01
R5854:Pkhd1l1	UTSW	15	44,445,186 (GRCm39)	missense	probably damaging	1.00
R5876:Pkhd1l1	UTSW	15	44,441,984 (GRCm39)	missense	possibly damaging	0.51
R5909:Pkhd1l1	UTSW	15	44,390,159 (GRCm39)	missense	probably damaging	1.00
R5950:Pkhd1l1	UTSW	15	44,396,361 (GRCm39)	missense	probably benign	0.00
R5961:Pkhd1l1	UTSW	15	44,322,859 (GRCm39)	missense	probably damaging	1.00
R5972:Pkhd1l1	UTSW	15	44,408,812 (GRCm39)	missense	probably damaging	1.00
R5975:Pkhd1l1	UTSW	15	44,389,384 (GRCm39)	missense	probably damaging	1.00
R5982:Pkhd1l1	UTSW	15	44,352,900 (GRCm39)	splice site	probably null
R6066:Pkhd1l1	UTSW	15	44,391,525 (GRCm39)	missense	probably damaging	0.99
R6122:Pkhd1l1	UTSW	15	44,421,336 (GRCm39)	missense	probably damaging	1.00
R6248:Pkhd1l1	UTSW	15	44,392,955 (GRCm39)	missense	probably benign
R6294:Pkhd1l1	UTSW	15	44,433,424 (GRCm39)	missense	probably damaging	1.00
R6301:Pkhd1l1	UTSW	15	44,452,921 (GRCm39)	missense	probably damaging	0.99
R6526:Pkhd1l1	UTSW	15	44,361,485 (GRCm39)	critical splice donor site	probably null
R6707:Pkhd1l1	UTSW	15	44,392,539 (GRCm39)	missense	probably benign
R6736:Pkhd1l1	UTSW	15	44,421,336 (GRCm39)	missense	probably damaging	1.00
R6753:Pkhd1l1	UTSW	15	44,453,059 (GRCm39)	missense	probably benign	0.45
R6815:Pkhd1l1	UTSW	15	44,426,051 (GRCm39)	missense	probably damaging	1.00
R6874:Pkhd1l1	UTSW	15	44,452,923 (GRCm39)	missense	probably benign	0.06
R6942:Pkhd1l1	UTSW	15	44,386,025 (GRCm39)	missense	probably damaging	1.00
R6970:Pkhd1l1	UTSW	15	44,375,070 (GRCm39)	missense	possibly damaging	0.61
R6982:Pkhd1l1	UTSW	15	44,429,664 (GRCm39)	missense	probably damaging	0.97
R7103:Pkhd1l1	UTSW	15	44,437,027 (GRCm39)	missense	probably benign	0.02
R7116:Pkhd1l1	UTSW	15	44,421,372 (GRCm39)	missense	probably benign	0.00
R7135:Pkhd1l1	UTSW	15	44,448,374 (GRCm39)	critical splice donor site	probably null
R7143:Pkhd1l1	UTSW	15	44,437,033 (GRCm39)	missense	possibly damaging	0.93
R7177:Pkhd1l1	UTSW	15	44,330,800 (GRCm39)	missense	probably damaging	1.00
R7194:Pkhd1l1	UTSW	15	44,392,512 (GRCm39)	missense	probably damaging	1.00
R7204:Pkhd1l1	UTSW	15	44,386,949 (GRCm39)	missense	possibly damaging	0.90
R7215:Pkhd1l1	UTSW	15	44,391,559 (GRCm39)	missense	possibly damaging	0.78
R7218:Pkhd1l1	UTSW	15	44,386,091 (GRCm39)	missense	possibly damaging	0.49
R7225:Pkhd1l1	UTSW	15	44,410,337 (GRCm39)	missense	probably damaging	1.00
R7283:Pkhd1l1	UTSW	15	44,366,676 (GRCm39)	missense	probably benign	0.10
R7292:Pkhd1l1	UTSW	15	44,361,986 (GRCm39)	missense	probably benign
R7304:Pkhd1l1	UTSW	15	44,361,878 (GRCm39)	missense	possibly damaging	0.94
R7349:Pkhd1l1	UTSW	15	44,378,350 (GRCm39)	missense	probably damaging	1.00
R7359:Pkhd1l1	UTSW	15	44,452,882 (GRCm39)	missense	probably damaging	1.00
R7407:Pkhd1l1	UTSW	15	44,458,407 (GRCm39)	missense	possibly damaging	0.75
R7475:Pkhd1l1	UTSW	15	44,368,581 (GRCm39)	nonsense	probably null
R7481:Pkhd1l1	UTSW	15	44,376,307 (GRCm39)	missense	probably benign
R7554:Pkhd1l1	UTSW	15	44,358,866 (GRCm39)	missense	probably damaging	1.00
R7555:Pkhd1l1	UTSW	15	44,414,157 (GRCm39)	missense	possibly damaging	0.51
R7562:Pkhd1l1	UTSW	15	44,378,326 (GRCm39)	missense	possibly damaging	0.68
R7583:Pkhd1l1	UTSW	15	44,431,760 (GRCm39)	critical splice donor site	probably null
R7595:Pkhd1l1	UTSW	15	44,358,917 (GRCm39)	missense	probably damaging	1.00
R7749:Pkhd1l1	UTSW	15	44,391,133 (GRCm39)	missense	probably benign	0.00
R7754:Pkhd1l1	UTSW	15	44,449,804 (GRCm39)	missense	possibly damaging	0.94
R7761:Pkhd1l1	UTSW	15	44,393,280 (GRCm39)	missense	probably benign	0.00
R7774:Pkhd1l1	UTSW	15	44,404,303 (GRCm39)	missense	probably benign	0.03
R7785:Pkhd1l1	UTSW	15	44,406,965 (GRCm39)	missense	probably damaging	1.00
R7790:Pkhd1l1	UTSW	15	44,441,977 (GRCm39)	missense	probably damaging	1.00
R7804:Pkhd1l1	UTSW	15	44,460,534 (GRCm39)	nonsense	probably null
R7864:Pkhd1l1	UTSW	15	44,389,449 (GRCm39)	critical splice donor site	probably null
R7883:Pkhd1l1	UTSW	15	44,392,522 (GRCm39)	missense	probably damaging	1.00
R8031:Pkhd1l1	UTSW	15	44,376,230 (GRCm39)	missense	probably damaging	1.00
R8128:Pkhd1l1	UTSW	15	44,361,449 (GRCm39)	missense	possibly damaging	0.94
R8142:Pkhd1l1	UTSW	15	44,378,327 (GRCm39)	missense	probably benign	0.00
R8150:Pkhd1l1	UTSW	15	44,410,055 (GRCm39)	missense	possibly damaging	0.68
R8209:Pkhd1l1	UTSW	15	44,437,803 (GRCm39)	missense	possibly damaging	0.46
R8212:Pkhd1l1	UTSW	15	44,362,696 (GRCm39)	missense	probably benign	0.12
R8226:Pkhd1l1	UTSW	15	44,437,803 (GRCm39)	missense	possibly damaging	0.46
R8248:Pkhd1l1	UTSW	15	44,406,942 (GRCm39)	missense	probably damaging	0.99
R8299:Pkhd1l1	UTSW	15	44,445,330 (GRCm39)	missense	probably benign	0.26
R8425:Pkhd1l1	UTSW	15	44,437,911 (GRCm39)	missense	probably benign	0.01
R8485:Pkhd1l1	UTSW	15	44,423,796 (GRCm39)	missense	probably damaging	0.98
R8486:Pkhd1l1	UTSW	15	44,410,812 (GRCm39)	missense	probably damaging	1.00
R8701:Pkhd1l1	UTSW	15	44,438,079 (GRCm39)	missense	probably damaging	1.00
R8709:Pkhd1l1	UTSW	15	44,381,570 (GRCm39)	missense	probably benign	0.01
R8777:Pkhd1l1	UTSW	15	44,361,967 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Pkhd1l1	UTSW	15	44,361,967 (GRCm39)	missense	probably damaging	1.00
R8845:Pkhd1l1	UTSW	15	44,368,650 (GRCm39)	missense	probably benign	0.30
R8846:Pkhd1l1	UTSW	15	44,410,358 (GRCm39)	nonsense	probably null
R8863:Pkhd1l1	UTSW	15	44,433,382 (GRCm39)	nonsense	probably null
R8917:Pkhd1l1	UTSW	15	44,396,403 (GRCm39)	missense	probably benign	0.04
R8936:Pkhd1l1	UTSW	15	44,402,312 (GRCm39)	missense	possibly damaging	0.94
R8962:Pkhd1l1	UTSW	15	44,400,291 (GRCm39)	missense	probably damaging	1.00
R8971:Pkhd1l1	UTSW	15	44,392,915 (GRCm39)	missense	possibly damaging	0.68
R8973:Pkhd1l1	UTSW	15	44,449,833 (GRCm39)	missense	probably damaging	1.00
R8982:Pkhd1l1	UTSW	15	44,387,069 (GRCm39)	nonsense	probably null
R8994:Pkhd1l1	UTSW	15	44,410,499 (GRCm39)	missense	probably damaging	0.99
R9004:Pkhd1l1	UTSW	15	44,406,768 (GRCm39)	missense	probably benign	0.16
R9064:Pkhd1l1	UTSW	15	44,426,038 (GRCm39)	missense	possibly damaging	0.93
R9173:Pkhd1l1	UTSW	15	44,384,152 (GRCm39)	missense	probably benign	0.09
R9213:Pkhd1l1	UTSW	15	44,358,874 (GRCm39)	missense	probably damaging	1.00
R9218:Pkhd1l1	UTSW	15	44,384,122 (GRCm39)	missense	possibly damaging	0.90
R9256:Pkhd1l1	UTSW	15	44,397,290 (GRCm39)	critical splice donor site	probably null
R9291:Pkhd1l1	UTSW	15	44,433,372 (GRCm39)	missense	probably damaging	1.00
R9309:Pkhd1l1	UTSW	15	44,400,289 (GRCm39)	missense	probably benign	0.00
R9319:Pkhd1l1	UTSW	15	44,392,974 (GRCm39)	missense	possibly damaging	0.46
R9339:Pkhd1l1	UTSW	15	44,452,949 (GRCm39)	missense	probably damaging	1.00
R9366:Pkhd1l1	UTSW	15	44,410,308 (GRCm39)	missense	probably benign	0.03
R9444:Pkhd1l1	UTSW	15	44,418,053 (GRCm39)	missense	probably benign	0.00
R9464:Pkhd1l1	UTSW	15	44,343,009 (GRCm39)	missense	probably damaging	1.00
R9525:Pkhd1l1	UTSW	15	44,448,322 (GRCm39)	missense	possibly damaging	0.88
R9542:Pkhd1l1	UTSW	15	44,410,284 (GRCm39)	missense	probably benign	0.12
R9544:Pkhd1l1	UTSW	15	44,410,239 (GRCm39)	missense	probably damaging	1.00
R9608:Pkhd1l1	UTSW	15	44,442,029 (GRCm39)	missense	possibly damaging	0.65
R9673:Pkhd1l1	UTSW	15	44,386,901 (GRCm39)	missense	probably benign	0.22
R9771:Pkhd1l1	UTSW	15	44,358,883 (GRCm39)	missense	probably benign
R9792:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
R9793:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
R9795:Pkhd1l1	UTSW	15	44,406,983 (GRCm39)	missense	probably benign	0.00
RF006:Pkhd1l1	UTSW	15	44,421,903 (GRCm39)	critical splice acceptor site	probably benign
RF006:Pkhd1l1	UTSW	15	44,366,634 (GRCm39)	missense	probably benign	0.03
RF008:Pkhd1l1	UTSW	15	44,421,901 (GRCm39)	critical splice acceptor site	probably benign
RF012:Pkhd1l1	UTSW	15	44,421,901 (GRCm39)	critical splice acceptor site	probably benign
RF019:Pkhd1l1	UTSW	15	44,421,903 (GRCm39)	critical splice acceptor site	probably benign
RF030:Pkhd1l1	UTSW	15	44,421,898 (GRCm39)	critical splice acceptor site	probably benign
RF033:Pkhd1l1	UTSW	15	44,421,902 (GRCm39)	critical splice acceptor site	probably benign
RF038:Pkhd1l1	UTSW	15	44,421,899 (GRCm39)	critical splice acceptor site	probably benign
RF046:Pkhd1l1	UTSW	15	44,421,891 (GRCm39)	critical splice acceptor site	probably benign
X0027:Pkhd1l1	UTSW	15	44,455,362 (GRCm39)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,441,974 (GRCm39)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,436,972 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GTCCCTGGTGAAAACTACTTTG -3'
(R):5'- TTTCCTGAGTGCTGGCTAAC -3'

Sequencing Primer
(F):5'- TGATAGAACCTACCAGATGCTG -3'
(R):5'- GCTAACCAGGCCATAGTAGG -3'

Posted On

2022-02-07