Mutagenetix > Incidental Mutation

Incidental Mutation 'R7292:Pkhd1l1'

566512

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

045397-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7292 (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 44361986 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 553 (M553K)

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: M553K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: M553K

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: M553K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: M553K

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: M553K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,215,861 (GRCm39)	C322*	probably null	Het
4930553M12Rik	G	A	4: 88,786,568 (GRCm39)	R17C	unknown	Het
Abcc8	G	A	7: 45,784,950 (GRCm39)	T726I	probably benign	Het
Adamts18	T	C	8: 114,436,277 (GRCm39)	T981A	probably benign	Het
Adgrb3	A	G	1: 25,570,957 (GRCm39)	C507R	probably damaging	Het
Bloc1s6	T	A	2: 122,584,615 (GRCm39)	D63E	probably damaging	Het
Cdc25b	C	T	2: 131,033,093 (GRCm39)	R135W	probably damaging	Het
Cdca2	G	T	14: 67,915,326 (GRCm39)	Y644*	probably null	Het
Ceacam10	G	T	7: 24,477,775 (GRCm39)	G97C	probably damaging	Het
Cenpf	G	A	1: 189,382,891 (GRCm39)	L2668F	probably damaging	Het
Cog4	A	G	8: 111,608,460 (GRCm39)	D774G	probably damaging	Het
Col11a2	G	A	17: 34,270,482 (GRCm39)	G511E	unknown	Het
Col19a1	T	A	1: 24,569,089 (GRCm39)	I220F	unknown	Het
Cubn	G	T	2: 13,429,550 (GRCm39)	T1317K	probably damaging	Het
Dnaaf5	T	C	5: 139,136,072 (GRCm39)	L24P	unknown	Het
Eif4a3l2	G	A	6: 116,528,438 (GRCm39)	R105Q	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Foxn4	C	A	5: 114,396,716 (GRCm39)	E256*	probably null	Het
Gm5930	A	G	14: 44,574,014 (GRCm39)	S108P	probably damaging	Het
Gnl3	A	G	14: 30,735,189 (GRCm39)	S468P	probably benign	Het
Gzmb	A	T	14: 56,499,576 (GRCm39)	S11T	probably benign	Het
Hmcn1	T	C	1: 150,608,880 (GRCm39)		probably null	Het
Ifi206	A	G	1: 173,301,428 (GRCm39)	L750P	unknown	Het
Ifi213	T	A	1: 173,422,691 (GRCm39)	E58V	probably damaging	Het
Igkv4-78	A	T	6: 69,036,752 (GRCm39)	Y94N	probably damaging	Het
Igsf9	G	T	1: 172,319,324 (GRCm39)		probably null	Het
Itpr2	G	T	6: 146,060,447 (GRCm39)	L2490M	possibly damaging	Het
Kdm2b	A	G	5: 123,018,854 (GRCm39)	F862S	probably damaging	Het
Kif19b	A	G	5: 140,457,425 (GRCm39)	D398G	probably benign	Het
Meis1	A	G	11: 18,961,351 (GRCm39)	I174T	probably damaging	Het
Micu3	A	G	8: 40,835,166 (GRCm39)	Q507R	probably benign	Het
Mpp4	C	T	1: 59,182,969 (GRCm39)	E313K	possibly damaging	Het
Nfatc4	G	A	14: 56,062,512 (GRCm39)	E7K	probably damaging	Het
Or7g16	A	T	9: 18,727,486 (GRCm39)	Y35N	probably damaging	Het
Or9s18	T	A	13: 65,300,656 (GRCm39)	V206D	possibly damaging	Het
Osbpl5	G	A	7: 143,255,015 (GRCm39)	P470S	probably damaging	Het
Pak6	A	G	2: 118,524,072 (GRCm39)	D409G	possibly damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp2r3d	T	C	9: 101,089,871 (GRCm39)	N151D	probably damaging	Het
Prdm12	T	C	2: 31,533,862 (GRCm39)	W160R	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prl2a1	A	G	13: 27,991,353 (GRCm39)		probably null	Het
Prob1	G	A	18: 35,787,603 (GRCm39)	P217L	possibly damaging	Het
Ramp1	A	C	1: 91,124,499 (GRCm39)	H20P	probably benign	Het
Rbm47	T	A	5: 66,184,093 (GRCm39)	E170V	possibly damaging	Het
Relch	G	T	1: 105,649,141 (GRCm39)		probably null	Het
Rpn1	C	T	6: 88,067,066 (GRCm39)	P142L	probably damaging	Het
Rsu1	C	T	2: 13,174,827 (GRCm39)	R238H	probably damaging	Het
Sh3rf3	C	T	10: 58,907,795 (GRCm39)	P441L	probably damaging	Het
Slc1a6	A	G	10: 78,650,438 (GRCm39)	S559G	possibly damaging	Het
Slc35f5	C	A	1: 125,500,222 (GRCm39)	S245R	probably damaging	Het
Spcs3	T	C	8: 54,979,554 (GRCm39)	N76D	probably benign	Het
Spmip5	A	T	19: 58,777,539 (GRCm39)	Y90*	probably null	Het
Svep1	T	C	4: 58,111,395 (GRCm39)	T1075A	possibly damaging	Het
Sympk	A	T	7: 18,769,955 (GRCm39)	I211F	probably benign	Het
Tk1	C	T	11: 117,716,603 (GRCm39)	M1I	probably null	Het
Tln2	A	G	9: 67,253,743 (GRCm39)	V776A	probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Tnk2	T	C	16: 32,499,618 (GRCm39)	V977A	probably benign	Het
Toporsl	A	T	4: 52,611,630 (GRCm39)	S508C	probably benign	Het
Trank1	A	C	9: 111,206,938 (GRCm39)	R1690S	probably benign	Het
Trio	T	A	15: 27,828,437 (GRCm39)	Q1409L	possibly damaging	Het
Vit	T	C	17: 78,912,927 (GRCm39)	F287L	probably benign	Het
Vmn2r109	G	C	17: 20,761,700 (GRCm39)	D552E	probably benign	Het
Zw10	T	C	9: 48,972,491 (GRCm39)	V186A	probably benign	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
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
R9185:Pkhd1l1	UTSW	15	44,453,019 (GRCm39)	missense	probably benign	0.01
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'- GAGGCACTGAATAGCCAAGTTAC -3'
(R):5'- GGATATGCCTGACATTTGTTTGCTATC -3'

Sequencing Primer
(F):5'- AACTGGGAGACAGCTGAT -3'
(R):5'- GCTATCTTTTAATCTCAGTAGAACCC -3'

Posted On

2019-06-26