Mutagenetix > Incidental Mutation

Incidental Mutation 'R5972:Pkhd1l1'

471487

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1l1

Ensembl Gene

ENSMUSG00000038725

Gene Name

polycystic kidney and hepatic disease 1-like 1

Synonyms

PKHDL1, D86 mRNA, fibrocystin L

MMRRC Submission

044155-MU

Accession Numbers

Genbank: NM_138674; MGI: 2183153

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5972 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44457494-44601369 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 44545416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 2433 (S2433N)

Ref Sequence

ENSEMBL: ENSMUSP00000147447 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000038336
AA Change: S2433N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036988
Gene: ENSMUSG00000038725
AA Change: S2433N

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 damaging
Transcript: ENSMUST00000166957
AA Change: S2433N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000129522
Gene: ENSMUSG00000038725
AA Change: S2433N

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 damaging
Transcript: ENSMUST00000209244
AA Change: S2433N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.1143

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	A	6: 58,672,085 (GRCm38)	M305K	probably benign	Het
Accs	G	T	2: 93,839,227 (GRCm38)	H283N	probably damaging	Het
Actl6b	A	T	5: 137,566,556 (GRCm38)	H283L	possibly damaging	Het
Adgra1	T	C	7: 139,845,667 (GRCm38)	L32P	probably damaging	Het
Afg3l2	G	T	18: 67,421,259 (GRCm38)	L458M	probably damaging	Het
Arfgef2	T	C	2: 166,891,836 (GRCm38)	I1672T	probably damaging	Het
Arntl2	A	G	6: 146,809,689 (GRCm38)	M64V	probably damaging	Het
Bambi	T	A	18: 3,512,354 (GRCm38)	V246E	probably damaging	Het
BC048679	A	G	7: 81,495,731 (GRCm38)	L29P	probably damaging	Het
Camk4	T	C	18: 33,107,926 (GRCm38)	L92P	probably damaging	Het
Ddx11	C	A	17: 66,148,090 (GRCm38)	Q655K	probably benign	Het
Ddx52	A	G	11: 83,953,225 (GRCm38)		probably null	Het
Eps8l3	T	C	3: 107,884,447 (GRCm38)		probably null	Het
Erap1	T	A	13: 74,662,304 (GRCm38)		probably null	Het
Fam189b	T	A	3: 89,185,808 (GRCm38)	V213D	probably damaging	Het
Flg	T	A	3: 93,279,542 (GRCm38)	N100K	probably benign	Het
Grip2	A	T	6: 91,807,281 (GRCm38)	V13E	probably benign	Het
Iars	T	C	13: 49,709,632 (GRCm38)	V520A	possibly damaging	Het
Impa1	A	G	3: 10,329,004 (GRCm38)	M1T	probably null	Het
Ip6k3	T	C	17: 27,149,960 (GRCm38)	T179A	possibly damaging	Het
Krt83	T	A	15: 101,487,586 (GRCm38)	M302L	probably benign	Het
Lrp8	T	C	4: 107,869,070 (GRCm38)	Y899H	probably damaging	Het
Lrpprc	A	T	17: 84,712,822 (GRCm38)	I1145N	possibly damaging	Het
Mapk11	A	T	15: 89,144,184 (GRCm38)	D324E	probably benign	Het
Melk	C	T	4: 44,351,007 (GRCm38)	T516I	probably benign	Het
Mia2	C	T	12: 59,146,937 (GRCm38)	H130Y	probably damaging	Het
Mroh5	C	T	15: 73,790,719 (GRCm38)		probably null	Het
Ncam1	T	C	9: 49,507,529 (GRCm38)	T824A	possibly damaging	Het
Neurog1	T	C	13: 56,251,398 (GRCm38)	S179G	probably damaging	Het
Ntrk2	T	A	13: 58,837,819 (GRCm38)	L79Q	probably damaging	Het
Patj	T	A	4: 98,569,053 (GRCm38)	M46K	probably damaging	Het
Pdcd6ip	T	C	9: 113,662,298 (GRCm38)	K626E	probably benign	Het
Pdss2	T	A	10: 43,298,926 (GRCm38)	Y143N	probably damaging	Het
Plekha5	A	G	6: 140,572,913 (GRCm38)	T309A	possibly damaging	Het
Prdm4	C	T	10: 85,907,501 (GRCm38)	V297M	probably damaging	Het
Rab15	T	C	12: 76,800,603 (GRCm38)	Y148C	probably damaging	Het
Ryr3	A	T	2: 112,834,064 (GRCm38)	N1627K	probably damaging	Het
Scn1a	G	T	2: 66,351,110 (GRCm38)	A23E	possibly damaging	Het
Smtn	A	T	11: 3,533,486 (GRCm38)	I30N	probably damaging	Het
Sympk	A	G	7: 19,046,824 (GRCm38)	K751E	probably benign	Het
Usp24	C	T	4: 106,368,067 (GRCm38)	P632L	probably damaging	Het
Vmn2r106	A	G	17: 20,278,476 (GRCm38)	I391T	probably benign	Het
Vmn2r54	C	T	7: 12,635,947 (GRCm38)	C63Y	probably damaging	Het
Vmn2r54	G	A	7: 12,615,352 (GRCm38)	P768S	probably damaging	Het
Zfhx3	T	G	8: 108,950,851 (GRCm38)	C2844W	possibly damaging	Het

Other mutations in Pkhd1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Pkhd1l1	APN	15	44,477,586 (GRCm38)	missense	probably damaging	1.00
IGL00235:Pkhd1l1	APN	15	44,556,019 (GRCm38)	missense	probably damaging	1.00
IGL00264:Pkhd1l1	APN	15	44,491,029 (GRCm38)	missense	possibly damaging	0.67
IGL00537:Pkhd1l1	APN	15	44,591,992 (GRCm38)	missense	possibly damaging	0.88
IGL00537:Pkhd1l1	APN	15	44,500,047 (GRCm38)	missense	probably benign	0.42
IGL00580:Pkhd1l1	APN	15	44,586,474 (GRCm38)	missense	probably damaging	0.98
IGL01085:Pkhd1l1	APN	15	44,562,752 (GRCm38)	splice site	probably null
IGL01089:Pkhd1l1	APN	15	44,483,869 (GRCm38)	splice site	probably benign
IGL01094:Pkhd1l1	APN	15	44,546,929 (GRCm38)	missense	probably benign	0.09
IGL01120:Pkhd1l1	APN	15	44,505,312 (GRCm38)	critical splice donor site	probably null
IGL01307:Pkhd1l1	APN	15	44,530,029 (GRCm38)	missense	possibly damaging	0.82
IGL01362:Pkhd1l1	APN	15	44,532,982 (GRCm38)	missense	probably benign	0.00
IGL01403:Pkhd1l1	APN	15	44,483,833 (GRCm38)	nonsense	probably null
IGL01546:Pkhd1l1	APN	15	44,566,316 (GRCm38)	missense	probably damaging	1.00
IGL01596:Pkhd1l1	APN	15	44,529,410 (GRCm38)	missense	possibly damaging	0.50
IGL01696:Pkhd1l1	APN	15	44,529,351 (GRCm38)	missense	possibly damaging	0.79
IGL01844:Pkhd1l1	APN	15	44,499,400 (GRCm38)	splice site	probably benign
IGL02007:Pkhd1l1	APN	15	44,533,733 (GRCm38)	splice site	probably benign
IGL02041:Pkhd1l1	APN	15	44,493,056 (GRCm38)	splice site	probably null
IGL02171:Pkhd1l1	APN	15	44,516,146 (GRCm38)	missense	possibly damaging	0.80
IGL02206:Pkhd1l1	APN	15	44,512,849 (GRCm38)	missense	probably benign	0.08
IGL02266:Pkhd1l1	APN	15	44,573,614 (GRCm38)	missense	probably damaging	1.00
IGL02487:Pkhd1l1	APN	15	44,459,426 (GRCm38)	missense	possibly damaging	0.65
IGL02488:Pkhd1l1	APN	15	44,558,597 (GRCm38)	missense	probably benign
IGL02522:Pkhd1l1	APN	15	44,555,902 (GRCm38)	missense	possibly damaging	0.71
IGL02554:Pkhd1l1	APN	15	44,578,500 (GRCm38)	missense	probably damaging	1.00
IGL02566:Pkhd1l1	APN	15	44,526,054 (GRCm38)	splice site	probably null
IGL02602:Pkhd1l1	APN	15	44,557,931 (GRCm38)	missense	probably damaging	1.00
IGL02606:Pkhd1l1	APN	15	44,589,456 (GRCm38)	missense	probably benign	0.00
IGL02623:Pkhd1l1	APN	15	44,584,873 (GRCm38)	missense	probably damaging	1.00
IGL02634:Pkhd1l1	APN	15	44,539,667 (GRCm38)	missense	probably damaging	1.00
IGL02637:Pkhd1l1	APN	15	44,564,324 (GRCm38)	missense	probably damaging	1.00
IGL02651:Pkhd1l1	APN	15	44,483,814 (GRCm38)	missense	probably damaging	1.00
IGL02679:Pkhd1l1	APN	15	44,530,045 (GRCm38)	critical splice donor site	probably null
IGL02684:Pkhd1l1	APN	15	44,516,209 (GRCm38)	critical splice donor site	probably null
IGL02739:Pkhd1l1	APN	15	44,540,950 (GRCm38)	missense	probably benign	0.11
IGL02831:Pkhd1l1	APN	15	44,501,493 (GRCm38)	missense	probably benign	0.18
IGL02839:Pkhd1l1	APN	15	44,529,543 (GRCm38)	missense	probably damaging	0.98
IGL02944:Pkhd1l1	APN	15	44,501,531 (GRCm38)	missense	probably damaging	1.00
IGL02957:Pkhd1l1	APN	15	44,512,908 (GRCm38)	missense	probably damaging	1.00
IGL03001:Pkhd1l1	APN	15	44,558,004 (GRCm38)	missense	probably damaging	1.00
IGL03030:Pkhd1l1	APN	15	44,596,902 (GRCm38)	missense	probably benign	0.41
IGL03030:Pkhd1l1	APN	15	44,591,976 (GRCm38)	missense	probably benign	0.00
IGL03132:Pkhd1l1	APN	15	44,574,617 (GRCm38)	missense	probably damaging	1.00
IGL03194:Pkhd1l1	APN	15	44,518,135 (GRCm38)	missense	probably damaging	1.00
IGL03219:Pkhd1l1	APN	15	44,596,895 (GRCm38)	missense	possibly damaging	0.62
IGL03236:Pkhd1l1	APN	15	44,581,826 (GRCm38)	missense	probably damaging	1.00
IGL03266:Pkhd1l1	APN	15	44,538,952 (GRCm38)	missense	probably damaging	1.00
IGL03276:Pkhd1l1	APN	15	44,594,584 (GRCm38)	missense	possibly damaging	0.77
IGL03284:Pkhd1l1	APN	15	44,547,518 (GRCm38)	splice site	probably benign
IGL03377:Pkhd1l1	APN	15	44,484,351 (GRCm38)	splice site	probably null
R0310_Pkhd1l1_251	UTSW	15	44,522,738 (GRCm38)	splice site	probably benign
R0344_Pkhd1l1_462	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R1737_Pkhd1l1_815	UTSW	15	44,547,509 (GRCm38)	critical splice donor site	probably null
R5049_Pkhd1l1_556	UTSW	15	44,457,616 (GRCm38)	missense	probably benign	0.00
K7371:Pkhd1l1	UTSW	15	44,500,067 (GRCm38)	missense	possibly damaging	0.94
K7371:Pkhd1l1	UTSW	15	44,537,442 (GRCm38)	missense	possibly damaging	0.67
N/A - 287:Pkhd1l1	UTSW	15	44,582,258 (GRCm38)	missense	probably damaging	0.98
P4717OSA:Pkhd1l1	UTSW	15	44,528,247 (GRCm38)	missense	probably damaging	1.00
P4717OSA:Pkhd1l1	UTSW	15	44,523,499 (GRCm38)	missense	probably benign	0.17
R0007:Pkhd1l1	UTSW	15	44,574,398 (GRCm38)	splice site	probably benign
R0020:Pkhd1l1	UTSW	15	44,556,872 (GRCm38)	missense	probably damaging	1.00
R0034:Pkhd1l1	UTSW	15	44,504,009 (GRCm38)	missense	probably benign	0.00
R0040:Pkhd1l1	UTSW	15	44,573,625 (GRCm38)	missense	probably damaging	1.00
R0050:Pkhd1l1	UTSW	15	44,573,807 (GRCm38)	missense	possibly damaging	0.79
R0050:Pkhd1l1	UTSW	15	44,573,807 (GRCm38)	missense	possibly damaging	0.79
R0063:Pkhd1l1	UTSW	15	44,529,237 (GRCm38)	missense	probably damaging	1.00
R0063:Pkhd1l1	UTSW	15	44,529,237 (GRCm38)	missense	probably damaging	1.00
R0086:Pkhd1l1	UTSW	15	44,556,008 (GRCm38)	missense	possibly damaging	0.94
R0103:Pkhd1l1	UTSW	15	44,597,141 (GRCm38)	missense	probably benign
R0103:Pkhd1l1	UTSW	15	44,597,141 (GRCm38)	missense	probably benign
R0127:Pkhd1l1	UTSW	15	44,554,605 (GRCm38)	missense	probably damaging	0.99
R0226:Pkhd1l1	UTSW	15	44,526,784 (GRCm38)	missense	possibly damaging	0.65
R0268:Pkhd1l1	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R0294:Pkhd1l1	UTSW	15	44,560,435 (GRCm38)	missense	probably benign	0.05
R0310:Pkhd1l1	UTSW	15	44,522,738 (GRCm38)	splice site	probably benign
R0344:Pkhd1l1	UTSW	15	44,597,011 (GRCm38)	missense	probably benign	0.15
R0449:Pkhd1l1	UTSW	15	44,501,519 (GRCm38)	missense	probably damaging	1.00
R0492:Pkhd1l1	UTSW	15	44,519,690 (GRCm38)	missense	probably benign	0.03
R0505:Pkhd1l1	UTSW	15	44,589,418 (GRCm38)	missense	probably damaging	1.00
R0529:Pkhd1l1	UTSW	15	44,526,754 (GRCm38)	missense	possibly damaging	0.62
R0543:Pkhd1l1	UTSW	15	44,523,491 (GRCm38)	critical splice acceptor site	probably null
R0552:Pkhd1l1	UTSW	15	44,489,546 (GRCm38)	missense	probably damaging	0.98
R0558:Pkhd1l1	UTSW	15	44,484,424 (GRCm38)	missense	probably damaging	0.97
R0609:Pkhd1l1	UTSW	15	44,467,424 (GRCm38)	missense	possibly damaging	0.48
R0619:Pkhd1l1	UTSW	15	44,483,838 (GRCm38)	missense	probably damaging	1.00
R0727:Pkhd1l1	UTSW	15	44,535,788 (GRCm38)	missense	possibly damaging	0.80
R0787:Pkhd1l1	UTSW	15	44,529,264 (GRCm38)	missense	probably damaging	1.00
R0846:Pkhd1l1	UTSW	15	44,495,597 (GRCm38)	missense	probably damaging	1.00
R0909:Pkhd1l1	UTSW	15	44,538,883 (GRCm38)	splice site	probably null
R0942:Pkhd1l1	UTSW	15	44,532,959 (GRCm38)	missense	probably benign	0.01
R1056:Pkhd1l1	UTSW	15	44,591,964 (GRCm38)	missense	probably damaging	1.00
R1147:Pkhd1l1	UTSW	15	44,537,441 (GRCm38)	missense	probably null	0.15
R1147:Pkhd1l1	UTSW	15	44,537,441 (GRCm38)	missense	probably null	0.15
R1187:Pkhd1l1	UTSW	15	44,498,051 (GRCm38)	missense	possibly damaging	0.65
R1328:Pkhd1l1	UTSW	15	44,497,996 (GRCm38)	missense	probably benign	0.01
R1331:Pkhd1l1	UTSW	15	44,589,597 (GRCm38)	missense	probably damaging	1.00
R1331:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1332:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1335:Pkhd1l1	UTSW	15	44,505,547 (GRCm38)	missense	probably damaging	1.00
R1338:Pkhd1l1	UTSW	15	44,526,724 (GRCm38)	missense	probably damaging	1.00
R1440:Pkhd1l1	UTSW	15	44,540,988 (GRCm38)	splice site	probably benign
R1445:Pkhd1l1	UTSW	15	44,505,644 (GRCm38)	missense	probably benign	0.32
R1458:Pkhd1l1	UTSW	15	44,516,115 (GRCm38)	missense	probably benign	0.01
R1469:Pkhd1l1	UTSW	15	44,536,886 (GRCm38)	missense	probably benign	0.45
R1469:Pkhd1l1	UTSW	15	44,536,886 (GRCm38)	missense	probably benign	0.45
R1500:Pkhd1l1	UTSW	15	44,545,494 (GRCm38)	missense	probably damaging	1.00
R1528:Pkhd1l1	UTSW	15	44,526,724 (GRCm38)	missense	probably damaging	1.00
R1542:Pkhd1l1	UTSW	15	44,528,191 (GRCm38)	missense	probably benign	0.44
R1568:Pkhd1l1	UTSW	15	44,545,501 (GRCm38)	splice site	probably null
R1571:Pkhd1l1	UTSW	15	44,526,841 (GRCm38)	missense	probably benign
R1572:Pkhd1l1	UTSW	15	44,543,473 (GRCm38)	missense	probably benign	0.01
R1604:Pkhd1l1	UTSW	15	44,467,367 (GRCm38)	nonsense	probably null
R1638:Pkhd1l1	UTSW	15	44,597,117 (GRCm38)	missense	probably benign	0.06
R1639:Pkhd1l1	UTSW	15	44,540,955 (GRCm38)	missense	probably damaging	0.99
R1737:Pkhd1l1	UTSW	15	44,547,509 (GRCm38)	critical splice donor site	probably null
R1816:Pkhd1l1	UTSW	15	44,528,239 (GRCm38)	missense	possibly damaging	0.91
R1826:Pkhd1l1	UTSW	15	44,503,345 (GRCm38)	missense	possibly damaging	0.75
R1880:Pkhd1l1	UTSW	15	44,525,242 (GRCm38)	missense	probably benign	0.13
R1930:Pkhd1l1	UTSW	15	44,503,337 (GRCm38)	missense	possibly damaging	0.69
R1933:Pkhd1l1	UTSW	15	44,540,884 (GRCm38)	missense	possibly damaging	0.48
R1938:Pkhd1l1	UTSW	15	44,500,038 (GRCm38)	missense	probably benign
R1975:Pkhd1l1	UTSW	15	44,529,713 (GRCm38)	missense	probably damaging	1.00
R1999:Pkhd1l1	UTSW	15	44,499,982 (GRCm38)	splice site	probably null
R2037:Pkhd1l1	UTSW	15	44,568,221 (GRCm38)	splice site	probably null
R2045:Pkhd1l1	UTSW	15	44,479,654 (GRCm38)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,581,741 (GRCm38)	missense	probably damaging	1.00
R2049:Pkhd1l1	UTSW	15	44,547,513 (GRCm38)	splice site	probably benign
R2063:Pkhd1l1	UTSW	15	44,550,752 (GRCm38)	missense	possibly damaging	0.69
R2072:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2073:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2075:Pkhd1l1	UTSW	15	44,558,639 (GRCm38)	missense	probably damaging	1.00
R2078:Pkhd1l1	UTSW	15	44,527,767 (GRCm38)	missense	probably benign	0.08
R2116:Pkhd1l1	UTSW	15	44,569,482 (GRCm38)	missense	probably damaging	0.97
R2133:Pkhd1l1	UTSW	15	44,516,185 (GRCm38)	missense	possibly damaging	0.91
R2138:Pkhd1l1	UTSW	15	44,501,457 (GRCm38)	missense	probably damaging	1.00
R2139:Pkhd1l1	UTSW	15	44,529,818 (GRCm38)	missense	possibly damaging	0.46
R2145:Pkhd1l1	UTSW	15	44,512,877 (GRCm38)	splice site	probably null
R2150:Pkhd1l1	UTSW	15	44,499,982 (GRCm38)	splice site	probably null
R2177:Pkhd1l1	UTSW	15	44,459,395 (GRCm38)	missense	probably benign
R2184:Pkhd1l1	UTSW	15	44,499,296 (GRCm38)	missense	possibly damaging	0.89
R2216:Pkhd1l1	UTSW	15	44,573,895 (GRCm38)	missense	probably damaging	1.00
R2226:Pkhd1l1	UTSW	15	44,512,792 (GRCm38)	missense	possibly damaging	0.79
R2227:Pkhd1l1	UTSW	15	44,512,792 (GRCm38)	missense	possibly damaging	0.79
R2243:Pkhd1l1	UTSW	15	44,546,927 (GRCm38)	missense	probably damaging	1.00
R2290:Pkhd1l1	UTSW	15	44,528,250 (GRCm38)	missense	probably benign	0.03
R2294:Pkhd1l1	UTSW	15	44,479,607 (GRCm38)	missense	probably damaging	0.99
R2346:Pkhd1l1	UTSW	15	44,560,506 (GRCm38)	missense	possibly damaging	0.82
R2356:Pkhd1l1	UTSW	15	44,533,019 (GRCm38)	missense	probably benign	0.00
R2386:Pkhd1l1	UTSW	15	44,528,178 (GRCm38)	missense	probably benign	0.00
R2404:Pkhd1l1	UTSW	15	44,550,820 (GRCm38)	missense	probably damaging	1.00
R2504:Pkhd1l1	UTSW	15	44,485,428 (GRCm38)	missense	probably damaging	0.97
R2679:Pkhd1l1	UTSW	15	44,545,386 (GRCm38)	missense	probably damaging	0.99
R2860:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2861:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2862:Pkhd1l1	UTSW	15	44,540,871 (GRCm38)	missense	probably damaging	1.00
R2972:Pkhd1l1	UTSW	15	44,547,248 (GRCm38)	missense	possibly damaging	0.65
R3016:Pkhd1l1	UTSW	15	44,545,370 (GRCm38)	missense	probably benign	0.02
R3162:Pkhd1l1	UTSW	15	44,505,528 (GRCm38)	missense	probably damaging	1.00
R3162:Pkhd1l1	UTSW	15	44,505,528 (GRCm38)	missense	probably damaging	1.00
R3416:Pkhd1l1	UTSW	15	44,547,364 (GRCm38)	missense	probably damaging	1.00
R3623:Pkhd1l1	UTSW	15	44,526,869 (GRCm38)	missense	probably damaging	1.00
R3687:Pkhd1l1	UTSW	15	44,546,587 (GRCm38)	missense	probably benign	0.17
R3755:Pkhd1l1	UTSW	15	44,589,406 (GRCm38)	missense	probably damaging	1.00
R3776:Pkhd1l1	UTSW	15	44,514,975 (GRCm38)	critical splice donor site	probably null
R3803:Pkhd1l1	UTSW	15	44,493,135 (GRCm38)	missense	probably benign	0.25
R3942:Pkhd1l1	UTSW	15	44,592,026 (GRCm38)	critical splice donor site	probably null
R4010:Pkhd1l1	UTSW	15	44,529,100 (GRCm38)	missense	possibly damaging	0.80
R4049:Pkhd1l1	UTSW	15	44,498,557 (GRCm38)	missense	probably damaging	1.00
R4059:Pkhd1l1	UTSW	15	44,550,760 (GRCm38)	missense	probably benign	0.01
R4179:Pkhd1l1	UTSW	15	44,523,649 (GRCm38)	missense	probably benign	0.45
R4184:Pkhd1l1	UTSW	15	44,591,906 (GRCm38)	missense	probably benign	0.00
R4369:Pkhd1l1	UTSW	15	44,505,553 (GRCm38)	missense	probably benign	0.00
R4462:Pkhd1l1	UTSW	15	44,581,804 (GRCm38)	missense	probably damaging	1.00
R4551:Pkhd1l1	UTSW	15	44,550,885 (GRCm38)	missense	probably damaging	1.00
R4618:Pkhd1l1	UTSW	15	44,539,682 (GRCm38)	missense	probably damaging	1.00
R4632:Pkhd1l1	UTSW	15	44,484,400 (GRCm38)	missense	probably benign	0.07
R4657:Pkhd1l1	UTSW	15	44,547,347 (GRCm38)	missense	probably damaging	1.00
R4716:Pkhd1l1	UTSW	15	44,556,032 (GRCm38)	missense	probably damaging	1.00
R4788:Pkhd1l1	UTSW	15	44,498,021 (GRCm38)	missense	probably damaging	0.99
R4828:Pkhd1l1	UTSW	15	44,529,405 (GRCm38)	missense	possibly damaging	0.55
R4858:Pkhd1l1	UTSW	15	44,491,101 (GRCm38)	missense	probably damaging	0.99
R4860:Pkhd1l1	UTSW	15	44,537,378 (GRCm38)	missense	possibly damaging	0.77
R4860:Pkhd1l1	UTSW	15	44,537,378 (GRCm38)	missense	possibly damaging	0.77
R4951:Pkhd1l1	UTSW	15	44,533,891 (GRCm38)	missense	possibly damaging	0.82
R4963:Pkhd1l1	UTSW	15	44,504,025 (GRCm38)	missense	probably benign	0.00
R5023:Pkhd1l1	UTSW	15	44,528,191 (GRCm38)	missense	probably benign	0.44
R5023:Pkhd1l1	UTSW	15	44,582,227 (GRCm38)	missense	probably benign	0.00
R5035:Pkhd1l1	UTSW	15	44,568,324 (GRCm38)	missense	probably damaging	1.00
R5049:Pkhd1l1	UTSW	15	44,457,616 (GRCm38)	missense	probably benign	0.00
R5065:Pkhd1l1	UTSW	15	44,582,293 (GRCm38)	missense	possibly damaging	0.68
R5089:Pkhd1l1	UTSW	15	44,591,887 (GRCm38)	missense	probably benign	0.01
R5151:Pkhd1l1	UTSW	15	44,505,309 (GRCm38)	missense	probably benign	0.00
R5153:Pkhd1l1	UTSW	15	44,505,309 (GRCm38)	missense	probably benign	0.00
R5189:Pkhd1l1	UTSW	15	44,547,148 (GRCm38)	missense	probably damaging	1.00
R5204:Pkhd1l1	UTSW	15	44,547,041 (GRCm38)	missense	possibly damaging	0.51
R5216:Pkhd1l1	UTSW	15	44,495,647 (GRCm38)	nonsense	probably null
R5286:Pkhd1l1	UTSW	15	44,514,972 (GRCm38)	nonsense	probably null
R5292:Pkhd1l1	UTSW	15	44,529,566 (GRCm38)	missense	probably damaging	1.00
R5293:Pkhd1l1	UTSW	15	44,535,750 (GRCm38)	missense	probably benign	0.01
R5298:Pkhd1l1	UTSW	15	44,504,046 (GRCm38)	missense	probably benign	0.00
R5327:Pkhd1l1	UTSW	15	44,546,862 (GRCm38)	missense	probably damaging	1.00
R5346:Pkhd1l1	UTSW	15	44,540,967 (GRCm38)	missense	probably damaging	1.00
R5481:Pkhd1l1	UTSW	15	44,558,646 (GRCm38)	missense	probably damaging	1.00
R5645:Pkhd1l1	UTSW	15	44,532,992 (GRCm38)	missense	probably benign	0.18
R5718:Pkhd1l1	UTSW	15	44,545,417 (GRCm38)	missense	probably damaging	1.00
R5809:Pkhd1l1	UTSW	15	44,519,707 (GRCm38)	missense	probably benign	0.03
R5816:Pkhd1l1	UTSW	15	44,566,322 (GRCm38)	missense	probably benign	0.01
R5854:Pkhd1l1	UTSW	15	44,581,790 (GRCm38)	missense	probably damaging	1.00
R5876:Pkhd1l1	UTSW	15	44,578,588 (GRCm38)	missense	possibly damaging	0.51
R5909:Pkhd1l1	UTSW	15	44,526,763 (GRCm38)	missense	probably damaging	1.00
R5950:Pkhd1l1	UTSW	15	44,532,965 (GRCm38)	missense	probably benign	0.00
R5961:Pkhd1l1	UTSW	15	44,459,463 (GRCm38)	missense	probably damaging	1.00
R5975:Pkhd1l1	UTSW	15	44,525,988 (GRCm38)	missense	probably damaging	1.00
R5982:Pkhd1l1	UTSW	15	44,489,504 (GRCm38)	splice site	probably null
R6066:Pkhd1l1	UTSW	15	44,528,129 (GRCm38)	missense	probably damaging	0.99
R6122:Pkhd1l1	UTSW	15	44,557,940 (GRCm38)	missense	probably damaging	1.00
R6248:Pkhd1l1	UTSW	15	44,529,559 (GRCm38)	missense	probably benign
R6294:Pkhd1l1	UTSW	15	44,570,028 (GRCm38)	missense	probably damaging	1.00
R6301:Pkhd1l1	UTSW	15	44,589,525 (GRCm38)	missense	probably damaging	0.99
R6526:Pkhd1l1	UTSW	15	44,498,089 (GRCm38)	critical splice donor site	probably null
R6707:Pkhd1l1	UTSW	15	44,529,143 (GRCm38)	missense	probably benign
R6736:Pkhd1l1	UTSW	15	44,557,940 (GRCm38)	missense	probably damaging	1.00
R6753:Pkhd1l1	UTSW	15	44,589,663 (GRCm38)	missense	probably benign	0.45
R6815:Pkhd1l1	UTSW	15	44,562,655 (GRCm38)	missense	probably damaging	1.00
R6874:Pkhd1l1	UTSW	15	44,589,527 (GRCm38)	missense	probably benign	0.06
R6942:Pkhd1l1	UTSW	15	44,522,629 (GRCm38)	missense	probably damaging	1.00
R6970:Pkhd1l1	UTSW	15	44,511,674 (GRCm38)	missense	possibly damaging	0.61
R6982:Pkhd1l1	UTSW	15	44,566,268 (GRCm38)	missense	probably damaging	0.97
R7103:Pkhd1l1	UTSW	15	44,573,631 (GRCm38)	missense	probably benign	0.02
R7116:Pkhd1l1	UTSW	15	44,557,976 (GRCm38)	missense	probably benign	0.00
R7135:Pkhd1l1	UTSW	15	44,584,978 (GRCm38)	critical splice donor site	probably null
R7143:Pkhd1l1	UTSW	15	44,573,637 (GRCm38)	missense	possibly damaging	0.93
R7177:Pkhd1l1	UTSW	15	44,467,404 (GRCm38)	missense	probably damaging	1.00
R7194:Pkhd1l1	UTSW	15	44,529,116 (GRCm38)	missense	probably damaging	1.00
R7204:Pkhd1l1	UTSW	15	44,523,553 (GRCm38)	missense	possibly damaging	0.90
R7215:Pkhd1l1	UTSW	15	44,528,163 (GRCm38)	missense	possibly damaging	0.78
R7218:Pkhd1l1	UTSW	15	44,522,695 (GRCm38)	missense	possibly damaging	0.49
R7225:Pkhd1l1	UTSW	15	44,546,941 (GRCm38)	missense	probably damaging	1.00
R7283:Pkhd1l1	UTSW	15	44,503,280 (GRCm38)	missense	probably benign	0.10
R7292:Pkhd1l1	UTSW	15	44,498,590 (GRCm38)	missense	probably benign
R7304:Pkhd1l1	UTSW	15	44,498,482 (GRCm38)	missense	possibly damaging	0.94
R7349:Pkhd1l1	UTSW	15	44,514,954 (GRCm38)	missense	probably damaging	1.00
R7359:Pkhd1l1	UTSW	15	44,589,486 (GRCm38)	missense	probably damaging	1.00
R7407:Pkhd1l1	UTSW	15	44,595,011 (GRCm38)	missense	possibly damaging	0.75
R7475:Pkhd1l1	UTSW	15	44,505,185 (GRCm38)	nonsense	probably null
R7481:Pkhd1l1	UTSW	15	44,512,911 (GRCm38)	missense	probably benign
R7554:Pkhd1l1	UTSW	15	44,495,470 (GRCm38)	missense	probably damaging	1.00
R7555:Pkhd1l1	UTSW	15	44,550,761 (GRCm38)	missense	possibly damaging	0.51
R7562:Pkhd1l1	UTSW	15	44,514,930 (GRCm38)	missense	possibly damaging	0.68
R7583:Pkhd1l1	UTSW	15	44,568,364 (GRCm38)	critical splice donor site	probably null
R7595:Pkhd1l1	UTSW	15	44,495,521 (GRCm38)	missense	probably damaging	1.00
R7749:Pkhd1l1	UTSW	15	44,527,737 (GRCm38)	missense	probably benign	0.00
R7754:Pkhd1l1	UTSW	15	44,586,408 (GRCm38)	missense	possibly damaging	0.94
R7761:Pkhd1l1	UTSW	15	44,529,884 (GRCm38)	missense	probably benign	0.00
R7774:Pkhd1l1	UTSW	15	44,540,907 (GRCm38)	missense	probably benign	0.03
R7785:Pkhd1l1	UTSW	15	44,543,569 (GRCm38)	missense	probably damaging	1.00
R7790:Pkhd1l1	UTSW	15	44,578,581 (GRCm38)	missense	probably damaging	1.00
R7804:Pkhd1l1	UTSW	15	44,597,138 (GRCm38)	nonsense	probably null
R7864:Pkhd1l1	UTSW	15	44,526,053 (GRCm38)	critical splice donor site	probably null
R7883:Pkhd1l1	UTSW	15	44,529,126 (GRCm38)	missense	probably damaging	1.00
R8031:Pkhd1l1	UTSW	15	44,512,834 (GRCm38)	missense	probably damaging	1.00
R8128:Pkhd1l1	UTSW	15	44,498,053 (GRCm38)	missense	possibly damaging	0.94
R8142:Pkhd1l1	UTSW	15	44,514,931 (GRCm38)	missense	probably benign	0.00
R8150:Pkhd1l1	UTSW	15	44,546,659 (GRCm38)	missense	possibly damaging	0.68
R8209:Pkhd1l1	UTSW	15	44,574,407 (GRCm38)	missense	possibly damaging	0.46
R8212:Pkhd1l1	UTSW	15	44,499,300 (GRCm38)	missense	probably benign	0.12
R8226:Pkhd1l1	UTSW	15	44,574,407 (GRCm38)	missense	possibly damaging	0.46
R8248:Pkhd1l1	UTSW	15	44,543,546 (GRCm38)	missense	probably damaging	0.99
R8299:Pkhd1l1	UTSW	15	44,581,934 (GRCm38)	missense	probably benign	0.26
R8425:Pkhd1l1	UTSW	15	44,574,515 (GRCm38)	missense	probably benign	0.01
R8485:Pkhd1l1	UTSW	15	44,560,400 (GRCm38)	missense	probably damaging	0.98
R8486:Pkhd1l1	UTSW	15	44,547,416 (GRCm38)	missense	probably damaging	1.00
R8701:Pkhd1l1	UTSW	15	44,574,683 (GRCm38)	missense	probably damaging	1.00
R8709:Pkhd1l1	UTSW	15	44,518,174 (GRCm38)	missense	probably benign	0.01
R8777:Pkhd1l1	UTSW	15	44,498,571 (GRCm38)	missense	probably damaging	1.00
R8777-TAIL:Pkhd1l1	UTSW	15	44,498,571 (GRCm38)	missense	probably damaging	1.00
R8845:Pkhd1l1	UTSW	15	44,505,254 (GRCm38)	missense	probably benign	0.30
R8846:Pkhd1l1	UTSW	15	44,546,962 (GRCm38)	nonsense	probably null
R8863:Pkhd1l1	UTSW	15	44,569,986 (GRCm38)	nonsense	probably null
R8917:Pkhd1l1	UTSW	15	44,533,007 (GRCm38)	missense	probably benign	0.04
R8936:Pkhd1l1	UTSW	15	44,538,916 (GRCm38)	missense	possibly damaging	0.94
R8962:Pkhd1l1	UTSW	15	44,536,895 (GRCm38)	missense	probably damaging	1.00
R8971:Pkhd1l1	UTSW	15	44,529,519 (GRCm38)	missense	possibly damaging	0.68
R8973:Pkhd1l1	UTSW	15	44,586,437 (GRCm38)	missense	probably damaging	1.00
R8982:Pkhd1l1	UTSW	15	44,523,673 (GRCm38)	nonsense	probably null
R8994:Pkhd1l1	UTSW	15	44,547,103 (GRCm38)	missense	probably damaging	0.99
R9004:Pkhd1l1	UTSW	15	44,543,372 (GRCm38)	missense	probably benign	0.16
R9064:Pkhd1l1	UTSW	15	44,562,642 (GRCm38)	missense	possibly damaging	0.93
R9173:Pkhd1l1	UTSW	15	44,520,756 (GRCm38)	missense	probably benign	0.09
R9185:Pkhd1l1	UTSW	15	44,589,623 (GRCm38)	missense	probably benign	0.01
R9213:Pkhd1l1	UTSW	15	44,495,478 (GRCm38)	missense	probably damaging	1.00
R9218:Pkhd1l1	UTSW	15	44,520,726 (GRCm38)	missense	possibly damaging	0.90
R9256:Pkhd1l1	UTSW	15	44,533,894 (GRCm38)	critical splice donor site	probably null
R9291:Pkhd1l1	UTSW	15	44,569,976 (GRCm38)	missense	probably damaging	1.00
R9309:Pkhd1l1	UTSW	15	44,536,893 (GRCm38)	missense	probably benign	0.00
R9319:Pkhd1l1	UTSW	15	44,529,578 (GRCm38)	missense	possibly damaging	0.46
R9339:Pkhd1l1	UTSW	15	44,589,553 (GRCm38)	missense	probably damaging	1.00
R9366:Pkhd1l1	UTSW	15	44,546,912 (GRCm38)	missense	probably benign	0.03
R9444:Pkhd1l1	UTSW	15	44,554,657 (GRCm38)	missense	probably benign	0.00
R9464:Pkhd1l1	UTSW	15	44,479,613 (GRCm38)	missense	probably damaging	1.00
R9525:Pkhd1l1	UTSW	15	44,584,926 (GRCm38)	missense	possibly damaging	0.88
R9542:Pkhd1l1	UTSW	15	44,546,888 (GRCm38)	missense	probably benign	0.12
R9544:Pkhd1l1	UTSW	15	44,546,843 (GRCm38)	missense	probably damaging	1.00
R9608:Pkhd1l1	UTSW	15	44,578,633 (GRCm38)	missense	possibly damaging	0.65
R9673:Pkhd1l1	UTSW	15	44,523,505 (GRCm38)	missense	probably benign	0.22
R9771:Pkhd1l1	UTSW	15	44,495,487 (GRCm38)	missense	probably benign
R9792:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
R9793:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
R9795:Pkhd1l1	UTSW	15	44,543,587 (GRCm38)	missense	probably benign	0.00
RF006:Pkhd1l1	UTSW	15	44,558,507 (GRCm38)	critical splice acceptor site	probably benign
RF006:Pkhd1l1	UTSW	15	44,503,238 (GRCm38)	missense	probably benign	0.03
RF008:Pkhd1l1	UTSW	15	44,558,505 (GRCm38)	critical splice acceptor site	probably benign
RF012:Pkhd1l1	UTSW	15	44,558,505 (GRCm38)	critical splice acceptor site	probably benign
RF019:Pkhd1l1	UTSW	15	44,558,507 (GRCm38)	critical splice acceptor site	probably benign
RF030:Pkhd1l1	UTSW	15	44,558,502 (GRCm38)	critical splice acceptor site	probably benign
RF033:Pkhd1l1	UTSW	15	44,558,506 (GRCm38)	critical splice acceptor site	probably benign
RF038:Pkhd1l1	UTSW	15	44,558,503 (GRCm38)	critical splice acceptor site	probably benign
RF046:Pkhd1l1	UTSW	15	44,558,495 (GRCm38)	critical splice acceptor site	probably benign
X0027:Pkhd1l1	UTSW	15	44,591,966 (GRCm38)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,578,578 (GRCm38)	missense	probably damaging	0.99
Z1177:Pkhd1l1	UTSW	15	44,573,576 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGCAAATTAGGCTGTCAGGC -3'
(R):5'- TCCAATTGGAAGTAGAGTATGGC -3'

Sequencing Primer
(F):5'- CTGTCAGGCTCTAGTGCTATACAAG -3'
(R):5'- TAGAGTATGGCAAACACCAGAAGCTC -3'

Posted On

2017-03-31