Mutagenetix > Incidental Mutation

Incidental Mutation 'R4740:Pkhd1'

359574

Institutional Source

Beutler Lab

Gene Symbol

Pkhd1

Ensembl Gene

ENSMUSG00000043760

Gene Name

polycystic kidney and hepatic disease 1

Synonyms

FPC, tigmin

MMRRC Submission

041965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

R4740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20128003-20688288 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20594354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1253 (V1253A)

Ref Sequence

ENSEMBL: ENSMUSP00000085794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088448]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088448
AA Change: V1253A

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

SMART Domains

Protein: ENSMUSP00000085794
Gene: ENSMUSG00000043760
AA Change: V1253A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Blast:IPT	134	254	1e-45	BLAST
IPT	256	353	1.13e-3	SMART
low complexity region	722	743	N/A	INTRINSIC
low complexity region	896	909	N/A	INTRINSIC
Pfam:TIG	936	1005	9.1e-8	PFAM
IPT	1016	1101	1.18e-6	SMART
IPT	1105	1190	1.27e0	SMART
IPT	1193	1290	7.05e-5	SMART
IPT	1384	1467	1.36e1	SMART
IPT	1568	1655	2.4e0	SMART
low complexity region	1881	1892	N/A	INTRINSIC
G8	1928	2049	1.15e-48	SMART
low complexity region	2079	2094	N/A	INTRINSIC
PbH1	2244	2266	7.82e3	SMART
PbH1	2287	2321	2.23e3	SMART
PbH1	2404	2426	7.19e2	SMART
PbH1	2459	2481	2.64e2	SMART
low complexity region	2713	2728	N/A	INTRINSIC
G8	2734	2867	1.73e-43	SMART
Blast:G8	2876	2923	2e-17	BLAST
PbH1	3004	3026	3.98e3	SMART
PbH1	3027	3049	1.27e0	SMART
PbH1	3080	3102	5.92e2	SMART
low complexity region	3178	3187	N/A	INTRINSIC
PbH1	3188	3212	8.08e3	SMART
transmembrane domain	3852	3874	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (95/95)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a mutation in this gene display variable progressive liver cysts and fibrosis, but do not display kidney cysts and are fertile. Mice homozygous for a hypomorphic and null allele display renal, pancreatic, billiary and liver cysts. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	C	T	16: 21,513,146 (GRCm39)	A4T	probably benign	Het
Aacs	T	C	5: 125,583,316 (GRCm39)	S291P	probably damaging	Het
Abcb1a	T	C	5: 8,752,280 (GRCm39)		probably null	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Baiap2l2	T	A	15: 79,143,951 (GRCm39)	Y381F	probably benign	Het
Chd6	A	T	2: 160,812,103 (GRCm39)	D1363E	probably benign	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cir1	T	C	2: 73,142,867 (GRCm39)		probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Clec4d	T	A	6: 123,245,072 (GRCm39)	H117Q	probably damaging	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Coro6	A	G	11: 77,360,025 (GRCm39)	E362G	possibly damaging	Het
Ctr9	T	A	7: 110,634,578 (GRCm39)	C196S	probably benign	Het
Cyp2c55	A	G	19: 39,007,173 (GRCm39)	K190E	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dnah11	A	G	12: 118,084,279 (GRCm39)	F1242L	probably benign	Het
Dnah2	A	G	11: 69,348,868 (GRCm39)	W2534R	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Eml4	T	G	17: 83,717,459 (GRCm39)	D10E	probably damaging	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Epn1	A	G	7: 5,093,012 (GRCm39)	D108G	probably damaging	Het
Eps15	A	G	4: 109,200,387 (GRCm39)	Y2C	probably damaging	Het
Fam135b	C	T	15: 71,335,920 (GRCm39)	V425I	probably benign	Het
Frem2	G	A	3: 53,443,240 (GRCm39)	A2508V	probably benign	Het
Fzd3	T	A	14: 65,473,193 (GRCm39)	M192L	possibly damaging	Het
Gls	C	T	1: 52,271,947 (GRCm39)	A69T	probably damaging	Het
Gm10051	T	A	5: 133,504,113 (GRCm39)		noncoding transcript	Het
Gm9271	A	G	7: 39,013,346 (GRCm39)		noncoding transcript	Het
Gramd1b	T	C	9: 40,227,128 (GRCm39)		probably null	Het
Gvin-ps6	G	A	7: 106,022,782 (GRCm39)		noncoding transcript	Het
H2-T23	A	T	17: 36,343,016 (GRCm39)		probably benign	Het
H2-T5	T	A	17: 36,478,448 (GRCm39)	I195F	probably damaging	Het
Hmbox1	G	A	14: 65,134,483 (GRCm39)	T39I	probably damaging	Het
Hmx1	A	G	5: 35,549,115 (GRCm39)	E136G	probably damaging	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	G	8: 111,173,071 (GRCm39)	N918S	probably benign	Het
Igkv5-37	T	A	6: 69,940,306 (GRCm39)	S113C	probably damaging	Het
Il36rn	T	C	2: 24,167,503 (GRCm39)		probably benign	Het
Mab21l4	A	C	1: 93,083,890 (GRCm39)	M189R	probably benign	Het
Marco	G	T	1: 120,422,499 (GRCm39)	T61K	probably damaging	Het
Med1	T	A	11: 98,071,090 (GRCm39)	R86*	probably null	Het
Mertk	A	G	2: 128,593,914 (GRCm39)	Y306C	probably damaging	Het
Mgat4c	T	C	10: 102,224,265 (GRCm39)	F160L	probably damaging	Het
Midn	A	T	10: 79,987,238 (GRCm39)	E88V	probably null	Het
Muc4	G	A	16: 32,596,277 (GRCm39)	R3163H	possibly damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nhlrc4	T	C	17: 26,162,577 (GRCm39)	T57A	probably benign	Het
Nlrp1a	T	C	11: 71,004,466 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,730,879 (GRCm39)	K270*	probably null	Het
Or10a3	T	G	7: 108,480,689 (GRCm39)	E41D	probably benign	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or8g26	T	A	9: 39,095,664 (GRCm39)	Y60*	probably null	Het
Or8k40	C	T	2: 86,584,155 (GRCm39)	C309Y	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pabpc4l	C	G	3: 46,400,570 (GRCm39)	G358A	possibly damaging	Het
Pabpc4l	C	T	3: 46,400,579 (GRCm39)	R355H	probably benign	Het
Parp1	T	C	1: 180,417,033 (GRCm39)	S606P	probably damaging	Het
Psg29	G	A	7: 16,942,458 (GRCm39)	R153H	probably benign	Het
Rbm25	A	G	12: 83,691,181 (GRCm39)	M58V	possibly damaging	Het
Rbm28	T	C	6: 29,125,353 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,671,933 (GRCm39)	S3436P	possibly damaging	Het
Slc3a1	A	G	17: 85,354,181 (GRCm39)	I335V	probably benign	Het
Slc4a4	T	C	5: 89,373,753 (GRCm39)	F953S	probably damaging	Het
Spata20	A	G	11: 94,375,404 (GRCm39)	I130T	possibly damaging	Het
Spata31h1	T	C	10: 82,119,481 (GRCm39)	T4510A	possibly damaging	Het
Srcap	T	C	7: 127,148,471 (GRCm39)	S1879P	probably damaging	Het
St18	G	C	1: 6,887,828 (GRCm39)	V466L	probably benign	Het
Stard3nl	A	T	13: 19,551,948 (GRCm39)	M166K	probably benign	Het
Stard3nl	G	A	13: 19,560,736 (GRCm39)	T13M	probably damaging	Het
Stil	A	G	4: 114,863,979 (GRCm39)	T74A	probably benign	Het
Syt6	T	G	3: 103,532,972 (GRCm39)	M367R	probably damaging	Het
Tacc1	T	C	8: 25,672,581 (GRCm39)	T125A	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tcaf1	A	G	6: 42,663,809 (GRCm39)	S24P	probably benign	Het
Trim75	T	G	8: 65,435,199 (GRCm39)	Y417S	probably damaging	Het
Ttll12	T	C	15: 83,464,321 (GRCm39)	Y503C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Zfp593	T	C	4: 133,972,077 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	probably damaging	Het

Other mutations in Pkhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pkhd1	APN	1	20,637,098 (GRCm39)	critical splice acceptor site	probably null
IGL00687:Pkhd1	APN	1	20,594,294 (GRCm39)	missense	probably benign	0.19
IGL00824:Pkhd1	APN	1	20,151,408 (GRCm39)	critical splice donor site	probably null
IGL00870:Pkhd1	APN	1	20,641,614 (GRCm39)	missense	probably damaging	1.00
IGL00911:Pkhd1	APN	1	20,187,971 (GRCm39)	missense	probably benign	0.00
IGL01015:Pkhd1	APN	1	20,593,482 (GRCm39)	missense	possibly damaging	0.95
IGL01025:Pkhd1	APN	1	20,279,400 (GRCm39)	missense	probably benign	0.04
IGL01064:Pkhd1	APN	1	20,604,754 (GRCm39)	splice site	probably benign
IGL01313:Pkhd1	APN	1	20,271,248 (GRCm39)	missense	probably damaging	1.00
IGL01340:Pkhd1	APN	1	20,593,201 (GRCm39)	missense	probably benign	0.01
IGL01352:Pkhd1	APN	1	20,619,939 (GRCm39)	missense	probably benign	0.34
IGL01456:Pkhd1	APN	1	20,269,683 (GRCm39)	missense	probably damaging	1.00
IGL01530:Pkhd1	APN	1	20,629,643 (GRCm39)	critical splice donor site	probably null
IGL01557:Pkhd1	APN	1	20,187,203 (GRCm39)	missense	possibly damaging	0.59
IGL01655:Pkhd1	APN	1	20,604,857 (GRCm39)	nonsense	probably null
IGL01790:Pkhd1	APN	1	20,628,895 (GRCm39)	missense	probably damaging	0.96
IGL01862:Pkhd1	APN	1	20,429,134 (GRCm39)	missense	probably damaging	1.00
IGL01874:Pkhd1	APN	1	20,173,459 (GRCm39)	missense	probably benign	0.32
IGL01901:Pkhd1	APN	1	20,290,307 (GRCm39)	missense	probably benign	0.11
IGL01903:Pkhd1	APN	1	20,268,361 (GRCm39)	missense	probably damaging	1.00
IGL01981:Pkhd1	APN	1	20,593,791 (GRCm39)	missense	possibly damaging	0.64
IGL02068:Pkhd1	APN	1	20,592,971 (GRCm39)	missense	probably damaging	1.00
IGL02083:Pkhd1	APN	1	20,271,451 (GRCm39)	missense	probably damaging	1.00
IGL02084:Pkhd1	APN	1	20,447,623 (GRCm39)	missense	probably damaging	1.00
IGL02126:Pkhd1	APN	1	20,187,419 (GRCm39)	missense	probably damaging	1.00
IGL02136:Pkhd1	APN	1	20,345,839 (GRCm39)	missense	probably damaging	1.00
IGL02255:Pkhd1	APN	1	20,654,325 (GRCm39)	missense	probably damaging	1.00
IGL02272:Pkhd1	APN	1	20,279,484 (GRCm39)	missense	probably damaging	1.00
IGL02308:Pkhd1	APN	1	20,140,600 (GRCm39)	critical splice donor site	probably null
IGL02364:Pkhd1	APN	1	20,271,007 (GRCm39)	missense	probably benign
IGL02389:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02394:Pkhd1	APN	1	20,269,710 (GRCm39)	missense	possibly damaging	0.57
IGL02403:Pkhd1	APN	1	20,632,642 (GRCm39)	missense	probably benign	0.01
IGL02415:Pkhd1	APN	1	20,484,645 (GRCm39)	missense	probably damaging	1.00
IGL02415:Pkhd1	APN	1	20,592,983 (GRCm39)	missense	probably damaging	1.00
IGL02455:Pkhd1	APN	1	20,434,425 (GRCm39)	missense	probably damaging	1.00
IGL02502:Pkhd1	APN	1	20,462,389 (GRCm39)	missense	probably damaging	1.00
IGL02511:Pkhd1	APN	1	20,143,731 (GRCm39)	missense	possibly damaging	0.90
IGL02530:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02532:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02534:Pkhd1	APN	1	20,187,944 (GRCm39)	missense	probably damaging	0.99
IGL02556:Pkhd1	APN	1	20,380,934 (GRCm39)	missense	probably damaging	1.00
IGL02570:Pkhd1	APN	1	20,590,480 (GRCm39)	missense	probably damaging	0.99
IGL02605:Pkhd1	APN	1	20,621,126 (GRCm39)	missense	possibly damaging	0.66
IGL02641:Pkhd1	APN	1	20,628,976 (GRCm39)	missense	possibly damaging	0.61
IGL02741:Pkhd1	APN	1	20,290,253 (GRCm39)	splice site	probably benign
IGL02752:Pkhd1	APN	1	20,623,815 (GRCm39)	missense	possibly damaging	0.57
IGL02890:Pkhd1	APN	1	20,431,235 (GRCm39)	missense	probably damaging	1.00
IGL02959:Pkhd1	APN	1	20,678,640 (GRCm39)	nonsense	probably null
IGL02960:Pkhd1	APN	1	20,447,670 (GRCm39)	missense	possibly damaging	0.69
IGL02990:Pkhd1	APN	1	20,593,187 (GRCm39)	missense	possibly damaging	0.52
IGL03037:Pkhd1	APN	1	20,592,923 (GRCm39)	missense	probably benign	0.06
IGL03082:Pkhd1	APN	1	20,635,857 (GRCm39)	missense	probably damaging	1.00
IGL03114:Pkhd1	APN	1	20,268,395 (GRCm39)	missense	probably damaging	0.99
IGL03288:Pkhd1	APN	1	20,271,243 (GRCm39)	missense	probably benign	0.01
IGL03328:Pkhd1	APN	1	20,151,524 (GRCm39)	splice site	probably benign
IGL03375:Pkhd1	APN	1	20,187,247 (GRCm39)	missense	probably damaging	1.00
IGL03380:Pkhd1	APN	1	20,270,894 (GRCm39)	missense	probably damaging	1.00
0152:Pkhd1	UTSW	1	20,593,118 (GRCm39)	missense	possibly damaging	0.46
IGL03046:Pkhd1	UTSW	1	20,607,589 (GRCm39)	missense	possibly damaging	0.81
LCD18:Pkhd1	UTSW	1	20,681,638 (GRCm39)	intron	probably benign
P0035:Pkhd1	UTSW	1	20,187,571 (GRCm39)	missense	probably benign	0.00
PIT4260001:Pkhd1	UTSW	1	20,293,130 (GRCm39)	missense	possibly damaging	0.51
R0063:Pkhd1	UTSW	1	20,282,174 (GRCm39)	missense	probably benign	0.02
R0063:Pkhd1	UTSW	1	20,282,174 (GRCm39)	missense	probably benign	0.02
R0071:Pkhd1	UTSW	1	20,271,568 (GRCm39)	missense	probably benign	0.11
R0071:Pkhd1	UTSW	1	20,271,568 (GRCm39)	missense	probably benign	0.11
R0094:Pkhd1	UTSW	1	20,279,470 (GRCm39)	missense	probably damaging	1.00
R0094:Pkhd1	UTSW	1	20,279,470 (GRCm39)	missense	probably damaging	1.00
R0103:Pkhd1	UTSW	1	20,593,583 (GRCm39)	missense	probably benign	0.04
R0103:Pkhd1	UTSW	1	20,593,583 (GRCm39)	missense	probably benign	0.04
R0105:Pkhd1	UTSW	1	20,593,956 (GRCm39)	nonsense	probably null
R0105:Pkhd1	UTSW	1	20,593,956 (GRCm39)	nonsense	probably null
R0115:Pkhd1	UTSW	1	20,420,714 (GRCm39)	missense	probably damaging	1.00
R0193:Pkhd1	UTSW	1	20,429,141 (GRCm39)	missense	probably damaging	1.00
R0245:Pkhd1	UTSW	1	20,610,624 (GRCm39)	missense	probably benign	0.03
R0277:Pkhd1	UTSW	1	20,345,762 (GRCm39)	missense	probably benign	0.04
R0310:Pkhd1	UTSW	1	20,620,046 (GRCm39)	splice site	probably null
R0323:Pkhd1	UTSW	1	20,345,762 (GRCm39)	missense	probably benign	0.04
R0395:Pkhd1	UTSW	1	20,451,771 (GRCm39)	missense	probably benign	0.26
R0412:Pkhd1	UTSW	1	20,188,012 (GRCm39)	missense	probably damaging	1.00
R0506:Pkhd1	UTSW	1	20,629,693 (GRCm39)	missense	probably benign	0.00
R0512:Pkhd1	UTSW	1	20,380,738 (GRCm39)	splice site	probably benign
R0550:Pkhd1	UTSW	1	20,417,447 (GRCm39)	missense	probably null	1.00
R0584:Pkhd1	UTSW	1	20,309,660 (GRCm39)	nonsense	probably null
R0586:Pkhd1	UTSW	1	20,594,335 (GRCm39)	missense	probably benign	0.04
R0598:Pkhd1	UTSW	1	20,271,114 (GRCm39)	missense	probably damaging	1.00
R0603:Pkhd1	UTSW	1	20,187,397 (GRCm39)	missense	probably benign	0.05
R0634:Pkhd1	UTSW	1	20,187,698 (GRCm39)	missense	probably damaging	1.00
R0677:Pkhd1	UTSW	1	20,594,454 (GRCm39)	missense	probably benign	0.01
R0746:Pkhd1	UTSW	1	20,268,331 (GRCm39)	missense	probably damaging	1.00
R0781:Pkhd1	UTSW	1	20,187,708 (GRCm39)	missense	probably benign	0.01
R0840:Pkhd1	UTSW	1	20,420,745 (GRCm39)	missense	probably damaging	0.98
R0946:Pkhd1	UTSW	1	20,269,605 (GRCm39)	missense	probably benign	0.10
R1018:Pkhd1	UTSW	1	20,271,483 (GRCm39)	missense	possibly damaging	0.89
R1028:Pkhd1	UTSW	1	20,187,950 (GRCm39)	missense	probably damaging	1.00
R1136:Pkhd1	UTSW	1	20,593,053 (GRCm39)	missense	possibly damaging	0.68
R1178:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1180:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1222:Pkhd1	UTSW	1	20,637,680 (GRCm39)	missense	probably benign	0.07
R1334:Pkhd1	UTSW	1	20,604,129 (GRCm39)	missense	possibly damaging	0.81
R1335:Pkhd1	UTSW	1	20,641,629 (GRCm39)	missense	probably damaging	1.00
R1387:Pkhd1	UTSW	1	20,625,447 (GRCm39)	splice site	probably benign
R1411:Pkhd1	UTSW	1	20,444,120 (GRCm39)	missense	probably damaging	1.00
R1443:Pkhd1	UTSW	1	20,604,782 (GRCm39)	missense	probably damaging	1.00
R1448:Pkhd1	UTSW	1	20,655,381 (GRCm39)	critical splice donor site	probably null
R1468:Pkhd1	UTSW	1	20,593,565 (GRCm39)	missense	probably damaging	1.00
R1468:Pkhd1	UTSW	1	20,593,565 (GRCm39)	missense	probably damaging	1.00
R1473:Pkhd1	UTSW	1	20,593,207 (GRCm39)	missense	probably benign	0.00
R1524:Pkhd1	UTSW	1	20,188,004 (GRCm39)	missense	probably damaging	1.00
R1532:Pkhd1	UTSW	1	20,187,625 (GRCm39)	missense	probably benign	0.08
R1565:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1572:Pkhd1	UTSW	1	20,417,664 (GRCm39)	missense	probably benign	0.02
R1583:Pkhd1	UTSW	1	20,188,049 (GRCm39)	missense	probably benign
R1617:Pkhd1	UTSW	1	20,268,274 (GRCm39)	missense	possibly damaging	0.95
R1631:Pkhd1	UTSW	1	20,593,121 (GRCm39)	missense	probably benign	0.06
R1655:Pkhd1	UTSW	1	20,654,353 (GRCm39)	missense	probably damaging	1.00
R1707:Pkhd1	UTSW	1	20,621,064 (GRCm39)	splice site	probably benign
R1753:Pkhd1	UTSW	1	20,604,129 (GRCm39)	missense	possibly damaging	0.81
R1782:Pkhd1	UTSW	1	20,635,935 (GRCm39)	missense	probably damaging	0.98
R1791:Pkhd1	UTSW	1	20,655,376 (GRCm39)	splice site	probably benign
R1822:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1823:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1824:Pkhd1	UTSW	1	20,417,681 (GRCm39)	missense	probably damaging	1.00
R1836:Pkhd1	UTSW	1	20,187,293 (GRCm39)	missense	probably benign	0.01
R1862:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably benign	0.00
R1863:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably benign	0.00
R1869:Pkhd1	UTSW	1	20,685,491 (GRCm39)	critical splice donor site	probably null
R1913:Pkhd1	UTSW	1	20,636,980 (GRCm39)	critical splice donor site	probably null
R1928:Pkhd1	UTSW	1	20,151,524 (GRCm39)	splice site	probably benign
R1969:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R1970:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R1981:Pkhd1	UTSW	1	20,187,284 (GRCm39)	missense	probably benign	0.00
R2008:Pkhd1	UTSW	1	20,269,683 (GRCm39)	missense	probably damaging	0.99
R2034:Pkhd1	UTSW	1	20,270,893 (GRCm39)	missense	probably damaging	1.00
R2061:Pkhd1	UTSW	1	20,683,036 (GRCm39)	missense	possibly damaging	0.76
R2062:Pkhd1	UTSW	1	20,271,559 (GRCm39)	missense	probably damaging	0.97
R2108:Pkhd1	UTSW	1	20,623,798 (GRCm39)	nonsense	probably null
R2142:Pkhd1	UTSW	1	20,594,119 (GRCm39)	missense	probably benign	0.00
R2148:Pkhd1	UTSW	1	20,484,444 (GRCm39)	critical splice donor site	probably null
R2176:Pkhd1	UTSW	1	20,623,741 (GRCm39)	missense	probably damaging	1.00
R2202:Pkhd1	UTSW	1	20,607,584 (GRCm39)	missense	probably benign	0.06
R2255:Pkhd1	UTSW	1	20,635,863 (GRCm39)	missense	probably benign	0.23
R2269:Pkhd1	UTSW	1	20,604,759 (GRCm39)	critical splice donor site	probably null
R2275:Pkhd1	UTSW	1	20,271,073 (GRCm39)	missense	possibly damaging	0.95
R2340:Pkhd1	UTSW	1	20,271,079 (GRCm39)	missense	probably damaging	1.00
R2431:Pkhd1	UTSW	1	20,271,389 (GRCm39)	missense	possibly damaging	0.63
R2679:Pkhd1	UTSW	1	20,279,406 (GRCm39)	missense	probably benign	0.03
R2850:Pkhd1	UTSW	1	20,579,300 (GRCm39)	missense	possibly damaging	0.89
R2851:Pkhd1	UTSW	1	20,128,526 (GRCm39)	missense	probably benign	0.16
R2853:Pkhd1	UTSW	1	20,128,526 (GRCm39)	missense	probably benign	0.16
R2984:Pkhd1	UTSW	1	20,293,185 (GRCm39)	missense	possibly damaging	0.84
R2987:Pkhd1	UTSW	1	20,174,823 (GRCm39)	missense	possibly damaging	0.87
R3692:Pkhd1	UTSW	1	20,625,353 (GRCm39)	missense	possibly damaging	0.87
R3721:Pkhd1	UTSW	1	20,655,879 (GRCm39)	missense	probably benign	0.08
R3746:Pkhd1	UTSW	1	20,128,524 (GRCm39)	makesense	probably null
R3838:Pkhd1	UTSW	1	20,604,853 (GRCm39)	missense	possibly damaging	0.66
R3843:Pkhd1	UTSW	1	20,628,947 (GRCm39)	missense	probably benign	0.00
R3861:Pkhd1	UTSW	1	20,271,151 (GRCm39)	missense	probably damaging	1.00
R3893:Pkhd1	UTSW	1	20,382,362 (GRCm39)	nonsense	probably null
R3926:Pkhd1	UTSW	1	20,621,097 (GRCm39)	missense	probably benign	0.00
R4183:Pkhd1	UTSW	1	20,188,031 (GRCm39)	missense	probably benign	0.03
R4184:Pkhd1	UTSW	1	20,633,910 (GRCm39)	missense	probably benign	0.06
R4184:Pkhd1	UTSW	1	20,279,501 (GRCm39)	missense	probably benign	0.03
R4255:Pkhd1	UTSW	1	20,664,158 (GRCm39)	missense	probably damaging	0.99
R4275:Pkhd1	UTSW	1	20,128,608 (GRCm39)	missense	probably benign	0.00
R4342:Pkhd1	UTSW	1	20,128,841 (GRCm39)	missense	probably benign	0.00
R4386:Pkhd1	UTSW	1	20,484,516 (GRCm39)	missense	probably benign	0.00
R4402:Pkhd1	UTSW	1	20,309,635 (GRCm39)	missense	probably damaging	1.00
R4431:Pkhd1	UTSW	1	20,593,538 (GRCm39)	missense	probably damaging	0.99
R4560:Pkhd1	UTSW	1	20,282,082 (GRCm39)	missense	probably damaging	1.00
R4561:Pkhd1	UTSW	1	20,604,943 (GRCm39)	missense	possibly damaging	0.89
R4570:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R4571:Pkhd1	UTSW	1	20,683,633 (GRCm39)	missense	probably damaging	1.00
R4588:Pkhd1	UTSW	1	20,271,092 (GRCm39)	missense	probably benign	0.00
R4598:Pkhd1	UTSW	1	20,573,280 (GRCm39)	missense	probably damaging	1.00
R4651:Pkhd1	UTSW	1	20,451,747 (GRCm39)	missense	probably damaging	1.00
R4657:Pkhd1	UTSW	1	20,434,391 (GRCm39)	missense	possibly damaging	0.89
R4718:Pkhd1	UTSW	1	20,151,452 (GRCm39)	missense	probably damaging	1.00
R4750:Pkhd1	UTSW	1	20,594,336 (GRCm39)	missense	possibly damaging	0.57
R4816:Pkhd1	UTSW	1	20,269,639 (GRCm39)	missense	probably damaging	0.99
R4825:Pkhd1	UTSW	1	20,607,625 (GRCm39)	missense	probably damaging	0.96
R4885:Pkhd1	UTSW	1	20,140,712 (GRCm39)	missense	possibly damaging	0.55
R4907:Pkhd1	UTSW	1	20,279,450 (GRCm39)	missense	probably damaging	1.00
R4944:Pkhd1	UTSW	1	20,358,429 (GRCm39)	missense	probably null	0.01
R5062:Pkhd1	UTSW	1	20,655,935 (GRCm39)	missense	probably benign	0.00
R5090:Pkhd1	UTSW	1	20,270,981 (GRCm39)	missense	probably damaging	1.00
R5104:Pkhd1	UTSW	1	20,655,415 (GRCm39)	missense	probably damaging	1.00
R5187:Pkhd1	UTSW	1	20,279,448 (GRCm39)	missense	possibly damaging	0.67
R5202:Pkhd1	UTSW	1	20,617,565 (GRCm39)	missense	probably benign	0.01
R5240:Pkhd1	UTSW	1	20,345,865 (GRCm39)	missense	probably benign	0.04
R5248:Pkhd1	UTSW	1	20,604,769 (GRCm39)	missense	probably benign	0.00
R5252:Pkhd1	UTSW	1	20,420,635 (GRCm39)	critical splice donor site	probably null
R5293:Pkhd1	UTSW	1	20,579,300 (GRCm39)	missense	possibly damaging	0.89
R5311:Pkhd1	UTSW	1	20,636,094 (GRCm39)	missense	possibly damaging	0.94
R5317:Pkhd1	UTSW	1	20,520,528 (GRCm39)	missense	probably damaging	1.00
R5346:Pkhd1	UTSW	1	20,593,658 (GRCm39)	missense	probably damaging	0.96
R5346:Pkhd1	UTSW	1	20,462,321 (GRCm39)	missense	probably benign
R5431:Pkhd1	UTSW	1	20,188,060 (GRCm39)	missense	probably benign	0.25
R5447:Pkhd1	UTSW	1	20,309,609 (GRCm39)	missense	probably benign	0.00
R5478:Pkhd1	UTSW	1	20,271,380 (GRCm39)	missense	probably damaging	1.00
R5497:Pkhd1	UTSW	1	20,447,628 (GRCm39)	missense	possibly damaging	0.94
R5554:Pkhd1	UTSW	1	20,151,476 (GRCm39)	missense	probably damaging	0.99
R5579:Pkhd1	UTSW	1	20,593,366 (GRCm39)	missense	probably damaging	0.96
R5614:Pkhd1	UTSW	1	20,143,750 (GRCm39)	missense	possibly damaging	0.83
R5648:Pkhd1	UTSW	1	20,628,850 (GRCm39)	missense	probably benign	0.04
R5651:Pkhd1	UTSW	1	20,188,031 (GRCm39)	missense	probably benign	0.03
R5665:Pkhd1	UTSW	1	20,658,755 (GRCm39)	missense	probably damaging	1.00
R5681:Pkhd1	UTSW	1	20,617,685 (GRCm39)	missense	possibly damaging	0.61
R5754:Pkhd1	UTSW	1	20,593,875 (GRCm39)	nonsense	probably null
R5760:Pkhd1	UTSW	1	20,143,778 (GRCm39)	missense	probably benign	0.02
R5776:Pkhd1	UTSW	1	20,279,409 (GRCm39)	missense	possibly damaging	0.62
R5782:Pkhd1	UTSW	1	20,128,824 (GRCm39)	missense	probably benign
R5810:Pkhd1	UTSW	1	20,270,897 (GRCm39)	missense	probably benign	0.26
R5814:Pkhd1	UTSW	1	20,269,629 (GRCm39)	missense	probably damaging	1.00
R5816:Pkhd1	UTSW	1	20,128,902 (GRCm39)	missense	probably benign	0.03
R5835:Pkhd1	UTSW	1	20,271,307 (GRCm39)	missense	probably benign	0.01
R5844:Pkhd1	UTSW	1	20,451,685 (GRCm39)	missense	probably benign	0.00
R5847:Pkhd1	UTSW	1	20,444,960 (GRCm39)	nonsense	probably null
R5852:Pkhd1	UTSW	1	20,447,632 (GRCm39)	missense	probably benign	0.22
R5863:Pkhd1	UTSW	1	20,590,434 (GRCm39)	missense	possibly damaging	0.63
R6213:Pkhd1	UTSW	1	20,593,994 (GRCm39)	missense	possibly damaging	0.80
R6351:Pkhd1	UTSW	1	20,282,175 (GRCm39)	missense	probably benign	0.00
R6386:Pkhd1	UTSW	1	20,621,244 (GRCm39)	missense	probably damaging	0.96
R6542:Pkhd1	UTSW	1	20,655,927 (GRCm39)	missense	probably benign	0.02
R6579:Pkhd1	UTSW	1	20,271,047 (GRCm39)	missense	probably benign	0.01
R6658:Pkhd1	UTSW	1	20,682,929 (GRCm39)	missense	probably damaging	1.00
R6765:Pkhd1	UTSW	1	20,128,563 (GRCm39)	missense	probably benign
R6886:Pkhd1	UTSW	1	20,417,504 (GRCm39)	missense	probably benign	0.01
R6892:Pkhd1	UTSW	1	20,593,739 (GRCm39)	missense	probably damaging	1.00
R6900:Pkhd1	UTSW	1	20,604,925 (GRCm39)	missense	probably benign	0.06
R6932:Pkhd1	UTSW	1	20,632,675 (GRCm39)	missense	probably benign	0.19
R7191:Pkhd1	UTSW	1	20,628,943 (GRCm39)	missense	probably benign	0.00
R7220:Pkhd1	UTSW	1	20,593,350 (GRCm39)	missense	possibly damaging	0.89
R7329:Pkhd1	UTSW	1	20,617,743 (GRCm39)	missense	probably damaging	0.96
R7361:Pkhd1	UTSW	1	20,664,177 (GRCm39)	missense	probably damaging	1.00
R7381:Pkhd1	UTSW	1	20,271,197 (GRCm39)	missense	probably damaging	1.00
R7388:Pkhd1	UTSW	1	20,309,528 (GRCm39)	missense	not run
R7436:Pkhd1	UTSW	1	20,270,925 (GRCm39)	missense	probably benign
R7473:Pkhd1	UTSW	1	20,619,980 (GRCm39)	missense	probably damaging	0.99
R7578:Pkhd1	UTSW	1	20,417,585 (GRCm39)	missense	probably damaging	1.00
R7751:Pkhd1	UTSW	1	20,271,149 (GRCm39)	missense	probably damaging	1.00
R7755:Pkhd1	UTSW	1	20,617,717 (GRCm39)	missense	probably damaging	0.98
R7757:Pkhd1	UTSW	1	20,632,639 (GRCm39)	missense	probably damaging	1.00
R7832:Pkhd1	UTSW	1	20,573,223 (GRCm39)	missense	probably damaging	1.00
R7834:Pkhd1	UTSW	1	20,382,273 (GRCm39)	missense	probably benign
R7920:Pkhd1	UTSW	1	20,345,759 (GRCm39)	missense	probably damaging	1.00
R8014:Pkhd1	UTSW	1	20,579,115 (GRCm39)	critical splice donor site	probably null
R8034:Pkhd1	UTSW	1	20,451,662 (GRCm39)	missense	possibly damaging	0.94
R8085:Pkhd1	UTSW	1	20,683,639 (GRCm39)	missense	probably damaging	1.00
R8087:Pkhd1	UTSW	1	20,593,313 (GRCm39)	missense	probably damaging	1.00
R8103:Pkhd1	UTSW	1	20,270,981 (GRCm39)	missense	probably damaging	1.00
R8122:Pkhd1	UTSW	1	20,632,682 (GRCm39)	missense	probably damaging	1.00
R8273:Pkhd1	UTSW	1	20,607,644 (GRCm39)	splice site	probably benign
R8485:Pkhd1	UTSW	1	20,593,257 (GRCm39)	missense	probably damaging	1.00
R8504:Pkhd1	UTSW	1	20,590,432 (GRCm39)	missense	probably benign	0.10
R8544:Pkhd1	UTSW	1	20,593,199 (GRCm39)	missense	probably damaging	1.00
R8692:Pkhd1	UTSW	1	20,462,374 (GRCm39)	missense	probably damaging	1.00
R8787:Pkhd1	UTSW	1	20,358,461 (GRCm39)	missense	probably damaging	0.99
R8853:Pkhd1	UTSW	1	20,143,679 (GRCm39)	critical splice donor site	probably null
R8907:Pkhd1	UTSW	1	20,187,785 (GRCm39)	missense	possibly damaging	0.88
R8934:Pkhd1	UTSW	1	20,462,234 (GRCm39)	critical splice donor site	probably null
R8990:Pkhd1	UTSW	1	20,417,529 (GRCm39)	missense	probably benign	0.00
R8998:Pkhd1	UTSW	1	20,434,425 (GRCm39)	missense	probably damaging	1.00
R9024:Pkhd1	UTSW	1	20,592,975 (GRCm39)	missense	probably benign	0.24
R9035:Pkhd1	UTSW	1	20,573,176 (GRCm39)	missense	probably damaging	1.00
R9092:Pkhd1	UTSW	1	20,632,586 (GRCm39)	missense	probably benign	0.00
R9238:Pkhd1	UTSW	1	20,604,799 (GRCm39)	missense	possibly damaging	0.89
R9258:Pkhd1	UTSW	1	20,444,174 (GRCm39)	missense	probably damaging	0.99
R9262:Pkhd1	UTSW	1	20,618,351 (GRCm39)	missense	probably benign	0.01
R9297:Pkhd1	UTSW	1	20,293,118 (GRCm39)	missense	probably benign	0.06
R9452:Pkhd1	UTSW	1	20,682,953 (GRCm39)	missense	possibly damaging	0.77
R9515:Pkhd1	UTSW	1	20,637,741 (GRCm39)	missense	probably damaging	1.00
R9540:Pkhd1	UTSW	1	20,269,570 (GRCm39)	missense	probably benign	0.00
R9542:Pkhd1	UTSW	1	20,188,004 (GRCm39)	missense	probably damaging	1.00
R9629:Pkhd1	UTSW	1	20,462,437 (GRCm39)	missense	possibly damaging	0.63
R9644:Pkhd1	UTSW	1	20,617,690 (GRCm39)	missense	probably benign	0.04
R9739:Pkhd1	UTSW	1	20,420,708 (GRCm39)	missense	probably damaging	1.00
R9767:Pkhd1	UTSW	1	20,484,636 (GRCm39)	missense	probably benign
R9781:Pkhd1	UTSW	1	20,187,665 (GRCm39)	missense	possibly damaging	0.95
R9803:Pkhd1	UTSW	1	20,637,073 (GRCm39)	missense	probably damaging	1.00
X0012:Pkhd1	UTSW	1	20,444,150 (GRCm39)	missense	probably damaging	1.00
X0067:Pkhd1	UTSW	1	20,590,450 (GRCm39)	missense	probably damaging	1.00
Z1176:Pkhd1	UTSW	1	20,593,971 (GRCm39)	missense	possibly damaging	0.81
Z1177:Pkhd1	UTSW	1	20,593,845 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,380,818 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,188,107 (GRCm39)	missense	probably damaging	1.00
Z1177:Pkhd1	UTSW	1	20,621,243 (GRCm39)	missense	probably benign
Z1177:Pkhd1	UTSW	1	20,594,162 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATAAAACCTCACACTGTTGTTCC -3'
(R):5'- AAAAGGCCTTTGCTGTTGAGG -3'

Sequencing Primer
(F):5'- CTGAATTCTCCCCACATAGCAGTG -3'
(R):5'- GGCTTTCAGCTGACAGGAATATTACC -3'

Posted On

2015-11-11