Mutagenetix > Incidental Mutation

Incidental Mutation 'R7744:Cfap57'

596727

Institutional Source

Beutler Lab

Gene Symbol

Cfap57

Ensembl Gene

ENSMUSG00000028730

Gene Name

cilia and flagella associated protein 57

Synonyms

Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050

MMRRC Submission

045800-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7744 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118554551-118620777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118614931 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 84 (V84I)

Ref Sequence

ENSEMBL: ENSMUSP00000071863 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071972] [ENSMUST00000081921]

AlphaFold

Q9D180

Predicted Effect

probably benign
Transcript: ENSMUST00000071972
AA Change: V84I

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

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: V84I

Domain	Start	End	E-Value	Type
Blast:WD40	44	88	3e-12	BLAST
Blast:WD40	95	137	1e-9	BLAST
WD40	140	181	1.77e2	SMART
internal_repeat_1	182	237	7.23e-5	PROSPERO
WD40	329	365	1.27e2	SMART
WD40	376	416	3.4e-2	SMART
WD40	418	456	1.59e1	SMART
Blast:WD40	461	497	4e-18	BLAST
WD40	500	539	9.67e-7	SMART
WD40	544	581	3.96e1	SMART
Blast:WD40	582	621	8e-16	BLAST
WD40	626	665	3.21e-1	SMART
coiled coil region	690	1056	N/A	INTRINSIC
coiled coil region	1094	1166	N/A	INTRINSIC
coiled coil region	1197	1222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081921
AA Change: V84I

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

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: V84I

Domain	Start	End	E-Value	Type
Blast:WD40	44	88	3e-12	BLAST
Blast:WD40	95	137	1e-9	BLAST
WD40	140	181	1.77e2	SMART
internal_repeat_1	182	237	7.23e-5	PROSPERO
WD40	329	365	1.27e2	SMART
WD40	376	416	3.4e-2	SMART
WD40	418	456	1.59e1	SMART
Blast:WD40	461	497	4e-18	BLAST
WD40	500	539	9.67e-7	SMART
WD40	544	581	3.96e1	SMART
Blast:WD40	582	621	8e-16	BLAST
WD40	626	665	3.21e-1	SMART
coiled coil region	690	1056	N/A	INTRINSIC
coiled coil region	1094	1166	N/A	INTRINSIC
coiled coil region	1197	1222	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421 (GRCm38)	N761K	possibly damaging	Het
Abi2	A	G	1: 60,437,203 (GRCm38)	I145V	probably benign	Het
Ampd2	C	A	3: 108,080,116 (GRCm38)	V134L	probably benign	Het
Atf7ip2	T	A	16: 10,241,658 (GRCm38)	V354E	possibly damaging	Het
Bglap	T	C	3: 88,383,651 (GRCm38)	Y91C	probably damaging	Het
Cacna1e	A	T	1: 154,465,792 (GRCm38)	S1219T	probably damaging	Het
Ccng2	C	G	5: 93,273,343 (GRCm38)	S237R	probably benign	Het
Cd177	A	G	7: 24,750,375 (GRCm38)	C562R	probably damaging	Het
Chd7	T	A	4: 8,862,485 (GRCm38)		probably null	Het
Dyrk3	A	G	1: 131,129,806 (GRCm38)	V210A	probably damaging	Het
Eif3c	C	A	7: 126,558,894 (GRCm38)	G297W	probably damaging	Het
Eml1	A	G	12: 108,516,604 (GRCm38)	H494R	probably benign	Het
Enpp2	A	T	15: 54,901,233 (GRCm38)		probably null	Het
Fbxw21	C	A	9: 109,157,652 (GRCm38)	C53F	possibly damaging	Het
Fndc3a	C	A	14: 72,561,716 (GRCm38)	G609V	possibly damaging	Het
Grid1	A	G	14: 35,450,079 (GRCm38)	D514G	probably damaging	Het
Gxylt2	T	C	6: 100,783,317 (GRCm38)	V271A	probably damaging	Het
Hes1	A	G	16: 30,066,179 (GRCm38)	K74R	probably damaging	Het
Igsf9	A	G	1: 172,492,185 (GRCm38)	N349S	probably benign	Het
Isx	T	A	8: 74,873,657 (GRCm38)	I6N	possibly damaging	Het
Kcnb1	A	T	2: 167,188,331 (GRCm38)	F98Y	probably damaging	Het
Kif1b	G	C	4: 149,237,075 (GRCm38)	T1129R	possibly damaging	Het
Klra10	T	A	6: 130,272,761 (GRCm38)		probably null	Het
Mcm10	A	T	2: 4,991,442 (GRCm38)	L870Q	probably damaging	Het
Mettl16	T	A	11: 74,803,003 (GRCm38)	I280K	probably benign	Het
Mre11a	G	A	9: 14,809,832 (GRCm38)	R349Q	possibly damaging	Het
Mrpl10	C	T	11: 97,044,576 (GRCm38)	T34I	probably damaging	Het
Muc16	T	A	9: 18,585,096 (GRCm38)		probably null	Het
Myt1l	T	C	12: 29,827,549 (GRCm38)	C400R	unknown	Het
Nbr1	C	T	11: 101,569,384 (GRCm38)	T402M	probably damaging	Het
Ndufs1	A	G	1: 63,160,940 (GRCm38)	M271T	possibly damaging	Het
Or10q1	A	G	19: 13,750,055 (GRCm38)	*316W	probably null	Het
Or4c29	C	T	2: 88,909,659 (GRCm38)	V245I	possibly damaging	Het
Or51f23c-ps1	G	T	7: 102,782,390 (GRCm38)	V305L	probably benign	Het
Palm2	T	C	4: 57,709,519 (GRCm38)	S155P	probably damaging	Het
Pced1a	C	T	2: 130,422,052 (GRCm38)	D227N	probably damaging	Het
Phf21b	A	G	15: 84,804,869 (GRCm38)	I152T	probably damaging	Het
Pla2g4a	A	G	1: 149,861,102 (GRCm38)	V430A	probably benign	Het
Plbd1	T	C	6: 136,617,246 (GRCm38)	E335G	probably benign	Het
Plce1	G	A	19: 38,620,455 (GRCm38)	V403M	possibly damaging	Het
Pnpla6	T	A	8: 3,531,677 (GRCm38)	N642K	probably benign	Het
Ptprb	T	C	10: 116,277,484 (GRCm38)	I123T	probably benign	Het
Rab3il1	T	A	19: 10,028,277 (GRCm38)		probably null	Het
Ranbp3	C	T	17: 56,708,219 (GRCm38)	T307M	possibly damaging	Het
Rasgrp2	T	C	19: 6,405,001 (GRCm38)	S254P	probably damaging	Het
Rgl3	T	C	9: 21,987,570 (GRCm38)	K191R	probably benign	Het
Rnf223	G	A	4: 156,132,525 (GRCm38)	R119H	probably benign	Het
Sapcd2	C	T	2: 25,373,496 (GRCm38)	P217S	unknown	Het
Setd7	C	T	3: 51,526,840 (GRCm38)		probably null	Het
Sh3bp1	A	C	15: 78,910,009 (GRCm38)	T526P	possibly damaging	Het
Slc17a4	C	A	13: 23,901,784 (GRCm38)	W382L	probably benign	Het
Slc26a3	A	T	12: 31,463,465 (GRCm38)		probably null	Het
Tmem129	A	G	5: 33,654,388 (GRCm38)	L356P	probably damaging	Het
Trib1	T	A	15: 59,654,663 (GRCm38)	Y361N	probably benign	Het
Xirp1	T	A	9: 120,016,846 (GRCm38)	R990S	possibly damaging	Het
Zfp950	A	C	19: 61,127,572 (GRCm38)		probably null	Het

Other mutations in Cfap57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Cfap57	APN	4	118,581,001 (GRCm38)	missense	probably benign	0.01
IGL00508:Cfap57	APN	4	118,581,170 (GRCm38)	splice site	probably null
IGL00857:Cfap57	APN	4	118,612,923 (GRCm38)	critical splice donor site	probably null
IGL01147:Cfap57	APN	4	118,589,001 (GRCm38)	missense	probably damaging	0.97
IGL01396:Cfap57	APN	4	118,610,595 (GRCm38)	missense	probably damaging	1.00
IGL01420:Cfap57	APN	4	118,612,940 (GRCm38)	missense	probably benign	0.21
IGL01615:Cfap57	APN	4	118,600,796 (GRCm38)	missense	probably damaging	1.00
IGL02154:Cfap57	APN	4	118,613,017 (GRCm38)	missense	probably damaging	1.00
IGL02161:Cfap57	APN	4	118,579,372 (GRCm38)	missense	possibly damaging	0.75
IGL02481:Cfap57	APN	4	118,581,105 (GRCm38)	missense	probably damaging	1.00
IGL02483:Cfap57	APN	4	118,581,105 (GRCm38)	missense	probably damaging	1.00
IGL02503:Cfap57	APN	4	118,569,348 (GRCm38)	critical splice donor site	probably null
IGL02800:Cfap57	APN	4	118,614,750 (GRCm38)	missense	probably damaging	1.00
IGL03083:Cfap57	APN	4	118,584,739 (GRCm38)	missense	probably damaging	0.96
IGL03146:Cfap57	APN	4	118,599,019 (GRCm38)	missense	probably damaging	1.00
IGL03246:Cfap57	APN	4	118,576,645 (GRCm38)	missense	probably benign	0.29
IGL03376:Cfap57	APN	4	118,584,720 (GRCm38)	missense	probably damaging	0.96
G1Funyon:Cfap57	UTSW	4	118,593,074 (GRCm38)	missense	possibly damaging	0.94
R0144:Cfap57	UTSW	4	118,584,705 (GRCm38)	missense	probably damaging	1.00
R0184:Cfap57	UTSW	4	118,599,012 (GRCm38)	missense	probably damaging	1.00
R0415:Cfap57	UTSW	4	118,569,431 (GRCm38)	missense	possibly damaging	0.89
R0515:Cfap57	UTSW	4	118,620,402 (GRCm38)	missense	probably damaging	1.00
R0690:Cfap57	UTSW	4	118,569,727 (GRCm38)	splice site	probably benign
R0730:Cfap57	UTSW	4	118,612,920 (GRCm38)	splice site	probably null
R0737:Cfap57	UTSW	4	118,581,102 (GRCm38)	missense	possibly damaging	0.81
R0854:Cfap57	UTSW	4	118,561,872 (GRCm38)	missense	probably benign	0.04
R0880:Cfap57	UTSW	4	118,581,838 (GRCm38)	nonsense	probably null
R1085:Cfap57	UTSW	4	118,595,779 (GRCm38)	missense	probably benign	0.20
R1119:Cfap57	UTSW	4	118,606,676 (GRCm38)	nonsense	probably null
R1217:Cfap57	UTSW	4	118,606,652 (GRCm38)	missense	possibly damaging	0.67
R1294:Cfap57	UTSW	4	118,606,534 (GRCm38)	critical splice donor site	probably null
R1487:Cfap57	UTSW	4	118,614,781 (GRCm38)	missense	probably benign	0.01
R1676:Cfap57	UTSW	4	118,595,940 (GRCm38)	missense	probably damaging	1.00
R1688:Cfap57	UTSW	4	118,569,646 (GRCm38)	missense	probably null	0.20
R1709:Cfap57	UTSW	4	118,571,704 (GRCm38)	missense	probably benign	0.00
R1719:Cfap57	UTSW	4	118,606,631 (GRCm38)	missense	probably benign	0.04
R1782:Cfap57	UTSW	4	118,614,975 (GRCm38)	missense	probably damaging	0.98
R1791:Cfap57	UTSW	4	118,571,724 (GRCm38)	missense	possibly damaging	0.66
R1850:Cfap57	UTSW	4	118,599,894 (GRCm38)	missense	probably damaging	1.00
R1866:Cfap57	UTSW	4	118,599,927 (GRCm38)	missense	possibly damaging	0.49
R1912:Cfap57	UTSW	4	118,615,010 (GRCm38)	missense	probably damaging	0.96
R1978:Cfap57	UTSW	4	118,593,132 (GRCm38)	missense	probably benign	0.03
R2177:Cfap57	UTSW	4	118,606,688 (GRCm38)	missense	probably benign	0.00
R2322:Cfap57	UTSW	4	118,610,725 (GRCm38)	missense	probably benign
R3905:Cfap57	UTSW	4	118,595,839 (GRCm38)	missense	probably damaging	1.00
R4013:Cfap57	UTSW	4	118,593,143 (GRCm38)	missense	probably benign	0.01
R4079:Cfap57	UTSW	4	118,598,997 (GRCm38)	missense	probably benign	0.34
R4962:Cfap57	UTSW	4	118,613,065 (GRCm38)	missense	probably benign	0.21
R4970:Cfap57	UTSW	4	118,620,371 (GRCm38)	missense	probably damaging	0.99
R4974:Cfap57	UTSW	4	118,593,054 (GRCm38)	missense	probably damaging	1.00
R4999:Cfap57	UTSW	4	118,595,848 (GRCm38)	missense	probably benign	0.01
R5482:Cfap57	UTSW	4	118,569,641 (GRCm38)	missense	probably benign
R5522:Cfap57	UTSW	4	118,595,888 (GRCm38)	missense	probably benign	0.41
R5626:Cfap57	UTSW	4	118,614,783 (GRCm38)	missense	probably damaging	1.00
R5685:Cfap57	UTSW	4	118,569,459 (GRCm38)	missense	probably benign
R5712:Cfap57	UTSW	4	118,614,795 (GRCm38)	missense	probably damaging	1.00
R5961:Cfap57	UTSW	4	118,571,745 (GRCm38)	missense	probably benign	0.00
R6244:Cfap57	UTSW	4	118,579,410 (GRCm38)	missense	probably damaging	0.99
R6268:Cfap57	UTSW	4	118,569,451 (GRCm38)	nonsense	probably null
R6271:Cfap57	UTSW	4	118,595,759 (GRCm38)	missense	probably benign	0.13
R6330:Cfap57	UTSW	4	118,569,396 (GRCm38)	missense	probably benign
R6439:Cfap57	UTSW	4	118,588,975 (GRCm38)	critical splice donor site	probably null
R6639:Cfap57	UTSW	4	118,554,712 (GRCm38)	missense	probably benign	0.13
R6722:Cfap57	UTSW	4	118,584,717 (GRCm38)	missense	probably damaging	1.00
R7033:Cfap57	UTSW	4	118,613,126 (GRCm38)	missense	possibly damaging	0.67
R7143:Cfap57	UTSW	4	118,620,709 (GRCm38)	unclassified	probably benign
R7162:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7174:Cfap57	UTSW	4	118,589,067 (GRCm38)	missense	probably benign	0.35
R7210:Cfap57	UTSW	4	118,576,703 (GRCm38)	nonsense	probably null
R7242:Cfap57	UTSW	4	118,593,096 (GRCm38)	missense	possibly damaging	0.50
R7244:Cfap57	UTSW	4	118,554,800 (GRCm38)	nonsense	probably null
R7359:Cfap57	UTSW	4	118,598,965 (GRCm38)	missense	probably benign	0.01
R7373:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7394:Cfap57	UTSW	4	118,593,137 (GRCm38)	missense	probably benign	0.00
R7401:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7412:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7414:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7452:Cfap57	UTSW	4	118,595,784 (GRCm38)	missense	probably damaging	1.00
R7457:Cfap57	UTSW	4	118,589,001 (GRCm38)	missense	probably damaging	0.97
R7559:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7642:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7741:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7745:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7842:Cfap57	UTSW	4	118,554,755 (GRCm38)	nonsense	probably null
R7936:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7940:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R7942:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R8074:Cfap57	UTSW	4	118,569,625 (GRCm38)	missense	possibly damaging	0.66
R8301:Cfap57	UTSW	4	118,593,074 (GRCm38)	missense	possibly damaging	0.94
R8411:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R8447:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R8491:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R8524:Cfap57	UTSW	4	118,614,931 (GRCm38)	missense	probably benign
R8670:Cfap57	UTSW	4	118,614,925 (GRCm38)	missense	possibly damaging	0.91
R8707:Cfap57	UTSW	4	118,593,006 (GRCm38)	missense	probably benign	0.04
R8790:Cfap57	UTSW	4	118,581,914 (GRCm38)	missense	possibly damaging	0.59
R8941:Cfap57	UTSW	4	118,569,602 (GRCm38)	missense	probably damaging	0.99
R9139:Cfap57	UTSW	4	118,554,851 (GRCm38)	missense	probably benign	0.02
R9212:Cfap57	UTSW	4	118,579,452 (GRCm38)	missense	possibly damaging	0.95
R9442:Cfap57	UTSW	4	118,606,534 (GRCm38)	critical splice donor site	probably null
R9525:Cfap57	UTSW	4	118,576,581 (GRCm38)	missense	probably damaging	1.00
X0022:Cfap57	UTSW	4	118,614,745 (GRCm38)	missense	probably benign
Z1088:Cfap57	UTSW	4	118,581,882 (GRCm38)	missense	probably benign	0.22
Z1177:Cfap57	UTSW	4	118,598,956 (GRCm38)	critical splice donor site	probably null

Predicted Primers

Posted On

2019-11-26