Mutagenetix > Incidental Mutation

Incidental Mutation 'R4079:Cfap57'

316739

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

040976-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118554551-118620777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118598997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 500 (S500I)

Ref Sequence

ENSEMBL: ENSMUSP00000080592 (fasta)

Gene Model

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

AlphaFold

Q9D180

Predicted Effect

probably benign
Transcript: ENSMUST00000071972
AA Change: S500I

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: S500I

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: S500I

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: S500I

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

Meta Mutation Damage Score

0.0985

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	C	G	4: 126,353,680 (GRCm38)		probably null	Het
Ankfy1	C	A	11: 72,690,009 (GRCm38)		probably benign	Het
Ap4b1	T	A	3: 103,813,378 (GRCm38)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,975,292 (GRCm38)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,993,501 (GRCm38)	I88N	probably damaging	Het
Armc9	A	T	1: 86,213,129 (GRCm38)		probably benign	Het
Bnc1	T	C	7: 81,973,760 (GRCm38)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,986,479 (GRCm38)	T817A	probably benign	Het
C3	C	T	17: 57,205,303 (GRCm38)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,341,669 (GRCm38)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 122,647,695 (GRCm38)		probably null	Het
Ccdc18	C	T	5: 108,158,528 (GRCm38)	Q270*	probably null	Het
Cdc45	A	T	16: 18,811,360 (GRCm38)	V19D	probably damaging	Het
Cnga3	A	T	1: 37,241,865 (GRCm38)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,503,883 (GRCm38)	D89G	probably benign	Het
Cox16	A	T	12: 81,474,335 (GRCm38)		probably benign	Het
Cyp2a4	A	G	7: 26,307,366 (GRCm38)	N50S	probably benign	Het
Diaph1	T	A	18: 37,853,583 (GRCm38)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,148,260 (GRCm38)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,669,007 (GRCm38)		probably null	Het
F13b	T	A	1: 139,501,770 (GRCm38)	F9I	unknown	Het
Fcer1a	C	T	1: 173,225,353 (GRCm38)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,755,612 (GRCm38)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,249,636 (GRCm38)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,352,602 (GRCm38)	V493A	probably damaging	Het
Hgs	T	A	11: 120,483,048 (GRCm38)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875 (GRCm38)	R517Q	probably damaging	Het
Kpna7	A	G	5: 145,005,927 (GRCm38)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,710,284 (GRCm38)		probably null	Het
Lrig3	A	C	10: 126,009,787 (GRCm38)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,096,037 (GRCm38)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,542,849 (GRCm38)	L152W	probably damaging	Het
Mog	A	G	17: 37,012,410 (GRCm38)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,462,270 (GRCm38)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,491,057 (GRCm38)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,556,036 (GRCm38)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,079,491 (GRCm38)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,309,878 (GRCm38)	D305N	probably damaging	Het
Obscn	A	G	11: 59,038,363 (GRCm38)	V6145A	probably benign	Het
Or52x1	A	T	7: 105,204,021 (GRCm38)	H107Q	probably damaging	Het
Or8u10	A	G	2: 86,085,312 (GRCm38)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,931,630 (GRCm38)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,402,522 (GRCm38)	M342L	probably benign	Het
Phax	A	G	18: 56,575,979 (GRCm38)	N183S	possibly damaging	Het
Pnck	A	T	X: 73,658,155 (GRCm38)	V93E	probably damaging	Het
Prol1	A	G	5: 88,328,216 (GRCm38)	N155S	unknown	Het
Ptprk	G	A	10: 28,263,512 (GRCm38)	V78I	probably benign	Het
Ptpru	A	T	4: 131,798,710 (GRCm38)		probably null	Het
Ptprv	A	G	1: 135,110,430 (GRCm38)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,757 (GRCm38)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,849,977 (GRCm38)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,285,029 (GRCm38)	S693P	probably benign	Het
Scyl2	A	T	10: 89,640,596 (GRCm38)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,119,675 (GRCm38)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,200,623 (GRCm38)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,428,551 (GRCm38)	V254I	probably benign	Het
Speer4e2	A	T	5: 14,977,649 (GRCm38)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,681,898 (GRCm38)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896 (GRCm38)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,108,818 (GRCm38)	V780E	possibly damaging	Het
Tns1	G	A	1: 73,995,308 (GRCm38)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,430,080 (GRCm38)	L3P	possibly damaging	Het
Ung	G	T	5: 114,130,623 (GRCm38)		probably null	Het
Usp32	T	A	11: 85,039,229 (GRCm38)	Y574F	probably damaging	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
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
R7744: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

PCR Primer
(F):5'- TGCGTTCGTAACTTCTGACCAC -3'
(R):5'- GAAACAGCTCTTCCCGATCC -3'

Sequencing Primer
(F):5'- AGGACCAAGCCTTTTCGAG -3'
(R):5'- GATCCCACCTCGACTCCTG -3'

Posted On

2015-05-15