Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Cfap57'

434373

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

043043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118554551-118620777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118569641 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1067 (G1067R)

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: G1067R

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

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: G1067R

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: G1067R

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

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: G1067R

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

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	A	T	8: 36,512,049 (GRCm38)	M269L	probably benign	Het
9230109A22Rik	T	C	15: 25,138,950 (GRCm38)		noncoding transcript	Het
Abca15	T	C	7: 120,369,147 (GRCm38)	L801P	probably damaging	Het
Acap3	A	G	4: 155,900,156 (GRCm38)	D212G	probably benign	Het
Acsl6	G	A	11: 54,327,138 (GRCm38)	D166N	probably damaging	Het
Acy1	T	C	9: 106,434,639 (GRCm38)		probably benign	Het
Adgrl3	A	G	5: 81,794,513 (GRCm38)	N1368S	probably damaging	Het
Akap5	T	C	12: 76,328,826 (GRCm38)	I344T	probably benign	Het
Aplp1	A	G	7: 30,440,175 (GRCm38)	F399S	probably damaging	Het
Arap3	A	G	18: 37,974,674 (GRCm38)	S1302P	possibly damaging	Het
Bik	T	G	15: 83,544,134 (GRCm38)	V121G	probably damaging	Het
Birc6	A	G	17: 74,662,690 (GRCm38)	T4237A	probably damaging	Het
Birc6	A	T	17: 74,641,782 (GRCm38)	M3069L	possibly damaging	Het
Btn2a2	T	C	13: 23,486,387 (GRCm38)	N59D	probably benign	Het
Cabyr	A	G	18: 12,751,439 (GRCm38)	S328G	possibly damaging	Het
Cryl1	A	T	14: 57,313,012 (GRCm38)	F132I	probably damaging	Het
Dnah8	G	A	17: 30,800,547 (GRCm38)	E3865K	probably damaging	Het
Dock3	G	A	9: 106,978,738 (GRCm38)	R741*	probably null	Het
Fam57b	A	G	7: 126,827,488 (GRCm38)	T78A	possibly damaging	Het
Fam69a	C	G	5: 107,909,663 (GRCm38)	C343S	probably damaging	Het
Fsip2	C	T	2: 82,985,310 (GRCm38)	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm38)	Y39S	probably benign	Het
Gm5535	C	A	2: 144,174,572 (GRCm38)		noncoding transcript	Het
Gmcl1	A	T	6: 86,718,073 (GRCm38)	M202K	probably damaging	Het
Hecw2	T	A	1: 53,926,201 (GRCm38)	M489L	probably benign	Het
Lrrk1	A	G	7: 66,330,670 (GRCm38)	I254T	probably benign	Het
Lrrn3	G	A	12: 41,452,387 (GRCm38)	L644F	probably benign	Het
Lrrn3	A	C	12: 41,452,388 (GRCm38)	C643W	probably damaging	Het
Nr2f6	A	T	8: 71,374,538 (GRCm38)	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,811,531 (GRCm38)	Y130C	probably damaging	Het
Olfr1448	T	C	19: 12,919,905 (GRCm38)	T135A	probably damaging	Het
Olfr788	T	C	10: 129,473,078 (GRCm38)	Y129H	probably benign	Het
Otogl	T	A	10: 107,821,941 (GRCm38)	I1043F	probably damaging	Het
Padi3	G	A	4: 140,795,843 (GRCm38)	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,731,532 (GRCm38)	N127D	probably damaging	Het
Pign	A	G	1: 105,546,710 (GRCm38)	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,293,063 (GRCm38)	E2G	probably damaging	Het
Ppp1r18	G	A	17: 35,873,879 (GRCm38)	E141K	probably damaging	Het
Ralbp1	A	C	17: 65,861,568 (GRCm38)	Y247*	probably null	Het
Ripply2	A	G	9: 87,015,567 (GRCm38)	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,637,332 (GRCm38)		probably null	Het
Skint2	T	G	4: 112,625,879 (GRCm38)	C160W	probably damaging	Het
Sun2	C	T	15: 79,737,511 (GRCm38)	R172Q	probably benign	Het
Syna	A	G	5: 134,559,174 (GRCm38)	L307P	possibly damaging	Het
Trappc12	T	C	12: 28,691,325 (GRCm38)	K795R	probably damaging	Het
Ttll11	A	G	2: 35,752,406 (GRCm38)	S638P	probably damaging	Het
Usp2	G	A	9: 44,089,183 (GRCm38)		probably null	Het
Vmn2r26	A	T	6: 124,061,326 (GRCm38)	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,841,904 (GRCm38)	H103L	probably benign	Het
Wnt5b	T	C	6: 119,446,431 (GRCm38)	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,153,526 (GRCm38)	R146Q	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
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
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'- TGAGTTCAACCCTGCAATCTCC -3'
(R):5'- CATCTAGGTTTCTGTGCCCAG -3'

Sequencing Primer
(F):5'- TGCAATCTCCACCTGGCG -3'
(R):5'- CAGTCAGGTGTTCATCCCAGATG -3'

Posted On

2016-10-06