Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02161:Cfap57'

282470

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap57

Ensembl Gene

ENSMUSG00000028730

Gene Name

cilia and flagella associated protein 57

Synonyms

Wdr65, 1110020C03Rik, C130004B06Rik, LOC384050

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02161

Quality Score

Status

Chromosome

Chromosomal Location

118554551-118620777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 118579372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 942 (R942S)

Ref Sequence

ENSEMBL: ENSMUSP00000080592 (fasta)

Gene Model

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

AlphaFold

Q9D180

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071972
AA Change: R942S

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: R942S

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

possibly damaging
Transcript: ENSMUST00000081921
AA Change: R942S

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: R942S

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

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,874,755 (GRCm38)	V1024D	probably benign	Het
Alox5	T	A	6: 116,423,193 (GRCm38)	M262L	probably benign	Het
Arid5b	T	C	10: 68,096,668 (GRCm38)	T1135A	probably benign	Het
Ascc3	T	A	10: 50,850,527 (GRCm38)	Y2177*	probably null	Het
Birc6	A	C	17: 74,548,837 (GRCm38)	H214P	probably damaging	Het
Catsperb	T	A	12: 101,409,415 (GRCm38)		probably benign	Het
Ccr1l1	G	A	9: 123,977,963 (GRCm38)	T149I	possibly damaging	Het
Crocc	G	A	4: 141,033,991 (GRCm38)	A941V	probably benign	Het
Csde1	A	G	3: 103,050,338 (GRCm38)	Q471R	probably damaging	Het
Csmd1	C	T	8: 16,358,412 (GRCm38)	V380I	probably damaging	Het
Dhx8	A	T	11: 101,757,606 (GRCm38)	Q857L	probably damaging	Het
Eftud2	A	G	11: 102,854,876 (GRCm38)		probably benign	Het
Fat3	C	A	9: 15,997,050 (GRCm38)	R2552I	probably benign	Het
Fat3	T	A	9: 15,997,051 (GRCm38)	R2552*	probably null	Het
Fbln7	A	T	2: 128,889,791 (GRCm38)	K166I	probably benign	Het
Glrx2	C	T	1: 143,739,683 (GRCm38)	S8L	possibly damaging	Het
Grin2d	T	G	7: 45,854,422 (GRCm38)	I630L	possibly damaging	Het
Gsap	T	A	5: 21,253,379 (GRCm38)	W423R	probably damaging	Het
Kifc2	A	G	15: 76,666,045 (GRCm38)	E468G	probably damaging	Het
Kpnb1	A	G	11: 97,168,936 (GRCm38)	S566P	probably benign	Het
Lemd2	A	G	17: 27,190,651 (GRCm38)	S509P	probably damaging	Het
Lepr	T	C	4: 101,745,678 (GRCm38)	F221S	probably damaging	Het
Nynrin	T	C	14: 55,863,984 (GRCm38)	F370S	probably damaging	Het
Or51a10	C	A	7: 104,049,590 (GRCm38)	V255L	possibly damaging	Het
Pcdhb15	T	A	18: 37,475,502 (GRCm38)	S596T	possibly damaging	Het
Prkcq	G	T	2: 11,277,076 (GRCm38)	S472I	probably benign	Het
Rabgef1	T	C	5: 130,207,099 (GRCm38)		probably benign	Het
Rnd3	C	T	2: 51,134,076 (GRCm38)	V164M	probably benign	Het
Rtn4rl1	G	A	11: 75,265,840 (GRCm38)	R366Q	probably damaging	Het
Sesn2	A	T	4: 132,496,918 (GRCm38)	I393N	probably damaging	Het
St8sia2	T	C	7: 73,976,682 (GRCm38)	N46S	probably benign	Het
Svopl	A	G	6: 38,036,815 (GRCm38)		probably benign	Het
Tbr1	C	T	2: 61,805,239 (GRCm38)	Q178*	probably null	Het
Vax2	T	C	6: 83,737,903 (GRCm38)	S267P	probably damaging	Het
Vmn1r47	T	A	6: 90,022,316 (GRCm38)	Y143*	probably null	Het
Vmn2r28	A	G	7: 5,488,124 (GRCm38)	S375P	possibly damaging	Het
Vmn2r44	A	T	7: 8,377,815 (GRCm38)	Y360N	possibly damaging	Het
Zc3h6	G	A	2: 128,993,226 (GRCm38)	S94N	possibly 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
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
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

Posted On

2015-04-16