Mutagenetix > Incidental Mutation

Incidental Mutation 'R6330:Cfap57'

510849

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

044484-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118554551-118620777 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118569396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1119 (I1119V)

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: I1119V

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

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: I1119V

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: I1119V

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

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: I1119V

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (46/47)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	T	A	16: 88,627,051 (GRCm38)	H184L	probably benign	Het
9230104L09Rik	G	T	2: 148,850,825 (GRCm38)	A19D	probably damaging	Het
Ccar1	A	G	10: 62,764,533 (GRCm38)	Y540H	probably damaging	Het
Celf2	A	G	2: 6,884,955 (GRCm38)	F2L	probably benign	Het
Clec4f	T	C	6: 83,652,868 (GRCm38)	Q236R	probably damaging	Het
Cyp4a31	C	T	4: 115,563,877 (GRCm38)	P54L	probably damaging	Het
Dapk1	T	C	13: 60,761,326 (GRCm38)	V1251A	probably benign	Het
Dnah7b	G	A	1: 46,340,175 (GRCm38)	V3690M	probably damaging	Het
Dock9	A	T	14: 121,605,243 (GRCm38)	M1K	probably null	Het
Emb	T	G	13: 117,249,130 (GRCm38)		probably null	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
F7	C	T	8: 13,035,140 (GRCm38)	H389Y	probably damaging	Het
Fam111a	T	A	19: 12,586,902 (GRCm38)	I49K	probably damaging	Het
Fam50b	T	G	13: 34,746,669 (GRCm38)	S43A	probably benign	Het
Gbp7	A	T	3: 142,546,498 (GRCm38)	Y614F	probably benign	Het
Gli3	T	A	13: 15,724,732 (GRCm38)	D901E	probably damaging	Het
Hhatl	C	T	9: 121,788,225 (GRCm38)		probably null	Het
Idua	T	A	5: 108,681,708 (GRCm38)	L432H	probably benign	Het
Ighv10-3	T	A	12: 114,523,466 (GRCm38)	T112S	possibly damaging	Het
Kcnj6	T	A	16: 94,762,601 (GRCm38)	D346V	possibly damaging	Het
Lrba	A	G	3: 86,348,357 (GRCm38)	D1002G	probably benign	Het
Lrrd1	T	A	5: 3,850,629 (GRCm38)	S311R	probably damaging	Het
Mafk	A	G	5: 139,799,193 (GRCm38)	N4S	probably benign	Het
Mfsd14b	T	C	13: 65,095,686 (GRCm38)	Y48C	probably damaging	Het
Mindy3	C	T	2: 12,356,933 (GRCm38)	A333T	probably damaging	Het
Mlxip	G	A	5: 123,394,952 (GRCm38)	C8Y	probably benign	Het
Mthfd1l	A	T	10: 3,980,234 (GRCm38)	M110L	probably benign	Het
Myo5b	G	A	18: 74,616,993 (GRCm38)	A176T	probably damaging	Het
Olfr128	T	C	17: 37,923,794 (GRCm38)	V76A	possibly damaging	Het
Olfr366	A	T	2: 37,220,124 (GRCm38)	I212F	probably benign	Het
Orc2	C	A	1: 58,500,334 (GRCm38)	V49L	probably benign	Het
Pfkp	C	T	13: 6,585,250 (GRCm38)		probably benign	Het
Pkd1l3	T	C	8: 109,646,909 (GRCm38)	F1359S	probably benign	Het
Ralgps1	A	T	2: 33,174,443 (GRCm38)	I222N	probably damaging	Het
Rrad	T	G	8: 104,629,860 (GRCm38)	E136A	probably benign	Het
Serpine3	T	C	14: 62,664,981 (GRCm38)	S14P	probably benign	Het
Slc2a12	A	G	10: 22,664,995 (GRCm38)	T250A	probably benign	Het
Slc4a5	T	G	6: 83,226,374 (GRCm38)	F85L	probably benign	Het
Stx18	T	A	5: 38,126,917 (GRCm38)		probably null	Het
Tbcd	T	C	11: 121,497,086 (GRCm38)	S348P	probably benign	Het
Usp9y	T	C	Y: 1,340,123 (GRCm38)	T1419A	probably benign	Homo
Vmn2r69	T	C	7: 85,411,627 (GRCm38)	S250G	probably benign	Het
Vmn2r86	A	G	10: 130,446,527 (GRCm38)	V740A	probably benign	Het
Vwa5b2	T	A	16: 20,601,977 (GRCm38)	I846N	probably damaging	Het
Zfp74	A	T	7: 29,937,987 (GRCm38)	Y33N	probably damaging	Het
Zfp825	T	C	13: 74,480,546 (GRCm38)	T284A	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
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
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'- TGACAGCCAGGATGAGCTAC -3'
(R):5'- GAAGATCCGTGGCCTCTTTG -3'

Sequencing Primer
(F):5'- CAGGATGAGCTACTGGAGATC -3'
(R):5'- CCTCTTTGAGAAGTACGTGCAGC -3'

Posted On

2018-04-02