Mutagenetix > Incidental Mutation

Incidental Mutation 'R7559:Cfap57'

584933

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

045653-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7559 (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: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adap1	C	A	5: 139,279,540	R206L	probably damaging	Het
Adcy3	A	G	12: 4,198,440	K501E	probably benign	Het
Agl	T	C	3: 116,752,115	D679G		Het
Ankrd10	A	T	8: 11,612,548	V395D	probably damaging	Het
Ano5	A	G	7: 51,574,888	I531V	probably damaging	Het
Apol9a	T	A	15: 77,404,561	H202L	possibly damaging	Het
Atp6v1c2	A	C	12: 17,301,214	I105M	probably benign	Het
Coro1b	T	C	19: 4,150,221		probably null	Het
D930020B18Rik	A	G	10: 121,656,226		probably benign	Het
Dcst2	T	C	3: 89,368,714	F384S	possibly damaging	Het
Ddx39	T	A	8: 83,720,966	F147I	possibly damaging	Het
Drosha	A	G	15: 12,842,422	E393G	probably damaging	Het
Etfdh	T	C	3: 79,623,579	Y45C	probably damaging	Het
Fam20c	G	T	5: 138,793,199	E287D	possibly damaging	Het
Flnc	T	A	6: 29,459,010	D2463E	probably damaging	Het
Flt4	A	T	11: 49,644,371	I1209F	possibly damaging	Het
Foxp1	T	C	6: 98,945,560	D437G	unknown	Het
Fras1	T	C	5: 96,740,854	V2753A	possibly damaging	Het
Ftsj3	T	C	11: 106,252,987	D277G	possibly damaging	Het
Gad1	T	C	2: 70,563,912		probably null	Het
Gal3st2c	A	G	1: 94,009,353	Y340C	probably damaging	Het
Gbp9	A	G	5: 105,085,109	F226L	probably damaging	Het
Gm11992	C	T	11: 9,052,747	P37S	possibly damaging	Het
Gm19668	G	T	10: 77,798,738	C132*	probably null	Het
Hdac3	A	T	18: 37,945,516	F139I	possibly damaging	Het
Hectd4	A	G	5: 121,315,510		probably null	Het
Helz	T	A	11: 107,600,278	S162T	possibly damaging	Het
Hspb6	C	A	7: 30,554,287	S75Y	probably damaging	Het
Il17rb	T	A	14: 29,997,043	I361F	probably damaging	Het
Iqsec3	A	T	6: 121,387,780	V850D	probably damaging	Het
Knl1	A	G	2: 119,094,006	E1840G	possibly damaging	Het
Lamc3	A	G	2: 31,922,368	K939R	probably benign	Het
Lmo7	C	T	14: 101,887,226	R496*	probably null	Het
Lsm14a	A	T	7: 34,353,401	C374*	probably null	Het
Luc7l	T	C	17: 26,255,115	L49P	probably damaging	Het
Mdga2	A	C	12: 66,473,229	C988G	probably damaging	Het
Mtf1	T	C	4: 124,820,206	V136A	probably damaging	Het
Myo7b	T	A	18: 31,983,360	I1016F	probably benign	Het
Nadsyn1	C	A	7: 143,808,067	A306S	probably benign	Het
Naip5	G	T	13: 100,219,697	Q1137K	not run	Het
Naip5	T	C	13: 100,219,696	Q1137R	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr504	C	T	7: 108,565,556	A80T	probably damaging	Het
Olfr538	T	A	7: 140,574,443	C97S	probably damaging	Het
Olfr654	C	A	7: 104,587,880	H25Q	probably damaging	Het
Opcml	A	T	9: 28,903,324	T291S	probably benign	Het
Osbp2	C	G	11: 3,712,493	K196N	probably damaging	Het
Otoa	T	C	7: 121,143,926	V792A	probably damaging	Het
Pcmtd1	A	G	1: 7,169,542	D245G	probably damaging	Het
Pcnx	T	C	12: 81,993,122	V1428A	unknown	Het
Pik3r4	A	G	9: 105,678,153	H1103R	probably benign	Het
Pjvk	C	T	2: 76,655,810	H185Y	probably benign	Het
Pkd1l3	T	C	8: 109,624,440	V639A	probably benign	Het
Pklr	T	C	3: 89,143,058	S405P	probably damaging	Het
Pla2g12a	T	A	3: 129,878,920	Y68N	probably damaging	Het
Proz	A	G	8: 13,063,455	H92R	probably benign	Het
Sec23ip	G	T	7: 128,777,350	V844F	possibly damaging	Het
Sema3f	A	G	9: 107,684,578	V520A	possibly damaging	Het
Serpinb12	A	G	1: 106,953,723	I197V	probably damaging	Het
Sim2	A	T	16: 94,109,359	I207F	possibly damaging	Het
Slc15a2	C	T	16: 36,751,897	V702I	probably benign	Het
Slc35f4	T	C	14: 49,304,275	I341V	probably benign	Het
Spam1	A	G	6: 24,800,453	Y397C	probably damaging	Het
Spire1	A	T	18: 67,501,117	M417K	probably benign	Het
Srcap	T	C	7: 127,530,550	S515P	unknown	Het
Tfrc	T	A	16: 32,621,417		probably null	Het
Topors	A	G	4: 40,261,401	S628P	unknown	Het
Trim71	T	C	9: 114,513,042	Y724C	probably damaging	Het
Ttn	C	T	2: 76,792,855	V15413I	probably damaging	Het
Vmn1r21	A	T	6: 57,844,242	N72K	probably damaging	Het
Vmn2r80	A	T	10: 79,194,625	M762L	probably benign	Het
Wdr62	A	G	7: 30,270,773	I203T	probably damaging	Het

Other mutations in Cfap57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Cfap57	APN	4	118581001	missense	probably benign	0.01
IGL00508:Cfap57	APN	4	118581170	splice site	probably null
IGL00857:Cfap57	APN	4	118612923	critical splice donor site	probably null
IGL01147:Cfap57	APN	4	118589001	missense	probably damaging	0.97
IGL01396:Cfap57	APN	4	118610595	missense	probably damaging	1.00
IGL01420:Cfap57	APN	4	118612940	missense	probably benign	0.21
IGL01615:Cfap57	APN	4	118600796	missense	probably damaging	1.00
IGL02154:Cfap57	APN	4	118613017	missense	probably damaging	1.00
IGL02161:Cfap57	APN	4	118579372	missense	possibly damaging	0.75
IGL02481:Cfap57	APN	4	118581105	missense	probably damaging	1.00
IGL02483:Cfap57	APN	4	118581105	missense	probably damaging	1.00
IGL02503:Cfap57	APN	4	118569348	critical splice donor site	probably null
IGL02800:Cfap57	APN	4	118614750	missense	probably damaging	1.00
IGL03083:Cfap57	APN	4	118584739	missense	probably damaging	0.96
IGL03146:Cfap57	APN	4	118599019	missense	probably damaging	1.00
IGL03246:Cfap57	APN	4	118576645	missense	probably benign	0.29
IGL03376:Cfap57	APN	4	118584720	missense	probably damaging	0.96
G1Funyon:Cfap57	UTSW	4	118593074	missense	possibly damaging	0.94
R0144:Cfap57	UTSW	4	118584705	missense	probably damaging	1.00
R0184:Cfap57	UTSW	4	118599012	missense	probably damaging	1.00
R0415:Cfap57	UTSW	4	118569431	missense	possibly damaging	0.89
R0515:Cfap57	UTSW	4	118620402	missense	probably damaging	1.00
R0690:Cfap57	UTSW	4	118569727	splice site	probably benign
R0730:Cfap57	UTSW	4	118612920	splice site	probably null
R0737:Cfap57	UTSW	4	118581102	missense	possibly damaging	0.81
R0854:Cfap57	UTSW	4	118561872	missense	probably benign	0.04
R0880:Cfap57	UTSW	4	118581838	nonsense	probably null
R1085:Cfap57	UTSW	4	118595779	missense	probably benign	0.20
R1119:Cfap57	UTSW	4	118606676	nonsense	probably null
R1217:Cfap57	UTSW	4	118606652	missense	possibly damaging	0.67
R1294:Cfap57	UTSW	4	118606534	critical splice donor site	probably null
R1487:Cfap57	UTSW	4	118614781	missense	probably benign	0.01
R1676:Cfap57	UTSW	4	118595940	missense	probably damaging	1.00
R1688:Cfap57	UTSW	4	118569646	missense	probably null	0.20
R1709:Cfap57	UTSW	4	118571704	missense	probably benign	0.00
R1719:Cfap57	UTSW	4	118606631	missense	probably benign	0.04
R1782:Cfap57	UTSW	4	118614975	missense	probably damaging	0.98
R1791:Cfap57	UTSW	4	118571724	missense	possibly damaging	0.66
R1850:Cfap57	UTSW	4	118599894	missense	probably damaging	1.00
R1866:Cfap57	UTSW	4	118599927	missense	possibly damaging	0.49
R1912:Cfap57	UTSW	4	118615010	missense	probably damaging	0.96
R1978:Cfap57	UTSW	4	118593132	missense	probably benign	0.03
R2177:Cfap57	UTSW	4	118606688	missense	probably benign	0.00
R2322:Cfap57	UTSW	4	118610725	missense	probably benign
R3905:Cfap57	UTSW	4	118595839	missense	probably damaging	1.00
R4013:Cfap57	UTSW	4	118593143	missense	probably benign	0.01
R4079:Cfap57	UTSW	4	118598997	missense	probably benign	0.34
R4962:Cfap57	UTSW	4	118613065	missense	probably benign	0.21
R4970:Cfap57	UTSW	4	118620371	missense	probably damaging	0.99
R4974:Cfap57	UTSW	4	118593054	missense	probably damaging	1.00
R4999:Cfap57	UTSW	4	118595848	missense	probably benign	0.01
R5482:Cfap57	UTSW	4	118569641	missense	probably benign
R5522:Cfap57	UTSW	4	118595888	missense	probably benign	0.41
R5626:Cfap57	UTSW	4	118614783	missense	probably damaging	1.00
R5685:Cfap57	UTSW	4	118569459	missense	probably benign
R5712:Cfap57	UTSW	4	118614795	missense	probably damaging	1.00
R5961:Cfap57	UTSW	4	118571745	missense	probably benign	0.00
R6244:Cfap57	UTSW	4	118579410	missense	probably damaging	0.99
R6268:Cfap57	UTSW	4	118569451	nonsense	probably null
R6271:Cfap57	UTSW	4	118595759	missense	probably benign	0.13
R6330:Cfap57	UTSW	4	118569396	missense	probably benign
R6439:Cfap57	UTSW	4	118588975	critical splice donor site	probably null
R6639:Cfap57	UTSW	4	118554712	missense	probably benign	0.13
R6722:Cfap57	UTSW	4	118584717	missense	probably damaging	1.00
R7033:Cfap57	UTSW	4	118613126	missense	possibly damaging	0.67
R7143:Cfap57	UTSW	4	118620709	unclassified	probably benign
R7162:Cfap57	UTSW	4	118614931	missense	probably benign
R7174:Cfap57	UTSW	4	118589067	missense	probably benign	0.35
R7210:Cfap57	UTSW	4	118576703	nonsense	probably null
R7242:Cfap57	UTSW	4	118593096	missense	possibly damaging	0.50
R7244:Cfap57	UTSW	4	118554800	nonsense	probably null
R7359:Cfap57	UTSW	4	118598965	missense	probably benign	0.01
R7373:Cfap57	UTSW	4	118614931	missense	probably benign
R7394:Cfap57	UTSW	4	118593137	missense	probably benign	0.00
R7401:Cfap57	UTSW	4	118614931	missense	probably benign
R7412:Cfap57	UTSW	4	118614931	missense	probably benign
R7414:Cfap57	UTSW	4	118614931	missense	probably benign
R7452:Cfap57	UTSW	4	118595784	missense	probably damaging	1.00
R7457:Cfap57	UTSW	4	118589001	missense	probably damaging	0.97
R7642:Cfap57	UTSW	4	118614931	missense	probably benign
R7741:Cfap57	UTSW	4	118614931	missense	probably benign
R7744:Cfap57	UTSW	4	118614931	missense	probably benign
R7745:Cfap57	UTSW	4	118614931	missense	probably benign
R7842:Cfap57	UTSW	4	118554755	nonsense	probably null
R7936:Cfap57	UTSW	4	118614931	missense	probably benign
R7940:Cfap57	UTSW	4	118614931	missense	probably benign
R7942:Cfap57	UTSW	4	118614931	missense	probably benign
R8074:Cfap57	UTSW	4	118569625	missense	possibly damaging	0.66
R8301:Cfap57	UTSW	4	118593074	missense	possibly damaging	0.94
R8411:Cfap57	UTSW	4	118614931	missense	probably benign
R8447:Cfap57	UTSW	4	118614931	missense	probably benign
R8491:Cfap57	UTSW	4	118614931	missense	probably benign
R8524:Cfap57	UTSW	4	118614931	missense	probably benign
R8670:Cfap57	UTSW	4	118614925	missense	possibly damaging	0.91
R8707:Cfap57	UTSW	4	118593006	missense	probably benign	0.04
R8790:Cfap57	UTSW	4	118581914	missense	possibly damaging	0.59
R8941:Cfap57	UTSW	4	118569602	missense	probably damaging	0.99
R9139:Cfap57	UTSW	4	118554851	missense	probably benign	0.02
R9212:Cfap57	UTSW	4	118579452	missense	possibly damaging	0.95
R9442:Cfap57	UTSW	4	118606534	critical splice donor site	probably null
R9525:Cfap57	UTSW	4	118576581	missense	probably damaging	1.00
X0022:Cfap57	UTSW	4	118614745	missense	probably benign
Z1088:Cfap57	UTSW	4	118581882	missense	probably benign	0.22
Z1177:Cfap57	UTSW	4	118598956	critical splice donor site	probably null

Predicted Primers

Posted On

2019-10-17