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

LOC384050, Wdr65, 1110020C03Rik, C130004B06Rik

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

118411748-118477974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118456194 bp (GRCm39)

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: 126,247,473 (GRCm39)		probably null	Het
Ankfy1	C	A	11: 72,580,835 (GRCm39)		probably benign	Het
Ap4b1	T	A	3: 103,720,694 (GRCm39)	N121K	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Armc9	A	T	1: 86,140,851 (GRCm39)		probably benign	Het
Bnc1	T	C	7: 81,623,508 (GRCm39)	E573G	probably damaging	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Cbfa2t3	A	G	8: 123,374,434 (GRCm39)		probably null	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdc45	A	T	16: 18,630,110 (GRCm39)	V19D	probably damaging	Het
Cnga3	A	T	1: 37,280,946 (GRCm39)	Q47L	possibly damaging	Het
Corin	T	C	5: 72,661,226 (GRCm39)	D89G	probably benign	Het
Cox16	A	T	12: 81,521,109 (GRCm39)		probably benign	Het
Cyp2a4	A	G	7: 26,006,791 (GRCm39)	N50S	probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Dlg5	T	C	14: 24,198,328 (GRCm39)	D1535G	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fcer1a	C	T	1: 173,052,920 (GRCm39)	C36Y	probably damaging	Het
Fcho2	A	G	13: 98,892,120 (GRCm39)	V318A	probably damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Kpna7	A	G	5: 144,942,737 (GRCm39)	I83T	possibly damaging	Het
Llgl1	C	A	11: 60,601,110 (GRCm39)		probably null	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Mfn1	T	G	3: 32,596,998 (GRCm39)	L152W	probably damaging	Het
Mog	A	G	17: 37,323,302 (GRCm39)	F212S	probably damaging	Het
Mpeg1	A	G	19: 12,439,634 (GRCm39)	N364S	probably damaging	Het
Mtmr3	C	T	11: 4,441,057 (GRCm39)	R531Q	probably damaging	Het
Mx2	A	G	16: 97,357,236 (GRCm39)	N443S	probably damaging	Het
Nfatc3	T	C	8: 106,806,123 (GRCm39)	Y323H	probably damaging	Het
Nup188	G	A	2: 30,199,890 (GRCm39)	D305N	probably damaging	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Or52x1	A	T	7: 104,853,228 (GRCm39)	H107Q	probably damaging	Het
Or8u10	A	G	2: 85,915,656 (GRCm39)	V155A	possibly damaging	Het
Patl1	C	T	19: 11,908,994 (GRCm39)	A467V	probably damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phax	A	G	18: 56,709,051 (GRCm39)	N183S	possibly damaging	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptpru	A	T	4: 131,526,021 (GRCm39)		probably null	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Rasgrp1	A	G	2: 117,115,510 (GRCm39)	S693P	probably benign	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Serpina3a	C	T	12: 104,085,934 (GRCm39)	Q320*	probably null	Het
Slc12a1	A	T	2: 125,042,543 (GRCm39)	N733I	possibly damaging	Het
Snap47	C	T	11: 59,319,377 (GRCm39)	V254I	probably benign	Het
Speer4e2	A	T	5: 15,027,663 (GRCm39)	L71Q	probably damaging	Het
St6galnac2	A	T	11: 116,572,724 (GRCm39)	L244Q	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tns1	G	A	1: 74,034,467 (GRCm39)	R192C	probably damaging	Het
Trav6-3	T	C	14: 53,667,537 (GRCm39)	L3P	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp32	T	A	11: 84,930,055 (GRCm39)	Y574F	probably damaging	Het

Other mutations in Cfap57

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Cfap57	APN	4	118,438,198 (GRCm39)	missense	probably benign	0.01
IGL00508:Cfap57	APN	4	118,438,367 (GRCm39)	splice site	probably null
IGL00857:Cfap57	APN	4	118,470,120 (GRCm39)	critical splice donor site	probably null
IGL01147:Cfap57	APN	4	118,446,198 (GRCm39)	missense	probably damaging	0.97
IGL01396:Cfap57	APN	4	118,467,792 (GRCm39)	missense	probably damaging	1.00
IGL01420:Cfap57	APN	4	118,470,137 (GRCm39)	missense	probably benign	0.21
IGL01615:Cfap57	APN	4	118,457,993 (GRCm39)	missense	probably damaging	1.00
IGL02154:Cfap57	APN	4	118,470,214 (GRCm39)	missense	probably damaging	1.00
IGL02161:Cfap57	APN	4	118,436,569 (GRCm39)	missense	possibly damaging	0.75
IGL02481:Cfap57	APN	4	118,438,302 (GRCm39)	missense	probably damaging	1.00
IGL02483:Cfap57	APN	4	118,438,302 (GRCm39)	missense	probably damaging	1.00
IGL02503:Cfap57	APN	4	118,426,545 (GRCm39)	critical splice donor site	probably null
IGL02800:Cfap57	APN	4	118,471,947 (GRCm39)	missense	probably damaging	1.00
IGL03083:Cfap57	APN	4	118,441,936 (GRCm39)	missense	probably damaging	0.96
IGL03146:Cfap57	APN	4	118,456,216 (GRCm39)	missense	probably damaging	1.00
IGL03246:Cfap57	APN	4	118,433,842 (GRCm39)	missense	probably benign	0.29
IGL03376:Cfap57	APN	4	118,441,917 (GRCm39)	missense	probably damaging	0.96
G1Funyon:Cfap57	UTSW	4	118,450,271 (GRCm39)	missense	possibly damaging	0.94
R0144:Cfap57	UTSW	4	118,441,902 (GRCm39)	missense	probably damaging	1.00
R0184:Cfap57	UTSW	4	118,456,209 (GRCm39)	missense	probably damaging	1.00
R0415:Cfap57	UTSW	4	118,426,628 (GRCm39)	missense	possibly damaging	0.89
R0515:Cfap57	UTSW	4	118,477,599 (GRCm39)	missense	probably damaging	1.00
R0690:Cfap57	UTSW	4	118,426,924 (GRCm39)	splice site	probably benign
R0730:Cfap57	UTSW	4	118,470,117 (GRCm39)	splice site	probably null
R0737:Cfap57	UTSW	4	118,438,299 (GRCm39)	missense	possibly damaging	0.81
R0854:Cfap57	UTSW	4	118,419,069 (GRCm39)	missense	probably benign	0.04
R0880:Cfap57	UTSW	4	118,439,035 (GRCm39)	nonsense	probably null
R1085:Cfap57	UTSW	4	118,452,976 (GRCm39)	missense	probably benign	0.20
R1119:Cfap57	UTSW	4	118,463,873 (GRCm39)	nonsense	probably null
R1217:Cfap57	UTSW	4	118,463,849 (GRCm39)	missense	possibly damaging	0.67
R1294:Cfap57	UTSW	4	118,463,731 (GRCm39)	critical splice donor site	probably null
R1487:Cfap57	UTSW	4	118,471,978 (GRCm39)	missense	probably benign	0.01
R1676:Cfap57	UTSW	4	118,453,137 (GRCm39)	missense	probably damaging	1.00
R1688:Cfap57	UTSW	4	118,426,843 (GRCm39)	missense	probably null	0.20
R1709:Cfap57	UTSW	4	118,428,901 (GRCm39)	missense	probably benign	0.00
R1719:Cfap57	UTSW	4	118,463,828 (GRCm39)	missense	probably benign	0.04
R1782:Cfap57	UTSW	4	118,472,172 (GRCm39)	missense	probably damaging	0.98
R1791:Cfap57	UTSW	4	118,428,921 (GRCm39)	missense	possibly damaging	0.66
R1850:Cfap57	UTSW	4	118,457,091 (GRCm39)	missense	probably damaging	1.00
R1866:Cfap57	UTSW	4	118,457,124 (GRCm39)	missense	possibly damaging	0.49
R1912:Cfap57	UTSW	4	118,472,207 (GRCm39)	missense	probably damaging	0.96
R1978:Cfap57	UTSW	4	118,450,329 (GRCm39)	missense	probably benign	0.03
R2177:Cfap57	UTSW	4	118,463,885 (GRCm39)	missense	probably benign	0.00
R2322:Cfap57	UTSW	4	118,467,922 (GRCm39)	missense	probably benign
R3905:Cfap57	UTSW	4	118,453,036 (GRCm39)	missense	probably damaging	1.00
R4013:Cfap57	UTSW	4	118,450,340 (GRCm39)	missense	probably benign	0.01
R4962:Cfap57	UTSW	4	118,470,262 (GRCm39)	missense	probably benign	0.21
R4970:Cfap57	UTSW	4	118,477,568 (GRCm39)	missense	probably damaging	0.99
R4974:Cfap57	UTSW	4	118,450,251 (GRCm39)	missense	probably damaging	1.00
R4999:Cfap57	UTSW	4	118,453,045 (GRCm39)	missense	probably benign	0.01
R5482:Cfap57	UTSW	4	118,426,838 (GRCm39)	missense	probably benign
R5522:Cfap57	UTSW	4	118,453,085 (GRCm39)	missense	probably benign	0.41
R5626:Cfap57	UTSW	4	118,471,980 (GRCm39)	missense	probably damaging	1.00
R5685:Cfap57	UTSW	4	118,426,656 (GRCm39)	missense	probably benign
R5712:Cfap57	UTSW	4	118,471,992 (GRCm39)	missense	probably damaging	1.00
R5961:Cfap57	UTSW	4	118,428,942 (GRCm39)	missense	probably benign	0.00
R6244:Cfap57	UTSW	4	118,436,607 (GRCm39)	missense	probably damaging	0.99
R6268:Cfap57	UTSW	4	118,426,648 (GRCm39)	nonsense	probably null
R6271:Cfap57	UTSW	4	118,452,956 (GRCm39)	missense	probably benign	0.13
R6330:Cfap57	UTSW	4	118,426,593 (GRCm39)	missense	probably benign
R6439:Cfap57	UTSW	4	118,446,172 (GRCm39)	critical splice donor site	probably null
R6639:Cfap57	UTSW	4	118,411,909 (GRCm39)	missense	probably benign	0.13
R6722:Cfap57	UTSW	4	118,441,914 (GRCm39)	missense	probably damaging	1.00
R7033:Cfap57	UTSW	4	118,470,323 (GRCm39)	missense	possibly damaging	0.67
R7143:Cfap57	UTSW	4	118,477,906 (GRCm39)	unclassified	probably benign
R7162:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7174:Cfap57	UTSW	4	118,446,264 (GRCm39)	missense	probably benign	0.35
R7210:Cfap57	UTSW	4	118,433,900 (GRCm39)	nonsense	probably null
R7242:Cfap57	UTSW	4	118,450,293 (GRCm39)	missense	possibly damaging	0.50
R7244:Cfap57	UTSW	4	118,411,997 (GRCm39)	nonsense	probably null
R7359:Cfap57	UTSW	4	118,456,162 (GRCm39)	missense	probably benign	0.01
R7373:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7394:Cfap57	UTSW	4	118,450,334 (GRCm39)	missense	probably benign	0.00
R7401:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7412:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7414:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7452:Cfap57	UTSW	4	118,452,981 (GRCm39)	missense	probably damaging	1.00
R7457:Cfap57	UTSW	4	118,446,198 (GRCm39)	missense	probably damaging	0.97
R7559:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7642:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7741:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7744:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7745:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7842:Cfap57	UTSW	4	118,411,952 (GRCm39)	nonsense	probably null
R7936:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7940:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R7942:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R8074:Cfap57	UTSW	4	118,426,822 (GRCm39)	missense	possibly damaging	0.66
R8301:Cfap57	UTSW	4	118,450,271 (GRCm39)	missense	possibly damaging	0.94
R8411:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R8447:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R8491:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R8524:Cfap57	UTSW	4	118,472,128 (GRCm39)	missense	probably benign
R8670:Cfap57	UTSW	4	118,472,122 (GRCm39)	missense	possibly damaging	0.91
R8707:Cfap57	UTSW	4	118,450,203 (GRCm39)	missense	probably benign	0.04
R8790:Cfap57	UTSW	4	118,439,111 (GRCm39)	missense	possibly damaging	0.59
R8941:Cfap57	UTSW	4	118,426,799 (GRCm39)	missense	probably damaging	0.99
R9139:Cfap57	UTSW	4	118,412,048 (GRCm39)	missense	probably benign	0.02
R9212:Cfap57	UTSW	4	118,436,649 (GRCm39)	missense	possibly damaging	0.95
R9442:Cfap57	UTSW	4	118,463,731 (GRCm39)	critical splice donor site	probably null
R9525:Cfap57	UTSW	4	118,433,778 (GRCm39)	missense	probably damaging	1.00
X0022:Cfap57	UTSW	4	118,471,942 (GRCm39)	missense	probably benign
Z1088:Cfap57	UTSW	4	118,439,079 (GRCm39)	missense	probably benign	0.22
Z1177:Cfap57	UTSW	4	118,456,153 (GRCm39)	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