Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Cfap57'

596780

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

045801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

118411748-118477974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118472128 bp (GRCm39)

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Piwil2	T	A	14: 70,631,638 (GRCm39)	H602L	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	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
R4079:Cfap57	UTSW	4	118,456,194 (GRCm39)	missense	probably benign	0.34
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
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

Posted On

2019-11-26