Mutagenetix > Incidental Mutation

Incidental Mutation 'R5626:Cfap57'

441833

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

043165-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

118411748-118477974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118471980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 133 (L133P)

Ref Sequence

ENSEMBL: ENSMUSP00000080592 (fasta)

Gene Model

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

AlphaFold

Q9D180

Predicted Effect

probably damaging
Transcript: ENSMUST00000071972
AA Change: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: L133P

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 damaging
Transcript: ENSMUST00000081921
AA Change: L133P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: L133P

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	C	3: 137,986,171 (GRCm39)	V53L	probably benign	Het
Arfgap2	C	T	2: 91,105,737 (GRCm39)	Q514*	probably null	Het
Calhm2	A	C	19: 47,121,558 (GRCm39)	C204G	probably damaging	Het
Carhsp1	T	C	16: 8,478,897 (GRCm39)	N119D	probably benign	Het
Clcn4	A	T	7: 7,292,017 (GRCm39)	V598E	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 131,661,581 (GRCm39)		probably benign	Het
Ddi1	T	C	9: 6,266,003 (GRCm39)	H122R	probably benign	Het
Dync1h1	A	G	12: 110,607,575 (GRCm39)	T2697A	probably benign	Het
Ednrb	T	A	14: 104,080,564 (GRCm39)	I117F	probably damaging	Het
Egflam	A	G	15: 7,280,688 (GRCm39)	S446P	possibly damaging	Het
F5	A	G	1: 164,036,604 (GRCm39)	I1922V	probably damaging	Het
Gpc1	T	A	1: 92,784,841 (GRCm39)		probably null	Het
Gphn	A	C	12: 78,730,671 (GRCm39)	I769L	probably benign	Het
Grid2	T	C	6: 64,053,929 (GRCm39)		probably null	Het
Hira	G	T	16: 18,746,262 (GRCm39)	Q468H	probably damaging	Het
Hmcn1	C	T	1: 150,532,318 (GRCm39)	G3154E	probably damaging	Het
Ighv16-1	G	A	12: 114,032,472 (GRCm39)	T92M	probably damaging	Het
Lcmt2	T	C	2: 120,969,943 (GRCm39)	E380G	probably benign	Het
Ms4a14	A	G	19: 11,281,419 (GRCm39)	F380L	probably benign	Het
Myof	T	C	19: 37,911,438 (GRCm39)	N1511D	probably benign	Het
Ncbp1	G	A	4: 46,161,290 (GRCm39)	S422N	probably damaging	Het
Pcolce	T	A	5: 137,608,661 (GRCm39)	T26S	probably damaging	Het
Pitpnm3	T	C	11: 72,003,158 (GRCm39)	I51V	probably benign	Het
Plcb3	T	C	19: 6,932,643 (GRCm39)	S1041G	probably benign	Het
Ppp5c	T	C	7: 16,761,629 (GRCm39)	D37G	probably benign	Het
Prkca	T	C	11: 107,948,641 (GRCm39)	D116G	possibly damaging	Het
Qrsl1	A	T	10: 43,757,516 (GRCm39)	D367E	probably benign	Het
Rbm26	T	C	14: 105,381,667 (GRCm39)	T493A	probably benign	Het
Saxo1	T	C	4: 86,363,826 (GRCm39)	E219G	probably damaging	Het
Slc22a16	A	T	10: 40,460,849 (GRCm39)		probably null	Het
Tmem30c	T	C	16: 57,096,506 (GRCm39)	N205S	possibly damaging	Het
Trp53i11	A	G	2: 93,029,723 (GRCm39)	N119S	possibly damaging	Het
Wnt3a	A	T	11: 59,181,409 (GRCm39)	I22N	probably benign	Het
Zfp998	A	G	13: 66,580,040 (GRCm39)	Y148H	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
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'- GAGTAAGTTCTAATCAGCACCGC -3'
(R):5'- CTATCTCCGAGACTGTGCAAG -3'

Sequencing Primer
(F):5'- TCTAACCCGTGCCTGGAAAGTAG -3'
(R):5'- GAAAAACCGGCCGTCACTATTTATG -3'

Posted On

2016-11-08