Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03246:Cfap57'

414404

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap57

Ensembl Gene

ENSMUSG00000028730

Gene Name

cilia and flagella associated protein 57

Synonyms

LOC384050, Wdr65, 1110020C03Rik, C130004B06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03246

Quality Score

Status

Chromosome

Chromosomal Location

118411748-118477974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118433842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 979 (I979L)

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: I979L

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: I979L

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: I979L

PolyPhen 2 Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: I979L

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921511C20Rik	T	A	X: 126,303,238 (GRCm39)	H392Q	probably benign	Het
Alox8	T	A	11: 69,076,841 (GRCm39)	I547L	probably damaging	Het
Capn13	T	C	17: 73,689,855 (GRCm39)	H52R	probably benign	Het
Ctdnep1	T	C	11: 69,875,156 (GRCm39)		probably benign	Het
Ercc5	C	A	1: 44,206,241 (GRCm39)	P385T	probably damaging	Het
Fam98a	C	T	17: 75,845,848 (GRCm39)	M299I	probably damaging	Het
Flcn	A	T	11: 59,684,936 (GRCm39)	I505N	possibly damaging	Het
Fn1	G	A	1: 71,663,455 (GRCm39)	T1011I	possibly damaging	Het
Klhl28	T	C	12: 65,004,060 (GRCm39)	D151G	probably benign	Het
Klk13	T	A	7: 43,370,422 (GRCm39)	N28K	probably damaging	Het
Macc1	T	C	12: 119,410,420 (GRCm39)	V396A	probably benign	Het
Mageb11	C	A	X: 89,936,008 (GRCm39)	H87Q	probably benign	Het
Magi2	T	A	5: 20,563,948 (GRCm39)	I360K	probably damaging	Het
Myh7b	T	C	2: 155,459,792 (GRCm39)	I251T	probably damaging	Het
Naalad2	A	T	9: 18,296,395 (GRCm39)	I85K	possibly damaging	Het
Or5ae1	T	C	7: 84,565,919 (GRCm39)	C311R	probably benign	Het
Pbrm1	A	T	14: 30,832,506 (GRCm39)	M1490L	probably benign	Het
Pclo	C	T	5: 14,727,631 (GRCm39)		probably benign	Het
Pdcd6ip	T	C	9: 113,507,485 (GRCm39)	K357R	possibly damaging	Het
Pnpla6	C	T	8: 3,581,530 (GRCm39)	T601I	probably benign	Het
Pof1b	A	T	X: 111,557,817 (GRCm39)	N366K	probably benign	Het
Prr9	A	G	3: 92,030,286 (GRCm39)		probably benign	Het
Ptprz1	G	T	6: 22,986,159 (GRCm39)	A320S	probably damaging	Het
Ripor1	A	G	8: 106,342,490 (GRCm39)	Y187C	possibly damaging	Het
Rnf13	A	G	3: 57,676,471 (GRCm39)	E42G	probably damaging	Het
Sdf4	T	C	4: 156,085,154 (GRCm39)	V163A	probably benign	Het
Smc2	C	T	4: 52,440,301 (GRCm39)	Q16*	probably null	Het
Srsf3-ps	T	A	11: 98,516,119 (GRCm39)	R85*	probably null	Het
Tbck	T	A	3: 132,480,331 (GRCm39)	C737S	probably benign	Het
Tra2a	A	T	6: 49,226,019 (GRCm39)	Y140*	probably null	Het
Vcpip1	A	C	1: 9,816,182 (GRCm39)	L734V	probably benign	Het
Vmn1r87	G	A	7: 12,866,288 (GRCm39)		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
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
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

Posted On

2016-08-02