Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02800:Cfap57'

360159

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 #

IGL02800

Quality Score

Status

Chromosome

Chromosomal Location

118411748-118477974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 118471947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 144 (M144K)

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: M144K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730
AA Change: M144K

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: M144K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730
AA Change: M144K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,349 (GRCm39)	I1045T	probably damaging	Het
Ankrd22	T	C	19: 34,143,181 (GRCm39)		probably benign	Het
Bahcc1	A	G	11: 120,163,760 (GRCm39)	D686G	probably damaging	Het
Carns1	A	G	19: 4,216,569 (GRCm39)		probably benign	Het
Cc2d1b	C	T	4: 108,483,333 (GRCm39)	L306F	probably benign	Het
Ccdc153	A	G	9: 44,157,129 (GRCm39)	E135G	probably damaging	Het
Ccne1	T	C	7: 37,802,224 (GRCm39)	D148G	probably damaging	Het
Chd6	A	G	2: 160,826,552 (GRCm39)	V1049A	probably damaging	Het
Cpne9	A	G	6: 113,279,034 (GRCm39)	D476G	probably benign	Het
Dna2	T	C	10: 62,797,504 (GRCm39)		probably null	Het
Eif4h	T	C	5: 134,656,459 (GRCm39)	D77G	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Fxyd5	C	T	7: 30,732,404 (GRCm39)	R176H	possibly damaging	Het
G6pd2	A	G	5: 61,966,735 (GRCm39)	E170G	probably damaging	Het
Haus3	A	G	5: 34,323,668 (GRCm39)	I314T	possibly damaging	Het
Igkv4-54	A	G	6: 69,608,862 (GRCm39)	V41A	probably damaging	Het
Kidins220	T	A	12: 25,053,092 (GRCm39)	C461S	probably damaging	Het
Lsr	T	C	7: 30,657,838 (GRCm39)	D442G	probably damaging	Het
Mecom	T	C	3: 30,015,183 (GRCm39)	I847V	probably damaging	Het
Mia2	C	T	12: 59,235,277 (GRCm39)	R1326*	probably null	Het
Myo15a	C	A	11: 60,393,195 (GRCm39)	H2240N	probably damaging	Het
Or1e17	A	G	11: 73,831,942 (GRCm39)	Y290C	probably damaging	Het
Or4f62	A	T	2: 111,986,589 (GRCm39)	I98F	possibly damaging	Het
Osgep	T	A	14: 51,153,314 (GRCm39)		probably benign	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pgm3	T	C	9: 86,437,431 (GRCm39)	E481G	possibly damaging	Het
Plch1	T	A	3: 63,605,899 (GRCm39)	D1326V	probably benign	Het
Rabgap1l	T	C	1: 160,299,623 (GRCm39)	D590G	possibly damaging	Het
Rapsn	A	G	2: 90,873,584 (GRCm39)	M244V	probably benign	Het
Rcbtb2	T	A	14: 73,405,543 (GRCm39)	Y299*	probably null	Het
Slc8a1	A	T	17: 81,715,752 (GRCm39)	D760E	probably benign	Het
Smim23	C	A	11: 32,774,424 (GRCm39)		probably null	Het
Sva	A	G	6: 42,017,069 (GRCm39)	T59A	unknown	Het
Tacc2	T	A	7: 130,225,809 (GRCm39)	D831E	probably benign	Het
Tasor2	T	C	13: 3,635,154 (GRCm39)	N551S	probably benign	Het
Tg	G	T	15: 66,629,735 (GRCm39)	W472L	probably damaging	Het
Tmem231	A	G	8: 112,640,664 (GRCm39)	V283A	probably benign	Het
Traf4	A	T	11: 78,051,061 (GRCm39)	I365N	possibly damaging	Het
Usf3	G	A	16: 44,039,459 (GRCm39)	S1313N	probably benign	Het
Vangl1	G	A	3: 102,070,611 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 8,111,980 (GRCm39)	S88G	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
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
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

2015-12-18