Mutagenetix > Incidental Mutation

Incidental Mutation 'R0048:Cfap53'

15826

Institutional Source

Beutler Lab

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

MMRRC Submission

038342-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.487) question?

Stock #

R0048 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

74416171-74493055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74432244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 44 (Y44F)

Ref Sequence

ENSEMBL: ENSMUSP00000110545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114895] [ENSMUST00000176435] [ENSMUST00000177101]

AlphaFold

Q9D439

Predicted Effect

probably benign
Transcript: ENSMUST00000114895
AA Change: Y44F

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: Y44F

Domain	Start	End	E-Value	Type
low complexity region	131	145	N/A	INTRINSIC
Pfam:TPH	160	495	1.3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122178

Predicted Effect

probably benign
Transcript: ENSMUST00000176435

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176766

Predicted Effect

probably benign
Transcript: ENSMUST00000177101

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 90.1%
3x: 87.7%
10x: 82.5%
20x: 75.5%

Validation Efficiency

94% (92/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CFAP53 family. It was found to be differentially expressed by the ciliated cells of frog epidermis and in skin fibroblasts from human. Mutations in this gene are associated with visceral heterotaxy-6, which implicates this gene in determination of left-right asymmetric patterning. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,140,563 (GRCm39)	I299T	probably benign	Het
Ankrd12	A	G	17: 66,291,798 (GRCm39)	S1212P	probably damaging	Het
Ankrd50	A	G	3: 38,537,198 (GRCm39)	S52P	probably benign	Het
Aox1	A	G	1: 58,112,371 (GRCm39)	E715G	probably damaging	Het
Arid1b	T	C	17: 5,364,309 (GRCm39)		probably null	Het
Brca1	A	G	11: 101,415,803 (GRCm39)	V777A	possibly damaging	Het
Btaf1	G	T	19: 36,980,924 (GRCm39)	A1582S	probably benign	Het
Cblif	G	A	19: 11,727,120 (GRCm39)	V110M	possibly damaging	Het
Ccdc184	G	A	15: 98,066,341 (GRCm39)	A49T	probably damaging	Het
Cd109	A	C	9: 78,587,303 (GRCm39)	Y657S	possibly damaging	Het
Cped1	T	A	6: 22,119,601 (GRCm39)	N353K	probably benign	Het
Dcaf10	T	G	4: 45,374,262 (GRCm39)	Y562*	probably null	Het
Eno4	T	C	19: 58,952,970 (GRCm39)	M328T	possibly damaging	Het
Etv3l	T	C	3: 87,462,275 (GRCm39)		noncoding transcript	Het
Eya2	T	A	2: 165,557,931 (GRCm39)	Y176N	probably damaging	Het
Fat2	G	T	11: 55,200,865 (GRCm39)	H736Q	probably benign	Het
Fgfr2	A	T	7: 129,782,218 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,662,150 (GRCm39)		probably benign	Het
H60b	T	A	10: 22,163,130 (GRCm39)	M235K	probably benign	Het
Hal	T	A	10: 93,334,853 (GRCm39)	Y395N	probably damaging	Het
Hmcn2	T	C	2: 31,318,249 (GRCm39)	S3865P	possibly damaging	Het
Inpp5j	A	G	11: 3,451,417 (GRCm39)	V463A	probably damaging	Het
Iqgap3	A	T	3: 88,023,256 (GRCm39)	T516S	probably benign	Het
Itpr2	T	C	6: 146,133,789 (GRCm39)		probably null	Het
Jmjd4	C	A	11: 59,344,778 (GRCm39)	H244N	probably benign	Het
Klkb1	G	A	8: 45,742,233 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,496,474 (GRCm39)	Y1578F	probably damaging	Het
Lrp2	A	T	2: 69,295,971 (GRCm39)	D3379E	probably damaging	Het
Lrrfip1	C	T	1: 91,021,369 (GRCm39)		probably benign	Het
Mblac1	A	G	5: 138,192,727 (GRCm39)	Y23C	probably damaging	Het
Mfsd12	G	A	10: 81,198,648 (GRCm39)	V380I	possibly damaging	Het
Mroh9	G	A	1: 162,890,056 (GRCm39)	T227M	probably damaging	Het
Mtor	C	T	4: 148,623,338 (GRCm39)	Q2063*	probably null	Het
Ncstn	A	G	1: 171,897,528 (GRCm39)		probably benign	Het
Nek9	T	C	12: 85,348,673 (GRCm39)	T954A	probably benign	Het
Nlrc5	A	T	8: 95,201,284 (GRCm39)	Y126F	possibly damaging	Het
Nr1d1	A	G	11: 98,661,304 (GRCm39)	S321P	probably benign	Het
Or13c3	C	A	4: 52,856,196 (GRCm39)	A106S	probably damaging	Het
Pkn2	T	C	3: 142,516,588 (GRCm39)	I513V	probably damaging	Het
Pls1	T	C	9: 95,669,116 (GRCm39)	E35G	probably damaging	Het
Polr3a	A	G	14: 24,519,323 (GRCm39)		probably benign	Het
Ptgfr	A	G	3: 151,540,728 (GRCm39)	V260A	possibly damaging	Het
Rabgap1l	A	G	1: 160,454,939 (GRCm39)		probably benign	Het
Raph1	T	C	1: 60,539,764 (GRCm39)	K423E	probably benign	Het
Rbm27	A	G	18: 42,431,529 (GRCm39)	D112G	probably benign	Het
Rbm46	A	T	3: 82,771,537 (GRCm39)	S359R	probably damaging	Het
Rhobtb3	A	T	13: 76,050,364 (GRCm39)	*100R	probably null	Het
Ryr2	T	C	13: 11,610,670 (GRCm39)	E4052G	probably damaging	Het
Sart3	G	T	5: 113,893,458 (GRCm39)	D346E	possibly damaging	Het
Sgsm1	A	G	5: 113,416,616 (GRCm39)	F629S	probably damaging	Het
Siglec1	T	C	2: 130,915,317 (GRCm39)	T1425A	possibly damaging	Het
Slc12a2	A	T	18: 58,048,594 (GRCm39)		probably benign	Het
Slc38a10	G	T	11: 120,001,138 (GRCm39)	P561T	probably benign	Het
Slc45a4	A	G	15: 73,477,285 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,558,146 (GRCm39)		probably benign	Het
Son	T	A	16: 91,455,865 (GRCm39)	H1537Q	possibly damaging	Het
Synpo2l	A	T	14: 20,716,340 (GRCm39)		probably benign	Het
Tarbp1	A	G	8: 127,174,269 (GRCm39)	Y846H	probably damaging	Het
Tgfb1	T	A	7: 25,393,779 (GRCm39)		probably benign	Het
Tigd2	C	A	6: 59,188,369 (GRCm39)	T412K	possibly damaging	Het
Umodl1	A	T	17: 31,187,451 (GRCm39)	N172Y	probably damaging	Het
Urah	C	T	7: 140,416,665 (GRCm39)	T46I	probably damaging	Het
Usp8	C	T	2: 126,579,809 (GRCm39)	P353L	probably damaging	Het
Vamp2	A	G	11: 68,980,585 (GRCm39)	D51G	possibly damaging	Het
Vps13a	A	T	19: 16,653,504 (GRCm39)	V1959E	probably damaging	Het
Wdr76	C	T	2: 121,365,900 (GRCm39)		probably benign	Het
Zbtb38	C	T	9: 96,569,729 (GRCm39)	V452M	probably damaging	Het
Zbtb41	A	G	1: 139,369,572 (GRCm39)	K650E	probably damaging	Het
Zfp532	A	G	18: 65,777,404 (GRCm39)	Y887C	probably damaging	Het

Other mutations in Cfap53

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Cfap53	APN	18	74,438,611 (GRCm39)	nonsense	probably null
IGL00667:Cfap53	APN	18	74,433,263 (GRCm39)	missense	probably damaging	1.00
IGL00917:Cfap53	APN	18	74,432,367 (GRCm39)	missense	probably benign	0.08
R0009:Cfap53	UTSW	18	74,432,247 (GRCm39)	missense	probably benign	0.00
R0009:Cfap53	UTSW	18	74,432,247 (GRCm39)	missense	probably benign	0.00
R0035:Cfap53	UTSW	18	74,433,278 (GRCm39)	missense	probably damaging	1.00
R0035:Cfap53	UTSW	18	74,433,278 (GRCm39)	missense	probably damaging	1.00
R0601:Cfap53	UTSW	18	74,433,221 (GRCm39)	missense	possibly damaging	0.94
R0939:Cfap53	UTSW	18	74,438,801 (GRCm39)	missense	probably null	0.72
R1166:Cfap53	UTSW	18	74,433,251 (GRCm39)	missense	possibly damaging	0.68
R1588:Cfap53	UTSW	18	74,440,444 (GRCm39)	missense	probably benign
R2105:Cfap53	UTSW	18	74,416,294 (GRCm39)	missense	possibly damaging	0.73
R2186:Cfap53	UTSW	18	74,462,576 (GRCm39)	splice site	probably null
R3723:Cfap53	UTSW	18	74,492,640 (GRCm39)	missense	probably benign	0.13
R3724:Cfap53	UTSW	18	74,492,640 (GRCm39)	missense	probably benign	0.13
R3904:Cfap53	UTSW	18	74,440,445 (GRCm39)	missense	probably damaging	0.99
R5156:Cfap53	UTSW	18	74,492,838 (GRCm39)	utr 3 prime	probably benign
R5262:Cfap53	UTSW	18	74,462,530 (GRCm39)	missense	probably benign	0.39
R5928:Cfap53	UTSW	18	74,492,811 (GRCm39)	missense	possibly damaging	0.90
R6405:Cfap53	UTSW	18	74,492,677 (GRCm39)	missense	probably damaging	1.00
R6653:Cfap53	UTSW	18	74,433,280 (GRCm39)	missense	probably damaging	0.97
R6675:Cfap53	UTSW	18	74,440,447 (GRCm39)	critical splice donor site	probably null
R7011:Cfap53	UTSW	18	74,462,564 (GRCm39)	missense	probably benign	0.13
R7397:Cfap53	UTSW	18	74,416,294 (GRCm39)	missense	possibly damaging	0.73
R8943:Cfap53	UTSW	18	74,432,253 (GRCm39)	missense	probably damaging	0.97
R9132:Cfap53	UTSW	18	74,416,272 (GRCm39)	missense	probably damaging	0.98
R9159:Cfap53	UTSW	18	74,416,272 (GRCm39)	missense	probably damaging	0.98
R9389:Cfap53	UTSW	18	74,432,414 (GRCm39)	critical splice donor site	probably null
R9548:Cfap53	UTSW	18	74,438,040 (GRCm39)	missense	possibly damaging	0.59
R9679:Cfap53	UTSW	18	74,492,656 (GRCm39)	missense	possibly damaging	0.89
R9792:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
R9793:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
R9795:Cfap53	UTSW	18	74,438,741 (GRCm39)	missense	probably benign	0.44
Z1177:Cfap53	UTSW	18	74,438,623 (GRCm39)	nonsense	probably null

Posted On

2013-01-08