Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00667:Cfap53'

12510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cfap53

Ensembl Gene

ENSMUSG00000035394

Gene Name

cilia and flagella associated protein 53

Synonyms

4933415I03Rik, Ccdc11

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.443) question?

Stock #

IGL00667

Quality Score

Status

Chromosome

Chromosomal Location

74416171-74493055 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74433263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 116 (M116R)

Ref Sequence

ENSEMBL: ENSMUSP00000110545 (fasta)

Gene Model

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

AlphaFold

Q9D439

Predicted Effect

probably damaging
Transcript: ENSMUST00000114895
AA Change: M116R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110545
Gene: ENSMUSG00000035394
AA Change: M116R

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

Coding Region Coverage

Validation Efficiency

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	C	T	14: 68,759,387 (GRCm39)	V233I	possibly damaging	Het
Casp1	A	G	9: 5,303,756 (GRCm39)	I281V	probably benign	Het
Casp12	A	G	9: 5,352,665 (GRCm39)		probably null	Het
Cd109	T	C	9: 78,592,159 (GRCm39)	Y758H	probably damaging	Het
Cldn17	A	T	16: 88,303,045 (GRCm39)		probably benign	Het
Kmt2a	A	C	9: 44,735,683 (GRCm39)		probably benign	Het
Lca5l	A	G	16: 95,962,612 (GRCm39)	S438P	possibly damaging	Het
Ube2q2l	T	A	6: 136,377,996 (GRCm39)	D278V	possibly damaging	Het
Vps13a	T	C	19: 16,737,040 (GRCm39)	D99G	probably damaging	Het
Zfp512b	C	T	2: 181,231,526 (GRCm39)	S208N	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
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
R0048:Cfap53	UTSW	18	74,432,244 (GRCm39)	missense	probably benign	0.09
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

2012-12-06