Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00532:Catsperb'

9410

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Catsperb

Ensembl Gene

ENSMUSG00000047014

Gene Name

cation channel sperm associated auxiliary subunit beta

Synonyms

4932415G16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL00532

Quality Score

Status

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101429378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 184 (V184M)

Ref Sequence

ENSEMBL: ENSMUSP00000152678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055156] [ENSMUST00000221241]

AlphaFold

A2RTF1

Predicted Effect

probably benign
Transcript: ENSMUST00000055156
AA Change: V184M

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: V184M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	73	95	N/A	INTRINSIC
Pfam:CATSPERB	569	1088	1.1e-258	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221241
AA Change: V184M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221965

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap11a	A	G	2: 113,664,411 (GRCm39)	V624A	probably benign	Het
Eprs1	G	T	1: 185,139,345 (GRCm39)	C910F	probably benign	Het
Olfm4	T	C	14: 80,258,583 (GRCm39)	V277A	probably benign	Het
Ppp4r3a	A	G	12: 101,010,912 (GRCm39)	L556P	probably damaging	Het
Samd3	A	G	10: 26,127,744 (GRCm39)	H247R	probably damaging	Het
Zfp558	A	T	9: 18,367,883 (GRCm39)	C302S	possibly damaging	Het

Other mutations in Catsperb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00580:Catsperb	APN	12	101,557,788 (GRCm39)	missense	probably benign	0.01
IGL00661:Catsperb	APN	12	101,554,357 (GRCm39)	missense	probably damaging	1.00
IGL00979:Catsperb	APN	12	101,381,584 (GRCm39)	missense	probably benign	0.34
IGL01154:Catsperb	APN	12	101,591,940 (GRCm39)	missense	possibly damaging	0.79
IGL01360:Catsperb	APN	12	101,591,513 (GRCm39)	missense	probably damaging	1.00
IGL01607:Catsperb	APN	12	101,446,985 (GRCm39)	splice site	probably benign
IGL01679:Catsperb	APN	12	101,557,841 (GRCm39)	splice site	probably null
IGL01827:Catsperb	APN	12	101,557,799 (GRCm39)	missense	probably benign	0.00
IGL01866:Catsperb	APN	12	101,475,570 (GRCm39)	nonsense	probably null
IGL02161:Catsperb	APN	12	101,375,674 (GRCm39)	splice site	probably benign
IGL02177:Catsperb	APN	12	101,507,721 (GRCm39)	missense	probably damaging	1.00
IGL02618:Catsperb	APN	12	101,446,983 (GRCm39)	splice site	probably benign
IGL02721:Catsperb	APN	12	101,591,556 (GRCm39)	missense	probably null	1.00
IGL02828:Catsperb	APN	12	101,447,041 (GRCm39)	missense	probably benign	0.00
BB001:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
BB011:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R0571:Catsperb	UTSW	12	101,569,033 (GRCm39)	missense	possibly damaging	0.72
R0727:Catsperb	UTSW	12	101,560,614 (GRCm39)	splice site	probably null
R0842:Catsperb	UTSW	12	101,429,307 (GRCm39)	missense	probably damaging	1.00
R1187:Catsperb	UTSW	12	101,591,991 (GRCm39)	missense	probably benign	0.07
R1432:Catsperb	UTSW	12	101,588,476 (GRCm39)	missense	probably damaging	1.00
R1449:Catsperb	UTSW	12	101,554,456 (GRCm39)	missense	probably benign	0.09
R1488:Catsperb	UTSW	12	101,560,526 (GRCm39)	missense	probably damaging	0.97
R1540:Catsperb	UTSW	12	101,378,589 (GRCm39)	missense	probably benign	0.02
R1560:Catsperb	UTSW	12	101,591,985 (GRCm39)	missense	probably benign	0.01
R1563:Catsperb	UTSW	12	101,554,361 (GRCm39)	missense	probably damaging	1.00
R1583:Catsperb	UTSW	12	101,429,373 (GRCm39)	missense	probably damaging	0.96
R1989:Catsperb	UTSW	12	101,568,970 (GRCm39)	missense	probably damaging	1.00
R1993:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R1995:Catsperb	UTSW	12	101,569,026 (GRCm39)	missense	possibly damaging	0.86
R2037:Catsperb	UTSW	12	101,474,221 (GRCm39)	missense	probably damaging	1.00
R2186:Catsperb	UTSW	12	101,447,041 (GRCm39)	missense	probably benign	0.00
R2217:Catsperb	UTSW	12	101,560,478 (GRCm39)	missense	probably damaging	0.99
R2391:Catsperb	UTSW	12	101,590,965 (GRCm39)	missense	probably damaging	1.00
R2679:Catsperb	UTSW	12	101,429,404 (GRCm39)	missense	probably damaging	1.00
R3848:Catsperb	UTSW	12	101,475,585 (GRCm39)	missense	probably damaging	0.98
R4023:Catsperb	UTSW	12	101,568,942 (GRCm39)	nonsense	probably null
R4507:Catsperb	UTSW	12	101,447,087 (GRCm39)	critical splice donor site	probably null
R4558:Catsperb	UTSW	12	101,557,799 (GRCm39)	missense	possibly damaging	0.94
R4649:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4651:Catsperb	UTSW	12	101,507,771 (GRCm39)	missense	probably benign	0.01
R4866:Catsperb	UTSW	12	101,474,208 (GRCm39)	missense	probably damaging	1.00
R4873:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4875:Catsperb	UTSW	12	101,554,244 (GRCm39)	missense	possibly damaging	0.90
R4897:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5002:Catsperb	UTSW	12	101,486,813 (GRCm39)	missense	probably benign
R5137:Catsperb	UTSW	12	101,516,070 (GRCm39)	missense	probably damaging	0.96
R5396:Catsperb	UTSW	12	101,560,543 (GRCm39)	missense	possibly damaging	0.90
R5450:Catsperb	UTSW	12	101,412,327 (GRCm39)	missense	possibly damaging	0.92
R5484:Catsperb	UTSW	12	101,542,175 (GRCm39)	missense	probably benign	0.38
R5846:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R5905:Catsperb	UTSW	12	101,568,959 (GRCm39)	missense	possibly damaging	0.69
R5906:Catsperb	UTSW	12	101,476,721 (GRCm39)	missense	probably damaging	1.00
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6034:Catsperb	UTSW	12	101,542,091 (GRCm39)	missense	probably benign
R6149:Catsperb	UTSW	12	101,516,098 (GRCm39)	missense	probably damaging	1.00
R6165:Catsperb	UTSW	12	101,542,075 (GRCm39)	missense	possibly damaging	0.90
R6210:Catsperb	UTSW	12	101,378,827 (GRCm39)	splice site	probably null
R6297:Catsperb	UTSW	12	101,557,655 (GRCm39)	splice site	probably null
R6302:Catsperb	UTSW	12	101,554,402 (GRCm39)	missense	possibly damaging	0.95
R6681:Catsperb	UTSW	12	101,590,994 (GRCm39)	nonsense	probably null
R6698:Catsperb	UTSW	12	101,475,466 (GRCm39)	missense	probably damaging	1.00
R6869:Catsperb	UTSW	12	101,446,996 (GRCm39)	missense	probably benign	0.09
R6948:Catsperb	UTSW	12	101,447,327 (GRCm39)	missense	probably benign	0.00
R7035:Catsperb	UTSW	12	101,381,593 (GRCm39)	missense	probably damaging	1.00
R7073:Catsperb	UTSW	12	101,475,497 (GRCm39)	missense	probably benign	0.09
R7100:Catsperb	UTSW	12	101,412,297 (GRCm39)	missense	possibly damaging	0.83
R7338:Catsperb	UTSW	12	101,447,243 (GRCm39)	missense	probably benign	0.08
R7397:Catsperb	UTSW	12	101,554,282 (GRCm39)	missense	possibly damaging	0.84
R7413:Catsperb	UTSW	12	101,447,307 (GRCm39)	missense	probably damaging	1.00
R7422:Catsperb	UTSW	12	101,554,293 (GRCm39)	missense	probably damaging	1.00
R7425:Catsperb	UTSW	12	101,557,757 (GRCm39)	missense	probably damaging	0.96
R7578:Catsperb	UTSW	12	101,554,544 (GRCm39)	missense	probably benign	0.01
R7924:Catsperb	UTSW	12	101,486,824 (GRCm39)	missense	probably benign	0.02
R8021:Catsperb	UTSW	12	101,554,322 (GRCm39)	missense	probably benign	0.22
R8060:Catsperb	UTSW	12	101,569,025 (GRCm39)	missense	probably damaging	0.98
R8167:Catsperb	UTSW	12	101,557,714 (GRCm39)	missense	probably benign	0.00
R8323:Catsperb	UTSW	12	101,375,658 (GRCm39)	missense	probably benign	0.02
R8425:Catsperb	UTSW	12	101,569,028 (GRCm39)	missense	probably benign
R8547:Catsperb	UTSW	12	101,412,305 (GRCm39)	missense	probably damaging	1.00
R8671:Catsperb	UTSW	12	101,560,596 (GRCm39)	missense	possibly damaging	0.70
R8906:Catsperb	UTSW	12	101,486,904 (GRCm39)	missense	possibly damaging	0.92
R9227:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9230:Catsperb	UTSW	12	101,516,053 (GRCm39)	missense	probably benign
R9298:Catsperb	UTSW	12	101,560,600 (GRCm39)	missense	possibly damaging	0.91
RF006:Catsperb	UTSW	12	101,542,238 (GRCm39)	critical splice donor site	probably null
Z1177:Catsperb	UTSW	12	101,412,307 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06