Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01360:Catsperb'

75701

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 #

IGL01360

Quality Score

Status

Chromosome

Chromosomal Location

101370912-101592268 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 101591513 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1032 (V1032M)

Ref Sequence

ENSEMBL: ENSMUSP00000052089 (fasta)

Gene Model

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

AlphaFold

A2RTF1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055156
AA Change: V1032M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: V1032M

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 benign
Transcript: ENSMUST00000221241

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,325,648 (GRCm39)	I1517L	possibly damaging	Het
Akap12	A	T	10: 4,307,537 (GRCm39)	D1449V	probably benign	Het
Alg6	T	A	4: 99,630,643 (GRCm39)	Y161N	probably benign	Het
Arhgap45	A	T	10: 79,864,482 (GRCm39)		probably benign	Het
Arhgap5	A	T	12: 52,565,023 (GRCm39)	I665F	probably damaging	Het
Bbs4	A	G	9: 59,247,131 (GRCm39)	V123A	possibly damaging	Het
Carm1	C	T	9: 21,498,598 (GRCm39)	T480I	probably benign	Het
Cdc42bpb	A	C	12: 111,308,509 (GRCm39)	I101S	probably damaging	Het
Copa	C	A	1: 171,915,155 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,216,547 (GRCm39)	I189V	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Egf	A	T	3: 129,533,669 (GRCm39)	F57Y	probably damaging	Het
Flt4	T	C	11: 49,534,333 (GRCm39)	I1168T	probably benign	Het
Gm14178	A	G	11: 99,638,269 (GRCm39)	S37P	unknown	Het
Gpbp1	A	T	13: 111,563,075 (GRCm39)		probably benign	Het
Herc1	T	C	9: 66,390,981 (GRCm39)	S3980P	probably benign	Het
Itga6	T	C	2: 71,617,670 (GRCm39)		probably null	Het
Itgb4	T	C	11: 115,881,766 (GRCm39)	S772P	probably damaging	Het
Kcng4	C	A	8: 120,352,416 (GRCm39)	G498V	probably benign	Het
Lrp1	T	G	10: 127,381,689 (GRCm39)	D3795A	possibly damaging	Het
Lrrk2	T	A	15: 91,584,772 (GRCm39)		probably null	Het
Mettl25	A	T	10: 105,659,058 (GRCm39)	H408Q	probably damaging	Het
Mki67	T	C	7: 135,307,505 (GRCm39)	E457G	probably damaging	Het
Mpl	G	A	4: 118,312,858 (GRCm39)	T158I	possibly damaging	Het
Mtg2	C	T	2: 179,725,870 (GRCm39)	T160I	probably damaging	Het
Mtif2	A	G	11: 29,480,110 (GRCm39)	I59V	probably benign	Het
Ncapg	C	A	5: 45,831,727 (GRCm39)	S191*	probably null	Het
Nup214	T	C	2: 31,928,190 (GRCm39)		probably benign	Het
Or9m1	T	C	2: 87,733,871 (GRCm39)	T50A	probably benign	Het
Phf3	T	A	1: 30,847,809 (GRCm39)	T1245S	probably damaging	Het
Piezo2	T	C	18: 63,250,770 (GRCm39)	D443G	probably damaging	Het
Pramel19	A	T	4: 101,797,665 (GRCm39)	D21V	possibly damaging	Het
Ptchd4	C	A	17: 42,627,936 (GRCm39)	H132Q	probably benign	Het
Pum1	T	C	4: 130,455,481 (GRCm39)		probably benign	Het
Slc30a7	A	T	3: 115,783,765 (GRCm39)	V136E	probably damaging	Het
Slc5a10	A	G	11: 61,605,962 (GRCm39)	V116A	probably damaging	Het
Sos2	A	T	12: 69,637,574 (GRCm39)	S1046T	probably benign	Het
Svep1	A	G	4: 58,116,554 (GRCm39)	S899P	possibly damaging	Het
Tfr2	G	A	5: 137,569,953 (GRCm39)	V120I	probably benign	Het
Tnfrsf18	A	T	4: 156,112,493 (GRCm39)	R117*	probably null	Het
Trmt9b	A	G	8: 36,979,713 (GRCm39)	I439V	probably benign	Het
Vmn1r77	T	G	7: 11,775,315 (GRCm39)	F30L	probably benign	Het
Vmn2r112	T	C	17: 22,837,603 (GRCm39)	M688T	probably benign	Het
Vmn2r93	T	A	17: 18,525,510 (GRCm39)	D389E	possibly damaging	Het
Zpld1	T	G	16: 55,046,748 (GRCm39)	N407T	probably benign	Het
Zranb3	C	T	1: 127,887,622 (GRCm39)	W935*	probably null	Het
Zyx	G	A	6: 42,327,378 (GRCm39)	R59Q	probably damaging	Het

Other mutations in Catsperb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00532:Catsperb	APN	12	101,429,378 (GRCm39)	missense	probably damaging	1.00
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
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

2013-10-07