Incidental Mutation 'IGL00661:Catsperb'
ID 9412
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: 0.079) question?
Stock # IGL00661
Quality Score
Status
Chromosome 12
Chromosomal Location 101370912-101592268 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101554357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 684 (T684S)
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: T684S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000052089
Gene: ENSMUSG00000047014
AA Change: T684S

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221965
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Catsperb
AlleleSourceChrCoordTypePredicted EffectPPH 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
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