Incidental Mutation 'IGL01999:Cabs1'
ID182154
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabs1
Ensembl Gene ENSMUSG00000007907
Gene Namecalcium binding protein, spermatid specific 1
Synonyms4931407G18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.069) question?
Stock #IGL01999
Quality Score
Status
Chromosome5
Chromosomal Location87979439-87981544 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87979928 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 146 (T146I)
Ref Sequence ENSEMBL: ENSMUSP00000008051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008051] [ENSMUST00000187738]
Predicted Effect possibly damaging
Transcript: ENSMUST00000008051
AA Change: T146I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000008051
Gene: ENSMUSG00000007907
AA Change: T146I

DomainStartEndE-ValueType
Pfam:CABS1 1 391 6.1e-192 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190123
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028P14Rik C A 19: 23,592,165 L130F possibly damaging Het
Cfap161 C T 7: 83,791,691 V118M probably damaging Het
Chrna7 T C 7: 63,103,791 M327V probably damaging Het
Ddx18 A G 1: 121,561,728 I228T probably benign Het
Dnhd1 T A 7: 105,721,215 S4616T possibly damaging Het
Dsp T A 13: 38,181,186 M515K probably damaging Het
Dysf C T 6: 84,113,618 P1002L probably damaging Het
Exoc7 T C 11: 116,301,100 probably null Het
Gria2 G A 3: 80,732,091 R205W probably damaging Het
Hacd2 T C 16: 35,048,713 probably benign Het
Helz G T 11: 107,602,928 probably benign Het
Hgfac A G 5: 35,044,811 N352S probably benign Het
Mfsd11 T A 11: 116,861,585 F135I probably damaging Het
Mtmr10 A G 7: 64,337,712 N667D probably benign Het
Mtmr9 A C 14: 63,542,454 F62C probably damaging Het
Nelfcd T C 2: 174,423,515 probably benign Het
Nfasc A G 1: 132,605,247 probably benign Het
Npnt C T 3: 132,908,399 R150Q probably damaging Het
Olfr1462 G A 19: 13,191,560 A298T probably damaging Het
Olfr476 C T 7: 107,967,468 R24C probably benign Het
Olfr524 C T 7: 140,202,432 E113K probably damaging Het
Pcdhb2 C T 18: 37,296,837 A621V probably damaging Het
Pkd1l1 C A 11: 8,836,291 W1921L probably benign Het
Plcb1 G A 2: 135,346,318 R777Q probably damaging Het
Plch1 G A 3: 63,753,307 P297L probably damaging Het
Ppp2r2b T C 18: 42,645,723 probably benign Het
Ppp6r2 A G 15: 89,269,952 D372G probably benign Het
Rtn4r A G 16: 18,151,457 R250G possibly damaging Het
Sec61a2 A G 2: 5,891,363 probably benign Het
Sema3g G T 14: 31,217,965 V19L probably benign Het
Sult2a7 T C 7: 14,491,723 T113A probably benign Het
Tcp11l1 T C 2: 104,698,569 D128G possibly damaging Het
Tln2 C T 9: 67,392,505 R155Q possibly damaging Het
Vcan A G 13: 89,684,438 L2150P probably damaging Het
Vmn1r40 A C 6: 89,714,966 N255T probably benign Het
Vmn2r68 T C 7: 85,222,231 N615D probably damaging Het
Zdhhc25 A G 15: 88,601,014 E184G probably damaging Het
Other mutations in Cabs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Cabs1 APN 5 87980010 missense possibly damaging 0.64
IGL02174:Cabs1 APN 5 87980480 missense probably benign
IGL02930:Cabs1 APN 5 87979886 missense probably damaging 0.99
R0126:Cabs1 UTSW 5 87980195 missense probably damaging 1.00
R1590:Cabs1 UTSW 5 87979631 missense probably damaging 0.99
R1893:Cabs1 UTSW 5 87980035 missense probably benign 0.00
R2257:Cabs1 UTSW 5 87980215 missense probably damaging 0.99
R2364:Cabs1 UTSW 5 87980233 missense probably benign 0.00
R4078:Cabs1 UTSW 5 87980302 missense probably damaging 0.99
R4914:Cabs1 UTSW 5 87980437 missense probably damaging 1.00
R5318:Cabs1 UTSW 5 87980566 missense possibly damaging 0.95
R5356:Cabs1 UTSW 5 87979633 missense probably benign
R6152:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6154:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6159:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6169:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6177:Cabs1 UTSW 5 87979754 missense possibly damaging 0.95
R6505:Cabs1 UTSW 5 87980663 missense possibly damaging 0.85
R7726:Cabs1 UTSW 5 87980286 missense probably damaging 0.98
Posted On2014-05-07