Incidental Mutation 'IGL02687:Gm7995'
ID303593
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm7995
Ensembl Gene ENSMUSG00000094157
Gene Namepredicted gene 7995
SynonymsGm3586
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02687
Quality Score
Status
Chromosome14
Chromosomal Location42310210-42325394 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 42311405 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 81 (I81V)
Ref Sequence ENSEMBL: ENSMUSP00000087222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089789]
Predicted Effect probably damaging
Transcript: ENSMUST00000089789
AA Change: I81V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087222
Gene: ENSMUSG00000094157
AA Change: I81V

DomainStartEndE-ValueType
Pfam:Takusan 3 86 2.4e-35 PFAM
coiled coil region 101 134 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000171967
AA Change: I80V
SMART Domains Protein: ENSMUSP00000132956
Gene: ENSMUSG00000094157
AA Change: I80V

DomainStartEndE-ValueType
Pfam:Takusan 5 85 2.5e-27 PFAM
coiled coil region 100 133 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,114,232 V1315A probably damaging Het
Adam2 A T 14: 66,069,190 C117S probably damaging Het
Arpp21 T A 9: 112,065,815 R792* probably null Het
Atp13a3 A G 16: 30,337,551 M938T probably damaging Het
Atp6v0a2 C T 5: 124,714,142 T545M possibly damaging Het
BC051019 T C 7: 109,716,352 D84G possibly damaging Het
Bdkrb1 T A 12: 105,604,832 L219H probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap46 T C 7: 139,607,201 D2415G probably damaging Het
Csgalnact2 T C 6: 118,124,415 probably null Het
Cyp4a29 T C 4: 115,251,200 C374R probably damaging Het
Dgkb C A 12: 38,630,629 P776Q possibly damaging Het
Duox1 A T 2: 122,336,415 K1005M probably damaging Het
Dusp6 C A 10: 99,266,182 F343L probably damaging Het
Espl1 C T 15: 102,313,178 probably benign Het
Filip1l T C 16: 57,571,127 S455P probably benign Het
Lingo4 T C 3: 94,402,097 L114P probably damaging Het
Mfsd6 A G 1: 52,708,675 S344P probably damaging Het
Mpc1 G A 17: 8,297,143 S162N probably benign Het
Myh11 T A 16: 14,212,618 K1143* probably null Het
Nek10 T C 14: 14,840,570 L152P probably damaging Het
Olfr598 C T 7: 103,329,400 R305* probably null Het
Olfr815 T C 10: 129,902,102 M203V probably benign Het
Olfr995 T A 2: 85,438,586 N191Y possibly damaging Het
Rab11a A G 9: 64,726,698 I119T probably damaging Het
Spata31d1d T A 13: 59,727,864 H619L possibly damaging Het
Ulk4 A T 9: 121,192,662 V661E possibly damaging Het
Vmn1r199 T C 13: 22,382,791 V85A possibly damaging Het
Other mutations in Gm7995
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4883:Gm7995 UTSW 14 42311426 missense probably damaging 1.00
R5273:Gm7995 UTSW 14 42311456 missense probably damaging 1.00
R6490:Gm7995 UTSW 14 42311370 missense probably benign 0.39
R7448:Gm7995 UTSW 14 42310345 missense
R7505:Gm7995 UTSW 14 42310357 missense
R7647:Gm7995 UTSW 14 42311351 missense possibly damaging 0.89
Posted On2015-04-16