Incidental Mutation 'IGL01836:Gm7247'
ID154947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm7247
Ensembl Gene ENSMUSG00000068399
Gene Namepredicted gene 7247
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.115) question?
Stock #IGL01836
Quality Score
Status
Chromosome14
Chromosomal Location51361756-51569982 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51365396 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 63 (I63K)
Ref Sequence ENSEMBL: ENSMUSP00000125409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162998]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162079
Predicted Effect probably damaging
Transcript: ENSMUST00000162998
AA Change: I63K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399
AA Change: I63K

DomainStartEndE-ValueType
Pfam:Takusan 35 115 2.2e-25 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh6a A G 3: 138,313,336 probably benign Het
Atp1a1 C T 3: 101,591,414 G188R probably damaging Het
Cadps A G 14: 12,522,311 Y618H probably damaging Het
Dot1l T C 10: 80,785,866 S451P probably benign Het
Dpysl4 G A 7: 139,096,173 V294I possibly damaging Het
Ehmt1 T A 2: 24,863,220 probably null Het
Eps8 C T 6: 137,483,541 probably null Het
Gsdme T A 6: 50,222,789 D270V probably damaging Het
Kel T A 6: 41,697,438 T353S possibly damaging Het
Krt73 T C 15: 101,795,896 H403R probably benign Het
Mrnip A G 11: 50,199,848 T280A probably benign Het
Olfr342 C T 2: 36,527,825 Q138* probably null Het
Pkdrej A G 15: 85,820,958 L259P probably damaging Het
Plod2 T C 9: 92,606,498 probably benign Het
Rad54l2 A G 9: 106,716,157 S415P probably benign Het
Rag1 A T 2: 101,641,894 F968I probably damaging Het
Rreb1 T C 13: 37,931,457 S931P probably damaging Het
Sec23a T C 12: 58,971,287 I618V probably damaging Het
Smtnl1 A T 2: 84,815,370 F386I probably damaging Het
Sppl2b C T 10: 80,861,386 T30I probably benign Het
Srf T C 17: 46,549,182 probably benign Het
Tbc1d22b A G 17: 29,599,958 T429A probably damaging Het
Tcf20 A T 15: 82,855,155 D698E probably damaging Het
Tmem106c C A 15: 97,969,686 S250R probably benign Het
Tmprss3 A G 17: 31,191,044 S199P probably benign Het
Ush2a C T 1: 188,759,863 probably benign Het
Zfp595 A G 13: 67,332,461 probably benign Het
Other mutations in Gm7247
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Gm7247 APN 14 51523505 missense possibly damaging 0.73
IGL01776:Gm7247 APN 14 51521899 missense possibly damaging 0.86
IGL02270:Gm7247 APN 14 51521884 missense probably benign 0.10
IGL02961:Gm7247 APN 14 51365355 missense probably damaging 1.00
IGL03390:Gm7247 APN 14 51523457 missense probably benign
R0054:Gm7247 UTSW 14 51569600 utr 3 prime probably benign
R0413:Gm7247 UTSW 14 51523472 missense probably benign 0.33
R1143:Gm7247 UTSW 14 51523418 missense probably benign 0.33
R2018:Gm7247 UTSW 14 51365347 missense possibly damaging 0.60
R2019:Gm7247 UTSW 14 51365347 missense possibly damaging 0.60
R2117:Gm7247 UTSW 14 51365335 missense probably damaging 0.99
R3971:Gm7247 UTSW 14 51365384 missense probably damaging 1.00
R4649:Gm7247 UTSW 14 51569594 critical splice acceptor site probably null
R5109:Gm7247 UTSW 14 51365317 missense probably damaging 0.98
R5773:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5775:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5776:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5994:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5995:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R5996:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6008:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6009:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6010:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6011:Gm7247 UTSW 14 51364348 missense probably benign 0.01
R6193:Gm7247 UTSW 14 51521842 missense possibly damaging 0.89
R6986:Gm7247 UTSW 14 51365375 missense possibly damaging 0.95
R7226:Gm7247 UTSW 14 51365351 missense probably damaging 0.97
R7331:Gm7247 UTSW 14 51364335 missense probably damaging 0.98
RF021:Gm7247 UTSW 14 51364324 small deletion probably benign
RF046:Gm7247 UTSW 14 51364324 small deletion probably benign
Posted On2014-02-04