Incidental Mutation 'IGL02286:Gm12790'
ID 289983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm12790
Ensembl Gene ENSMUSG00000078626
Gene Name predicted gene 12790
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # IGL02286
Quality Score
Status
Chromosome 4
Chromosomal Location 101823444-101832302 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101824918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 117 (T117A)
Ref Sequence ENSEMBL: ENSMUSP00000102529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106916]
AlphaFold B1AUV6
Predicted Effect probably benign
Transcript: ENSMUST00000106916
AA Change: T117A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102529
Gene: ENSMUSG00000078626
AA Change: T117A

DomainStartEndE-ValueType
low complexity region 131 136 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Dab1 A G 4: 104,537,267 (GRCm39) T187A probably damaging Het
Eno2 C T 6: 124,743,543 (GRCm39) R132H probably damaging Het
Fgb T G 3: 82,950,633 (GRCm39) M374L probably benign Het
Fgf21 T C 7: 45,264,561 (GRCm39) D57G possibly damaging Het
Gcgr A G 11: 120,428,757 (GRCm39) T354A probably damaging Het
Myo18a C T 11: 77,668,811 (GRCm39) Q224* probably null Het
N4bp2 A G 5: 65,960,895 (GRCm39) Y522C probably damaging Het
Nt5dc3 G A 10: 86,656,644 (GRCm39) probably benign Het
Or12e13 G A 2: 87,663,592 (GRCm39) A70T probably damaging Het
Ppp1r3b C T 8: 35,851,515 (GRCm39) A118V probably benign Het
Slc37a2 C T 9: 37,146,455 (GRCm39) A351T probably damaging Het
Tlr11 T C 14: 50,598,328 (GRCm39) F105L possibly damaging Het
Vwa8 G A 14: 79,184,713 (GRCm39) probably null Het
Xrra1 A T 7: 99,563,434 (GRCm39) I474F possibly damaging Het
Zfp790 A G 7: 29,529,160 (GRCm39) K615R possibly damaging Het
Other mutations in Gm12790
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0184:Gm12790 UTSW 4 101,824,811 (GRCm39) nonsense probably null
R0217:Gm12790 UTSW 4 101,825,231 (GRCm39) missense probably damaging 1.00
R1401:Gm12790 UTSW 4 101,825,396 (GRCm39) missense probably benign 0.01
R1708:Gm12790 UTSW 4 101,825,174 (GRCm39) missense possibly damaging 0.83
R2116:Gm12790 UTSW 4 101,824,848 (GRCm39) missense possibly damaging 0.83
R4441:Gm12790 UTSW 4 101,825,337 (GRCm39) missense probably damaging 0.98
R4575:Gm12790 UTSW 4 101,825,324 (GRCm39) missense probably benign 0.17
R4578:Gm12790 UTSW 4 101,825,324 (GRCm39) missense probably benign 0.17
R5148:Gm12790 UTSW 4 101,825,268 (GRCm39) missense possibly damaging 0.57
R5519:Gm12790 UTSW 4 101,824,888 (GRCm39) missense probably benign 0.03
R6282:Gm12790 UTSW 4 101,824,713 (GRCm39) missense possibly damaging 0.73
R8230:Gm12790 UTSW 4 101,825,280 (GRCm39) missense probably benign 0.19
R9274:Gm12790 UTSW 4 101,824,743 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16