Incidental Mutation 'IGL03346:Gm17079'
ID 417439
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm17079
Ensembl Gene ENSMUSG00000090740
Gene Name predicted gene 17079
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock # IGL03346
Quality Score
Status
Chromosome 14
Chromosomal Location 51691019-51695468 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 51692963 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 142 (T142A)
Ref Sequence ENSEMBL: ENSMUSP00000125788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167231]
AlphaFold F7D8Y4
Predicted Effect possibly damaging
Transcript: ENSMUST00000167231
AA Change: T142A

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125788
Gene: ENSMUSG00000090740
AA Change: T142A

DomainStartEndE-ValueType
Pfam:Takusan 57 135 1.3e-24 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 C T 16: 29,314,604 V410M probably benign Het
Cdkn2aip G T 8: 47,713,618 D51E probably benign Het
Chd6 A G 2: 160,960,362 V2184A probably benign Het
Clcn1 C T 6: 42,311,219 T797I probably benign Het
Cldn23 G A 8: 35,825,440 probably benign Het
Cntnap4 A G 8: 112,773,576 D500G probably benign Het
Cog5 A T 12: 31,894,038 I641F possibly damaging Het
Cr2 A T 1: 195,169,759 V94E probably damaging Het
Creg2 T G 1: 39,650,747 D65A probably damaging Het
Dennd4a A G 9: 64,888,526 R711G possibly damaging Het
Efr3b A G 12: 3,984,648 V58A probably damaging Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Fzr1 T C 10: 81,369,184 T300A probably benign Het
Gabrg1 A T 5: 70,778,131 Y227N possibly damaging Het
Gins3 A G 8: 95,643,275 I197V probably benign Het
Gm8909 C A 17: 36,168,109 D83Y probably damaging Het
Gna15 T C 10: 81,503,045 Y320C probably damaging Het
Hibch G A 1: 52,920,380 probably benign Het
Kif5b G A 18: 6,222,767 R355W probably damaging Het
Klf1 T C 8: 84,902,932 S129P probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Nat8f5 A G 6: 85,817,658 S107P probably damaging Het
Olfr331 A G 11: 58,501,755 L267P possibly damaging Het
Olfr938 C A 9: 39,077,961 Q261H probably benign Het
Olfr938 T A 9: 39,077,962 Q261L probably damaging Het
Pcdhb18 G A 18: 37,489,621 M1I probably null Het
Plcb3 A G 19: 6,955,052 F1080L probably benign Het
Polr2g T C 19: 8,798,305 H14R probably damaging Het
Rp1l1 A G 14: 64,029,440 D825G probably benign Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Slc25a54 T C 3: 109,085,730 probably benign Het
Smad9 C A 3: 54,789,215 Q234K probably benign Het
Tie1 T C 4: 118,472,828 Y1066C probably damaging Het
Traf1 T C 2: 34,948,472 E118G probably benign Het
Ttc21b T C 2: 66,237,848 D278G possibly damaging Het
Uaca C A 9: 60,854,318 T204K probably damaging Het
Utrn A T 10: 12,525,352 Y154N probably benign Het
Virma A G 4: 11,518,984 T694A probably benign Het
Vmn2r50 T C 7: 10,046,002 D500G probably damaging Het
Vmn2r59 T A 7: 42,043,829 H449L probably benign Het
Other mutations in Gm17079
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02368:Gm17079 APN 14 51693067 missense possibly damaging 0.95
IGL03039:Gm17079 APN 14 51693061 missense probably damaging 1.00
IGL03327:Gm17079 APN 14 51692963 missense possibly damaging 0.65
R1487:Gm17079 UTSW 14 51693085 splice site probably null
R6612:Gm17079 UTSW 14 51694375 missense probably damaging 1.00
R6612:Gm17079 UTSW 14 51694376 missense possibly damaging 0.85
R7028:Gm17079 UTSW 14 51693037 missense
R8080:Gm17079 UTSW 14 51693023 missense
R8288:Gm17079 UTSW 14 51694358 missense
R8690:Gm17079 UTSW 14 51695330 missense
Posted On 2016-08-02