Incidental Mutation 'IGL03195:Gm595'
ID412775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm595
Ensembl Gene ENSMUSG00000079606
Gene Namepredicted gene 595
SynonymsLOC209005
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL03195
Quality Score
Status
ChromosomeX
Chromosomal Location48841466-48877713 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 48872948 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 296 (Q296L)
Ref Sequence ENSEMBL: ENSMUSP00000110578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114928]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114928
AA Change: Q296L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110578
Gene: ENSMUSG00000079606
AA Change: Q296L

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
low complexity region 110 120 N/A INTRINSIC
coiled coil region 150 183 N/A INTRINSIC
low complexity region 308 329 N/A INTRINSIC
internal_repeat_1 335 462 1.55e-9 PROSPERO
internal_repeat_1 478 616 1.55e-9 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,853,607 D1086G possibly damaging Het
Ahcyl2 T C 6: 29,906,769 probably benign Het
Ankrd42 T A 7: 92,591,858 Q431L probably benign Het
Arhgap12 A T 18: 6,031,766 F592I probably damaging Het
Arhgef28 A G 13: 97,951,563 probably null Het
Boc A G 16: 44,492,821 F560S probably damaging Het
Ccdc81 A T 7: 89,896,708 V96E probably benign Het
Cep162 C T 9: 87,225,786 S517N probably benign Het
Cntnap5a A G 1: 116,157,448 N372S probably benign Het
Dnah7a G A 1: 53,419,607 R3791C probably damaging Het
Fdxr T C 11: 115,276,092 Q57R probably benign Het
G3bp2 A G 5: 92,068,508 probably benign Het
Hmcn1 G A 1: 150,802,909 T487I probably benign Het
Kpna7 A T 5: 144,997,037 I282N probably damaging Het
Lif A T 11: 4,269,201 Y160F probably damaging Het
Lrp1b A T 2: 41,471,122 D556E possibly damaging Het
Myom2 G T 8: 15,111,844 E954* probably null Het
Nr6a1 A T 2: 38,742,936 I171N probably damaging Het
Nup210 C A 6: 91,015,850 R1059L probably benign Het
Olfr1109 A T 2: 87,092,569 V276E probably damaging Het
Olfr225 G A 11: 59,613,803 V280M probably damaging Het
Olfr698 A G 7: 106,752,773 I205T probably benign Het
Olfr743 A G 14: 50,533,420 T3A probably benign Het
Olfr987 A T 2: 85,331,520 I126N probably damaging Het
Ostm1 T C 10: 42,698,217 V302A probably damaging Het
Oxct1 A G 15: 4,101,189 M388V possibly damaging Het
Ppp6r2 G A 15: 89,268,555 V300I possibly damaging Het
Prmt1 T C 7: 44,977,571 Y205C probably damaging Het
Slc45a4 A C 15: 73,584,423 V636G possibly damaging Het
Spata18 T A 5: 73,671,248 L270Q probably damaging Het
Stard9 G A 2: 120,705,802 D4151N probably damaging Het
Thsd7b G A 1: 129,628,909 C334Y probably damaging Het
Tmtc3 C T 10: 100,459,034 V406M probably benign Het
Trpc5 T A X: 144,382,728 M900L probably benign Het
Ttc9c T C 19: 8,815,980 K99E probably benign Het
Vmn1r73 A G 7: 11,757,080 E275G probably damaging Het
Other mutations in Gm595
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3903:Gm595 UTSW X 48841544 missense possibly damaging 0.66
R3904:Gm595 UTSW X 48841544 missense possibly damaging 0.66
Posted On2016-08-02