Incidental Mutation 'IGL02652:Snrpg'
ID 302208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpg
Ensembl Gene ENSMUSG00000057278
Gene Name small nuclear ribonucleoprotein polypeptide G
Synonyms SMG
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # IGL02652
Quality Score
Status
Chromosome 6
Chromosomal Location 86348522-86355884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86353510 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 30 (I30T)
Ref Sequence ENSEMBL: ENSMUSP00000086987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089558]
AlphaFold P62309
Predicted Effect probably damaging
Transcript: ENSMUST00000089558
AA Change: I30T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086987
Gene: ENSMUSG00000057278
AA Change: I30T

DomainStartEndE-ValueType
Sm 7 72 3.7e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204216
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204768
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap28 A T 17: 68,191,795 (GRCm39) D139E probably benign Het
Asph C T 4: 9,529,984 (GRCm39) V347I probably benign Het
Ccdc138 A T 10: 58,348,901 (GRCm39) D149V probably benign Het
Cep192 A G 18: 67,991,921 (GRCm39) probably benign Het
Cnnm2 G A 19: 46,751,650 (GRCm39) R480Q probably damaging Het
Col24a1 C A 3: 145,198,056 (GRCm39) S1321* probably null Het
Cops6 T G 5: 138,159,700 (GRCm39) probably null Het
Crim1 G A 17: 78,623,106 (GRCm39) A435T probably damaging Het
Cttn G T 7: 143,995,468 (GRCm39) Q382K probably benign Het
Dhx38 A G 8: 110,282,761 (GRCm39) L635P probably damaging Het
Dmtf1 T A 5: 9,171,853 (GRCm39) T458S probably benign Het
Dnah5 T C 15: 28,366,333 (GRCm39) F2682S probably damaging Het
Dnah6 T A 6: 73,072,087 (GRCm39) Q2413L probably damaging Het
Dock10 T C 1: 80,570,561 (GRCm39) probably null Het
Engase C T 11: 118,369,776 (GRCm39) P63S probably damaging Het
Grik4 A G 9: 42,586,573 (GRCm39) V94A possibly damaging Het
Heatr6 T C 11: 83,660,558 (GRCm39) V566A probably damaging Het
Hydin A C 8: 111,316,154 (GRCm39) T4349P possibly damaging Het
Inpp4b G A 8: 82,497,429 (GRCm39) probably benign Het
Mertk A G 2: 128,643,190 (GRCm39) E863G probably benign Het
Muc19 T A 15: 91,762,009 (GRCm39) noncoding transcript Het
Myo9a T A 9: 59,771,211 (GRCm39) F928I probably damaging Het
Nyap2 T C 1: 81,219,435 (GRCm39) Y486H probably damaging Het
Oas1e T C 5: 120,933,470 (GRCm39) R32G probably damaging Het
Or14j2 A T 17: 37,885,836 (GRCm39) Y159* probably null Het
Or4k48 A G 2: 111,475,839 (GRCm39) F168L probably benign Het
Osbpl6 G A 2: 76,423,798 (GRCm39) R848Q probably damaging Het
Piezo2 G A 18: 63,157,546 (GRCm39) T2388I probably damaging Het
Prkdc A G 16: 15,600,951 (GRCm39) T2871A probably benign Het
Ptpn12 T C 5: 21,207,435 (GRCm39) K308E probably benign Het
Rgsl1 A G 1: 153,701,236 (GRCm39) L441P probably damaging Het
Rictor T C 15: 6,805,668 (GRCm39) probably null Het
Scn2a T A 2: 65,532,382 (GRCm39) S665T possibly damaging Het
Scn8a A G 15: 100,911,357 (GRCm39) I926V probably damaging Het
Spryd3 A T 15: 102,027,425 (GRCm39) probably null Het
Svil A G 18: 5,114,531 (GRCm39) D2036G probably damaging Het
Synj2 A T 17: 6,067,868 (GRCm39) I551F probably damaging Het
Tiam2 A T 17: 3,489,971 (GRCm39) probably benign Het
Tmem132b T C 5: 125,864,639 (GRCm39) F915S probably damaging Het
Try5 C A 6: 41,288,342 (GRCm39) V204L probably benign Het
Vmn2r6 T C 3: 64,463,749 (GRCm39) T362A probably benign Het
Other mutations in Snrpg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Snrpg APN 6 86,353,550 (GRCm39) missense probably damaging 0.99
R7877:Snrpg UTSW 6 86,355,761 (GRCm39) missense probably benign 0.19
R8300:Snrpg UTSW 6 86,353,558 (GRCm39) missense probably damaging 0.96
R9251:Snrpg UTSW 6 86,353,557 (GRCm39) missense probably benign 0.05
Posted On 2015-04-16