Incidental Mutation 'IGL02652:Snrpg'
ID302208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Snrpg
Ensembl Gene ENSMUSG00000057278
Gene Namesmall nuclear ribonucleoprotein polypeptide G
SynonymsSMG
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02652
Quality Score
Status
Chromosome6
Chromosomal Location86371304-86379328 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 86376528 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 30 (I30T)
Ref Sequence ENSEMBL: ENSMUSP00000086987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089558]
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: 67,884,800 D139E probably benign Het
Asph C T 4: 9,529,984 V347I probably benign Het
Ccdc138 A T 10: 58,513,079 D149V probably benign Het
Cep192 A G 18: 67,858,850 probably benign Het
Cnnm2 G A 19: 46,763,211 R480Q probably damaging Het
Col24a1 C A 3: 145,492,301 S1321* probably null Het
Cops6 T G 5: 138,161,438 probably null Het
Crim1 G A 17: 78,315,677 A435T probably damaging Het
Cttn G T 7: 144,441,731 Q382K probably benign Het
Dhx38 A G 8: 109,556,129 L635P probably damaging Het
Dmtf1 T A 5: 9,121,853 T458S probably benign Het
Dnah5 T C 15: 28,366,187 F2682S probably damaging Het
Dnah6 T A 6: 73,095,104 Q2413L probably damaging Het
Dock10 T C 1: 80,592,844 probably null Het
Engase C T 11: 118,478,950 P63S probably damaging Het
Grik4 A G 9: 42,675,277 V94A possibly damaging Het
Heatr6 T C 11: 83,769,732 V566A probably damaging Het
Hydin A C 8: 110,589,522 T4349P possibly damaging Het
Inpp4b G A 8: 81,770,800 probably benign Het
Mertk A G 2: 128,801,270 E863G probably benign Het
Muc19 T A 15: 91,877,815 noncoding transcript Het
Myo9a T A 9: 59,863,928 F928I probably damaging Het
Nyap2 T C 1: 81,241,720 Y486H probably damaging Het
Oas1e T C 5: 120,795,405 R32G probably damaging Het
Olfr113 A T 17: 37,574,945 Y159* probably null Het
Olfr1298 A G 2: 111,645,494 F168L probably benign Het
Osbpl6 G A 2: 76,593,454 R848Q probably damaging Het
Piezo2 G A 18: 63,024,475 T2388I probably damaging Het
Prkdc A G 16: 15,783,087 T2871A probably benign Het
Ptpn12 T C 5: 21,002,437 K308E probably benign Het
Rgsl1 A G 1: 153,825,490 L441P probably damaging Het
Rictor T C 15: 6,776,187 probably null Het
Scn2a T A 2: 65,702,038 S665T possibly damaging Het
Scn8a A G 15: 101,013,476 I926V probably damaging Het
Spryd3 A T 15: 102,118,990 probably null Het
Svil A G 18: 5,114,531 D2036G probably damaging Het
Synj2 A T 17: 6,017,593 I551F probably damaging Het
Tiam2 A T 17: 3,439,696 probably benign Het
Tmem132b T C 5: 125,787,575 F915S probably damaging Het
Try5 C A 6: 41,311,408 V204L probably benign Het
Vmn2r6 T C 3: 64,556,328 T362A probably benign Het
Other mutations in Snrpg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02608:Snrpg APN 6 86376568 missense probably damaging 0.99
R7877:Snrpg UTSW 6 86378779 missense probably benign 0.19
R7960:Snrpg UTSW 6 86378779 missense probably benign 0.19
Posted On2015-04-16