Incidental Mutation 'IGL01680:Stoml1'
ID 103753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stoml1
Ensembl Gene ENSMUSG00000032333
Gene Name stomatin-like 1
Synonyms WPB72, SLP-1, 1810015E19Rik, UNC-24
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01680
Quality Score
Status
Chromosome 9
Chromosomal Location 58160447-58169803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58163996 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 105 (V105A)
Ref Sequence ENSEMBL: ENSMUSP00000034883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034883] [ENSMUST00000215488] [ENSMUST00000216864] [ENSMUST00000216877] [ENSMUST00000217165]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034883
AA Change: V105A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: V105A

DomainStartEndE-ValueType
low complexity region 57 69 N/A INTRINSIC
PHB 77 237 7.08e-42 SMART
Pfam:SCP2 292 396 7.2e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215079
Predicted Effect probably benign
Transcript: ENSMUST00000215488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216187
Predicted Effect probably benign
Transcript: ENSMUST00000216864
Predicted Effect probably benign
Transcript: ENSMUST00000216877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217026
Predicted Effect probably benign
Transcript: ENSMUST00000217165
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele are viable and free of overt neurological phenotypes but show a mild, but specific, disinhibition of certain proton-gated currents in dorsal root ganglia neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,709,620 (GRCm39) W121R unknown Het
Adprh C T 16: 38,270,578 (GRCm39) G76S possibly damaging Het
Arhgap31 T C 16: 38,423,976 (GRCm39) T697A probably benign Het
Ces2f T C 8: 105,680,705 (GRCm39) M489T probably benign Het
Clec5a A G 6: 40,561,314 (GRCm39) Y44H probably benign Het
Csmd3 T C 15: 47,833,426 (GRCm39) H950R probably damaging Het
Dennd10 A G 19: 60,805,972 (GRCm39) T86A possibly damaging Het
Dgkz G T 2: 91,766,210 (GRCm39) P784T probably benign Het
Dok1 T C 6: 83,008,293 (GRCm39) D463G possibly damaging Het
Eif4a2 C A 16: 22,927,941 (GRCm39) Q94K probably benign Het
Epg5 T C 18: 78,055,956 (GRCm39) L1710P probably damaging Het
Fign A G 2: 63,808,988 (GRCm39) probably benign Het
Gbp10 T C 5: 105,372,137 (GRCm39) probably null Het
Gga2 G T 7: 121,597,299 (GRCm39) D363E probably benign Het
Glis2 T A 16: 4,429,195 (GRCm39) F133I possibly damaging Het
Isg20 A G 7: 78,566,333 (GRCm39) D94G probably damaging Het
Kif23 T C 9: 61,839,096 (GRCm39) D319G probably benign Het
Lbr C A 1: 181,663,759 (GRCm39) R87L probably damaging Het
Map3k9 T C 12: 81,771,513 (GRCm39) T715A probably benign Het
Mapk14 T C 17: 28,944,820 (GRCm39) probably null Het
Mpp4 A C 1: 59,169,226 (GRCm39) C341W probably benign Het
Mroh9 C T 1: 162,875,551 (GRCm39) probably null Het
Myo16 T C 8: 10,322,630 (GRCm39) V20A probably damaging Het
Or12e8 T C 2: 87,188,249 (GRCm39) S154P probably damaging Het
Or52p2 A T 7: 102,237,436 (GRCm39) C171* probably null Het
Or7c19 A T 8: 85,957,308 (GRCm39) L61F probably benign Het
Pofut2 C T 10: 77,099,127 (GRCm39) R186W probably damaging Het
Ppp1r1b T A 11: 98,241,392 (GRCm39) probably null Het
Slc34a2 A G 5: 53,218,218 (GRCm39) I166V probably damaging Het
Slc4a2 A G 5: 24,637,928 (GRCm39) T375A probably benign Het
Slitrk5 C A 14: 111,916,432 (GRCm39) H19N probably benign Het
Sptb T A 12: 76,677,456 (GRCm39) Q126L probably damaging Het
Stt3b C A 9: 115,075,329 (GRCm39) probably benign Het
Thbs4 T C 13: 92,913,488 (GRCm39) E144G probably benign Het
Tns3 A G 11: 8,498,937 (GRCm39) Y49H probably damaging Het
Vmn2r87 C T 10: 130,315,586 (GRCm39) W160* probably null Het
Zfp647 T A 15: 76,801,968 (GRCm39) probably benign Het
Other mutations in Stoml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02693:Stoml1 APN 9 58,164,359 (GRCm39) missense probably damaging 0.99
IGL03180:Stoml1 APN 9 58,168,200 (GRCm39) missense probably damaging 1.00
R1464:Stoml1 UTSW 9 58,167,709 (GRCm39) unclassified probably benign
R5632:Stoml1 UTSW 9 58,160,653 (GRCm39) missense probably damaging 1.00
R5836:Stoml1 UTSW 9 58,168,123 (GRCm39) missense probably benign
R6558:Stoml1 UTSW 9 58,163,951 (GRCm39) missense probably damaging 1.00
R6652:Stoml1 UTSW 9 58,164,017 (GRCm39) missense probably damaging 0.99
R6881:Stoml1 UTSW 9 58,168,177 (GRCm39) missense probably damaging 1.00
R7006:Stoml1 UTSW 9 58,167,523 (GRCm39) missense probably damaging 0.96
R7607:Stoml1 UTSW 9 58,163,941 (GRCm39) missense probably damaging 1.00
R9136:Stoml1 UTSW 9 58,168,236 (GRCm39) missense possibly damaging 0.83
R9156:Stoml1 UTSW 9 58,164,409 (GRCm39) missense
R9471:Stoml1 UTSW 9 58,163,968 (GRCm39) missense probably damaging 1.00
X0020:Stoml1 UTSW 9 58,168,084 (GRCm39) missense probably benign 0.08
X0058:Stoml1 UTSW 9 58,164,449 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21