Incidental Mutation 'R6652:Stoml1'
ID 528098
Institutional Source Beutler Lab
Gene Symbol Stoml1
Ensembl Gene ENSMUSG00000032333
Gene Name stomatin-like 1
Synonyms WPB72, SLP-1, 1810015E19Rik, UNC-24
MMRRC Submission 044773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6652 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 58160447-58169803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58164017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 112 (D112G)
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: D112G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: D112G

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
Meta Mutation Damage Score 0.8034 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,164 (GRCm39) D605G probably damaging Het
Cfh A T 1: 140,071,806 (GRCm39) I294N probably benign Het
Clk3 A G 9: 57,669,078 (GRCm39) S49P probably damaging Het
Cmya5 A G 13: 93,229,403 (GRCm39) V1895A probably benign Het
Cmya5 T C 13: 93,229,547 (GRCm39) D1847G probably damaging Het
Cwf19l1 T C 19: 44,103,138 (GRCm39) D359G probably benign Het
Dag1 A T 9: 108,086,289 (GRCm39) M284K probably damaging Het
Ergic2 T C 6: 148,091,079 (GRCm39) Y211C probably damaging Het
Espnl A C 1: 91,272,421 (GRCm39) I594L probably benign Het
Fam193b A G 13: 55,690,603 (GRCm39) S226P probably damaging Het
Fat2 T A 11: 55,143,088 (GRCm39) I4254L probably benign Het
Fhdc1 T C 3: 84,371,631 (GRCm39) Y108C probably damaging Het
Fut9 G C 4: 25,620,619 (GRCm39) T65S probably benign Het
Gm9507 A T 10: 77,647,493 (GRCm39) probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Grap2 A T 15: 80,532,723 (GRCm39) N297Y probably damaging Het
Igfn1 A G 1: 135,891,609 (GRCm39) F2302S probably damaging Het
Ighv1-81 T A 12: 115,884,051 (GRCm39) I67F probably damaging Het
Kidins220 T A 12: 25,060,059 (GRCm39) probably null Het
Kti12 T A 4: 108,705,730 (GRCm39) S215T probably benign Het
Mc1r G A 8: 124,134,370 (GRCm39) G41D probably damaging Het
Mov10l1 A G 15: 88,878,105 (GRCm39) Y129C probably damaging Het
Mthfsd A T 8: 121,825,560 (GRCm39) L337Q probably damaging Het
Musk C T 4: 58,368,977 (GRCm39) A629V probably damaging Het
Nadsyn1 A T 7: 143,364,955 (GRCm39) M250K probably benign Het
Ncapd2 G A 6: 125,163,233 (GRCm39) H92Y probably benign Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Or6y1 G A 1: 174,276,627 (GRCm39) C146Y probably damaging Het
Plec A T 15: 76,063,974 (GRCm39) V2100E probably damaging Het
Prss37 C A 6: 40,496,090 (GRCm39) probably benign Het
Sebox A T 11: 78,394,631 (GRCm39) E32V probably damaging Het
Senp7 C A 16: 55,944,257 (GRCm39) Q194K probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Spart G A 3: 55,032,248 (GRCm39) E361K probably benign Het
Stn1 T C 19: 47,496,017 (GRCm39) T334A probably benign Het
Thap2 T A 10: 115,212,441 (GRCm39) D28V probably damaging Het
Ubap2 A T 4: 41,196,743 (GRCm39) N872K possibly damaging Het
Vezt A G 10: 93,806,141 (GRCm39) F757L probably damaging Het
Vmn1r204 T C 13: 22,740,573 (GRCm39) I68T probably damaging Het
Wnt10a A G 1: 74,842,613 (GRCm39) probably null Het
Yipf7 A G 5: 69,698,504 (GRCm39) M1T probably null Het
Zdhhc19 T C 16: 32,316,047 (GRCm39) F48S probably damaging Het
Zfp317 C T 9: 19,558,335 (GRCm39) T183I probably damaging Het
Other mutations in Stoml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01680:Stoml1 APN 9 58,163,996 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- TGGGTTGACTTCTGGCCTAC -3'
(R):5'- GCAAAATGTTACCTCCAAGAAGGC -3'

Sequencing Primer
(F):5'- CGAAGGGCATTTGACTGGC -3'
(R):5'- TGTTACCTCCAAGAAGGCAGAGC -3'
Posted On 2018-07-24