Incidental Mutation 'IGL01318:Stom'
ID 73926
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stom
Ensembl Gene ENSMUSG00000026880
Gene Name stomatin
Synonyms Epb7.2, stomatin, protein 7.2b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01318
Quality Score
Status
Chromosome 2
Chromosomal Location 35203998-35226988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35226889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 15 (I15F)
Ref Sequence ENSEMBL: ENSMUSP00000028241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028241]
AlphaFold P54116
PDB Structure SPFH domain of mouse stomatin (Crystal form 1) [X-RAY DIFFRACTION]
SPFH domain of mouse stomatin (Crystal form 3) [X-RAY DIFFRACTION]
SPFH domain of the mouse stomatin (Crystal form 2) [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028241
AA Change: I15F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: I15F

DomainStartEndE-ValueType
PHB 52 211 1.11e-66 SMART
Blast:PHB 229 284 2e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120770
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a highly conserved family of integral membrane proteins. The encoded protein localizes to the cell membrane of red blood cells and other cell types, where it may regulate ion channels and transporters. Loss of localization of the encoded protein is associated with hereditary stomatocytosis, a form of hemolytic anemia. There is a pseudogene for this gene on chromosome 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygotes for a targeted null mutation lack the protein but appear phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgam5 A G 5: 110,413,391 (GRCm39) Y235H probably damaging Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Stom
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Stom APN 2 35,210,401 (GRCm39) missense probably benign 0.23
IGL02825:Stom APN 2 35,211,644 (GRCm39) missense probably damaging 1.00
IGL03078:Stom APN 2 35,205,941 (GRCm39) missense probably damaging 1.00
R0320:Stom UTSW 2 35,211,646 (GRCm39) missense probably damaging 1.00
R0355:Stom UTSW 2 35,215,371 (GRCm39) missense probably benign 0.22
R0417:Stom UTSW 2 35,211,644 (GRCm39) missense probably damaging 1.00
R1711:Stom UTSW 2 35,205,929 (GRCm39) missense probably damaging 1.00
R2059:Stom UTSW 2 35,206,037 (GRCm39) missense probably damaging 1.00
R2219:Stom UTSW 2 35,211,613 (GRCm39) missense possibly damaging 0.95
R2509:Stom UTSW 2 35,210,354 (GRCm39) missense probably damaging 1.00
R2516:Stom UTSW 2 35,205,977 (GRCm39) nonsense probably null
R4469:Stom UTSW 2 35,211,545 (GRCm39) missense possibly damaging 0.95
R4592:Stom UTSW 2 35,213,758 (GRCm39) missense probably damaging 1.00
R5240:Stom UTSW 2 35,226,889 (GRCm39) missense probably benign
R7338:Stom UTSW 2 35,213,760 (GRCm39) critical splice acceptor site probably null
R7532:Stom UTSW 2 35,211,589 (GRCm39) missense possibly damaging 0.91
R7652:Stom UTSW 2 35,206,041 (GRCm39) missense probably benign 0.03
R8928:Stom UTSW 2 35,205,937 (GRCm39) missense probably damaging 0.99
R9304:Stom UTSW 2 35,211,697 (GRCm39) missense possibly damaging 0.55
Posted On 2013-10-07