Incidental Mutation 'IGL02825:Stom'
ID 361157
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 # IGL02825
Quality Score
Status
Chromosome 2
Chromosomal Location 35203998-35226988 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35211644 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 126 (V126F)
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 damaging
Transcript: ENSMUST00000028241
AA Change: V126F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: V126F

DomainStartEndE-ValueType
PHB 52 211 1.11e-66 SMART
Blast:PHB 229 284 2e-27 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202568
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abo A G 2: 26,733,710 (GRCm39) V163A possibly damaging Het
Ap1b1 G T 11: 4,983,738 (GRCm39) A664S possibly damaging Het
B3gnt4 T C 5: 123,649,114 (GRCm39) F160L possibly damaging Het
Brd3 T C 2: 27,339,275 (GRCm39) E685G probably damaging Het
Cacna2d2 C T 9: 107,401,659 (GRCm39) R746C probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Chl1 T A 6: 103,645,764 (GRCm39) V268E possibly damaging Het
Cpb1 T A 3: 20,303,889 (GRCm39) I392F probably damaging Het
Dnai1 T C 4: 41,625,101 (GRCm39) probably benign Het
Dync2h1 T C 9: 6,955,901 (GRCm39) probably benign Het
Edc4 T C 8: 106,617,243 (GRCm39) S1021P probably damaging Het
Exoc7 A C 11: 116,188,411 (GRCm39) L296R probably damaging Het
Fgd5 A G 6: 92,015,068 (GRCm39) probably null Het
Gm28042 T A 2: 119,862,125 (GRCm39) M232K probably damaging Het
Ints1 A T 5: 139,750,494 (GRCm39) S888T probably benign Het
Kirrel1 A T 3: 86,996,595 (GRCm39) probably benign Het
Lrp1 C T 10: 127,378,474 (GRCm39) R4037Q probably damaging Het
Lrrc37 G A 11: 103,507,894 (GRCm39) probably benign Het
Lrrn3 A T 12: 41,502,592 (GRCm39) V575D probably damaging Het
Mapk11 A G 15: 89,030,585 (GRCm39) Y103H probably damaging Het
Mrpl19 G T 6: 81,942,796 (GRCm39) T38K probably benign Het
Nefl A T 14: 68,321,795 (GRCm39) K128N possibly damaging Het
Olfm1 A G 2: 28,119,090 (GRCm39) N242D probably damaging Het
Oprd1 T A 4: 131,844,670 (GRCm39) T113S probably damaging Het
Or10d1 A T 9: 39,483,877 (GRCm39) I226N probably damaging Het
Or52s19 T C 7: 103,007,568 (GRCm39) I278V probably benign Het
Pds5b C T 5: 150,652,435 (GRCm39) T234I possibly damaging Het
Prpf3 A T 3: 95,760,792 (GRCm39) C37S probably damaging Het
Rpgrip1l G A 8: 92,031,433 (GRCm39) T148M possibly damaging Het
Rph3a T C 5: 121,083,509 (GRCm39) K587R possibly damaging Het
Scn3b T C 9: 40,188,441 (GRCm39) C5R probably damaging Het
Sirpa C T 2: 129,457,372 (GRCm39) P149S probably damaging Het
Slco1a1 A T 6: 141,864,343 (GRCm39) C486S probably damaging Het
Spin1 C A 13: 51,277,332 (GRCm39) probably benign Het
Tom1 A G 8: 75,783,883 (GRCm39) D64G probably damaging Het
Trbv4 T A 6: 41,036,613 (GRCm39) L46Q probably damaging Het
Trhr A T 15: 44,092,921 (GRCm39) D386V possibly damaging Het
Vmn2r101 T A 17: 19,810,132 (GRCm39) I306N probably benign Het
Vmn2r51 C T 7: 9,832,046 (GRCm39) probably benign Het
Vmn2r63 A G 7: 42,576,274 (GRCm39) probably null Het
Zfp277 T C 12: 40,367,175 (GRCm39) K494E probably benign Het
Zranb3 A T 1: 127,887,489 (GRCm39) S979R probably benign Het
Other mutations in Stom
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Stom APN 2 35,226,889 (GRCm39) missense probably benign
IGL02103:Stom APN 2 35,210,401 (GRCm39) missense probably benign 0.23
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 2015-12-18