Incidental Mutation 'IGL02103:Stom'
ID279840
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stom
Ensembl Gene ENSMUSG00000026880
Gene Namestomatin
Synonymsstomatin, Epb7.2, protein 7.2b
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02103
Quality Score
Status
Chromosome2
Chromosomal Location35313986-35336976 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35320389 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 201 (V201E)
Ref Sequence ENSEMBL: ENSMUSP00000028241 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028241]
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: V201E

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: V201E

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 G A 12: 84,612,364 T206M probably benign Het
Adcy3 T A 12: 4,134,390 V22D possibly damaging Het
Alb G A 5: 90,464,131 E140K probably benign Het
Aph1a G A 3: 95,895,813 V193I probably damaging Het
Asb2 G A 12: 103,333,496 R178* probably null Het
Celf3 A T 3: 94,486,801 Q137L probably damaging Het
Cmya5 T C 13: 93,092,127 D2151G probably benign Het
Cuedc1 T A 11: 88,188,799 S353T probably damaging Het
Dlg5 A C 14: 24,144,346 L1709R probably damaging Het
Dst T C 1: 34,190,118 I1939T possibly damaging Het
Emx2 A T 19: 59,461,698 N149I probably benign Het
Fancm A G 12: 65,095,784 D472G probably benign Het
Fasn T C 11: 120,811,936 Y1700C probably damaging Het
Fat2 T A 11: 55,289,296 R1406S probably damaging Het
Fat4 C A 3: 38,889,199 T747K probably damaging Het
Fer A G 17: 64,138,928 M795V probably benign Het
Gm5916 A G 9: 36,128,674 L6P probably damaging Het
Gpr139 A G 7: 119,145,132 F77L possibly damaging Het
Kcnu1 T C 8: 25,905,948 S654P possibly damaging Het
Kdm5c T A X: 152,248,766 F408L probably damaging Het
Kel A G 6: 41,702,389 S147P probably benign Het
Klra5 A T 6: 129,911,344 probably null Het
Mastl A G 2: 23,139,998 S239P probably benign Het
Med18 A T 4: 132,459,666 V174D probably damaging Het
Mgat4a A T 1: 37,462,926 M247K possibly damaging Het
Mx2 A C 16: 97,544,595 D71A probably damaging Het
Nxt1 G T 2: 148,675,644 E102* probably null Het
Olfr125 A G 17: 37,835,278 Q93R possibly damaging Het
Olfr410 A G 11: 74,335,036 F65S probably damaging Het
Olfr828 T C 9: 18,815,709 N195S probably damaging Het
Pcdhb16 T A 18: 37,480,108 V707E probably benign Het
Pdzrn4 T A 15: 92,769,887 V640E probably damaging Het
Piwil4 T C 9: 14,725,986 probably null Het
Pla2g4a A T 1: 149,901,199 D55E probably damaging Het
Plekhg2 C A 7: 28,360,076 R1276L probably damaging Het
Psd4 G A 2: 24,400,528 W539* probably null Het
Rae1 G A 2: 173,003,513 E33K probably damaging Het
Rbm12b1 T A 4: 12,145,563 F512I probably damaging Het
Rfx6 A G 10: 51,726,856 D823G possibly damaging Het
Samt3 A T X: 86,047,153 Q217L probably damaging Het
Selenbp2 A G 3: 94,698,131 N134S probably null Het
Selenoo T C 15: 89,099,970 V663A probably damaging Het
Sp4 G T 12: 118,299,549 T254N probably damaging Het
Spdya A G 17: 71,578,247 K232R probably benign Het
Sycp3 A G 10: 88,466,472 K108R possibly damaging Het
Usp2 A G 9: 44,089,128 probably benign Het
Vmn1r226 T C 17: 20,687,664 S53P probably damaging Het
Vmn2r14 C T 5: 109,224,483 G47D probably damaging Het
Vwf T G 6: 125,646,355 L1805W probably damaging Het
Washc3 A T 10: 88,201,825 Q22L probably damaging Het
Wdr81 T A 11: 75,444,720 D1761V probably damaging Het
Other mutations in Stom
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01318:Stom APN 2 35336877 missense probably benign
IGL02825:Stom APN 2 35321632 missense probably damaging 1.00
IGL03078:Stom APN 2 35315929 missense probably damaging 1.00
R0320:Stom UTSW 2 35321634 missense probably damaging 1.00
R0355:Stom UTSW 2 35325359 missense probably benign 0.22
R0417:Stom UTSW 2 35321632 missense probably damaging 1.00
R1711:Stom UTSW 2 35315917 missense probably damaging 1.00
R2059:Stom UTSW 2 35316025 missense probably damaging 1.00
R2219:Stom UTSW 2 35321601 missense possibly damaging 0.95
R2509:Stom UTSW 2 35320342 missense probably damaging 1.00
R2516:Stom UTSW 2 35315965 nonsense probably null
R4469:Stom UTSW 2 35321533 missense possibly damaging 0.95
R4592:Stom UTSW 2 35323746 missense probably damaging 1.00
R5240:Stom UTSW 2 35336877 missense probably benign
Posted On2015-04-16