Incidental Mutation 'IGL03078:Stom'
| ID |
417763 |
| 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)
|
| Stock # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
35203998-35226988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35205941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 263
(K263E)
|
| 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: K263E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028241
Gene: ENSMUSG00000026880
AA Change: K263E
| Domain | Start | End | E-Value | Type |
|---|
|
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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
| Rspo3 |
T |
C |
10: 29,380,657 (GRCm39) |
Y119C |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
| Other mutations in Stom |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02825:Stom
|
APN |
2 |
35,211,644 (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 |
2016-08-02 |
Incidental Mutation