Incidental Mutation 'IGL02693:Stoml1'
| ID |
303838 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stoml1
|
| Ensembl Gene |
ENSMUSG00000032333 |
| Gene Name |
stomatin-like 1 |
| Synonyms |
WPB72, SLP-1, 1810015E19Rik, UNC-24 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58160447-58169803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58164359 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 149
(I149N)
|
| 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: I149N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: I149N
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
A |
G |
1: 11,666,506 (GRCm39) |
D271G |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,540,077 (GRCm39) |
V1478E |
possibly damaging |
Het |
| Ckap5 |
C |
T |
2: 91,400,556 (GRCm39) |
P636L |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,500,113 (GRCm39) |
V127A |
probably damaging |
Het |
| Cs |
A |
G |
10: 128,185,678 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,113,775 (GRCm39) |
E170K |
probably benign |
Het |
| Gm5866 |
A |
T |
5: 52,740,558 (GRCm39) |
|
noncoding transcript |
Het |
| Lpin3 |
T |
C |
2: 160,746,975 (GRCm39) |
V794A |
probably damaging |
Het |
| Ly86 |
T |
G |
13: 37,559,005 (GRCm39) |
I68S |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,172 (GRCm39) |
I11V |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,538 (GRCm39) |
S122P |
probably damaging |
Het |
| Olfm1 |
A |
G |
2: 28,102,662 (GRCm39) |
E112G |
probably damaging |
Het |
| Or5w20 |
T |
G |
2: 87,726,877 (GRCm39) |
C111W |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,777,340 (GRCm39) |
E428G |
probably benign |
Het |
| Phkb |
T |
G |
8: 86,668,863 (GRCm39) |
F297V |
probably damaging |
Het |
| Pianp |
T |
G |
6: 124,978,598 (GRCm39) |
F268V |
possibly damaging |
Het |
| Polr1a |
T |
C |
6: 71,940,830 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,101,855 (GRCm39) |
G2453E |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,643,699 (GRCm39) |
N350D |
probably damaging |
Het |
| Rbm12 |
C |
T |
2: 155,937,480 (GRCm39) |
|
probably benign |
Het |
| Rfc4 |
A |
G |
16: 22,932,960 (GRCm39) |
S326P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc35f1 |
A |
T |
10: 52,809,224 (GRCm39) |
L70F |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,583,947 (GRCm39) |
T448A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,092 (GRCm39) |
I3973V |
probably benign |
Het |
| Spmip9 |
C |
A |
6: 70,890,488 (GRCm39) |
R101S |
possibly damaging |
Het |
| Sytl1 |
A |
T |
4: 132,985,057 (GRCm39) |
C180S |
probably benign |
Het |
| Traf6 |
T |
C |
2: 101,518,850 (GRCm39) |
L113P |
possibly damaging |
Het |
| Trappc9 |
A |
G |
15: 72,835,542 (GRCm39) |
|
probably benign |
Het |
| Tubg2 |
T |
C |
11: 101,051,725 (GRCm39) |
Y317H |
probably damaging |
Het |
| Zfp334 |
T |
C |
2: 165,222,433 (GRCm39) |
T537A |
possibly damaging |
Het |
|
| Other mutations in Stoml1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01680:Stoml1
|
APN |
9 |
58,163,996 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
R6652:Stoml1
|
UTSW |
9 |
58,164,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation