Incidental Mutation 'R5836:Stoml1'
ID |
449599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stoml1
|
Ensembl Gene |
ENSMUSG00000032333 |
Gene Name |
stomatin-like 1 |
Synonyms |
WPB72, SLP-1, 1810015E19Rik, UNC-24 |
MMRRC Submission |
043222-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5836 (G1)
|
Quality Score |
169 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
58160447-58169803 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58168123 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 278
(L278P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034883
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034883]
[ENSMUST00000216864]
[ENSMUST00000216877]
[ENSMUST00000217165]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034883
AA Change: L278P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034883 Gene: ENSMUSG00000032333 AA Change: L278P
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 |
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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
T |
17: 36,272,918 (GRCm39) |
A243D |
possibly damaging |
Het |
Azin2 |
C |
T |
4: 128,842,670 (GRCm39) |
G128D |
probably damaging |
Het |
Babam1 |
A |
G |
8: 71,855,687 (GRCm39) |
E260G |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,865,958 (GRCm39) |
S275T |
probably damaging |
Het |
Cd8a |
T |
C |
6: 71,350,775 (GRCm39) |
V80A |
possibly damaging |
Het |
Clec4a3 |
T |
C |
6: 122,929,861 (GRCm39) |
F12S |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,140,552 (GRCm39) |
S225T |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,383,738 (GRCm39) |
N2987H |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,918,763 (GRCm39) |
F78S |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,918,659 (GRCm39) |
T885A |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,662,817 (GRCm39) |
V145A |
probably benign |
Het |
Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,229,882 (GRCm39) |
S758G |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,423,617 (GRCm39) |
L538Q |
probably damaging |
Het |
Ikzf2 |
A |
G |
1: 69,578,546 (GRCm39) |
I176T |
probably damaging |
Het |
Lrp3 |
A |
G |
7: 34,902,747 (GRCm39) |
V533A |
probably damaging |
Het |
Nkx2-5 |
A |
T |
17: 27,058,063 (GRCm39) |
V297E |
possibly damaging |
Het |
Or13a19 |
G |
A |
7: 139,902,827 (GRCm39) |
V72I |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,353 (GRCm39) |
L225P |
probably damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,918 (GRCm39) |
T15A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,324,435 (GRCm39) |
W97R |
possibly damaging |
Het |
Plekha5 |
T |
C |
6: 140,372,250 (GRCm39) |
Y67H |
probably damaging |
Het |
Plin5 |
A |
T |
17: 56,422,549 (GRCm39) |
|
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Prickle1 |
T |
A |
15: 93,400,898 (GRCm39) |
K529* |
probably null |
Het |
Ptbp2 |
G |
A |
3: 119,519,746 (GRCm39) |
T107I |
probably damaging |
Het |
Ptpn12 |
C |
T |
5: 21,214,544 (GRCm39) |
W197* |
probably null |
Het |
Rhobtb1 |
T |
C |
10: 69,105,819 (GRCm39) |
V128A |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,618,618 (GRCm39) |
T3866A |
probably damaging |
Het |
Serpina3m |
T |
C |
12: 104,355,509 (GRCm39) |
Y59H |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,172,343 (GRCm39) |
V414A |
possibly damaging |
Het |
Slc34a1 |
T |
C |
13: 55,561,278 (GRCm39) |
M581T |
probably benign |
Het |
Slco1c1 |
A |
G |
6: 141,515,040 (GRCm39) |
Y596C |
probably damaging |
Het |
Tecpr2 |
C |
T |
12: 110,897,945 (GRCm39) |
A399V |
possibly damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,016 (GRCm39) |
E246G |
probably damaging |
Het |
Vmn1r224 |
A |
T |
17: 20,639,953 (GRCm39) |
I177L |
probably benign |
Het |
Zswim5 |
C |
T |
4: 116,842,000 (GRCm39) |
T860I |
probably benign |
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 |
IGL02693:Stoml1
|
APN |
9 |
58,164,359 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTTTGCTGGGAATCAAGAGG -3'
(R):5'- GACAGCCACACCTGTAGTAAG -3'
Sequencing Primer
(F):5'- TCTTGGGAGAAGGCAATTTCAC -3'
(R):5'- TAAGGTCCAGGAAGTAGATACTCTG -3'
|
Posted On |
2016-12-20 |