Incidental Mutation 'R6558:Stoml1'
| ID |
522256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stoml1
|
| Ensembl Gene |
ENSMUSG00000032333 |
| Gene Name |
stomatin-like 1 |
| Synonyms |
WPB72, SLP-1, 1810015E19Rik, UNC-24 |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
58160447-58169803 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58163951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 90
(V90E)
|
| 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: V90E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034883
Gene: ENSMUSG00000032333
AA Change: V90E
| 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
|
| Meta Mutation Damage Score |
0.8574 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Drc3 |
A |
T |
11: 60,255,718 (GRCm39) |
I102F |
probably damaging |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
R5836:Stoml1
|
UTSW |
9 |
58,168,123 (GRCm39) |
missense |
probably benign |
|
|
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'- TGGGTTGACTTCTGGCCTAC -3'
(R):5'- TGTTACCTCCAAGAAGGCAG -3'
Sequencing Primer
(F):5'- GGGTTGACTTCTGGCCTACACTAC -3'
(R):5'- GGTCTGCCCACAGTTCACTATG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation