Incidental Mutation 'R5882:Stoml2'
| ID |
454459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stoml2
|
| Ensembl Gene |
ENSMUSG00000028455 |
| Gene Name |
stomatin (Epb7.2)-like 2 |
| Synonyms |
SLP-2, 0610038F01Rik |
| MMRRC Submission |
043236-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.692)
|
| Stock # |
R5882 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43027690-43031402 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 43031003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 57
(R57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118465
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000138030]
[ENSMUST00000136326]
[ENSMUST00000135067]
|
| AlphaFold |
Q99JB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030169
AA Change: R51G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
AA Change: R51G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PHB
|
36 |
194 |
1.47e-57 |
SMART |
|
coiled coil region
|
231 |
252 |
N/A |
INTRINSIC |
|
Pfam:Band_7_C
|
259 |
321 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036462
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107956
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107957
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107958
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107959
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
480 |
537 |
8.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180854
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138030
AA Change: R57G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455
AA Change: R57G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PHB
|
42 |
200 |
1.47e-57 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153203
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135660
|
| SMART Domains |
Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
2 |
153 |
4.16e-39 |
SMART |
|
coiled coil region
|
189 |
210 |
N/A |
INTRINSIC |
|
Pfam:Band_7_C
|
218 |
280 |
3.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136326
|
| SMART Domains |
Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
1 |
148 |
1.33e-37 |
SMART |
|
coiled coil region
|
185 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135067
|
| SMART Domains |
Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.5%
- 20x: 86.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a floxed allele activated in T cells exhibit normal mitochondria migration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apol7e |
T |
A |
15: 77,602,447 (GRCm39) |
H348Q |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,645 (GRCm39) |
E400V |
probably damaging |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,839 (GRCm39) |
K176N |
probably benign |
Het |
| Dcaf4 |
T |
C |
12: 83,586,203 (GRCm39) |
V377A |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,851,675 (GRCm39) |
L71P |
probably damaging |
Het |
| Dmbx1 |
G |
T |
4: 115,777,498 (GRCm39) |
R117S |
probably damaging |
Het |
| Ep400 |
A |
G |
5: 110,903,453 (GRCm39) |
V382A |
probably benign |
Het |
| Kars1 |
G |
A |
8: 112,730,057 (GRCm39) |
R107* |
probably null |
Het |
| Kif16b |
C |
T |
2: 142,549,178 (GRCm39) |
|
probably null |
Het |
| Lrrc69 |
A |
G |
4: 14,708,690 (GRCm39) |
F218S |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,760,422 (GRCm39) |
Y1158C |
probably damaging |
Het |
| Myom1 |
G |
C |
17: 71,417,717 (GRCm39) |
A1307P |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,548,568 (GRCm39) |
V1389I |
possibly damaging |
Het |
| Nit2 |
T |
C |
16: 56,979,829 (GRCm39) |
D132G |
probably benign |
Het |
| Nln |
G |
T |
13: 104,196,006 (GRCm39) |
D60E |
probably benign |
Het |
| Oas1f |
G |
A |
5: 120,986,316 (GRCm39) |
E90K |
probably damaging |
Het |
| Obox3 |
A |
G |
7: 15,360,893 (GRCm39) |
V82A |
probably benign |
Het |
| Or4k35 |
A |
T |
2: 111,100,484 (GRCm39) |
V76E |
probably damaging |
Het |
| Or8b12 |
C |
T |
9: 37,657,928 (GRCm39) |
T166I |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,230 (GRCm39) |
Q727L |
probably benign |
Het |
| Phactr1 |
G |
T |
13: 42,863,327 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
T |
19: 31,563,097 (GRCm39) |
N116K |
probably damaging |
Het |
| Scnn1g |
A |
T |
7: 121,366,581 (GRCm39) |
S593C |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,494 (GRCm39) |
N85S |
probably benign |
Het |
| Spock3 |
A |
G |
8: 63,596,965 (GRCm39) |
T93A |
probably benign |
Het |
| St7 |
T |
C |
6: 17,846,248 (GRCm39) |
L121P |
probably damaging |
Het |
| Tdrd1 |
C |
T |
19: 56,837,371 (GRCm39) |
R532C |
probably damaging |
Het |
| Tmc5 |
A |
G |
7: 118,254,142 (GRCm39) |
N660S |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,339,731 (GRCm39) |
H233R |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,269,777 (GRCm39) |
V304A |
possibly damaging |
Het |
| Ush1g |
C |
A |
11: 115,209,368 (GRCm39) |
M275I |
probably damaging |
Het |
| Zfp882 |
A |
T |
8: 72,667,303 (GRCm39) |
|
probably null |
Het |
| Zim1 |
A |
T |
7: 6,685,737 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Stoml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02199:Stoml2
|
APN |
4 |
43,029,366 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02498:Stoml2
|
APN |
4 |
43,031,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03185:Stoml2
|
APN |
4 |
43,029,065 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0329:Stoml2
|
UTSW |
4 |
43,030,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0330:Stoml2
|
UTSW |
4 |
43,030,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1344:Stoml2
|
UTSW |
4 |
43,028,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2202:Stoml2
|
UTSW |
4 |
43,030,243 (GRCm39) |
nonsense |
probably null |
|
|
R2203:Stoml2
|
UTSW |
4 |
43,030,243 (GRCm39) |
nonsense |
probably null |
|
|
R2204:Stoml2
|
UTSW |
4 |
43,030,243 (GRCm39) |
nonsense |
probably null |
|
|
R2205:Stoml2
|
UTSW |
4 |
43,030,243 (GRCm39) |
nonsense |
probably null |
|
|
R4804:Stoml2
|
UTSW |
4 |
43,029,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4952:Stoml2
|
UTSW |
4 |
43,029,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5837:Stoml2
|
UTSW |
4 |
43,028,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5845:Stoml2
|
UTSW |
4 |
43,030,008 (GRCm39) |
unclassified |
probably benign |
|
|
R8867:Stoml2
|
UTSW |
4 |
43,028,256 (GRCm39) |
missense |
probably benign |
|
|
R9444:Stoml2
|
UTSW |
4 |
43,030,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9582:Stoml2
|
UTSW |
4 |
43,030,238 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGCCTATGGGTCACTAGG -3'
(R):5'- TCATGGTCCCCACGTGAATC -3'
Sequencing Primer
(F):5'- AAGCCTATGGGTCACTAGGGTATTAG -3'
(R):5'- ACGTGAATCACTCTCCGGG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation