Incidental Mutation 'IGL02199:Stoml2'
ID |
284239 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stoml2
|
Ensembl Gene |
ENSMUSG00000028455 |
Gene Name |
stomatin (Epb7.2)-like 2 |
Synonyms |
SLP-2, 0610038F01Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.692)
|
Stock # |
IGL02199
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43027690-43031402 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 43029366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000067481]
[ENSMUST00000098109]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000136326]
[ENSMUST00000135067]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000138030]
|
AlphaFold |
Q99JB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030169
|
SMART Domains |
Protein: ENSMUSP00000030169 Gene: ENSMUSG00000028455
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: ENSMUST00000067481
|
SMART Domains |
Protein: ENSMUSP00000069749 Gene: ENSMUSG00000028454
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Phosphodiest
|
173 |
300 |
7.3e-17 |
PFAM |
low complexity region
|
308 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
low complexity region
|
417 |
428 |
N/A |
INTRINSIC |
transmembrane domain
|
448 |
470 |
N/A |
INTRINSIC |
transmembrane domain
|
477 |
499 |
N/A |
INTRINSIC |
transmembrane domain
|
509 |
528 |
N/A |
INTRINSIC |
low complexity region
|
539 |
559 |
N/A |
INTRINSIC |
transmembrane domain
|
669 |
688 |
N/A |
INTRINSIC |
transmembrane domain
|
703 |
722 |
N/A |
INTRINSIC |
transmembrane domain
|
743 |
765 |
N/A |
INTRINSIC |
transmembrane domain
|
829 |
851 |
N/A |
INTRINSIC |
transmembrane domain
|
858 |
880 |
N/A |
INTRINSIC |
transmembrane domain
|
921 |
940 |
N/A |
INTRINSIC |
low complexity region
|
955 |
979 |
N/A |
INTRINSIC |
transmembrane domain
|
992 |
1014 |
N/A |
INTRINSIC |
transmembrane domain
|
1029 |
1051 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098109
|
SMART Domains |
Protein: ENSMUSP00000095713 Gene: ENSMUSG00000028454
Domain | Start | End | E-Value | Type |
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
Pfam:Phosphodiest
|
129 |
304 |
6.5e-18 |
PFAM |
low complexity region
|
316 |
329 |
N/A |
INTRINSIC |
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
transmembrane domain
|
456 |
478 |
N/A |
INTRINSIC |
transmembrane domain
|
485 |
507 |
N/A |
INTRINSIC |
transmembrane domain
|
517 |
536 |
N/A |
INTRINSIC |
low complexity region
|
547 |
567 |
N/A |
INTRINSIC |
transmembrane domain
|
677 |
696 |
N/A |
INTRINSIC |
transmembrane domain
|
711 |
730 |
N/A |
INTRINSIC |
transmembrane domain
|
751 |
773 |
N/A |
INTRINSIC |
transmembrane domain
|
837 |
859 |
N/A |
INTRINSIC |
transmembrane domain
|
866 |
888 |
N/A |
INTRINSIC |
transmembrane domain
|
953 |
972 |
N/A |
INTRINSIC |
low complexity region
|
987 |
1011 |
N/A |
INTRINSIC |
transmembrane domain
|
1024 |
1046 |
N/A |
INTRINSIC |
transmembrane domain
|
1061 |
1083 |
N/A |
INTRINSIC |
|
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 |
noncoding transcript
Transcript: ENSMUST00000125180
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000123465
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
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 |
|
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 |
probably benign
Transcript: ENSMUST00000138030
|
SMART Domains |
Protein: ENSMUSP00000118465 Gene: ENSMUSG00000028455
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: ENSMUST00000153203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180854
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149333
|
SMART Domains |
Protein: ENSMUSP00000114917 Gene: ENSMUSG00000028454
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
Pfam:Phosphodiest
|
123 |
299 |
2.7e-18 |
PFAM |
low complexity region
|
311 |
324 |
N/A |
INTRINSIC |
low complexity region
|
326 |
339 |
N/A |
INTRINSIC |
low complexity region
|
352 |
363 |
N/A |
INTRINSIC |
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
low complexity region
|
450 |
460 |
N/A |
INTRINSIC |
transmembrane domain
|
531 |
550 |
N/A |
INTRINSIC |
low complexity region
|
565 |
589 |
N/A |
INTRINSIC |
transmembrane domain
|
602 |
624 |
N/A |
INTRINSIC |
transmembrane domain
|
639 |
661 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
Aspg |
T |
C |
12: 112,087,426 (GRCm39) |
V294A |
probably benign |
Het |
Brms1l |
A |
G |
12: 55,907,957 (GRCm39) |
|
probably benign |
Het |
Celf5 |
T |
A |
10: 81,318,318 (GRCm39) |
D41V |
possibly damaging |
Het |
Clcn3 |
T |
A |
8: 61,386,126 (GRCm39) |
K282* |
probably null |
Het |
Clcn3 |
T |
A |
8: 61,380,308 (GRCm39) |
T543S |
possibly damaging |
Het |
Ctsj |
T |
A |
13: 61,150,351 (GRCm39) |
N216I |
probably damaging |
Het |
Dusp28 |
A |
G |
1: 92,835,280 (GRCm39) |
|
probably benign |
Het |
Fbp1 |
A |
G |
13: 63,015,193 (GRCm39) |
I262T |
probably damaging |
Het |
Gata4 |
A |
G |
14: 63,437,912 (GRCm39) |
V413A |
possibly damaging |
Het |
Glb1 |
A |
G |
9: 114,303,015 (GRCm39) |
N617S |
probably benign |
Het |
Gm454 |
T |
A |
5: 138,202,285 (GRCm39) |
|
noncoding transcript |
Het |
Hesx1 |
A |
G |
14: 26,723,481 (GRCm39) |
S104G |
probably benign |
Het |
Igf2bp3 |
T |
C |
6: 49,065,458 (GRCm39) |
N478S |
probably benign |
Het |
Klrk1 |
T |
C |
6: 129,598,207 (GRCm39) |
|
probably null |
Het |
Lamb2 |
A |
G |
9: 108,357,824 (GRCm39) |
T116A |
possibly damaging |
Het |
Mbd2 |
T |
C |
18: 70,726,371 (GRCm39) |
V270A |
probably damaging |
Het |
Meis2 |
C |
T |
2: 115,830,737 (GRCm39) |
V259I |
probably benign |
Het |
Mtcl2 |
A |
T |
2: 156,872,865 (GRCm39) |
L882Q |
probably damaging |
Het |
Ngly1 |
T |
A |
14: 16,290,844 (GRCm38) |
I442K |
probably damaging |
Het |
Nrxn1 |
A |
G |
17: 90,344,686 (GRCm39) |
L409P |
probably damaging |
Het |
Otog |
G |
A |
7: 45,926,775 (GRCm39) |
V1175I |
possibly damaging |
Het |
Parp12 |
C |
T |
6: 39,073,524 (GRCm39) |
A434T |
probably benign |
Het |
Prrt3 |
G |
A |
6: 113,471,770 (GRCm39) |
P801S |
probably damaging |
Het |
Rps6ka2 |
G |
T |
17: 7,521,852 (GRCm39) |
|
probably benign |
Het |
Slc18a1 |
C |
A |
8: 69,496,632 (GRCm39) |
V344L |
probably benign |
Het |
Spg11 |
T |
A |
2: 121,890,034 (GRCm39) |
T2103S |
probably damaging |
Het |
Tshr |
T |
G |
12: 91,505,057 (GRCm39) |
L73R |
probably damaging |
Het |
Ylpm1 |
C |
T |
12: 85,080,779 (GRCm39) |
Q786* |
probably null |
Het |
|
Other mutations in Stoml2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R5882:Stoml2
|
UTSW |
4 |
43,031,003 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Posted On |
2015-04-16 |