Incidental Mutation 'IGL03185:Stoml2'
ID |
412444 |
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 # |
IGL03185
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43027690-43031402 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43029065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 269
(N269S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030169
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000067481]
[ENSMUST00000098109]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000136326]
[ENSMUST00000135067]
[ENSMUST00000107959]
[ENSMUST00000138030]
|
AlphaFold |
Q99JB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030169
AA Change: N269S
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000030169 Gene: ENSMUSG00000028455 AA Change: N269S
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 |
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: ENSMUST00000136326
AA Change: N223S
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000117586 Gene: ENSMUSG00000028455 AA Change: N223S
Domain | Start | End | E-Value | Type |
PHB
|
1 |
148 |
1.33e-37 |
SMART |
coiled coil region
|
185 |
206 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000135660
AA Change: N227S
|
SMART Domains |
Protein: ENSMUSP00000123478 Gene: ENSMUSG00000028455 AA Change: N227S
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: ENSMUST00000153203
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125180
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123465
|
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 |
|
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: 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: ENSMUST00000180854
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,255,212 (GRCm39) |
D77G |
probably benign |
Het |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Babam2 |
T |
C |
5: 31,859,376 (GRCm39) |
I27T |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,339,482 (GRCm39) |
E442G |
probably damaging |
Het |
Ccdc92 |
A |
G |
5: 124,913,014 (GRCm39) |
Y172H |
probably damaging |
Het |
Chl1 |
T |
A |
6: 103,642,824 (GRCm39) |
D187E |
probably damaging |
Het |
Col6a4 |
A |
T |
9: 105,896,653 (GRCm39) |
F1721I |
probably damaging |
Het |
Corin |
C |
T |
5: 72,490,124 (GRCm39) |
G542D |
probably damaging |
Het |
Dennd1c |
C |
T |
17: 57,373,803 (GRCm39) |
D587N |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,894,707 (GRCm39) |
Y3424C |
probably damaging |
Het |
Echdc1 |
T |
A |
10: 29,207,836 (GRCm39) |
F127I |
possibly damaging |
Het |
F13b |
T |
A |
1: 139,444,124 (GRCm39) |
V486E |
probably benign |
Het |
Fkbp15 |
C |
T |
4: 62,250,423 (GRCm39) |
|
probably null |
Het |
Glt8d2 |
T |
A |
10: 82,498,110 (GRCm39) |
I100F |
probably damaging |
Het |
Gmip |
C |
T |
8: 70,262,433 (GRCm39) |
P10L |
probably benign |
Het |
Grm7 |
T |
C |
6: 110,623,183 (GRCm39) |
S119P |
possibly damaging |
Het |
Klf4 |
T |
C |
4: 55,530,911 (GRCm39) |
T58A |
possibly damaging |
Het |
Mink1 |
T |
C |
11: 70,494,686 (GRCm39) |
I289T |
probably damaging |
Het |
Mptx2 |
A |
T |
1: 173,102,356 (GRCm39) |
V111D |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,416,559 (GRCm39) |
E3168D |
possibly damaging |
Het |
Mylk3 |
C |
A |
8: 86,053,833 (GRCm39) |
V695F |
probably damaging |
Het |
Or11j4 |
C |
A |
14: 50,630,855 (GRCm39) |
T214K |
probably damaging |
Het |
Or7g21 |
T |
A |
9: 19,033,034 (GRCm39) |
V258E |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,056,332 (GRCm39) |
I1115K |
probably damaging |
Het |
Pira13 |
A |
G |
7: 3,826,229 (GRCm39) |
Y255H |
probably damaging |
Het |
Poglut2 |
G |
A |
1: 44,156,359 (GRCm39) |
S76L |
probably benign |
Het |
Pprc1 |
C |
A |
19: 46,058,186 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
C |
T |
4: 104,896,918 (GRCm39) |
|
probably null |
Het |
Prss50 |
A |
G |
9: 110,687,279 (GRCm39) |
Y74C |
probably benign |
Het |
Rnf145 |
T |
C |
11: 44,422,157 (GRCm39) |
L80P |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,084,662 (GRCm39) |
I120V |
probably benign |
Het |
Sgca |
T |
C |
11: 94,861,610 (GRCm39) |
M212V |
probably benign |
Het |
Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
Slc30a9 |
A |
G |
5: 67,490,406 (GRCm39) |
R226G |
probably benign |
Het |
Slc5a11 |
A |
G |
7: 122,864,412 (GRCm39) |
D336G |
possibly damaging |
Het |
Slfn8 |
T |
C |
11: 82,908,333 (GRCm39) |
H70R |
probably benign |
Het |
Synrg |
A |
G |
11: 83,872,305 (GRCm39) |
E142G |
probably damaging |
Het |
Thbs2 |
G |
A |
17: 14,901,672 (GRCm39) |
Q436* |
probably null |
Het |
Tyk2 |
T |
C |
9: 21,020,680 (GRCm39) |
N917S |
probably damaging |
Het |
Zfhx4 |
C |
A |
3: 5,468,974 (GRCm39) |
T3069K |
probably benign |
Het |
Zfp446 |
G |
T |
7: 12,712,925 (GRCm39) |
V88F |
probably null |
Het |
Zp3 |
A |
G |
5: 136,011,575 (GRCm39) |
N131S |
possibly damaging |
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 |
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 |
2016-08-02 |