Incidental Mutation 'R5845:Stoml2'
| ID |
453558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stoml2
|
| Ensembl Gene |
ENSMUSG00000028455 |
| Gene Name |
stomatin (Epb7.2)-like 2 |
| Synonyms |
SLP-2, 0610038F01Rik |
| MMRRC Submission |
044063-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.667)
|
| Stock # |
R5845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43027690-43031402 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to G
at 43030008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000143371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125180
|
| 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: 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 |
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
97% (59/61) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
A |
T |
5: 121,764,146 (GRCm39) |
Y928N |
probably benign |
Het |
| Amz2 |
T |
C |
11: 109,324,755 (GRCm39) |
F213S |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,199,682 (GRCm39) |
S732C |
probably damaging |
Het |
| Ccnf |
C |
A |
17: 24,459,767 (GRCm39) |
D229Y |
possibly damaging |
Het |
| Cdon |
G |
T |
9: 35,368,762 (GRCm39) |
C332F |
probably damaging |
Het |
| Clca3b |
G |
A |
3: 144,531,077 (GRCm39) |
R758C |
possibly damaging |
Het |
| Cyp2ab1 |
C |
T |
16: 20,131,082 (GRCm39) |
R349H |
probably benign |
Het |
| Dock10 |
C |
T |
1: 80,483,459 (GRCm39) |
|
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,078,550 (GRCm39) |
Y225N |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,618 (GRCm39) |
R92K |
probably benign |
Het |
| Eif3c |
T |
C |
7: 126,163,927 (GRCm39) |
S39G |
probably damaging |
Het |
| Eml3 |
A |
G |
19: 8,916,582 (GRCm39) |
D701G |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 16,288,506 (GRCm39) |
T339I |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,186,840 (GRCm39) |
D1687G |
possibly damaging |
Het |
| Fcnb |
C |
T |
2: 27,969,633 (GRCm39) |
|
probably null |
Het |
| Flacc1 |
T |
A |
1: 58,706,937 (GRCm39) |
E243D |
possibly damaging |
Het |
| Fscb |
A |
G |
12: 64,519,558 (GRCm39) |
V636A |
unknown |
Het |
| Gm6124 |
A |
G |
7: 38,869,299 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd4 |
T |
A |
5: 121,445,587 (GRCm39) |
|
probably null |
Het |
| Hrnr |
A |
T |
3: 93,239,944 (GRCm39) |
H3394L |
unknown |
Het |
| Hs1bp3 |
A |
G |
12: 8,386,275 (GRCm39) |
R226G |
probably benign |
Het |
| Ifngr2 |
T |
C |
16: 91,351,947 (GRCm39) |
V61A |
probably benign |
Het |
| Irag2 |
G |
A |
6: 145,117,392 (GRCm39) |
M376I |
probably benign |
Het |
| Kcnk2 |
T |
C |
1: 189,009,918 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Mgam |
T |
A |
6: 40,652,257 (GRCm39) |
N810K |
possibly damaging |
Het |
| Mis18a |
A |
G |
16: 90,518,522 (GRCm39) |
|
probably null |
Het |
| Nsmce3 |
A |
G |
7: 64,521,936 (GRCm39) |
V244A |
possibly damaging |
Het |
| Or10ag59 |
T |
C |
2: 87,406,367 (GRCm39) |
I313T |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,214,711 (GRCm39) |
V590D |
probably damaging |
Het |
| Prkab1 |
A |
T |
5: 116,162,219 (GRCm39) |
D30E |
probably benign |
Het |
| Rasgrp3 |
A |
T |
17: 75,810,142 (GRCm39) |
N281Y |
possibly damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,426,757 (GRCm39) |
|
probably null |
Het |
| Slc26a6 |
T |
G |
9: 108,739,282 (GRCm39) |
V609G |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,068,662 (GRCm39) |
M2154K |
probably damaging |
Het |
| Sult6b1 |
A |
C |
17: 79,202,059 (GRCm39) |
S148A |
probably damaging |
Het |
| Tmem131l |
A |
G |
3: 83,847,860 (GRCm39) |
V335A |
probably damaging |
Het |
| Tmem221 |
T |
A |
8: 72,007,788 (GRCm39) |
|
probably null |
Het |
| Tmem88 |
C |
G |
11: 69,288,504 (GRCm39) |
Q138H |
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,255,902 (GRCm39) |
Y186H |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,131,407 (GRCm39) |
I7T |
probably damaging |
Het |
| Ttc34 |
T |
C |
4: 154,949,929 (GRCm39) |
S961P |
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,486 (GRCm39) |
D1138G |
probably benign |
Het |
| Ubr7 |
C |
T |
12: 102,732,571 (GRCm39) |
R188C |
probably damaging |
Het |
| Uspl1 |
C |
T |
5: 149,130,770 (GRCm39) |
P118S |
probably benign |
Het |
| Vdr |
C |
A |
15: 97,767,647 (GRCm39) |
E114D |
possibly damaging |
Het |
| Zfp853 |
C |
T |
5: 143,274,424 (GRCm39) |
V399M |
unknown |
Het |
| Zswim4 |
T |
A |
8: 84,943,871 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TATCGCAGGCATCGGATACC -3'
(R):5'- CAAGGTATCTGCCCTGGGTTTATC -3'
Sequencing Primer
(F):5'- ATCGGATACCCCAGCAGTCTG -3'
(R):5'- AAAATCCTGCATCTTCAGTTCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation