Incidental Mutation 'R0041:Msto1'
| ID |
15692 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msto1
|
| Ensembl Gene |
ENSMUSG00000068922 |
| Gene Name |
misato 1, mitochondrial distribution and morphology regulator |
| Synonyms |
|
| MMRRC Submission |
038335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R0041 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88816923-88821257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88817542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 464
(S464P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081695]
[ENSMUST00000090942]
[ENSMUST00000107494]
[ENSMUST00000107498]
[ENSMUST00000126245]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081695
|
| SMART Domains |
Protein: ENSMUSP00000080397
Gene: ENSMUSG00000054199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
696 |
N/A |
INTRINSIC |
|
Blast:SANT
|
813 |
865 |
1e-23 |
BLAST |
|
low complexity region
|
961 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1311 |
1329 |
N/A |
INTRINSIC |
|
low complexity region
|
1418 |
1434 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1497 |
N/A |
INTRINSIC |
|
low complexity region
|
1507 |
1541 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
1652 |
1700 |
8.8e-9 |
PFAM |
|
low complexity region
|
1800 |
1811 |
N/A |
INTRINSIC |
|
coiled coil region
|
1919 |
1943 |
N/A |
INTRINSIC |
|
low complexity region
|
2085 |
2094 |
N/A |
INTRINSIC |
|
SANT
|
2153 |
2204 |
2.2e-1 |
SMART |
|
low complexity region
|
2207 |
2222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090942
|
| SMART Domains |
Protein: ENSMUSP00000088461
Gene: ENSMUSG00000054199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
684 |
697 |
N/A |
INTRINSIC |
|
Blast:SANT
|
814 |
866 |
2e-23 |
BLAST |
|
low complexity region
|
962 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1330 |
N/A |
INTRINSIC |
|
low complexity region
|
1419 |
1435 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1498 |
N/A |
INTRINSIC |
|
low complexity region
|
1508 |
1542 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
1654 |
1700 |
2.1e-8 |
PFAM |
|
low complexity region
|
1801 |
1812 |
N/A |
INTRINSIC |
|
coiled coil region
|
1920 |
1944 |
N/A |
INTRINSIC |
|
low complexity region
|
2086 |
2095 |
N/A |
INTRINSIC |
|
SANT
|
2154 |
2205 |
2.2e-1 |
SMART |
|
low complexity region
|
2208 |
2223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107494
AA Change: S464P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: S464P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
63 |
N/A |
INTRINSIC |
|
Pfam:Tubulin_3
|
153 |
345 |
5.3e-28 |
PFAM |
|
Pfam:Tubulin
|
169 |
300 |
7.3e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107498
|
| SMART Domains |
Protein: ENSMUSP00000103122
Gene: ENSMUSG00000054199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
256 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
542 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
696 |
N/A |
INTRINSIC |
|
Blast:SANT
|
813 |
865 |
1e-23 |
BLAST |
|
low complexity region
|
961 |
975 |
N/A |
INTRINSIC |
|
low complexity region
|
1311 |
1329 |
N/A |
INTRINSIC |
|
low complexity region
|
1418 |
1434 |
N/A |
INTRINSIC |
|
low complexity region
|
1452 |
1497 |
N/A |
INTRINSIC |
|
low complexity region
|
1507 |
1541 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
1652 |
1700 |
8.8e-9 |
PFAM |
|
low complexity region
|
1800 |
1811 |
N/A |
INTRINSIC |
|
coiled coil region
|
1919 |
1943 |
N/A |
INTRINSIC |
|
low complexity region
|
2085 |
2094 |
N/A |
INTRINSIC |
|
SANT
|
2153 |
2204 |
2.2e-1 |
SMART |
|
low complexity region
|
2207 |
2222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000126245
AA Change: S451P
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: S451P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Misat_Tub_SegII
|
6 |
120 |
2.1e-36 |
PFAM |
|
Pfam:Tubulin_3
|
140 |
332 |
1.9e-27 |
PFAM |
|
Pfam:Tubulin
|
151 |
288 |
8.7e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147828
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137243
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 77.6%
- 3x: 65.6%
- 10x: 37.8%
- 20x: 19.1%
|
| Validation Efficiency |
90% (47/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra3 |
A |
G |
5: 50,117,901 (GRCm39) |
Y1216H |
probably benign |
Het |
| Avpi1 |
C |
A |
19: 42,112,223 (GRCm39) |
E112* |
probably null |
Het |
| Braf |
C |
T |
6: 39,617,413 (GRCm39) |
A534T |
probably damaging |
Het |
| Cntnap5c |
C |
A |
17: 58,183,464 (GRCm39) |
Q57K |
probably benign |
Het |
| Dlk1 |
G |
C |
12: 109,421,439 (GRCm39) |
G50A |
probably damaging |
Het |
| Dtna |
C |
T |
18: 23,779,932 (GRCm39) |
|
probably benign |
Het |
| Fancm |
T |
A |
12: 65,153,217 (GRCm39) |
C1224* |
probably null |
Het |
| Gigyf2 |
A |
C |
1: 87,306,698 (GRCm39) |
R129S |
probably damaging |
Het |
| Kcnk2 |
G |
T |
1: 189,027,888 (GRCm39) |
N122K |
probably benign |
Het |
| Lrrc7 |
G |
A |
3: 157,869,897 (GRCm39) |
|
probably benign |
Het |
| Myh1 |
A |
C |
11: 67,099,904 (GRCm39) |
N605H |
possibly damaging |
Het |
| Olfml1 |
A |
T |
7: 107,189,393 (GRCm39) |
I153L |
possibly damaging |
Het |
| Plekhg1 |
T |
A |
10: 3,914,074 (GRCm39) |
N1265K |
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,903,042 (GRCm39) |
L110* |
probably null |
Het |
| Rlf |
T |
A |
4: 121,007,126 (GRCm39) |
H618L |
probably damaging |
Het |
| Rock1 |
T |
C |
18: 10,140,240 (GRCm39) |
D117G |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,851,615 (GRCm39) |
D124G |
probably damaging |
Het |
| Slco1a1 |
A |
G |
6: 141,864,185 (GRCm39) |
|
probably benign |
Het |
| Swap70 |
A |
G |
7: 109,878,562 (GRCm39) |
K511E |
probably benign |
Het |
| Synb |
T |
C |
14: 69,747,926 (GRCm39) |
T193A |
probably damaging |
Het |
| Syt11 |
A |
G |
3: 88,655,210 (GRCm39) |
Y364H |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,810,104 (GRCm39) |
H3229L |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,554,037 (GRCm39) |
W189* |
probably null |
Het |
| Zfp1001 |
A |
G |
2: 150,165,745 (GRCm39) |
I42V |
possibly damaging |
Het |
|
| Other mutations in Msto1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01307:Msto1
|
APN |
3 |
88,820,993 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01309:Msto1
|
APN |
3 |
88,820,993 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01327:Msto1
|
APN |
3 |
88,817,939 (GRCm39) |
splice site |
probably null |
|
|
IGL01505:Msto1
|
APN |
3 |
88,818,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01914:Msto1
|
APN |
3 |
88,820,210 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02292:Msto1
|
APN |
3 |
88,819,131 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02349:Msto1
|
APN |
3 |
88,818,205 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02510:Msto1
|
APN |
3 |
88,817,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03120:Msto1
|
APN |
3 |
88,818,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Msto1
|
UTSW |
3 |
88,818,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0282:Msto1
|
UTSW |
3 |
88,818,884 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0384:Msto1
|
UTSW |
3 |
88,817,646 (GRCm39) |
nonsense |
probably null |
|
|
R0450:Msto1
|
UTSW |
3 |
88,818,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0469:Msto1
|
UTSW |
3 |
88,818,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0510:Msto1
|
UTSW |
3 |
88,818,848 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2088:Msto1
|
UTSW |
3 |
88,818,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2516:Msto1
|
UTSW |
3 |
88,819,200 (GRCm39) |
splice site |
probably null |
|
|
R4897:Msto1
|
UTSW |
3 |
88,819,559 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5661:Msto1
|
UTSW |
3 |
88,820,192 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6179:Msto1
|
UTSW |
3 |
88,818,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Msto1
|
UTSW |
3 |
88,819,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6395:Msto1
|
UTSW |
3 |
88,812,781 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7039:Msto1
|
UTSW |
3 |
88,818,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7399:Msto1
|
UTSW |
3 |
88,819,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Msto1
|
UTSW |
3 |
88,817,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7583:Msto1
|
UTSW |
3 |
88,820,236 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7620:Msto1
|
UTSW |
3 |
88,818,614 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7993:Msto1
|
UTSW |
3 |
88,817,481 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8015:Msto1
|
UTSW |
3 |
88,818,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Msto1
|
UTSW |
3 |
88,820,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Msto1
|
UTSW |
3 |
88,819,184 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9071:Msto1
|
UTSW |
3 |
88,812,414 (GRCm39) |
unclassified |
probably benign |
|
|
R9246:Msto1
|
UTSW |
3 |
88,819,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2012-12-21 |
Incidental Mutation