Incidental Mutation 'IGL02510:Msto1'
| ID |
296482 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msto1
|
| Ensembl Gene |
ENSMUSG00000068922 |
| Gene Name |
misato 1, mitochondrial distribution and morphology regulator |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.920)
|
| Stock # |
IGL02510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88816923-88821257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88817652 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 439
(Y439H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115645
(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: Y452H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: Y452H
| 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 |
probably damaging
Transcript: ENSMUST00000126245
AA Change: Y439H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: Y439H
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
G |
A |
1: 171,078,959 (GRCm39) |
S193N |
probably benign |
Het |
| Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
| Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
| Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
| Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or2av9 |
T |
C |
11: 58,381,365 (GRCm39) |
Y72C |
probably damaging |
Het |
| Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
| Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
| Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
| Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,826 (GRCm39) |
H911Q |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
| Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
| Tsga10 |
C |
T |
1: 37,800,066 (GRCm39) |
R608Q |
possibly damaging |
Het |
| Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
| Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
| Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
| Zup1 |
A |
G |
10: 33,806,150 (GRCm39) |
|
probably null |
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 |
|
IGL03120:Msto1
|
APN |
3 |
88,818,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0041:Msto1
|
UTSW |
3 |
88,817,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
2015-04-16 |
Incidental Mutation