Incidental Mutation 'IGL03120:Msto1'
ID |
409940 |
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: 0.928)
|
Stock # |
IGL03120
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88816923-88821257 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 88818116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 366
(V366E)
|
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: V366E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103118 Gene: ENSMUSG00000068922 AA Change: V366E
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: V353E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000115645 Gene: ENSMUSG00000068922 AA Change: V353E
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
A |
G |
9: 122,778,118 (GRCm39) |
L42P |
probably benign |
Het |
Cacna1e |
T |
C |
1: 154,319,627 (GRCm39) |
I1420V |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
Corin |
T |
C |
5: 72,518,032 (GRCm39) |
Y263C |
probably damaging |
Het |
Cyp4f15 |
A |
T |
17: 32,909,738 (GRCm39) |
I112F |
probably damaging |
Het |
Dach1 |
T |
C |
14: 98,065,225 (GRCm39) |
E724G |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,101,008 (GRCm39) |
|
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,312,674 (GRCm39) |
E4297V |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,622,107 (GRCm39) |
|
probably benign |
Het |
Endod1 |
C |
A |
9: 14,268,331 (GRCm39) |
V385F |
probably damaging |
Het |
Etnppl |
A |
G |
3: 130,414,341 (GRCm39) |
T73A |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,373,206 (GRCm39) |
D104V |
possibly damaging |
Het |
Gp5 |
T |
C |
16: 30,127,016 (GRCm39) |
I553V |
possibly damaging |
Het |
Gpc5 |
A |
G |
14: 115,607,556 (GRCm39) |
E386G |
possibly damaging |
Het |
Hbb-bs |
A |
G |
7: 103,476,985 (GRCm39) |
|
probably benign |
Het |
Klra2 |
T |
A |
6: 131,197,180 (GRCm39) |
Y273F |
probably benign |
Het |
Lrrc37 |
T |
C |
11: 103,507,801 (GRCm39) |
|
probably benign |
Het |
Mtcl1 |
A |
G |
17: 66,686,378 (GRCm39) |
S843P |
probably damaging |
Het |
Nhsl2 |
A |
G |
X: 101,114,939 (GRCm39) |
N97S |
probably benign |
Het |
Npm2 |
C |
A |
14: 70,890,039 (GRCm39) |
|
probably benign |
Het |
Npr2 |
C |
T |
4: 43,643,133 (GRCm39) |
R506C |
probably damaging |
Het |
Olr1 |
T |
C |
6: 129,465,898 (GRCm39) |
E36G |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,609 (GRCm39) |
Y129F |
probably benign |
Het |
Pcdhb19 |
A |
G |
18: 37,631,209 (GRCm39) |
I335V |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,171,060 (GRCm39) |
D772G |
probably damaging |
Het |
Ppfibp1 |
C |
A |
6: 146,899,667 (GRCm39) |
D119E |
probably benign |
Het |
Prdm9 |
T |
C |
17: 15,765,193 (GRCm39) |
N529S |
probably benign |
Het |
Rnf20 |
T |
A |
4: 49,649,955 (GRCm39) |
|
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,120,869 (GRCm39) |
V77A |
possibly damaging |
Het |
Tmem132c |
T |
A |
5: 127,640,448 (GRCm39) |
V873E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,757,428 (GRCm39) |
|
probably null |
Het |
Vmn2r54 |
A |
G |
7: 12,349,314 (GRCm39) |
I756T |
probably 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 |
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 |
2016-08-02 |