Incidental Mutation 'R8235:Msto1'
| ID |
637293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msto1
|
| Ensembl Gene |
ENSMUSG00000068922 |
| Gene Name |
misato 1, mitochondrial distribution and morphology regulator |
| Synonyms |
|
| MMRRC Submission |
067667-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.928)
|
| Stock # |
R8235 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88816923-88821257 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88820228 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 89
(L89Q)
|
| 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 |
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: L89Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103118
Gene: ENSMUSG00000068922
AA Change: L89Q
| 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: L76Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115645
Gene: ENSMUSG00000068922
AA Change: L76Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.8%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,212,077 (GRCm39) |
Q279H |
probably damaging |
Het |
| Abhd13 |
G |
A |
8: 10,037,394 (GRCm39) |
|
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,365,650 (GRCm39) |
N368S |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,967,458 (GRCm39) |
M1089T |
probably benign |
Het |
| Cbll1 |
C |
T |
12: 31,541,570 (GRCm39) |
D103N |
probably benign |
Het |
| Ccnd2 |
T |
C |
6: 127,107,305 (GRCm39) |
D288G |
probably benign |
Het |
| Chek1 |
T |
A |
9: 36,630,870 (GRCm39) |
R181S |
probably benign |
Het |
| Chrna7 |
T |
C |
7: 62,861,972 (GRCm39) |
R27G |
probably damaging |
Het |
| Crybb1 |
A |
G |
5: 112,405,266 (GRCm39) |
K6R |
probably damaging |
Het |
| Ehbp1 |
G |
A |
11: 22,189,153 (GRCm39) |
T83M |
probably damaging |
Het |
| Entpd7 |
G |
A |
19: 43,705,984 (GRCm39) |
E269K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,460,576 (GRCm39) |
V729A |
possibly damaging |
Het |
| Farsa |
A |
G |
8: 85,595,545 (GRCm39) |
H480R |
probably damaging |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Hpn |
T |
C |
7: 30,802,208 (GRCm39) |
T228A |
possibly damaging |
Het |
| Lyst |
T |
A |
13: 13,935,323 (GRCm39) |
H3597Q |
possibly damaging |
Het |
| Map3k4 |
A |
T |
17: 12,458,968 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,436,110 (GRCm39) |
E2185G |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,824 (GRCm39) |
E1534G |
probably damaging |
Het |
| Nfkbia |
T |
C |
12: 55,537,608 (GRCm39) |
Y195C |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,641,603 (GRCm39) |
M469K |
probably benign |
Het |
| Nwd1 |
TCATCC |
TCATCCATCC |
8: 73,438,314 (GRCm39) |
|
probably null |
Het |
| Or8i2 |
T |
C |
2: 86,852,226 (GRCm39) |
I221V |
probably benign |
Het |
| Potefam3e |
C |
A |
8: 19,799,476 (GRCm39) |
T308N |
probably benign |
Het |
| Prdm2 |
G |
A |
4: 142,859,037 (GRCm39) |
Q1418* |
probably null |
Het |
| Ptk2 |
T |
C |
15: 73,215,140 (GRCm39) |
T13A |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,465,037 (GRCm39) |
N1292K |
possibly damaging |
Het |
| Ptprq |
A |
C |
10: 107,418,402 (GRCm39) |
V1658G |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,541,351 (GRCm39) |
F392I |
probably benign |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,325,461 (GRCm39) |
|
probably benign |
Het |
| Samd4b |
C |
T |
7: 28,106,031 (GRCm39) |
V396I |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,029,952 (GRCm39) |
L906Q |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,257 (GRCm39) |
D33G |
probably damaging |
Het |
| Trmt10c |
T |
C |
16: 55,854,939 (GRCm39) |
N232S |
probably benign |
Het |
| Trpc4 |
G |
A |
3: 54,209,669 (GRCm39) |
C678Y |
probably benign |
Het |
| Tulp3 |
T |
C |
6: 128,304,640 (GRCm39) |
N205D |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,278,656 (GRCm39) |
I100V |
probably benign |
Het |
| Unc45b |
A |
G |
11: 82,810,681 (GRCm39) |
I314V |
probably benign |
Het |
| Vegfa |
A |
T |
17: 46,342,236 (GRCm39) |
L194Q |
possibly damaging |
Het |
| Vps13c |
T |
C |
9: 67,834,678 (GRCm39) |
F1669S |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,863,063 (GRCm39) |
H3026Q |
probably benign |
Het |
| Zfp184 |
T |
G |
13: 22,144,053 (GRCm39) |
I586M |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATCACCTCTGCACTCAG -3'
(R):5'- ACCACAGCTTTTGAGAGAAGG -3'
Sequencing Primer
(F):5'- CTCAGAAGGCCCTGGAGGTTTG -3'
(R):5'- GAGAAGGATGGATTCCATATTCCCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation