Incidental Mutation 'R8418:Miga1'
| ID |
653026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga1
|
| Ensembl Gene |
ENSMUSG00000054942 |
| Gene Name |
mitoguardin 1 |
| Synonyms |
Fam73a, C030011O14Rik, Mita1 |
| MMRRC Submission |
067897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8418 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151979486-152046044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 151990954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 433
(Y433S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000199334]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068243
AA Change: Y369S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: Y369S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
306 |
6.3e-74 |
PFAM |
|
Pfam:DUF2217
|
298 |
507 |
2.8e-115 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073089
AA Change: Y433S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: Y433S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
27 |
571 |
4.8e-245 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199334
AA Change: Y433S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: Y433S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,021,477 (GRCm39) |
H449R |
probably benign |
Het |
| Arfgef2 |
T |
C |
2: 166,698,468 (GRCm39) |
V646A |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc62 |
C |
T |
5: 124,084,455 (GRCm39) |
R279* |
probably null |
Het |
| Cimip2b |
A |
G |
4: 43,427,204 (GRCm39) |
L76P |
unknown |
Het |
| Col6a5 |
G |
T |
9: 105,755,821 (GRCm39) |
P2201Q |
probably damaging |
Het |
| Cpa3 |
T |
C |
3: 20,276,315 (GRCm39) |
Y306C |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,260,398 (GRCm39) |
N82D |
possibly damaging |
Het |
| Dcaf17 |
T |
A |
2: 70,918,717 (GRCm39) |
D430E |
probably damaging |
Het |
| Dcst2 |
T |
C |
3: 89,278,901 (GRCm39) |
V546A |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,403 (GRCm39) |
T359A |
probably benign |
Het |
| Dgkb |
C |
A |
12: 38,380,016 (GRCm39) |
H591N |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,994,284 (GRCm39) |
S1047F |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,609,795 (GRCm39) |
I215T |
probably benign |
Het |
| Efcab12 |
A |
G |
6: 115,799,076 (GRCm39) |
|
probably null |
Het |
| Erich3 |
C |
T |
3: 154,415,378 (GRCm39) |
R165C |
|
Het |
| Gabrr1 |
C |
T |
4: 33,162,615 (GRCm39) |
R394* |
probably null |
Het |
| Garnl3 |
G |
T |
2: 32,942,158 (GRCm39) |
Q153K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,042,446 (GRCm39) |
N393S |
probably damaging |
Het |
| Gbp2b |
A |
T |
3: 142,309,466 (GRCm39) |
E192D |
probably benign |
Het |
| Gm28360 |
A |
T |
1: 117,781,357 (GRCm39) |
H116L |
probably benign |
Het |
| Gm9602 |
T |
A |
14: 15,935,348 (GRCm39) |
|
probably benign |
Het |
| Gp1bb |
T |
A |
16: 18,440,103 (GRCm39) |
H5L |
unknown |
Het |
| Grik3 |
A |
G |
4: 125,579,835 (GRCm39) |
K527E |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,771,714 (GRCm39) |
M199V |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,166 (GRCm39) |
V231A |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,929,454 (GRCm39) |
I1124F |
probably benign |
Het |
| Kash5 |
A |
G |
7: 44,843,501 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,430,926 (GRCm39) |
I8062K |
possibly damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,706,662 (GRCm39) |
V230G |
possibly damaging |
Het |
| Or52ab2 |
A |
G |
7: 102,970,278 (GRCm39) |
Y220C |
|
Het |
| Ptpn2 |
G |
A |
18: 67,814,592 (GRCm39) |
T139M |
probably damaging |
Het |
| Pum2 |
T |
A |
12: 8,760,245 (GRCm39) |
D145E |
possibly damaging |
Het |
| Radil |
T |
C |
5: 142,480,676 (GRCm39) |
E593G |
probably benign |
Het |
| Rdh14 |
T |
C |
12: 10,444,580 (GRCm39) |
F144L |
probably damaging |
Het |
| Sec23ip |
T |
G |
7: 128,380,187 (GRCm39) |
D867E |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,613,187 (GRCm39) |
Y371C |
probably damaging |
Het |
| Snx13 |
T |
A |
12: 35,148,233 (GRCm39) |
I254N |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,731,532 (GRCm39) |
K7E |
probably damaging |
Het |
| Thoc2l |
C |
A |
5: 104,667,724 (GRCm39) |
Q749K |
possibly damaging |
Het |
| Timeless |
A |
C |
10: 128,086,605 (GRCm39) |
N1048T |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,081,276 (GRCm39) |
E732D |
probably damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,740 (GRCm39) |
S137P |
probably damaging |
Het |
| Ttll3 |
A |
T |
6: 113,371,734 (GRCm39) |
M44L |
probably benign |
Het |
| Vmn2r29 |
T |
A |
7: 7,244,939 (GRCm39) |
I312L |
probably benign |
Het |
| Vmn2r43 |
A |
T |
7: 8,258,583 (GRCm39) |
L210* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,844,850 (GRCm39) |
I738V |
probably damaging |
Het |
| Zfp977 |
T |
A |
7: 42,229,410 (GRCm39) |
M372L |
probably benign |
Het |
|
| Other mutations in Miga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Miga1
|
APN |
3 |
151,982,327 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01461:Miga1
|
APN |
3 |
152,040,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Miga1
|
APN |
3 |
151,990,978 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Miga1
|
UTSW |
3 |
151,996,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0945:Miga1
|
UTSW |
3 |
152,023,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1527:Miga1
|
UTSW |
3 |
152,023,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1769:Miga1
|
UTSW |
3 |
151,993,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Miga1
|
UTSW |
3 |
152,040,941 (GRCm39) |
frame shift |
probably null |
|
|
R3697:Miga1
|
UTSW |
3 |
152,028,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4649:Miga1
|
UTSW |
3 |
151,984,642 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4660:Miga1
|
UTSW |
3 |
151,993,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Miga1
|
UTSW |
3 |
152,028,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Miga1
|
UTSW |
3 |
151,996,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5019:Miga1
|
UTSW |
3 |
152,028,098 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5488:Miga1
|
UTSW |
3 |
152,039,083 (GRCm39) |
small deletion |
probably benign |
|
|
R6107:Miga1
|
UTSW |
3 |
152,041,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6227:Miga1
|
UTSW |
3 |
151,984,586 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6292:Miga1
|
UTSW |
3 |
152,023,356 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6438:Miga1
|
UTSW |
3 |
152,028,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Miga1
|
UTSW |
3 |
151,989,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Miga1
|
UTSW |
3 |
151,984,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6564:Miga1
|
UTSW |
3 |
151,990,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Miga1
|
UTSW |
3 |
151,996,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Miga1
|
UTSW |
3 |
152,043,683 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7638:Miga1
|
UTSW |
3 |
151,982,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8039:Miga1
|
UTSW |
3 |
151,982,393 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8154:Miga1
|
UTSW |
3 |
152,026,337 (GRCm39) |
unclassified |
probably benign |
|
|
R8423:Miga1
|
UTSW |
3 |
152,028,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8486:Miga1
|
UTSW |
3 |
151,982,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Miga1
|
UTSW |
3 |
151,982,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Miga1
|
UTSW |
3 |
151,982,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Miga1
|
UTSW |
3 |
151,993,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGATCCCAATGACAAGG -3'
(R):5'- ACTCAGAGCCTAGCATTGCAC -3'
Sequencing Primer
(F):5'- TGGCCTTGGACTCACAGAGATC -3'
(R):5'- CCTAGCATTGCACAGCGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation