Incidental Mutation 'IGL01461:Miga1'
| ID |
87982 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Miga1
|
| Ensembl Gene |
ENSMUSG00000054942 |
| Gene Name |
mitoguardin 1 |
| Synonyms |
Fam73a, C030011O14Rik, Mita1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01461
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
151979486-152046044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 152040934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 78
(E78K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000196265]
[ENSMUST00000199334]
[ENSMUST00000199397]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068243
AA Change: E78K
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: E78K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
306 |
6.3e-74 |
PFAM |
|
Pfam:DUF2217
|
298 |
507 |
2.8e-115 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073089
AA Change: E78K
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: E78K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
27 |
571 |
4.8e-245 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196265
AA Change: E78K
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942
AA Change: E78K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
146 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199334
AA Change: E78K
PolyPhen 2
Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: E78K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199397
AA Change: E78K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143008
Gene: ENSMUSG00000054942
AA Change: E78K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
145 |
8.4e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200241
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,429,214 (GRCm39) |
F767S |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,353,834 (GRCm39) |
T3719A |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,051,884 (GRCm39) |
M1137L |
probably benign |
Het |
| Brd9 |
C |
T |
13: 74,099,717 (GRCm39) |
Q445* |
probably null |
Het |
| Cdh23 |
T |
C |
10: 60,244,926 (GRCm39) |
T990A |
possibly damaging |
Het |
| Cenpf |
A |
G |
1: 189,389,293 (GRCm39) |
L1513S |
probably damaging |
Het |
| Col27a1 |
A |
G |
4: 63,142,480 (GRCm39) |
K56R |
probably damaging |
Het |
| Cryaa |
A |
G |
17: 31,900,000 (GRCm39) |
Y118C |
probably damaging |
Het |
| Dtl |
T |
C |
1: 191,278,729 (GRCm39) |
T378A |
possibly damaging |
Het |
| E330020D12Rik |
A |
G |
1: 153,284,105 (GRCm39) |
|
noncoding transcript |
Het |
| F7 |
A |
G |
8: 13,082,245 (GRCm39) |
D145G |
possibly damaging |
Het |
| Flvcr2 |
A |
G |
12: 85,849,905 (GRCm39) |
|
probably benign |
Het |
| Hltf |
A |
T |
3: 20,154,103 (GRCm39) |
K680* |
probably null |
Het |
| Ing1 |
T |
G |
8: 11,611,453 (GRCm39) |
F22V |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,165,945 (GRCm39) |
D330G |
probably damaging |
Het |
| Itgax |
G |
T |
7: 127,734,190 (GRCm39) |
D321Y |
probably damaging |
Het |
| Kel |
A |
C |
6: 41,678,845 (GRCm39) |
|
probably null |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,890,576 (GRCm39) |
M925L |
probably damaging |
Het |
| Or4c106 |
G |
T |
2: 88,682,669 (GRCm39) |
C125F |
probably damaging |
Het |
| Or7e165 |
T |
A |
9: 19,695,245 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
T |
C |
15: 85,704,575 (GRCm39) |
I454V |
possibly damaging |
Het |
| Poglut2 |
T |
C |
1: 44,150,094 (GRCm39) |
Q365R |
probably damaging |
Het |
| Prpf6 |
C |
A |
2: 181,273,304 (GRCm39) |
T283N |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,106,643 (GRCm39) |
H197R |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,233,013 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
A |
C |
16: 17,439,370 (GRCm39) |
Q7P |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,227,094 (GRCm39) |
I248K |
possibly damaging |
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 |
|
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 |
|
|
R8418:Miga1
|
UTSW |
3 |
151,990,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation