Incidental Mutation 'IGL02962:Miga1'
| ID |
365410 |
| 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 # |
IGL02962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
151979486-152046044 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 151990978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000199334]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068243
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
| 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 benign
Transcript: ENSMUST00000073089
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
27 |
571 |
4.8e-245 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199334
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199872
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
| 9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
| Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
| Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
| Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
| Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
| Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
| Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
| Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
| Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
| Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
| Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
| Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably 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 |
|
IGL01461:Miga1
|
APN |
3 |
152,040,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation