Incidental Mutation 'R2893:Miga2'
ID |
477107 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Miga2
|
Ensembl Gene |
ENSMUSG00000026858 |
Gene Name |
mitoguardin 2 |
Synonyms |
Fam73b, 5730472N09Rik, R74766 |
MMRRC Submission |
040481-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2893 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30254245-30275533 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 30268306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077977]
[ENSMUST00000100214]
[ENSMUST00000140075]
[ENSMUST00000175864]
|
AlphaFold |
Q8BK03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000077977
|
SMART Domains |
Protein: ENSMUSP00000077127 Gene: ENSMUSG00000026858
Domain | Start | End | E-Value | Type |
Pfam:DUF2217
|
30 |
568 |
5.6e-242 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100214
|
SMART Domains |
Protein: ENSMUSP00000097787 Gene: ENSMUSG00000026858
Domain | Start | End | E-Value | Type |
Pfam:DUF2217
|
31 |
568 |
6.9e-228 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135841
|
Predicted Effect |
probably null
Transcript: ENSMUST00000140075
AA Change: R402*
|
SMART Domains |
Protein: ENSMUSP00000135519 Gene: ENSMUSG00000026858 AA Change: R402*
Domain | Start | End | E-Value | Type |
Pfam:DUF2217
|
30 |
393 |
5.1e-125 |
PFAM |
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000175864
|
SMART Domains |
Protein: ENSMUSP00000135812 Gene: ENSMUSG00000026858
Domain | Start | End | E-Value | Type |
Pfam:DUF2217
|
1 |
73 |
1.5e-46 |
PFAM |
Pfam:DUF2217
|
70 |
114 |
7.7e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176517
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Abl1 |
T |
G |
2: 31,687,624 (GRCm39) |
S521R |
probably benign |
Het |
Acox3 |
A |
G |
5: 35,757,192 (GRCm39) |
I344V |
probably benign |
Het |
Ank2 |
T |
C |
3: 127,041,892 (GRCm39) |
|
probably null |
Het |
Atoh8 |
A |
T |
6: 72,211,856 (GRCm39) |
F98Y |
probably benign |
Het |
Caskin2 |
C |
T |
11: 115,692,103 (GRCm39) |
G894E |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,583,374 (GRCm39) |
R59H |
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,208,110 (GRCm39) |
K779E |
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,432,786 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,362,950 (GRCm39) |
D1687G |
possibly damaging |
Het |
F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
Faap100 |
T |
C |
11: 120,265,451 (GRCm39) |
D475G |
probably damaging |
Het |
Fhip2a |
C |
T |
19: 57,372,601 (GRCm39) |
P617L |
probably benign |
Het |
Gm13090 |
T |
A |
4: 151,175,157 (GRCm39) |
L78* |
probably null |
Het |
Ikbke |
G |
A |
1: 131,197,961 (GRCm39) |
P382S |
probably damaging |
Het |
Il4i1 |
A |
G |
7: 44,487,414 (GRCm39) |
I130V |
probably damaging |
Het |
Islr2 |
A |
T |
9: 58,105,149 (GRCm39) |
S704T |
probably damaging |
Het |
Itga10 |
A |
G |
3: 96,562,416 (GRCm39) |
N733D |
probably benign |
Het |
Itih2 |
C |
T |
2: 10,107,008 (GRCm39) |
G662D |
possibly damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,493 (GRCm39) |
Q269R |
probably damaging |
Het |
Kcnj3 |
A |
T |
2: 55,337,027 (GRCm39) |
I298F |
probably damaging |
Het |
Kdr |
A |
G |
5: 76,107,496 (GRCm39) |
F1016L |
probably damaging |
Het |
Or51ai2 |
A |
T |
7: 103,587,389 (GRCm39) |
R267S |
probably damaging |
Het |
Per2 |
C |
A |
1: 91,373,325 (GRCm39) |
Q154H |
probably damaging |
Het |
Pik3ap1 |
G |
A |
19: 41,364,500 (GRCm39) |
A73V |
probably benign |
Het |
Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
Psma5-ps |
T |
C |
10: 85,149,848 (GRCm39) |
|
noncoding transcript |
Het |
Rad18 |
G |
A |
6: 112,652,734 (GRCm39) |
Q288* |
probably null |
Het |
Rapsn |
A |
T |
2: 90,867,169 (GRCm39) |
D157V |
probably damaging |
Het |
Slc2a8 |
A |
T |
2: 32,864,966 (GRCm39) |
W394R |
probably damaging |
Het |
Srcap |
T |
C |
7: 127,138,237 (GRCm39) |
S1136P |
probably damaging |
Het |
Tenm4 |
T |
A |
7: 96,544,197 (GRCm39) |
V2108D |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,029,235 (GRCm39) |
V1101M |
probably benign |
Het |
Ttbk2 |
C |
A |
2: 120,576,091 (GRCm39) |
|
probably null |
Het |
Usp8 |
A |
T |
2: 126,600,075 (GRCm39) |
Q998L |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r80 |
T |
C |
10: 78,984,699 (GRCm39) |
F17S |
possibly damaging |
Het |
|
Other mutations in Miga2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00673:Miga2
|
APN |
2 |
30,257,729 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01353:Miga2
|
APN |
2 |
30,261,245 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01679:Miga2
|
APN |
2 |
30,268,262 (GRCm39) |
missense |
probably benign |
0.07 |
IGL03113:Miga2
|
APN |
2 |
30,274,022 (GRCm39) |
missense |
possibly damaging |
0.96 |
uncertain
|
UTSW |
2 |
30,261,208 (GRCm39) |
missense |
probably benign |
0.00 |
R0620:Miga2
|
UTSW |
2 |
30,271,756 (GRCm39) |
unclassified |
probably benign |
|
R1698:Miga2
|
UTSW |
2 |
30,268,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R1729:Miga2
|
UTSW |
2 |
30,258,980 (GRCm39) |
missense |
probably damaging |
1.00 |
R1994:Miga2
|
UTSW |
2 |
30,272,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Miga2
|
UTSW |
2 |
30,274,002 (GRCm39) |
nonsense |
probably null |
|
R2891:Miga2
|
UTSW |
2 |
30,268,306 (GRCm39) |
splice site |
probably null |
|
R2892:Miga2
|
UTSW |
2 |
30,268,306 (GRCm39) |
splice site |
probably null |
|
R3788:Miga2
|
UTSW |
2 |
30,261,237 (GRCm39) |
nonsense |
probably null |
|
R4042:Miga2
|
UTSW |
2 |
30,257,738 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5214:Miga2
|
UTSW |
2 |
30,261,208 (GRCm39) |
missense |
probably benign |
0.00 |
R5750:Miga2
|
UTSW |
2 |
30,261,577 (GRCm39) |
missense |
probably damaging |
1.00 |
R5928:Miga2
|
UTSW |
2 |
30,258,875 (GRCm39) |
splice site |
probably benign |
|
R6134:Miga2
|
UTSW |
2 |
30,261,229 (GRCm39) |
missense |
probably benign |
0.00 |
R6209:Miga2
|
UTSW |
2 |
30,271,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R6860:Miga2
|
UTSW |
2 |
30,261,175 (GRCm39) |
missense |
probably benign |
0.15 |
R7373:Miga2
|
UTSW |
2 |
30,272,083 (GRCm39) |
missense |
probably damaging |
1.00 |
R7884:Miga2
|
UTSW |
2 |
30,261,216 (GRCm39) |
missense |
probably benign |
0.02 |
R8370:Miga2
|
UTSW |
2 |
30,265,755 (GRCm39) |
frame shift |
probably null |
|
R8371:Miga2
|
UTSW |
2 |
30,265,755 (GRCm39) |
frame shift |
probably null |
|
R8374:Miga2
|
UTSW |
2 |
30,265,755 (GRCm39) |
frame shift |
probably null |
|
R8847:Miga2
|
UTSW |
2 |
30,273,990 (GRCm39) |
missense |
probably damaging |
0.99 |
R9060:Miga2
|
UTSW |
2 |
30,271,735 (GRCm39) |
missense |
probably damaging |
1.00 |
R9253:Miga2
|
UTSW |
2 |
30,261,239 (GRCm39) |
missense |
probably benign |
0.18 |
R9286:Miga2
|
UTSW |
2 |
30,273,609 (GRCm39) |
missense |
probably benign |
0.33 |
R9526:Miga2
|
UTSW |
2 |
30,268,400 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
|
Posted On |
2017-05-15 |