Incidental Mutation 'IGL00673:Miga2'
| ID |
10674 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Miga2
|
| Ensembl Gene |
ENSMUSG00000026858 |
| Gene Name |
mitoguardin 2 |
| Synonyms |
Fam73b, 5730472N09Rik, R74766 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30254245-30275533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 30257729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 9
(M9R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077977]
[ENSMUST00000100214]
[ENSMUST00000116543]
[ENSMUST00000140075]
[ENSMUST00000142801]
|
| AlphaFold |
Q8BK03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077977
AA Change: M9R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: M9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
30 |
568 |
5.6e-242 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100214
AA Change: M9R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: M9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
31 |
568 |
6.9e-228 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116543
|
| SMART Domains |
Protein: ENSMUSP00000135126
Gene: ENSMUSG00000026858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
1 |
91 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135841
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140075
AA Change: M9R
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
AA Change: M9R
| 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 benign
Transcript: ENSMUST00000142801
AA Change: M9R
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118253
Gene: ENSMUSG00000026858
AA Change: M9R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
30 |
139 |
4.1e-28 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146308
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
T |
C |
9: 90,075,714 (GRCm39) |
S1191P |
possibly damaging |
Het |
| Alg2 |
C |
T |
4: 47,472,329 (GRCm39) |
D160N |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,442 (GRCm39) |
F487Y |
possibly damaging |
Het |
| Cdc27 |
A |
G |
11: 104,419,261 (GRCm39) |
Y224H |
probably damaging |
Het |
| Cdhr1 |
A |
G |
14: 36,807,485 (GRCm39) |
V385A |
probably benign |
Het |
| Cep128 |
G |
T |
12: 91,200,965 (GRCm39) |
H31Q |
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,932,701 (GRCm39) |
S242P |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,582,078 (GRCm39) |
F647L |
probably damaging |
Het |
| Itgbl1 |
C |
T |
14: 124,083,844 (GRCm39) |
|
probably benign |
Het |
| Kcnj3 |
G |
T |
2: 55,485,284 (GRCm39) |
D461Y |
possibly damaging |
Het |
| Kcnq3 |
G |
A |
15: 65,867,120 (GRCm39) |
T841M |
probably damaging |
Het |
| Kcnt2 |
T |
G |
1: 140,523,789 (GRCm39) |
N1103K |
possibly damaging |
Het |
| Mib1 |
A |
G |
18: 10,798,490 (GRCm39) |
S784G |
probably benign |
Het |
| Pals1 |
C |
A |
12: 78,876,573 (GRCm39) |
R506S |
possibly damaging |
Het |
| Prl2a1 |
T |
C |
13: 27,992,436 (GRCm39) |
S187P |
probably damaging |
Het |
| Psg28 |
A |
G |
7: 18,161,816 (GRCm39) |
V229A |
probably damaging |
Het |
| Ptdss2 |
G |
T |
7: 140,723,038 (GRCm39) |
C84F |
probably benign |
Het |
| Recql |
T |
A |
6: 142,322,647 (GRCm39) |
N85I |
probably null |
Het |
| Tex47 |
A |
T |
5: 7,355,211 (GRCm39) |
I131F |
probably damaging |
Het |
| Tlk1 |
G |
T |
2: 70,575,860 (GRCm39) |
Q323K |
probably damaging |
Het |
|
| Other mutations in Miga2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R2893: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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation