Incidental Mutation 'IGL01353:Miga2'
| ID |
75458 |
| 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 # |
IGL01353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30254245-30275533 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 30261245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077977]
[ENSMUST00000077977]
[ENSMUST00000100214]
[ENSMUST00000100214]
[ENSMUST00000116543]
[ENSMUST00000140075]
[ENSMUST00000140075]
[ENSMUST00000142801]
|
| AlphaFold |
Q8BK03 |
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000100214
|
| SMART Domains |
Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
31 |
568 |
6.9e-228 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000100214
|
| SMART Domains |
Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
| 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 null
Transcript: ENSMUST00000140075
|
| SMART Domains |
Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
| 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: ENSMUST00000140075
|
| SMART Domains |
Protein: ENSMUSP00000135519
Gene: ENSMUSG00000026858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
30 |
393 |
5.1e-125 |
PFAM |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146308
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142801
|
| SMART Domains |
Protein: ENSMUSP00000118253
Gene: ENSMUSG00000026858
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
30 |
139 |
4.1e-28 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,637,088 (GRCm39) |
N413K |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
| Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
| Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
| Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
| Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
| Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
| Otub2 |
A |
T |
12: 103,370,581 (GRCm39) |
M288L |
probably benign |
Het |
| Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
| Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,581,426 (GRCm39) |
V271E |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,667,474 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
| Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
| Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,828,574 (GRCm39) |
H295L |
probably 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 |
|
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 |
2013-10-07 |
Incidental Mutation