Incidental Mutation 'R8370:Miga2'
| ID |
646329 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga2
|
| Ensembl Gene |
ENSMUSG00000026858 |
| Gene Name |
mitoguardin 2 |
| Synonyms |
Fam73b, 5730472N09Rik, R74766 |
| MMRRC Submission |
067809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8370 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30254245-30275533 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
AAGAG to AAG
at 30265755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077127
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077977]
[ENSMUST00000100214]
[ENSMUST00000116543]
[ENSMUST00000140075]
|
| 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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,696,881 (GRCm39) |
V92A |
possibly damaging |
Het |
| Armc2 |
T |
A |
10: 41,799,833 (GRCm39) |
N675I |
possibly damaging |
Het |
| Cav1 |
A |
G |
6: 17,339,293 (GRCm39) |
H126R |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,930 (GRCm39) |
L229P |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,631,824 (GRCm39) |
F227S |
probably damaging |
Het |
| Clec4a4 |
G |
A |
6: 122,968,758 (GRCm39) |
G41D |
probably damaging |
Het |
| Commd1 |
A |
T |
11: 22,932,104 (GRCm39) |
L51Q |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,553,192 (GRCm39) |
V1245D |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,383,302 (GRCm39) |
I925T |
possibly damaging |
Het |
| Eprs1 |
T |
A |
1: 185,131,454 (GRCm39) |
I700K |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,319,284 (GRCm39) |
T983K |
probably damaging |
Het |
| Gm14325 |
T |
C |
2: 177,474,385 (GRCm39) |
I232M |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,732,679 (GRCm39) |
H683R |
probably benign |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif9 |
C |
T |
9: 110,317,681 (GRCm39) |
R113C |
probably damaging |
Het |
| Klhl33 |
C |
T |
14: 51,129,689 (GRCm39) |
R312Q |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,843,280 (GRCm39) |
E489G |
possibly damaging |
Het |
| Lhb |
A |
G |
7: 45,071,066 (GRCm39) |
D97G |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,888,117 (GRCm39) |
D2381G |
|
Het |
| Mmp17 |
A |
G |
5: 129,682,642 (GRCm39) |
D427G |
probably damaging |
Het |
| Mrps18b |
T |
C |
17: 36,223,254 (GRCm39) |
I131V |
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,398,882 (GRCm39) |
K567* |
probably null |
Het |
| Ncam1 |
T |
A |
9: 49,468,431 (GRCm39) |
R343* |
probably null |
Het |
| Nfrkb |
T |
A |
9: 31,316,875 (GRCm39) |
N591K |
probably damaging |
Het |
| Numb |
A |
T |
12: 83,854,974 (GRCm39) |
C117* |
probably null |
Het |
| Or5b123 |
T |
A |
19: 13,596,661 (GRCm39) |
I2N |
probably damaging |
Het |
| Or6ae1 |
A |
T |
7: 139,742,681 (GRCm39) |
Y61N |
probably damaging |
Het |
| Pfpl |
A |
T |
19: 12,407,275 (GRCm39) |
N509Y |
probably damaging |
Het |
| Prss58 |
C |
A |
6: 40,872,358 (GRCm39) |
G222C |
probably damaging |
Het |
| Ptx4 |
C |
A |
17: 25,342,314 (GRCm39) |
P263Q |
possibly damaging |
Het |
| Ribc2 |
T |
G |
15: 85,027,489 (GRCm39) |
H323Q |
probably benign |
Het |
| Rsf1 |
CGGCGGC |
CGGCGGCGGGGGCGGC |
7: 97,229,136 (GRCm39) |
|
probably benign |
Het |
| Smchd1 |
G |
A |
17: 71,701,908 (GRCm39) |
T1028M |
probably benign |
Het |
| Spata31d1e |
T |
C |
13: 59,891,766 (GRCm39) |
D18G |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,093,022 (GRCm39) |
I806V |
probably benign |
Het |
| Trim14 |
A |
T |
4: 46,523,711 (GRCm39) |
L109Q |
probably damaging |
Het |
| Wdfy4 |
A |
T |
14: 32,815,208 (GRCm39) |
H1602Q |
|
Het |
| Zbtb48 |
A |
G |
4: 152,105,744 (GRCm39) |
|
probably null |
Het |
| Zranb3 |
T |
C |
1: 127,895,670 (GRCm39) |
E726G |
probably benign |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- AGTTCTTTTGGACCCAGAGC -3'
(R):5'- CGAGCCTCATCTTGCTTCAG -3'
Sequencing Primer
(F):5'- AGAGCTGGCTCCATTTCCTCAG -3'
(R):5'- CTGTCTGCCATTTTAAGGGAATACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation