Incidental Mutation 'R2377:Miga2'
| ID |
248301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga2
|
| Ensembl Gene |
ENSMUSG00000026858 |
| Gene Name |
mitoguardin 2 |
| Synonyms |
Fam73b, 5730472N09Rik, R74766 |
| MMRRC Submission |
040354-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2377 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30254245-30275533 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 30274002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 83
(C83*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077977]
[ENSMUST00000100214]
[ENSMUST00000140075]
[ENSMUST00000175864]
|
| AlphaFold |
Q8BK03 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077977
AA Change: V546E
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000077127
Gene: ENSMUSG00000026858
AA Change: V546E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
30 |
568 |
5.6e-242 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100214
AA Change: V546E
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097787
Gene: ENSMUSG00000026858
AA Change: V546E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
31 |
568 |
6.9e-228 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125610
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000175864
AA Change: V92E
PolyPhen 2
Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000135812
Gene: ENSMUSG00000026858
AA Change: V92E
| 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
AA Change: C83*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
| Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
| Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
| Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
| Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
| Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
| Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
| Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
| Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
| Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
| Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
| Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
| Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
| Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
| Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
| Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
| Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
| Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
| Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Tnpo3 |
A |
C |
6: 29,579,618 (GRCm39) |
N258K |
probably benign |
Het |
| Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
| Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
| Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTGCTTAAGGCTGGGAGAG -3'
(R):5'- AAGGGAGTGGCAGCTTTCTC -3'
Sequencing Primer
(F):5'- CTTAAGGCTGGGAGAGTGGGC -3'
(R):5'- TTGTATCTGAGGCCCAAACAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation