Incidental Mutation 'R8423:Miga1'
| ID |
653293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga1
|
| Ensembl Gene |
ENSMUSG00000054942 |
| Gene Name |
mitoguardin 1 |
| Synonyms |
Fam73a, C030011O14Rik, Mita1 |
| MMRRC Submission |
067899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8423 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
151979486-152046044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152028045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 161
(D161E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072836
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000196265]
[ENSMUST00000199334]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068243
AA Change: D161E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: D161E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
306 |
6.3e-74 |
PFAM |
|
Pfam:DUF2217
|
298 |
507 |
2.8e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073089
AA Change: D161E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: D161E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
27 |
571 |
4.8e-245 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196265
|
| SMART Domains |
Protein: ENSMUSP00000142667
Gene: ENSMUSG00000054942
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
146 |
1.5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199334
AA Change: D161E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: D161E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199443
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
G |
12: 113,454,530 (GRCm39) |
D449G |
possibly damaging |
Het |
| Ampd1 |
T |
C |
3: 102,988,305 (GRCm39) |
S83P |
probably benign |
Het |
| Bub1 |
G |
A |
2: 127,649,750 (GRCm39) |
L703F |
probably benign |
Het |
| C1rb |
T |
A |
6: 124,551,617 (GRCm39) |
D242E |
probably damaging |
Het |
| Carf |
T |
A |
1: 60,189,752 (GRCm39) |
L659Q |
possibly damaging |
Het |
| Carmil3 |
A |
G |
14: 55,736,522 (GRCm39) |
N662S |
probably damaging |
Het |
| Ccno |
A |
G |
13: 113,124,678 (GRCm39) |
S83G |
possibly damaging |
Het |
| Chd3 |
A |
T |
11: 69,245,252 (GRCm39) |
Y1155* |
probably null |
Het |
| Clec16a |
A |
G |
16: 10,394,527 (GRCm39) |
E295G |
probably benign |
Het |
| Clnk |
A |
G |
5: 38,952,253 (GRCm39) |
|
probably null |
Het |
| Clvs2 |
T |
C |
10: 33,498,855 (GRCm39) |
D25G |
possibly damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,827 (GRCm39) |
R302W |
probably damaging |
Het |
| Col20a1 |
A |
G |
2: 180,640,498 (GRCm39) |
T594A |
probably damaging |
Het |
| Dclk3 |
C |
T |
9: 111,297,787 (GRCm39) |
R444W |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 49,998,183 (GRCm39) |
V761A |
probably damaging |
Het |
| Dnah7a |
C |
A |
1: 53,512,063 (GRCm39) |
K2999N |
possibly damaging |
Het |
| Dusp28 |
T |
C |
1: 92,834,906 (GRCm39) |
S44P |
probably damaging |
Het |
| Enpep |
T |
G |
3: 129,102,774 (GRCm39) |
N394T |
probably damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,998 (GRCm39) |
F1343I |
probably damaging |
Het |
| Fbxl12 |
C |
A |
9: 20,550,160 (GRCm39) |
R165L |
possibly damaging |
Het |
| Fbxo40 |
A |
T |
16: 36,790,947 (GRCm39) |
H54Q |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,744,111 (GRCm39) |
D315G |
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,800 (GRCm39) |
D482V |
probably damaging |
Het |
| Gm17175 |
T |
A |
14: 51,809,070 (GRCm39) |
I99F |
possibly damaging |
Het |
| Heatr4 |
A |
G |
12: 84,027,104 (GRCm39) |
F51S |
probably benign |
Het |
| Herc1 |
T |
C |
9: 66,415,442 (GRCm39) |
S4806P |
probably damaging |
Het |
| Hoxc11 |
G |
A |
15: 102,863,177 (GRCm39) |
V73I |
possibly damaging |
Het |
| Knl1 |
T |
G |
2: 118,900,513 (GRCm39) |
I738S |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,573,888 (GRCm39) |
I881T |
possibly damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,450 (GRCm39) |
F179S |
probably damaging |
Het |
| Lrrc8b |
G |
A |
5: 105,628,622 (GRCm39) |
V323M |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,599,852 (GRCm39) |
S665P |
probably benign |
Het |
| Mynn |
A |
G |
3: 30,657,933 (GRCm39) |
T84A |
probably benign |
Het |
| Or13c7d |
T |
C |
4: 43,770,598 (GRCm39) |
S138G |
possibly damaging |
Het |
| Or3a1b |
T |
C |
11: 74,012,492 (GRCm39) |
F126L |
probably benign |
Het |
| Or4a75 |
A |
T |
2: 89,448,331 (GRCm39) |
D68E |
probably damaging |
Het |
| Pik3r3 |
C |
T |
4: 116,079,572 (GRCm39) |
S23L |
probably benign |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Ralgapa1 |
A |
G |
12: 55,705,847 (GRCm39) |
S1892P |
probably damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,813,693 (GRCm39) |
Q540L |
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,872,706 (GRCm39) |
N323K |
possibly damaging |
Het |
| Tgm1 |
A |
T |
14: 55,943,100 (GRCm39) |
M580K |
probably benign |
Het |
| Tnrc6b |
G |
A |
15: 80,813,619 (GRCm39) |
G1792D |
unknown |
Het |
| Trim66 |
T |
A |
7: 109,074,599 (GRCm39) |
Q554L |
possibly damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Vmn1r238 |
G |
T |
18: 3,123,365 (GRCm39) |
C16* |
probably null |
Het |
| Vmn1r6 |
G |
A |
6: 56,979,495 (GRCm39) |
M52I |
probably benign |
Het |
| Zfp61 |
A |
G |
7: 23,991,459 (GRCm39) |
F231L |
probably benign |
Het |
|
| Other mutations in Miga1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Miga1
|
APN |
3 |
151,982,327 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01461:Miga1
|
APN |
3 |
152,040,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02962:Miga1
|
APN |
3 |
151,990,978 (GRCm39) |
splice site |
probably benign |
|
|
R0165:Miga1
|
UTSW |
3 |
151,996,480 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0945:Miga1
|
UTSW |
3 |
152,023,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1527:Miga1
|
UTSW |
3 |
152,023,300 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1769:Miga1
|
UTSW |
3 |
151,993,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Miga1
|
UTSW |
3 |
152,040,941 (GRCm39) |
frame shift |
probably null |
|
|
R3697:Miga1
|
UTSW |
3 |
152,028,073 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4649:Miga1
|
UTSW |
3 |
151,984,642 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4660:Miga1
|
UTSW |
3 |
151,993,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4679:Miga1
|
UTSW |
3 |
152,028,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4815:Miga1
|
UTSW |
3 |
151,996,443 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5019:Miga1
|
UTSW |
3 |
152,028,098 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5488:Miga1
|
UTSW |
3 |
152,039,083 (GRCm39) |
small deletion |
probably benign |
|
|
R6107:Miga1
|
UTSW |
3 |
152,041,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6227:Miga1
|
UTSW |
3 |
151,984,586 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6292:Miga1
|
UTSW |
3 |
152,023,356 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6438:Miga1
|
UTSW |
3 |
152,028,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Miga1
|
UTSW |
3 |
151,989,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6489:Miga1
|
UTSW |
3 |
151,984,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6564:Miga1
|
UTSW |
3 |
151,990,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7354:Miga1
|
UTSW |
3 |
151,996,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Miga1
|
UTSW |
3 |
152,043,683 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7638:Miga1
|
UTSW |
3 |
151,982,324 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8039:Miga1
|
UTSW |
3 |
151,982,393 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8154:Miga1
|
UTSW |
3 |
152,026,337 (GRCm39) |
unclassified |
probably benign |
|
|
R8418:Miga1
|
UTSW |
3 |
151,990,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Miga1
|
UTSW |
3 |
151,982,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Miga1
|
UTSW |
3 |
151,982,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8893:Miga1
|
UTSW |
3 |
151,982,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9600:Miga1
|
UTSW |
3 |
151,993,186 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTATCCTCCACAGGCTGG -3'
(R):5'- AGATTTGGCATGGACTTCAGG -3'
Sequencing Primer
(F):5'- TCCACAGGCTGGGGCTAAAAC -3'
(R):5'- TAGCATGCCTGAAACTCTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation