Incidental Mutation 'R1527:Miga1'
| ID |
166272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga1
|
| Ensembl Gene |
ENSMUSG00000054942 |
| Gene Name |
mitoguardin 1 |
| Synonyms |
Fam73a, C030011O14Rik, Mita1 |
| MMRRC Submission |
039567-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1527 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
151979486-152046044 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 152023300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 250
(F250L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000196265]
[ENSMUST00000199334]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068243
AA Change: F250L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: F250L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
306 |
6.3e-74 |
PFAM |
|
Pfam:DUF2217
|
298 |
507 |
2.8e-115 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073089
AA Change: F250L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: F250L
| 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 |
possibly damaging
Transcript: ENSMUST00000199334
AA Change: F250L
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: F250L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000199443
AA Change: F17L
|
| Meta Mutation Damage Score |
0.1630 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059E24Rik |
C |
A |
19: 21,575,633 (GRCm39) |
C130F |
probably damaging |
Het |
| 4933402N03Rik |
T |
C |
7: 130,740,589 (GRCm39) |
D209G |
probably benign |
Het |
| Adam7 |
A |
G |
14: 68,738,970 (GRCm39) |
V744A |
probably benign |
Het |
| Atr |
G |
T |
9: 95,752,096 (GRCm39) |
R571I |
possibly damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,118 (GRCm39) |
Y301H |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,829,753 (GRCm39) |
I954T |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,795 (GRCm39) |
F42S |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,425,408 (GRCm39) |
V789A |
probably benign |
Het |
| Chd2 |
A |
T |
7: 73,140,362 (GRCm39) |
L622* |
probably null |
Het |
| Csmd3 |
T |
C |
15: 47,811,483 (GRCm39) |
T1203A |
probably benign |
Het |
| Cxcl17 |
A |
G |
7: 25,101,636 (GRCm39) |
V67A |
possibly damaging |
Het |
| Ddx4 |
T |
C |
13: 112,758,773 (GRCm39) |
T263A |
possibly damaging |
Het |
| Eps8l1 |
A |
G |
7: 4,474,393 (GRCm39) |
D288G |
probably benign |
Het |
| Fbxl4 |
A |
G |
4: 22,386,154 (GRCm39) |
K254E |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,425,123 (GRCm39) |
S245P |
probably damaging |
Het |
| Gm11111 |
T |
C |
5: 98,701,387 (GRCm39) |
|
probably benign |
Het |
| Haus3 |
A |
T |
5: 34,311,397 (GRCm39) |
H544Q |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,649,554 (GRCm39) |
V644A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,114,264 (GRCm39) |
L2P |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Mga |
A |
G |
2: 119,747,078 (GRCm39) |
T410A |
probably damaging |
Het |
| Mical3 |
T |
C |
6: 121,001,740 (GRCm39) |
D584G |
probably damaging |
Het |
| Mroh1 |
A |
G |
15: 76,336,463 (GRCm39) |
D1553G |
probably benign |
Het |
| Myof |
T |
C |
19: 37,913,067 (GRCm39) |
Y1462C |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,718 (GRCm39) |
C144R |
probably damaging |
Het |
| Obox1 |
T |
C |
7: 15,289,250 (GRCm39) |
V55A |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,720 (GRCm39) |
H65L |
possibly damaging |
Het |
| Or4a69 |
C |
T |
2: 89,312,876 (GRCm39) |
G201D |
probably benign |
Het |
| Or6c69c |
T |
A |
10: 129,911,061 (GRCm39) |
S261T |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,662 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
C |
T |
5: 32,985,293 (GRCm39) |
V1401I |
possibly damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,905,130 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,698,818 (GRCm39) |
V1105D |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
A |
T |
11: 74,744,674 (GRCm39) |
C848* |
probably null |
Het |
| Slc39a10 |
A |
T |
1: 46,858,422 (GRCm39) |
V625E |
probably benign |
Het |
| Spry4 |
C |
T |
18: 38,723,630 (GRCm39) |
M44I |
probably benign |
Het |
| Stat5b |
A |
T |
11: 100,699,220 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
C |
6: 42,412,070 (GRCm39) |
I201T |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,202,050 (GRCm39) |
|
probably null |
Het |
| Tex44 |
A |
G |
1: 86,355,368 (GRCm39) |
T426A |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,179,950 (GRCm39) |
D807G |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,100,949 (GRCm39) |
N80S |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,672,082 (GRCm39) |
H579Q |
probably benign |
Het |
| Ufd1 |
T |
C |
16: 18,633,661 (GRCm39) |
S29P |
probably damaging |
Het |
| Ugt2a3 |
G |
T |
5: 87,473,457 (GRCm39) |
Q487K |
probably damaging |
Het |
| Zfyve9 |
A |
G |
4: 108,552,964 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8423:Miga1
|
UTSW |
3 |
152,028,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GCAGCCCCTCACTTCAATCTTAGATG -3'
(R):5'- GGCGGAACTGAGTCTTTACCAATCG -3'
Sequencing Primer
(F):5'- agacctacagcaaataccttttcc -3'
(R):5'- gcagttcttacacatgctaaagtc -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation