Incidental Mutation 'R6292:Miga1'
| ID |
531257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Miga1
|
| Ensembl Gene |
ENSMUSG00000054942 |
| Gene Name |
mitoguardin 1 |
| Synonyms |
Fam73a, C030011O14Rik, Mita1 |
| MMRRC Submission |
044461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6292 (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 G
at 152023356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 232
(F232L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068243]
[ENSMUST00000073089]
[ENSMUST00000199334]
|
| AlphaFold |
Q4QQM5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068243
AA Change: F232L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000068261
Gene: ENSMUSG00000054942
AA Change: F232L
| 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: F232L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072836
Gene: ENSMUSG00000054942
AA Change: F232L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
27 |
571 |
4.8e-245 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199334
AA Change: F232L
PolyPhen 2
Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143238
Gene: ENSMUSG00000054942
AA Change: F232L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2217
|
26 |
496 |
1.2e-179 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
A |
5: 114,338,312 (GRCm39) |
V709E |
probably damaging |
Het |
| Ankrd33b |
C |
T |
15: 31,325,231 (GRCm39) |
|
probably null |
Het |
| Apaf1 |
T |
C |
10: 90,827,425 (GRCm39) |
T1202A |
possibly damaging |
Het |
| Apip |
G |
T |
2: 102,922,812 (GRCm39) |
C210F |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,659,550 (GRCm39) |
H170L |
probably benign |
Het |
| Clec16a |
T |
C |
16: 10,378,015 (GRCm39) |
|
probably null |
Het |
| Ep300 |
T |
A |
15: 81,500,935 (GRCm39) |
|
probably benign |
Het |
| Etl4 |
C |
T |
2: 20,748,384 (GRCm39) |
H39Y |
probably damaging |
Het |
| Gdap1l1 |
A |
T |
2: 163,293,427 (GRCm39) |
I218F |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,252 (GRCm39) |
C306S |
probably damaging |
Het |
| Gm9961 |
C |
T |
16: 11,748,336 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr27 |
C |
T |
6: 99,670,619 (GRCm39) |
S327L |
possibly damaging |
Het |
| Hectd3 |
A |
C |
4: 116,856,005 (GRCm39) |
T435P |
probably damaging |
Het |
| Hs3st1 |
T |
A |
5: 39,772,133 (GRCm39) |
Q170L |
possibly damaging |
Het |
| Hykk |
T |
C |
9: 54,828,110 (GRCm39) |
|
probably null |
Het |
| Lilra5 |
T |
C |
7: 4,241,338 (GRCm39) |
S92P |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,593,426 (GRCm39) |
N418K |
probably damaging |
Het |
| Mkrn2 |
T |
A |
6: 115,590,295 (GRCm39) |
M217K |
probably damaging |
Het |
| Myh7b |
A |
T |
2: 155,474,316 (GRCm39) |
Q1677L |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,579,867 (GRCm39) |
E645G |
probably damaging |
Het |
| Nckap5 |
T |
C |
1: 125,842,752 (GRCm39) |
K1752E |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,507,770 (GRCm39) |
|
probably null |
Het |
| Ntng1 |
T |
C |
3: 110,051,202 (GRCm39) |
|
probably benign |
Het |
| Nup133 |
A |
G |
8: 124,644,176 (GRCm39) |
V730A |
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,063 (GRCm39) |
M1K |
probably null |
Het |
| Or51v14 |
T |
A |
7: 103,261,386 (GRCm39) |
H58L |
probably damaging |
Het |
| Paqr6 |
C |
T |
3: 88,275,205 (GRCm39) |
P213S |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,512,802 (GRCm39) |
V627D |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,797,685 (GRCm39) |
V139E |
probably damaging |
Het |
| Scgb1b24 |
G |
T |
7: 33,443,577 (GRCm39) |
A79S |
possibly damaging |
Het |
| Slc25a28 |
T |
C |
19: 43,653,031 (GRCm39) |
D210G |
probably benign |
Het |
| Slc38a3 |
A |
T |
9: 107,532,353 (GRCm39) |
I393N |
possibly damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,090,790 (GRCm39) |
N465D |
probably damaging |
Het |
| Slc5a5 |
G |
A |
8: 71,343,822 (GRCm39) |
T160I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,608,292 (GRCm39) |
A117V |
probably damaging |
Het |
| Sorcs2 |
C |
T |
5: 36,219,931 (GRCm39) |
R371H |
probably damaging |
Het |
| Taf4 |
A |
G |
2: 179,565,780 (GRCm39) |
S872P |
probably damaging |
Het |
| Tdrd3 |
G |
T |
14: 87,743,690 (GRCm39) |
C540F |
probably benign |
Het |
| Thumpd1 |
A |
T |
7: 119,319,897 (GRCm39) |
L23Q |
probably benign |
Het |
| Top1 |
A |
T |
2: 160,540,061 (GRCm39) |
Y213F |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,712,160 (GRCm39) |
|
probably null |
Het |
| Unc79 |
C |
A |
12: 103,108,991 (GRCm39) |
A2005D |
possibly damaging |
Het |
| Upb1 |
T |
C |
10: 75,274,005 (GRCm39) |
L344P |
probably damaging |
Het |
| Vmn1r72 |
T |
A |
7: 11,403,579 (GRCm39) |
S290C |
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 20,013,866 (GRCm39) |
I219M |
possibly damaging |
Het |
| Wapl |
A |
G |
14: 34,451,152 (GRCm39) |
T729A |
probably damaging |
Het |
| Washc5 |
C |
T |
15: 59,227,783 (GRCm39) |
R393H |
probably damaging |
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 |
|
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'- GTCATTCAAGAAATCTTCTCAGGCC -3'
(R):5'- ATGGCTGAGCTCTTAGGATTAG -3'
Sequencing Primer
(F):5'- CATCCTGGTCTGCATAGTGAGC -3'
(R):5'- GATTAGGTCCAGCTGCCCCATC -3'
|
| Posted On |
2018-08-17 |
Incidental Mutation