Incidental Mutation 'IGL00341:Mtfr2'
ID |
6122 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mtfr2
|
Ensembl Gene |
ENSMUSG00000019992 |
Gene Name |
mitochondrial fission regulator 2 |
Synonyms |
4933412C16Rik, Fam54a, 2610016C23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL00341
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
20223516-20237050 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 20233394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 321
(D321G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169712]
[ENSMUST00000217608]
|
AlphaFold |
Q8VED8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169712
AA Change: D321G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129315 Gene: ENSMUSG00000019992 AA Change: D321G
Domain | Start | End | E-Value | Type |
Pfam:Mito_fiss_reg
|
40 |
299 |
3.7e-88 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213374
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217608
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
Krtap5-3 |
G |
T |
7: 141,755,612 (GRCm39) |
|
probably benign |
Het |
Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
Other mutations in Mtfr2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01547:Mtfr2
|
APN |
10 |
20,233,345 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01763:Mtfr2
|
APN |
10 |
20,228,683 (GRCm39) |
intron |
probably benign |
|
IGL01862:Mtfr2
|
APN |
10 |
20,224,149 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02707:Mtfr2
|
APN |
10 |
20,224,084 (GRCm39) |
missense |
probably benign |
0.40 |
IGL03008:Mtfr2
|
APN |
10 |
20,229,185 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0049:Mtfr2
|
UTSW |
10 |
20,224,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Mtfr2
|
UTSW |
10 |
20,224,158 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Mtfr2
|
UTSW |
10 |
20,224,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R0097:Mtfr2
|
UTSW |
10 |
20,224,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R1186:Mtfr2
|
UTSW |
10 |
20,228,598 (GRCm39) |
missense |
probably benign |
0.00 |
R4466:Mtfr2
|
UTSW |
10 |
20,224,159 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Mtfr2
|
UTSW |
10 |
20,233,448 (GRCm39) |
missense |
probably damaging |
0.99 |
R5373:Mtfr2
|
UTSW |
10 |
20,228,598 (GRCm39) |
missense |
probably benign |
0.30 |
R6999:Mtfr2
|
UTSW |
10 |
20,229,862 (GRCm39) |
missense |
probably benign |
0.05 |
R7066:Mtfr2
|
UTSW |
10 |
20,229,972 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7095:Mtfr2
|
UTSW |
10 |
20,228,666 (GRCm39) |
missense |
probably benign |
|
R7112:Mtfr2
|
UTSW |
10 |
20,233,312 (GRCm39) |
missense |
probably damaging |
0.97 |
R7506:Mtfr2
|
UTSW |
10 |
20,229,131 (GRCm39) |
missense |
probably benign |
0.06 |
R7847:Mtfr2
|
UTSW |
10 |
20,233,198 (GRCm39) |
missense |
probably benign |
0.15 |
R8017:Mtfr2
|
UTSW |
10 |
20,229,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R8019:Mtfr2
|
UTSW |
10 |
20,229,900 (GRCm39) |
missense |
probably damaging |
0.99 |
R8049:Mtfr2
|
UTSW |
10 |
20,228,603 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8082:Mtfr2
|
UTSW |
10 |
20,229,135 (GRCm39) |
missense |
probably benign |
0.02 |
R8933:Mtfr2
|
UTSW |
10 |
20,233,274 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9428:Mtfr2
|
UTSW |
10 |
20,233,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Posted On |
2012-04-20 |