Incidental Mutation 'IGL01547:Mtfr2'
| ID |
90368 |
| 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: 0.081)
|
| Stock # |
IGL01547
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
20223516-20237050 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 20233345 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 305
(P305S)
|
| 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: P305S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129315
Gene: ENSMUSG00000019992
AA Change: P305S
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
G |
A |
4: 137,182,573 (GRCm39) |
G243R |
possibly damaging |
Het |
| Afg3l1 |
T |
C |
8: 124,228,090 (GRCm39) |
V625A |
probably benign |
Het |
| Arhgap39 |
T |
C |
15: 76,622,015 (GRCm39) |
|
probably benign |
Het |
| Bag1 |
A |
G |
4: 40,936,661 (GRCm39) |
C332R |
probably damaging |
Het |
| Bcas2 |
T |
C |
3: 103,079,315 (GRCm39) |
Y49H |
probably damaging |
Het |
| Cacna1b |
C |
A |
2: 24,522,047 (GRCm39) |
|
probably benign |
Het |
| Cdyl |
A |
G |
13: 35,974,145 (GRCm39) |
D53G |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,747,013 (GRCm39) |
I1322V |
probably benign |
Het |
| Evc2 |
C |
A |
5: 37,550,431 (GRCm39) |
A815E |
probably benign |
Het |
| Gm6309 |
C |
T |
5: 146,105,221 (GRCm39) |
D231N |
probably benign |
Het |
| Or14c44 |
A |
G |
7: 86,062,079 (GRCm39) |
N170D |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,867 (GRCm39) |
I14N |
probably benign |
Het |
| Or7d10 |
A |
T |
9: 19,832,197 (GRCm39) |
I231F |
probably benign |
Het |
| Pcdhb1 |
A |
G |
18: 37,400,395 (GRCm39) |
H782R |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,635,768 (GRCm39) |
S480P |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,316,310 (GRCm39) |
T1085A |
probably benign |
Het |
| Sema6c |
C |
T |
3: 95,079,709 (GRCm39) |
R668C |
probably damaging |
Het |
| Tas2r123 |
C |
T |
6: 132,824,421 (GRCm39) |
T106I |
probably damaging |
Het |
| Tgm5 |
A |
G |
2: 120,879,683 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,681,383 (GRCm39) |
I97N |
possibly damaging |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,525 (GRCm39) |
K644N |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,027,521 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Mtfr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00341:Mtfr2
|
APN |
10 |
20,233,394 (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 |
2013-12-03 |
Incidental Mutation