Incidental Mutation 'IGL03381:Mff'
ID |
420688 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Mff
|
Ensembl Gene |
ENSMUSG00000026150 |
Gene Name |
mitochondrial fission factor |
Synonyms |
5230400G24Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.306)
|
Stock # |
IGL03381
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82719661 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 213
(Y213C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073025]
[ENSMUST00000078332]
[ENSMUST00000160744]
[ENSMUST00000162003]
[ENSMUST00000160972]
[ENSMUST00000161648]
[ENSMUST00000160786]
|
AlphaFold |
Q6PCP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073025
|
SMART Domains |
Protein: ENSMUSP00000072784 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
239 |
6.6e-101 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000078332
AA Change: Y188C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077446 Gene: ENSMUSG00000026150 AA Change: Y188C
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
291 |
2.2e-100 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159279
|
SMART Domains |
Protein: ENSMUSP00000123713 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
147 |
1.6e-60 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160044
|
SMART Domains |
Protein: ENSMUSP00000125005 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
130 |
7.5e-52 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160632
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160744
AA Change: Y54C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125629 Gene: ENSMUSG00000026150 AA Change: Y54C
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
137 |
2.6e-44 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160750
|
SMART Domains |
Protein: ENSMUSP00000125223 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
155 |
6.2e-67 |
PFAM |
Pfam:Miff
|
144 |
220 |
2.6e-28 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162003
AA Change: Y213C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124334 Gene: ENSMUSG00000026150 AA Change: Y213C
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
316 |
8.1e-143 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185536
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162794
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188333
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160972
|
SMART Domains |
Protein: ENSMUSP00000124200 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
152 |
8.1e-60 |
PFAM |
Pfam:Miff
|
146 |
218 |
1.8e-38 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161648
|
SMART Domains |
Protein: ENSMUSP00000124164 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
243 |
1.1e-102 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160786
|
SMART Domains |
Protein: ENSMUSP00000125230 Gene: ENSMUSG00000026150
Domain | Start | End | E-Value | Type |
Pfam:Miff
|
1 |
238 |
6e-101 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous knockout reduces mitochondrial hyperfusion-induced apoptotic cell death of endothelial cells of cardiac microvessels after induced ischemia/reperfusion injury. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
probably benign |
Het |
|
Other mutations in Mff |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02002:Mff
|
APN |
1 |
82,719,696 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02934:Mff
|
APN |
1 |
82,724,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Mff
|
UTSW |
1 |
82,728,285 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0755:Mff
|
UTSW |
1 |
82,728,326 (GRCm39) |
critical splice donor site |
probably null |
|
R1215:Mff
|
UTSW |
1 |
82,719,609 (GRCm39) |
missense |
probably benign |
0.45 |
R2074:Mff
|
UTSW |
1 |
82,729,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R2078:Mff
|
UTSW |
1 |
82,719,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R2365:Mff
|
UTSW |
1 |
82,713,192 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4498:Mff
|
UTSW |
1 |
82,719,501 (GRCm39) |
intron |
probably benign |
|
R5099:Mff
|
UTSW |
1 |
82,728,192 (GRCm39) |
intron |
probably benign |
|
R5867:Mff
|
UTSW |
1 |
82,728,327 (GRCm39) |
critical splice donor site |
probably null |
|
R5984:Mff
|
UTSW |
1 |
82,708,848 (GRCm39) |
missense |
probably benign |
0.00 |
R6723:Mff
|
UTSW |
1 |
82,729,387 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7135:Mff
|
UTSW |
1 |
82,724,812 (GRCm39) |
nonsense |
probably null |
|
R7373:Mff
|
UTSW |
1 |
82,714,838 (GRCm39) |
splice site |
probably null |
|
R7475:Mff
|
UTSW |
1 |
82,723,159 (GRCm39) |
splice site |
probably null |
|
R7792:Mff
|
UTSW |
1 |
82,724,802 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8088:Mff
|
UTSW |
1 |
82,729,370 (GRCm39) |
missense |
probably damaging |
1.00 |
R9375:Mff
|
UTSW |
1 |
82,707,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |