Incidental Mutation 'IGL02934:Mff'
| ID |
364205 |
| 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: 0.257)
|
| Stock # |
IGL02934
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 82724815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 229
(R229H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073025]
[ENSMUST00000078332]
[ENSMUST00000160744]
[ENSMUST00000160786]
[ENSMUST00000162003]
[ENSMUST00000161648]
[ENSMUST00000160972]
|
| AlphaFold |
Q6PCP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073025
AA Change: R152H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150
AA Change: R152H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
239 |
6.6e-101 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078332
AA Change: R204H
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: R204H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
291 |
2.2e-100 |
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 benign
Transcript: ENSMUST00000160744
|
| SMART Domains |
Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
137 |
2.6e-44 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160750
AA Change: R156H
|
| SMART Domains |
Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150
AA Change: R156H
| 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: ENSMUST00000160786
AA Change: R151H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
AA Change: R151H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
238 |
6e-101 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162003
AA Change: R229H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: R229H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
316 |
8.1e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188333
|
| 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: 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 |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,956,008 (GRCm39) |
R716* |
probably null |
Het |
| Abca8a |
A |
T |
11: 109,931,414 (GRCm39) |
N1246K |
probably damaging |
Het |
| Acadl |
A |
G |
1: 66,876,134 (GRCm39) |
Y396H |
probably benign |
Het |
| Apol7c |
A |
T |
15: 77,410,318 (GRCm39) |
S209R |
possibly damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,484,308 (GRCm39) |
C990* |
probably null |
Het |
| Cachd1 |
C |
T |
4: 100,825,295 (GRCm39) |
S583L |
probably damaging |
Het |
| Cbfa2t3 |
T |
C |
8: 123,374,497 (GRCm39) |
T48A |
probably benign |
Het |
| Ccdc138 |
G |
T |
10: 58,409,402 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,970,112 (GRCm39) |
E2231G |
probably damaging |
Het |
| Cog3 |
T |
C |
14: 75,979,129 (GRCm39) |
I206V |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,836,633 (GRCm39) |
|
probably benign |
Het |
| Ctdspl2 |
T |
C |
2: 121,809,490 (GRCm39) |
V147A |
probably damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,845 (GRCm39) |
V300A |
probably damaging |
Het |
| Dkk3 |
A |
T |
7: 111,749,954 (GRCm39) |
M72K |
probably damaging |
Het |
| Dock3 |
A |
T |
9: 106,900,944 (GRCm39) |
F340L |
probably benign |
Het |
| Fut1 |
A |
G |
7: 45,268,127 (GRCm39) |
H27R |
possibly damaging |
Het |
| Igkv4-80 |
A |
G |
6: 68,993,840 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv9-123 |
G |
A |
6: 67,931,380 (GRCm39) |
P62L |
possibly damaging |
Het |
| Kmt2e |
T |
C |
5: 23,702,882 (GRCm39) |
S1021P |
probably damaging |
Het |
| Krt13 |
A |
C |
11: 100,009,910 (GRCm39) |
L320R |
probably damaging |
Het |
| Ldhal6b |
T |
C |
17: 5,467,819 (GRCm39) |
T372A |
probably benign |
Het |
| Manba |
T |
C |
3: 135,250,510 (GRCm39) |
V379A |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,639 (GRCm39) |
V361I |
probably benign |
Het |
| Map4k1 |
A |
G |
7: 28,693,531 (GRCm39) |
S399G |
probably benign |
Het |
| Naga |
T |
C |
15: 82,214,401 (GRCm39) |
N370S |
possibly damaging |
Het |
| Ncor2 |
A |
T |
5: 125,102,621 (GRCm39) |
M2045K |
probably benign |
Het |
| Nipal1 |
T |
C |
5: 72,805,250 (GRCm39) |
L7P |
probably damaging |
Het |
| Or10p22 |
T |
A |
10: 128,825,958 (GRCm39) |
M59K |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,516,491 (GRCm39) |
M187K |
probably benign |
Het |
| Perp |
A |
T |
10: 18,731,520 (GRCm39) |
T160S |
probably damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,516,690 (GRCm39) |
D169N |
probably damaging |
Het |
| Sel1l |
G |
A |
12: 91,776,710 (GRCm39) |
Q711* |
probably null |
Het |
| Septin5 |
T |
C |
16: 18,448,581 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spdya |
A |
T |
17: 71,863,395 (GRCm39) |
N48I |
probably benign |
Het |
| Stard6 |
T |
A |
18: 70,629,175 (GRCm39) |
|
probably benign |
Het |
| Sytl2 |
T |
C |
7: 90,025,200 (GRCm39) |
V396A |
probably benign |
Het |
| Tcaf3 |
T |
G |
6: 42,570,832 (GRCm39) |
M307L |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,938,778 (GRCm39) |
N757D |
probably benign |
Het |
| Tgm1 |
T |
A |
14: 55,947,446 (GRCm39) |
D305V |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,516,862 (GRCm39) |
M213L |
probably damaging |
Het |
| Tmem184c |
A |
G |
8: 78,324,449 (GRCm39) |
V347A |
probably damaging |
Het |
| Tmem214 |
A |
G |
5: 31,028,888 (GRCm39) |
E159G |
probably benign |
Het |
| Trim58 |
C |
T |
11: 58,531,292 (GRCm39) |
|
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,031,215 (GRCm39) |
S1064R |
probably damaging |
Het |
| Ubr2 |
C |
T |
17: 47,268,266 (GRCm39) |
E983K |
possibly damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,914 (GRCm39) |
I288N |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,149,947 (GRCm39) |
V445A |
probably benign |
Het |
| Whrn |
G |
A |
4: 63,334,342 (GRCm39) |
T813M |
probably damaging |
Het |
| Xirp2 |
C |
T |
2: 67,346,020 (GRCm39) |
H2754Y |
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 |
|
IGL03381:Mff
|
APN |
1 |
82,719,661 (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 |
2015-12-18 |
Incidental Mutation