Incidental Mutation 'IGL02002:Mff'
| ID |
183083 |
| 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 # |
IGL02002
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82719696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 225
(R225G)
|
| 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 benign
Transcript: ENSMUST00000078332
AA Change: R200G
PolyPhen 2
Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: R200G
| 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: R66G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125629
Gene: ENSMUSG00000026150
AA Change: R66G
| 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: R225G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: R225G
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
| Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
| Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
| Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
| Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
| Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
| Casp8ap2 |
T |
A |
4: 32,639,391 (GRCm39) |
N148K |
probably damaging |
Het |
| Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
| Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
| Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
| Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
| Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
| Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
| Gbp7 |
G |
A |
3: 142,244,661 (GRCm39) |
A203T |
probably damaging |
Het |
| Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
| Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
| Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
| Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
| Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
| Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
| Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
| Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
| Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
| Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
| Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
| Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
| Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
| Ppard |
T |
G |
17: 28,517,877 (GRCm39) |
F315C |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,298,381 (GRCm39) |
S585T |
probably damaging |
Het |
| Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
| Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
| Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
| Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
| Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
| Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
| Zdhhc17 |
C |
T |
10: 110,803,550 (GRCm39) |
V256I |
probably benign |
Het |
| Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
| Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
probably damaging |
Het |
|
| Other mutations in Mff |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02934:Mff
|
APN |
1 |
82,724,815 (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 |
2014-05-07 |
Incidental Mutation