Incidental Mutation 'R5984:Mff'
| ID |
481539 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mff
|
| Ensembl Gene |
ENSMUSG00000026150 |
| Gene Name |
mitochondrial fission factor |
| Synonyms |
5230400G24Rik |
| MMRRC Submission |
043251-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R5984 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 82708848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 66
(I66V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073025]
[ENSMUST00000078332]
[ENSMUST00000160744]
[ENSMUST00000160786]
[ENSMUST00000161648]
[ENSMUST00000160972]
[ENSMUST00000162003]
|
| AlphaFold |
Q6PCP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073025
AA Change: I66V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072784
Gene: ENSMUSG00000026150
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
239 |
6.6e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078332
AA Change: I66V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
291 |
2.2e-100 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159279
AA Change: I42V
|
| SMART Domains |
Protein: ENSMUSP00000123713
Gene: ENSMUSG00000026150
AA Change: I42V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
147 |
1.6e-60 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160044
AA Change: I42V
|
| SMART Domains |
Protein: ENSMUSP00000125005
Gene: ENSMUSG00000026150
AA Change: I42V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
130 |
7.5e-52 |
PFAM |
|
| 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: I60V
|
| SMART Domains |
Protein: ENSMUSP00000125223
Gene: ENSMUSG00000026150
AA Change: I60V
| 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 benign
Transcript: ENSMUST00000160786
AA Change: I66V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
238 |
6e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161648
AA Change: I66V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124164
Gene: ENSMUSG00000026150
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
243 |
1.1e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160972
AA Change: I66V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124200
Gene: ENSMUSG00000026150
AA Change: I66V
| 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: ENSMUST00000162003
AA Change: I66V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
AA Change: I66V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
316 |
8.1e-143 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161572
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162056
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9830107B12Rik |
T |
A |
17: 48,439,165 (GRCm39) |
L130F |
probably benign |
Het |
| Alox12 |
T |
C |
11: 70,137,881 (GRCm39) |
T420A |
possibly damaging |
Het |
| Ano5 |
T |
C |
7: 51,243,412 (GRCm39) |
I795T |
probably damaging |
Het |
| Atpsckmt |
C |
T |
15: 31,617,065 (GRCm39) |
R99* |
probably null |
Het |
| Crlf2 |
G |
A |
5: 109,703,469 (GRCm39) |
P92L |
probably damaging |
Het |
| Dgat1 |
T |
C |
15: 76,386,458 (GRCm39) |
Y492C |
probably damaging |
Het |
| Dna2 |
G |
C |
10: 62,798,285 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,211,344 (GRCm39) |
H982R |
probably benign |
Het |
| F13b |
A |
G |
1: 139,435,950 (GRCm39) |
D252G |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,887,049 (GRCm39) |
E151V |
probably damaging |
Het |
| Gabpb1 |
T |
C |
2: 126,488,573 (GRCm39) |
T264A |
probably damaging |
Het |
| Gemin5 |
T |
C |
11: 58,047,587 (GRCm39) |
E329G |
probably damaging |
Het |
| Git1 |
C |
T |
11: 77,397,309 (GRCm39) |
P721S |
possibly damaging |
Het |
| Hcn3 |
T |
C |
3: 89,055,570 (GRCm39) |
E559G |
probably benign |
Het |
| Invs |
G |
A |
4: 48,421,674 (GRCm39) |
A769T |
probably benign |
Het |
| Ism2 |
T |
A |
12: 87,333,809 (GRCm39) |
T79S |
possibly damaging |
Het |
| Lamb1 |
G |
A |
12: 31,377,773 (GRCm39) |
E1673K |
possibly damaging |
Het |
| Lmtk2 |
T |
A |
5: 144,111,656 (GRCm39) |
L792H |
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,543 (GRCm39) |
S380T |
probably benign |
Het |
| Mtor |
A |
G |
4: 148,623,284 (GRCm39) |
K2045E |
probably benign |
Het |
| Mycbp2 |
C |
A |
14: 103,364,120 (GRCm39) |
W4393L |
probably damaging |
Het |
| Or1e31 |
T |
A |
11: 73,690,407 (GRCm39) |
M59L |
possibly damaging |
Het |
| Or8k32 |
A |
T |
2: 86,368,512 (GRCm39) |
V249E |
probably damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,733 (GRCm39) |
D414G |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,835,022 (GRCm39) |
E149G |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,665,666 (GRCm39) |
R240G |
probably benign |
Het |
| Polr3d |
A |
T |
14: 70,676,927 (GRCm39) |
F389Y |
possibly damaging |
Het |
| Prex1 |
T |
G |
2: 166,427,664 (GRCm39) |
D826A |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,454 (GRCm39) |
S253T |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,957,459 (GRCm39) |
D705G |
probably damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,655,335 (GRCm39) |
N544I |
probably damaging |
Het |
| Rbm5 |
G |
A |
9: 107,622,141 (GRCm39) |
P611L |
probably damaging |
Het |
| Rev3l |
A |
T |
10: 39,618,685 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
T |
C |
15: 58,770,595 (GRCm39) |
Y207H |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,613,082 (GRCm39) |
R836H |
probably benign |
Het |
| Slc30a1 |
A |
G |
1: 191,639,212 (GRCm39) |
T32A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,810,982 (GRCm39) |
M1L |
probably benign |
Het |
| Sos1 |
T |
C |
17: 80,759,561 (GRCm39) |
D190G |
possibly damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,068,464 (GRCm39) |
D1677N |
probably damaging |
Het |
| Tmem132e |
G |
A |
11: 82,335,923 (GRCm39) |
D1002N |
probably damaging |
Het |
| Usp8 |
C |
A |
2: 126,584,401 (GRCm39) |
Q526K |
probably benign |
Het |
| Wt1 |
A |
G |
2: 105,002,597 (GRCm39) |
S488G |
probably benign |
Het |
| Zbtb43 |
A |
G |
2: 33,344,272 (GRCm39) |
S318P |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTGTTTTGGACACACATG -3'
(R):5'- TCCGTCATCTTAGGTTAATGTATGC -3'
Sequencing Primer
(F):5'- TGGACACACATGATAATTTTTGTACC -3'
(R):5'- AACTTTCTAATGCAAGCAGTGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation