Incidental Mutation 'R4498:Mff'
| ID |
331676 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mff
|
| Ensembl Gene |
ENSMUSG00000026150 |
| Gene Name |
mitochondrial fission factor |
| Synonyms |
5230400G24Rik |
| MMRRC Submission |
041751-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.257)
|
| Stock # |
R4498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 82719501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073025]
[ENSMUST00000078332]
[ENSMUST00000160744]
[ENSMUST00000161648]
[ENSMUST00000160786]
[ENSMUST00000162003]
[ENSMUST00000160972]
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000077446
Gene: ENSMUSG00000026150
| 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 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000185536
|
| 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: ENSMUST00000160786
|
| SMART Domains |
Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
238 |
6e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162003
|
| SMART Domains |
Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
316 |
8.1e-143 |
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
91% (53/58) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
| Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
| Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
| Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
| Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
| Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
| Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
| Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
| Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
| Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
| Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
| Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
| Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
| Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
| Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
| Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
| Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCACACTCATTGCTGGGTC -3'
(R):5'- GTTTTCATCCAGCACATCCAAGATC -3'
Sequencing Primer
(F):5'- CAAGTTTTCCCTCTGCTCGGATTG -3'
(R):5'- GCACATCCAAGATCTGCTGGTAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation