Incidental Mutation 'R5867:Mff'
| ID |
490489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mff
|
| Ensembl Gene |
ENSMUSG00000026150 |
| Gene Name |
mitochondrial fission factor |
| Synonyms |
5230400G24Rik |
| MMRRC Submission |
043233-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.306)
|
| Stock # |
R5867 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
82702611-82730115 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 82728327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073025]
[ENSMUST00000078332]
[ENSMUST00000160744]
[ENSMUST00000160786]
[ENSMUST00000160972]
[ENSMUST00000161648]
[ENSMUST00000162003]
|
| AlphaFold |
Q6PCP5 |
| Predicted Effect |
probably null
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 null
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: 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 null
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 null
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 null
Transcript: ENSMUST00000160786
|
| SMART Domains |
Protein: ENSMUSP00000125230
Gene: ENSMUSG00000026150
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Miff
|
1 |
238 |
6e-101 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162573
|
| Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000162003
|
| SMART Domains |
Protein: ENSMUSP00000124334
Gene: ENSMUSG00000026150
| 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: ENSMUST00000188333
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,987,416 (GRCm39) |
V2900A |
probably damaging |
Het |
| Akip1 |
A |
G |
7: 109,306,684 (GRCm39) |
H127R |
probably benign |
Het |
| Alad |
A |
T |
4: 62,431,203 (GRCm39) |
Y56N |
probably damaging |
Het |
| Aldoart1 |
T |
A |
4: 72,770,770 (GRCm39) |
M13L |
probably benign |
Het |
| Ap1g1 |
C |
T |
8: 110,545,614 (GRCm39) |
A89V |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,718,279 (GRCm39) |
R1991* |
probably null |
Het |
| Cd209b |
T |
C |
8: 3,974,246 (GRCm39) |
I89V |
possibly damaging |
Het |
| Cd36 |
T |
C |
5: 17,990,733 (GRCm39) |
K469R |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,581 (GRCm39) |
I82N |
probably damaging |
Het |
| Clmn |
G |
T |
12: 104,748,014 (GRCm39) |
P511H |
probably damaging |
Het |
| Cyfip1 |
A |
C |
7: 55,576,061 (GRCm39) |
D1077A |
probably damaging |
Het |
| Cyp2a5 |
T |
C |
7: 26,542,383 (GRCm39) |
F462L |
probably benign |
Het |
| Dclk2 |
A |
G |
3: 86,699,166 (GRCm39) |
*709Q |
probably null |
Het |
| Drd1 |
T |
C |
13: 54,208,182 (GRCm39) |
T4A |
probably benign |
Het |
| Ephb2 |
C |
T |
4: 136,402,733 (GRCm39) |
V513I |
possibly damaging |
Het |
| Fam43a |
T |
A |
16: 30,420,277 (GRCm39) |
V287E |
probably benign |
Het |
| Gm5134 |
A |
G |
10: 75,844,450 (GRCm39) |
E602G |
probably benign |
Het |
| Gtsf2 |
C |
T |
15: 103,348,063 (GRCm39) |
G149E |
probably benign |
Het |
| Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,801,570 (GRCm39) |
T62A |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,348,954 (GRCm39) |
I662N |
possibly damaging |
Het |
| Lmod3 |
A |
G |
6: 97,224,963 (GRCm39) |
V286A |
probably damaging |
Het |
| Mefv |
T |
C |
16: 3,533,797 (GRCm39) |
D158G |
probably damaging |
Het |
| Mfsd6l |
G |
T |
11: 68,448,036 (GRCm39) |
V296L |
possibly damaging |
Het |
| Neu2 |
G |
T |
1: 87,524,478 (GRCm39) |
Q154H |
probably damaging |
Het |
| Or5m3b |
A |
G |
2: 85,871,795 (GRCm39) |
I45M |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,487,452 (GRCm39) |
H266L |
probably benign |
Het |
| Pdrg1 |
T |
C |
2: 152,855,975 (GRCm39) |
N40D |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,924 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
T |
A |
8: 117,781,750 (GRCm39) |
D765V |
probably damaging |
Het |
| Pspc1 |
A |
T |
14: 56,999,498 (GRCm39) |
|
probably null |
Het |
| Ptprm |
T |
C |
17: 67,352,976 (GRCm39) |
|
probably null |
Het |
| Spata31d1d |
T |
C |
13: 59,875,054 (GRCm39) |
K827R |
possibly damaging |
Het |
| Srebf2 |
T |
A |
15: 82,053,987 (GRCm39) |
F46Y |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,439,230 (GRCm39) |
C365S |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,629,900 (GRCm39) |
H294R |
possibly damaging |
Het |
| Ubr7 |
T |
A |
12: 102,727,753 (GRCm39) |
Y92N |
probably damaging |
Het |
| Vmn1r42 |
A |
C |
6: 89,821,761 (GRCm39) |
Y269* |
probably null |
Het |
| Vmn2r1 |
A |
G |
3: 64,011,990 (GRCm39) |
E617G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,889,904 (GRCm39) |
|
probably null |
Het |
| Vps50 |
T |
C |
6: 3,536,965 (GRCm39) |
L312P |
probably damaging |
Het |
| Wdr82 |
A |
G |
9: 106,062,503 (GRCm39) |
Q252R |
probably benign |
Het |
| Zcchc3 |
A |
G |
2: 152,256,444 (GRCm39) |
F85S |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,520,078 (GRCm39) |
L400P |
probably damaging |
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 |
|
|
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'- GCAGATAGTCATCTTAAGCTGCTTTTC -3'
(R):5'- TTGGTAGCAATGTTCTATGCTGATC -3'
Sequencing Primer
(F):5'- CATCTTAAGCTGCTTTTCCTTATTTG -3'
(R):5'- GCAATGTTCTATGCTGATCAAAATC -3'
|
| Posted On |
2017-10-20 |
Incidental Mutation