Incidental Mutation 'R5115:Mfn1'
ID |
394142 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mfn1
|
Ensembl Gene |
ENSMUSG00000027668 |
Gene Name |
mitofusin 1 |
Synonyms |
D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik |
MMRRC Submission |
042703-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5115 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
32583614-32633388 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 32618456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120960
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091257]
[ENSMUST00000118286]
[ENSMUST00000151320]
|
AlphaFold |
Q811U4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000091257
|
SMART Domains |
Protein: ENSMUSP00000088801 Gene: ENSMUSG00000027668
Domain | Start | End | E-Value | Type |
Pfam:MMR_HSR1
|
77 |
237 |
1.7e-6 |
PFAM |
Pfam:Dynamin_N
|
78 |
238 |
3.9e-24 |
PFAM |
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
Pfam:Fzo_mitofusin
|
575 |
735 |
1.2e-78 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000118286
|
SMART Domains |
Protein: ENSMUSP00000113251 Gene: ENSMUSG00000027668
Domain | Start | End | E-Value | Type |
Pfam:MMR_HSR1
|
77 |
237 |
1.2e-6 |
PFAM |
Pfam:Dynamin_N
|
78 |
238 |
5e-24 |
PFAM |
low complexity region
|
315 |
326 |
N/A |
INTRINSIC |
low complexity region
|
394 |
405 |
N/A |
INTRINSIC |
Pfam:Fzo_mitofusin
|
567 |
737 |
6.3e-86 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140328
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151320
|
SMART Domains |
Protein: ENSMUSP00000120960 Gene: ENSMUSG00000027668
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
Pfam:Fzo_mitofusin
|
215 |
319 |
1.2e-56 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194384
|
Meta Mutation Damage Score |
0.9504 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.2%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a mediator of mitochondrial fusion. This protein and mitofusin 2 are homologs of the Drosophila protein fuzzy onion (Fzo). They are mitochondrial membrane proteins that interact with each other to facilitate mitochondrial targeting. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene die in mid gestation. Structural and functional abnormalities of mitochondria are reported. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
C |
T |
11: 54,231,324 (GRCm39) |
|
probably null |
Het |
Asic1 |
C |
T |
15: 99,569,933 (GRCm39) |
L85F |
probably damaging |
Het |
Atic |
G |
A |
1: 71,596,434 (GRCm39) |
|
probably null |
Het |
Atp1b2 |
T |
C |
11: 69,494,299 (GRCm39) |
T65A |
probably damaging |
Het |
C2cd6 |
T |
A |
1: 59,090,420 (GRCm39) |
I446L |
probably benign |
Het |
Cep83 |
A |
G |
10: 94,604,751 (GRCm39) |
H488R |
probably benign |
Het |
Cwc15 |
A |
G |
9: 14,419,192 (GRCm39) |
I163V |
probably benign |
Het |
Cyp11b2 |
A |
T |
15: 74,727,277 (GRCm39) |
|
probably null |
Het |
Fat2 |
A |
G |
11: 55,187,159 (GRCm39) |
V1229A |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,174,303 (GRCm39) |
D1851G |
probably damaging |
Het |
Golga7 |
A |
T |
8: 23,735,986 (GRCm39) |
|
probably null |
Het |
Gsdmc2 |
A |
T |
15: 63,699,617 (GRCm39) |
H270Q |
probably benign |
Het |
Kdm4a |
G |
T |
4: 118,019,778 (GRCm39) |
P326Q |
possibly damaging |
Het |
Kng1 |
G |
A |
16: 22,888,032 (GRCm39) |
R209H |
possibly damaging |
Het |
Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
Nlrc5 |
G |
A |
8: 95,203,447 (GRCm39) |
V516I |
possibly damaging |
Het |
Nrbp1 |
T |
G |
5: 31,401,059 (GRCm39) |
Y96* |
probably null |
Het |
Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,263,276 (GRCm39) |
|
probably benign |
Het |
Plin1 |
AGGCCACCAGGGGGTGGGC |
AGGC |
7: 79,379,692 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,444 (GRCm39) |
Q3082R |
probably benign |
Het |
Rbfox1 |
A |
G |
16: 7,227,636 (GRCm39) |
S405G |
probably damaging |
Het |
Recql |
T |
C |
6: 142,304,285 (GRCm39) |
|
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,113,651 (GRCm39) |
E365G |
probably damaging |
Het |
Slc17a5 |
A |
G |
9: 78,484,394 (GRCm39) |
V122A |
probably benign |
Het |
Sprr2b |
G |
T |
3: 92,224,862 (GRCm39) |
C36F |
unknown |
Het |
Stk36 |
T |
C |
1: 74,674,986 (GRCm39) |
I1307T |
probably damaging |
Het |
Tmc6 |
G |
A |
11: 117,666,014 (GRCm39) |
T300I |
probably damaging |
Het |
Ttll9 |
C |
A |
2: 152,831,510 (GRCm39) |
|
probably benign |
Het |
Vmn1r71 |
T |
A |
7: 10,481,885 (GRCm39) |
M202L |
probably benign |
Het |
Zfp276 |
A |
G |
8: 123,991,716 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Mfn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01155:Mfn1
|
APN |
3 |
32,596,985 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01687:Mfn1
|
APN |
3 |
32,617,515 (GRCm39) |
splice site |
probably benign |
|
IGL02743:Mfn1
|
APN |
3 |
32,628,439 (GRCm39) |
missense |
probably benign |
0.10 |
PIT4520001:Mfn1
|
UTSW |
3 |
32,615,695 (GRCm39) |
missense |
probably benign |
|
R0039:Mfn1
|
UTSW |
3 |
32,592,416 (GRCm39) |
splice site |
probably benign |
|
R0571:Mfn1
|
UTSW |
3 |
32,615,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R0920:Mfn1
|
UTSW |
3 |
32,588,385 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1661:Mfn1
|
UTSW |
3 |
32,588,471 (GRCm39) |
missense |
probably benign |
0.00 |
R1665:Mfn1
|
UTSW |
3 |
32,588,471 (GRCm39) |
missense |
probably benign |
0.00 |
R2153:Mfn1
|
UTSW |
3 |
32,596,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R2156:Mfn1
|
UTSW |
3 |
32,588,400 (GRCm39) |
missense |
possibly damaging |
0.60 |
R2260:Mfn1
|
UTSW |
3 |
32,617,575 (GRCm39) |
nonsense |
probably null |
|
R2420:Mfn1
|
UTSW |
3 |
32,623,664 (GRCm39) |
missense |
probably benign |
0.21 |
R3864:Mfn1
|
UTSW |
3 |
32,617,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4079:Mfn1
|
UTSW |
3 |
32,596,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R4162:Mfn1
|
UTSW |
3 |
32,617,147 (GRCm39) |
splice site |
probably benign |
|
R4897:Mfn1
|
UTSW |
3 |
32,600,711 (GRCm39) |
intron |
probably benign |
|
R5276:Mfn1
|
UTSW |
3 |
32,618,354 (GRCm39) |
missense |
probably benign |
0.39 |
R5590:Mfn1
|
UTSW |
3 |
32,617,996 (GRCm39) |
missense |
probably benign |
0.00 |
R5629:Mfn1
|
UTSW |
3 |
32,615,659 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6110:Mfn1
|
UTSW |
3 |
32,617,173 (GRCm39) |
missense |
probably benign |
0.01 |
R6114:Mfn1
|
UTSW |
3 |
32,617,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R6560:Mfn1
|
UTSW |
3 |
32,623,665 (GRCm39) |
missense |
probably damaging |
0.96 |
R6891:Mfn1
|
UTSW |
3 |
32,631,252 (GRCm39) |
missense |
possibly damaging |
0.49 |
R7053:Mfn1
|
UTSW |
3 |
32,586,114 (GRCm39) |
missense |
probably benign |
0.00 |
R7071:Mfn1
|
UTSW |
3 |
32,622,544 (GRCm39) |
missense |
probably benign |
0.00 |
R7182:Mfn1
|
UTSW |
3 |
32,618,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8190:Mfn1
|
UTSW |
3 |
32,622,538 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8998:Mfn1
|
UTSW |
3 |
32,623,683 (GRCm39) |
missense |
possibly damaging |
0.79 |
R8999:Mfn1
|
UTSW |
3 |
32,623,683 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9255:Mfn1
|
UTSW |
3 |
32,598,287 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9619:Mfn1
|
UTSW |
3 |
32,628,478 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1177:Mfn1
|
UTSW |
3 |
32,618,440 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCACTACTTCCAGCTGGTATAC -3'
(R):5'- GGGTGGTTTTATACTCCATAAGTTTCC -3'
Sequencing Primer
(F):5'- TTAATCCCTTGCAAAAAGTTTGACC -3'
(R):5'- TTCCTGGGTCATAAAGATGGCAC -3'
|
Posted On |
2016-06-15 |