Incidental Mutation 'IGL01687:Mfn1'
| ID |
103996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfn1
|
| Ensembl Gene |
ENSMUSG00000027668 |
| Gene Name |
mitofusin 1 |
| Synonyms |
D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01687
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32583614-32633388 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 32617515 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 benign
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 benign
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 benign
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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,306,769 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,336,067 (GRCm39) |
T375M |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,520,258 (GRCm39) |
R348* |
probably null |
Het |
| Dph6 |
A |
T |
2: 114,475,259 (GRCm39) |
Y85* |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,898 (GRCm39) |
H118Y |
probably damaging |
Het |
| Gprc5b |
A |
G |
7: 118,583,209 (GRCm39) |
F220S |
possibly damaging |
Het |
| Larp4 |
A |
G |
15: 99,894,369 (GRCm39) |
T213A |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,063,531 (GRCm39) |
V579A |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,077,695 (GRCm39) |
I65M |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,047 (GRCm39) |
L225Q |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,982 (GRCm39) |
|
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,194,106 (GRCm39) |
T17A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,257,243 (GRCm39) |
V396A |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,442,798 (GRCm39) |
S522P |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,473,574 (GRCm39) |
V484E |
possibly damaging |
Het |
| Zfp871 |
T |
A |
17: 32,994,618 (GRCm39) |
T167S |
probably benign |
Het |
| Zmat3 |
C |
T |
3: 32,395,680 (GRCm39) |
E276K |
probably damaging |
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 |
|
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 |
|
|
R5115:Mfn1
|
UTSW |
3 |
32,618,456 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation