Incidental Mutation 'IGL02743:Mfn1'
| ID |
305987 |
| 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 # |
IGL02743
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
32583614-32633388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32628439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 690
(H690L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091257]
[ENSMUST00000118286]
[ENSMUST00000151320]
|
| AlphaFold |
Q811U4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091257
AA Change: H690L
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: H690L
| 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
AA Change: H690L
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: H690L
| 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 |
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: ENSMUST00000195334
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambn |
A |
C |
5: 88,612,343 (GRCm39) |
D188A |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,270,054 (GRCm39) |
E365G |
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| AW554918 |
C |
T |
18: 25,423,001 (GRCm39) |
Q151* |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,802,183 (GRCm39) |
D2217G |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,984,115 (GRCm39) |
E166V |
probably damaging |
Het |
| Cyp4f15 |
T |
C |
17: 32,918,926 (GRCm39) |
S319P |
possibly damaging |
Het |
| Dna2 |
G |
A |
10: 62,792,821 (GRCm39) |
V279I |
possibly damaging |
Het |
| Edrf1 |
A |
G |
7: 133,258,220 (GRCm39) |
|
probably benign |
Het |
| Fmo3 |
A |
T |
1: 162,786,052 (GRCm39) |
F313I |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,221 (GRCm39) |
D245G |
possibly damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,818,661 (GRCm39) |
|
probably null |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4a |
T |
G |
7: 26,159,240 (GRCm39) |
|
probably benign |
Het |
| Or2t44 |
T |
A |
11: 58,677,606 (GRCm39) |
L182* |
probably null |
Het |
| Or4d10b |
A |
G |
19: 12,036,811 (GRCm39) |
F102L |
probably damaging |
Het |
| Or4k45 |
T |
A |
2: 111,394,888 (GRCm39) |
R300S |
possibly damaging |
Het |
| Or51f5 |
T |
A |
7: 102,424,505 (GRCm39) |
I258N |
probably damaging |
Het |
| Or52n2c |
T |
C |
7: 104,574,075 (GRCm39) |
T299A |
probably damaging |
Het |
| Or8g35 |
G |
A |
9: 39,381,542 (GRCm39) |
T160I |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,285 (GRCm39) |
V298I |
possibly damaging |
Het |
| Prrc2b |
C |
T |
2: 32,084,441 (GRCm39) |
S302F |
probably damaging |
Het |
| Serpine2 |
A |
T |
1: 79,779,272 (GRCm39) |
F149I |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,930,154 (GRCm39) |
L485P |
probably damaging |
Het |
| Spg11 |
T |
A |
2: 121,889,988 (GRCm39) |
H2118L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stxbp1 |
T |
C |
2: 32,709,913 (GRCm39) |
D60G |
probably damaging |
Het |
| Themis2 |
T |
A |
4: 132,510,795 (GRCm39) |
E582D |
probably benign |
Het |
| Tmem131 |
T |
G |
1: 36,832,232 (GRCm39) |
I1802L |
probably benign |
Het |
| Tnrc6a |
A |
G |
7: 122,770,696 (GRCm39) |
K829E |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,575,943 (GRCm39) |
M213T |
probably damaging |
Het |
| Wnk2 |
A |
G |
13: 49,248,920 (GRCm39) |
V377A |
probably damaging |
Het |
| Wwox |
T |
G |
8: 116,078,443 (GRCm39) |
Y375D |
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 |
|
IGL01687:Mfn1
|
APN |
3 |
32,617,515 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation