Incidental Mutation 'IGL03236:Mfn2'
| ID |
414056 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mfn2
|
| Ensembl Gene |
ENSMUSG00000029020 |
| Gene Name |
mitofusin 2 |
| Synonyms |
hypertension related protein 1, Fzo, D630023P19Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03236
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
147958056-147989161 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 147966562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 543
(F543S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030884]
[ENSMUST00000105714]
[ENSMUST00000105715]
[ENSMUST00000105716]
|
| AlphaFold |
Q80U63 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030884
AA Change: F543S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030884
Gene: ENSMUSG00000029020
AA Change: F543S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
98 |
258 |
3.8e-6 |
PFAM |
|
Pfam:Dynamin_N
|
99 |
259 |
2e-24 |
PFAM |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
coiled coil region
|
406 |
433 |
N/A |
INTRINSIC |
|
Pfam:Fzo_mitofusin
|
594 |
754 |
1.6e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105714
AA Change: F543S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101339
Gene: ENSMUSG00000029020
AA Change: F543S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
98 |
258 |
6.1e-7 |
PFAM |
|
Pfam:Dynamin_N
|
99 |
259 |
3.6e-25 |
PFAM |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
coiled coil region
|
406 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105715
AA Change: F543S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101340
Gene: ENSMUSG00000029020
AA Change: F543S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
98 |
258 |
9e-7 |
PFAM |
|
Pfam:Dynamin_N
|
99 |
259 |
5.4e-25 |
PFAM |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
coiled coil region
|
406 |
433 |
N/A |
INTRINSIC |
|
Pfam:Fzo_mitofusin
|
586 |
756 |
3.9e-86 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105716
AA Change: F543S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101341
Gene: ENSMUSG00000029020
AA Change: F543S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
98 |
258 |
9e-7 |
PFAM |
|
Pfam:Dynamin_N
|
99 |
259 |
5.4e-25 |
PFAM |
|
low complexity region
|
336 |
347 |
N/A |
INTRINSIC |
|
coiled coil region
|
406 |
433 |
N/A |
INTRINSIC |
|
Pfam:Fzo_mitofusin
|
586 |
756 |
3.9e-86 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124646
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,246,486 (GRCm39) |
T11A |
probably benign |
Het |
| Abca17 |
A |
G |
17: 24,545,450 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
G |
T |
1: 58,349,156 (GRCm39) |
E641* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,338,671 (GRCm39) |
D30E |
probably damaging |
Het |
| Arhgef37 |
A |
T |
18: 61,656,897 (GRCm39) |
I56N |
probably damaging |
Het |
| Cwf19l1 |
T |
C |
19: 44,115,887 (GRCm39) |
I181V |
probably benign |
Het |
| Dnai2 |
A |
G |
11: 114,648,075 (GRCm39) |
|
probably benign |
Het |
| Elp2 |
A |
G |
18: 24,755,300 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
G |
A |
18: 33,943,272 (GRCm39) |
S541L |
probably damaging |
Het |
| Ibsp |
A |
C |
5: 104,453,871 (GRCm39) |
N70H |
probably benign |
Het |
| Ikzf1 |
A |
G |
11: 11,657,848 (GRCm39) |
E35G |
probably damaging |
Het |
| Kdm5a |
T |
C |
6: 120,415,949 (GRCm39) |
V1623A |
probably damaging |
Het |
| Kpna7 |
A |
T |
5: 144,922,504 (GRCm39) |
V499E |
unknown |
Het |
| Krtap4-16 |
C |
A |
11: 99,741,962 (GRCm39) |
R146L |
unknown |
Het |
| Map2k5 |
T |
A |
9: 63,193,674 (GRCm39) |
|
probably benign |
Het |
| Mical3 |
A |
G |
6: 120,946,345 (GRCm39) |
L1052P |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,536,134 (GRCm39) |
N272S |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,732,976 (GRCm39) |
Y87H |
probably benign |
Het |
| Ndnf |
G |
A |
6: 65,673,156 (GRCm39) |
V45M |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,619,444 (GRCm39) |
I281T |
probably benign |
Het |
| Ntm |
A |
G |
9: 29,020,802 (GRCm39) |
V139A |
probably benign |
Het |
| Or5ac23 |
A |
C |
16: 59,149,200 (GRCm39) |
V224G |
probably damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,445,222 (GRCm39) |
V3698G |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,188,226 (GRCm39) |
Y773C |
probably damaging |
Het |
| Prkaca |
T |
A |
8: 84,717,074 (GRCm39) |
F138Y |
probably damaging |
Het |
| Qser1 |
T |
C |
2: 104,616,877 (GRCm39) |
T1312A |
probably benign |
Het |
| Slc47a2 |
T |
C |
11: 61,204,505 (GRCm39) |
E282G |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,698,425 (GRCm39) |
T1117I |
possibly damaging |
Het |
| Utp6 |
A |
G |
11: 79,851,567 (GRCm39) |
|
probably benign |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,990 (GRCm39) |
K14N |
probably damaging |
Het |
| Vmn1r71 |
A |
T |
7: 10,482,211 (GRCm39) |
V93E |
probably benign |
Het |
| Zfp768 |
G |
A |
7: 126,943,142 (GRCm39) |
L329F |
possibly damaging |
Het |
|
| Other mutations in Mfn2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Mfn2
|
APN |
4 |
147,969,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
milkshake
|
UTSW |
4 |
147,971,909 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0066:Mfn2
|
UTSW |
4 |
147,969,902 (GRCm39) |
unclassified |
probably benign |
|
|
R0066:Mfn2
|
UTSW |
4 |
147,969,902 (GRCm39) |
unclassified |
probably benign |
|
|
R0326:Mfn2
|
UTSW |
4 |
147,967,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0376:Mfn2
|
UTSW |
4 |
147,969,983 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0564:Mfn2
|
UTSW |
4 |
147,967,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Mfn2
|
UTSW |
4 |
147,966,658 (GRCm39) |
missense |
probably benign |
|
|
R1595:Mfn2
|
UTSW |
4 |
147,979,153 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2105:Mfn2
|
UTSW |
4 |
147,973,162 (GRCm39) |
nonsense |
probably null |
|
|
R2260:Mfn2
|
UTSW |
4 |
147,979,063 (GRCm39) |
nonsense |
probably null |
|
|
R4544:Mfn2
|
UTSW |
4 |
147,971,909 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4546:Mfn2
|
UTSW |
4 |
147,971,909 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4561:Mfn2
|
UTSW |
4 |
147,961,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Mfn2
|
UTSW |
4 |
147,970,785 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5355:Mfn2
|
UTSW |
4 |
147,979,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Mfn2
|
UTSW |
4 |
147,979,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8309:Mfn2
|
UTSW |
4 |
147,974,693 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9345:Mfn2
|
UTSW |
4 |
147,966,649 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Posted On |
2016-08-02 |
Incidental Mutation