Incidental Mutation 'R6560:Mfn1'
| ID |
521982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mfn1
|
| Ensembl Gene |
ENSMUSG00000027668 |
| Gene Name |
mitofusin 1 |
| Synonyms |
D3Ertd265e, 6330416C07Rik, HR2, 2310002F04Rik |
| MMRRC Submission |
044684-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6560 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
32583614-32633388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32623665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 263
(I263T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120960
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091257]
[ENSMUST00000118286]
[ENSMUST00000151320]
|
| AlphaFold |
Q811U4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091257
AA Change: I615T
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000088801
Gene: ENSMUSG00000027668
AA Change: I615T
| 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 |
possibly damaging
Transcript: ENSMUST00000118286
AA Change: I615T
PolyPhen 2
Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113251
Gene: ENSMUSG00000027668
AA Change: I615T
| 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 damaging
Transcript: ENSMUST00000151320
AA Change: I263T
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120960
Gene: ENSMUSG00000027668
AA Change: I263T
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,843,230 (GRCm39) |
L1235Q |
probably damaging |
Het |
| Acin1 |
T |
C |
14: 54,916,290 (GRCm39) |
T174A |
probably benign |
Het |
| Adamtsl1 |
G |
A |
4: 86,255,130 (GRCm39) |
R733H |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Arsk |
A |
T |
13: 76,223,105 (GRCm39) |
I164N |
probably benign |
Het |
| Bbs5 |
T |
A |
2: 69,487,300 (GRCm39) |
N194K |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,723,119 (GRCm39) |
T133A |
possibly damaging |
Het |
| Card6 |
G |
A |
15: 5,128,367 (GRCm39) |
P1010S |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,339,790 (GRCm39) |
N778K |
probably benign |
Het |
| Cept1 |
T |
C |
3: 106,412,594 (GRCm39) |
I240V |
possibly damaging |
Het |
| Crip3 |
A |
G |
17: 46,741,962 (GRCm39) |
R150G |
probably damaging |
Het |
| Cyp2c50 |
A |
G |
19: 40,085,299 (GRCm39) |
T320A |
probably benign |
Het |
| Dio2 |
G |
C |
12: 90,696,607 (GRCm39) |
S127* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,801,161 (GRCm39) |
E99G |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,626,935 (GRCm39) |
S325G |
probably benign |
Het |
| Exosc4 |
A |
G |
15: 76,211,813 (GRCm39) |
I41V |
probably benign |
Het |
| Glb1l3 |
C |
T |
9: 26,739,720 (GRCm39) |
|
probably null |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gm3072 |
T |
A |
14: 41,345,510 (GRCm39) |
D89V |
unknown |
Het |
| Gosr2 |
T |
C |
11: 103,577,508 (GRCm39) |
H79R |
probably damaging |
Het |
| Has2 |
T |
A |
15: 56,531,660 (GRCm39) |
T352S |
probably damaging |
Het |
| Insig1 |
T |
A |
5: 28,276,531 (GRCm39) |
C32* |
probably null |
Het |
| Klf9 |
A |
G |
19: 23,119,314 (GRCm39) |
S66G |
probably damaging |
Het |
| Myl2 |
G |
A |
5: 122,240,834 (GRCm39) |
G38R |
probably null |
Het |
| Negr1 |
A |
G |
3: 157,018,494 (GRCm39) |
T332A |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,787,884 (GRCm39) |
S1417P |
possibly damaging |
Het |
| Or52ab4 |
T |
C |
7: 102,987,945 (GRCm39) |
F228S |
probably benign |
Het |
| Or7e168 |
G |
A |
9: 19,720,412 (GRCm39) |
S266N |
probably benign |
Het |
| Pcgf3 |
C |
A |
5: 108,621,768 (GRCm39) |
H35Q |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,465,639 (GRCm39) |
I297V |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,192,613 (GRCm39) |
V783M |
probably damaging |
Het |
| Prx |
A |
T |
7: 27,214,746 (GRCm39) |
Q85H |
probably damaging |
Het |
| Tex14 |
T |
G |
11: 87,388,688 (GRCm39) |
M305R |
possibly damaging |
Het |
| Ythdc1 |
T |
C |
5: 86,964,467 (GRCm39) |
V92A |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,954 (GRCm39) |
E995K |
probably damaging |
Het |
| Zfp90 |
A |
G |
8: 107,142,379 (GRCm39) |
R4G |
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 |
|
|
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 |
|
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'- AAGAGGGAGCTTGCTTCAGC -3'
(R):5'- CACTTACTGCTGTACTTGGTGGC -3'
Sequencing Primer
(F):5'- TGTGAAAGCCCATCCTGATG -3'
(R):5'- CTGTACTTGGTGGCTGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation