Incidental Mutation 'IGL00545:Marchf5'
| ID |
12721 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Marchf5
|
| Ensembl Gene |
ENSMUSG00000023307 |
| Gene Name |
membrane associated ring-CH-type finger 5 |
| Synonyms |
2310008I22Rik, MARCH-V, 2700055A20Rik, E130202O05Rik, March5, 5730499H23Rik, Rnf153, MITOL, 1810015H18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
IGL00545
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
37184942-37199550 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37194624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 94
(S94L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024078]
[ENSMUST00000112391]
|
| AlphaFold |
Q3KNM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024078
AA Change: S94L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000024078
Gene: ENSMUSG00000023307
AA Change: S94L
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
13 |
69 |
3.53e-23 |
SMART |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
209 |
228 |
N/A |
INTRINSIC |
|
transmembrane domain
|
238 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112391
AA Change: S94L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000108010
Gene: ENSMUSG00000023307
AA Change: S94L
| Domain | Start | End | E-Value | Type |
|---|
|
RINGv
|
13 |
69 |
3.53e-23 |
SMART |
|
transmembrane domain
|
97 |
119 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
209 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000128530
AA Change: S12L
|
| SMART Domains |
Protein: ENSMUSP00000118920
Gene: ENSMUSG00000023307
AA Change: S12L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
58 |
80 |
N/A |
INTRINSIC |
|
transmembrane domain
|
118 |
137 |
N/A |
INTRINSIC |
|
transmembrane domain
|
147 |
165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148105
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH5 is a ubiquitin ligase of the mitochondrial outer membrane that plays a role in the control of mitochondrial morphology by regulating mitofusin-2 (MFN2; MIM 608507) and DRP1 (DNM1L; MIM 603850) (Nakamura et al., 2006 [PubMed 16936636]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,105,227 (GRCm39) |
N139K |
possibly damaging |
Het |
| Ano10 |
A |
G |
9: 122,090,422 (GRCm39) |
V105A |
possibly damaging |
Het |
| Cep44 |
A |
T |
8: 57,000,435 (GRCm39) |
V26E |
probably damaging |
Het |
| Cpne8 |
A |
G |
15: 90,424,462 (GRCm39) |
V309A |
probably benign |
Het |
| Dnah7a |
A |
G |
1: 53,496,905 (GRCm39) |
I3117T |
possibly damaging |
Het |
| Efna1 |
T |
A |
3: 89,180,123 (GRCm39) |
N91I |
probably benign |
Het |
| Golph3 |
G |
A |
15: 12,339,757 (GRCm39) |
R90H |
probably damaging |
Het |
| Hps3 |
G |
T |
3: 20,073,971 (GRCm39) |
L332I |
possibly damaging |
Het |
| Mrpl46 |
T |
A |
7: 78,432,724 (GRCm39) |
Q18L |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,708,542 (GRCm39) |
V741A |
probably benign |
Het |
| Nlrp2 |
C |
T |
7: 5,331,251 (GRCm39) |
A382T |
possibly damaging |
Het |
| Pdgfd |
C |
T |
9: 6,288,621 (GRCm39) |
Q92* |
probably null |
Het |
| Ubxn4 |
A |
G |
1: 128,187,202 (GRCm39) |
D65G |
possibly damaging |
Het |
| Zfp119b |
A |
C |
17: 56,246,270 (GRCm39) |
H305Q |
probably damaging |
Het |
|
| Other mutations in Marchf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01537:Marchf5
|
APN |
19 |
37,188,067 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02142:Marchf5
|
APN |
19 |
37,197,892 (GRCm39) |
splice site |
probably benign |
|
|
IGL02469:Marchf5
|
APN |
19 |
37,194,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02637:Marchf5
|
APN |
19 |
37,198,033 (GRCm39) |
intron |
probably benign |
|
|
volatile
|
UTSW |
19 |
37,194,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0635:Marchf5
|
UTSW |
19 |
37,197,807 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4573:Marchf5
|
UTSW |
19 |
37,197,793 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5073:Marchf5
|
UTSW |
19 |
37,188,207 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6198:Marchf5
|
UTSW |
19 |
37,188,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6264:Marchf5
|
UTSW |
19 |
37,198,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7232:Marchf5
|
UTSW |
19 |
37,194,713 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7716:Marchf5
|
UTSW |
19 |
37,197,822 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8217:Marchf5
|
UTSW |
19 |
37,185,210 (GRCm39) |
unclassified |
probably benign |
|
|
R9354:Marchf5
|
UTSW |
19 |
37,185,264 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation