Incidental Mutation 'IGL01537:Marchf5'
| ID |
90025 |
| 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: 0.951)
|
| Stock # |
IGL01537
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
37184942-37199550 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 37188067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116309
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024078]
[ENSMUST00000079754]
[ENSMUST00000112391]
[ENSMUST00000126188]
[ENSMUST00000126781]
[ENSMUST00000131917]
[ENSMUST00000132580]
[ENSMUST00000136286]
|
| AlphaFold |
Q3KNM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024078
|
| SMART Domains |
Protein: ENSMUSP00000024078
Gene: ENSMUSG00000023307
| 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: ENSMUST00000079754
|
| SMART Domains |
Protein: ENSMUSP00000078690
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
RRM
|
460 |
532 |
2.01e-5 |
SMART |
|
RRM
|
568 |
641 |
1e-2 |
SMART |
|
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112391
|
| SMART Domains |
Protein: ENSMUSP00000108010
Gene: ENSMUSG00000023307
| 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 |
probably benign
Transcript: ENSMUST00000126188
|
| SMART Domains |
Protein: ENSMUSP00000120416
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
RRM
|
437 |
509 |
2.01e-5 |
SMART |
|
RRM
|
545 |
618 |
1e-2 |
SMART |
|
PDB:2M13|A
|
619 |
684 |
1e-6 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126781
|
| SMART Domains |
Protein: ENSMUSP00000122442
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
397 |
N/A |
INTRINSIC |
|
RRM
|
437 |
509 |
8.3e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131917
|
| SMART Domains |
Protein: ENSMUSP00000123080
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132580
|
| SMART Domains |
Protein: ENSMUSP00000118723
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
low complexity region
|
410 |
420 |
N/A |
INTRINSIC |
|
RRM
|
460 |
532 |
2.01e-5 |
SMART |
|
RRM
|
568 |
641 |
1e-2 |
SMART |
|
PDB:2M13|A
|
642 |
707 |
1e-6 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148105
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136286
|
| SMART Domains |
Protein: ENSMUSP00000116309
Gene: ENSMUSG00000039652
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
210 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
283 |
N/A |
INTRINSIC |
|
RRM
|
443 |
515 |
2.01e-5 |
SMART |
|
RRM
|
551 |
624 |
1e-2 |
SMART |
|
PDB:2M13|A
|
625 |
690 |
1e-6 |
PDB |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn1l |
T |
C |
8: 110,459,312 (GRCm39) |
R317G |
probably benign |
Het |
| B130006D01Rik |
T |
A |
11: 95,616,992 (GRCm39) |
|
probably benign |
Het |
| Brinp2 |
T |
C |
1: 158,074,379 (GRCm39) |
T581A |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,548,540 (GRCm39) |
I1179N |
probably damaging |
Het |
| Cacnb3 |
A |
G |
15: 98,541,301 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,847,341 (GRCm39) |
T423A |
possibly damaging |
Het |
| Chkb |
C |
T |
15: 89,311,986 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,071,913 (GRCm39) |
Y623H |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,408,559 (GRCm39) |
R918C |
possibly damaging |
Het |
| Dnah2 |
T |
A |
11: 69,406,906 (GRCm39) |
M200L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,838,506 (GRCm39) |
H3097L |
probably benign |
Het |
| Dst |
T |
A |
1: 34,314,401 (GRCm39) |
L4217H |
probably damaging |
Het |
| Fam107b |
T |
A |
2: 3,779,565 (GRCm39) |
L80Q |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,045,595 (GRCm39) |
C55S |
probably damaging |
Het |
| Igkv4-71 |
C |
A |
6: 69,220,264 (GRCm39) |
G78* |
probably null |
Het |
| Igsf10 |
A |
G |
3: 59,237,452 (GRCm39) |
S910P |
probably benign |
Het |
| Ikzf3 |
T |
C |
11: 98,407,718 (GRCm39) |
D41G |
probably damaging |
Het |
| Larp1 |
T |
A |
11: 57,933,648 (GRCm39) |
I358N |
possibly damaging |
Het |
| Mpdz |
T |
C |
4: 81,287,895 (GRCm39) |
T455A |
probably damaging |
Het |
| Myo1b |
A |
G |
1: 51,815,510 (GRCm39) |
V612A |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,380,023 (GRCm39) |
D923G |
probably benign |
Het |
| Nlrp4b |
T |
C |
7: 10,448,918 (GRCm39) |
F7L |
probably damaging |
Het |
| Npas4 |
T |
C |
19: 5,037,355 (GRCm39) |
N313S |
possibly damaging |
Het |
| Nynrin |
T |
A |
14: 56,109,502 (GRCm39) |
N1536K |
possibly damaging |
Het |
| Or10d5 |
T |
A |
9: 39,861,921 (GRCm39) |
T49S |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,751 (GRCm39) |
N67D |
probably damaging |
Het |
| Or4c107 |
T |
C |
2: 88,788,885 (GRCm39) |
V25A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,589,647 (GRCm39) |
V649A |
unknown |
Het |
| Pom121 |
A |
G |
5: 135,421,389 (GRCm39) |
|
probably benign |
Het |
| Ptcd2 |
A |
T |
13: 99,466,521 (GRCm39) |
I224N |
possibly damaging |
Het |
| Rsrp1 |
C |
T |
4: 134,651,290 (GRCm39) |
P18L |
unknown |
Het |
| Sash1 |
A |
T |
10: 8,605,422 (GRCm39) |
N989K |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,219 (GRCm39) |
H927Q |
probably benign |
Het |
| Selenoi |
G |
T |
5: 30,461,222 (GRCm39) |
V128F |
probably damaging |
Het |
| Slc25a42 |
T |
C |
8: 70,642,092 (GRCm39) |
I117V |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,195,558 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
A |
T |
2: 139,431,615 (GRCm39) |
Y379F |
possibly damaging |
Het |
| Tent4a |
A |
T |
13: 69,648,678 (GRCm39) |
S693T |
probably benign |
Het |
| Tinag |
C |
T |
9: 76,952,885 (GRCm39) |
R33K |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 20,968,061 (GRCm39) |
D1092G |
probably benign |
Het |
| Xntrpc |
A |
G |
7: 101,722,401 (GRCm39) |
E22G |
probably damaging |
Het |
| Zbtb7b |
A |
G |
3: 89,287,278 (GRCm39) |
M397T |
possibly damaging |
Het |
| Zgpat |
A |
G |
2: 181,020,682 (GRCm39) |
D285G |
probably benign |
Het |
|
| Other mutations in Marchf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00545:Marchf5
|
APN |
19 |
37,194,624 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-12-03 |
Incidental Mutation