Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02469:Marchf5'

294658

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) question?

Stock #

IGL02469

Quality Score

Status

Chromosome

Chromosomal Location

37184942-37199550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37194674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 111 (W111G)

Ref Sequence

ENSEMBL: ENSMUSP00000024078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024078] [ENSMUST00000112391]

AlphaFold

Q3KNM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000024078
AA Change: W111G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000024078
Gene: ENSMUSG00000023307
AA Change: W111G

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 damaging
Transcript: ENSMUST00000112391
AA Change: W111G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108010
Gene: ENSMUSG00000023307
AA Change: W111G

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: W29G

SMART Domains

Protein: ENSMUSP00000118920
Gene: ENSMUSG00000023307
AA Change: W29G

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,645,074 (GRCm39)	Q975L	probably damaging	Het
Acad10	T	C	5: 121,783,522 (GRCm39)	Y301C	probably damaging	Het
Akr7a5	T	A	4: 139,041,492 (GRCm39)	S134T	probably damaging	Het
Aldh4a1	C	T	4: 139,375,472 (GRCm39)	T527I	probably damaging	Het
Atf2	A	G	2: 73,676,676 (GRCm39)	V146A	probably damaging	Het
C2cd6	A	T	1: 59,036,640 (GRCm39)		probably benign	Het
Caml	T	C	13: 55,776,390 (GRCm39)	S210P	probably damaging	Het
Casp1	A	C	9: 5,303,105 (GRCm39)	R186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr1	T	A	14: 36,807,557 (GRCm39)	Q361L	possibly damaging	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Commd6	A	G	14: 101,874,463 (GRCm39)	V47A	probably damaging	Het
Dmrtc2	T	C	7: 24,572,138 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,863,215 (GRCm39)	D721G	probably damaging	Het
Dpp10	T	C	1: 123,339,532 (GRCm39)	S332G	probably benign	Het
Dst	A	G	1: 34,227,909 (GRCm39)	E1834G	probably damaging	Het
Espl1	T	A	15: 102,222,460 (GRCm39)	L1034Q	probably damaging	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Hyal2	T	C	9: 107,449,411 (GRCm39)	L389P	probably damaging	Het
Lipa	T	C	19: 34,471,435 (GRCm39)	D380G	probably damaging	Het
Or8h7	T	C	2: 86,721,499 (GRCm39)	T7A	possibly damaging	Het
Pfkfb2	A	T	1: 130,627,774 (GRCm39)	I391N	probably damaging	Het
Sec31a	T	C	5: 100,533,114 (GRCm39)	S544G	probably benign	Het
Slc26a9	A	G	1: 131,690,674 (GRCm39)	K530E	probably damaging	Het
Spaca3	G	A	11: 80,754,911 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,920,565 (GRCm39)	S544G	probably benign	Het
Tctn3	T	C	19: 40,585,967 (GRCm39)	E526G	probably benign	Het
Tll1	A	T	8: 64,523,314 (GRCm39)	I466K	probably benign	Het
Ttbk1	A	G	17: 46,781,556 (GRCm39)	V399A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,435 (GRCm39)	L189P	probably damaging	Het
Vmn2r100	T	A	17: 19,751,547 (GRCm39)	L530*	probably null	Het
Yipf3	T	C	17: 46,561,384 (GRCm39)		probably null	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
IGL01537:Marchf5	APN	19	37,188,067 (GRCm39)	unclassified	probably benign
IGL02142:Marchf5	APN	19	37,197,892 (GRCm39)	splice site	probably benign
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

2015-04-16