Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:Marchf5'

503077

Institutional Source

Beutler Lab

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

MMRRC Submission

044338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37184942-37199550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37188140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 36 (R36G)

Ref Sequence

ENSEMBL: ENSMUSP00000108010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024078] [ENSMUST00000079754] [ENSMUST00000112391] [ENSMUST00000126188] [ENSMUST00000126781] [ENSMUST00000131917] [ENSMUST00000132580] [ENSMUST00000136286]

AlphaFold

Q3KNM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000024078
AA Change: R36G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024078
Gene: ENSMUSG00000023307
AA Change: R36G

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 damaging
Transcript: ENSMUST00000112391
AA Change: R36G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108010
Gene: ENSMUSG00000023307
AA Change: R36G

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148105

Meta Mutation Damage Score

0.4433

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,499 (GRCm39)		probably null	Het
2610318N02Rik	A	G	16: 16,936,233 (GRCm39)	S164P	probably damaging	Het
Acsbg3	A	G	17: 57,189,679 (GRCm39)	S265G	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	A	C	11: 46,012,329 (GRCm39)	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,597,556 (GRCm39)	T84S	possibly damaging	Het
Asl	C	T	5: 130,047,757 (GRCm39)	V70I	probably benign	Het
Atp2c1	A	G	9: 105,398,271 (GRCm39)	S26P	probably benign	Het
Bcas3	A	T	11: 85,400,261 (GRCm39)	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,225,581 (GRCm39)		probably null	Het
Cfh	A	G	1: 140,033,178 (GRCm39)	S789P	probably damaging	Het
Cltc	T	C	11: 86,611,188 (GRCm39)	N561S	probably benign	Het
Cnst	A	G	1: 179,420,430 (GRCm39)	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,177,273 (GRCm39)	T422A	probably benign	Het
Cyp2c55	A	T	19: 38,995,565 (GRCm39)	R26*	probably null	Het
Dgkb	A	T	12: 38,223,822 (GRCm39)	M414L	probably benign	Het
Dgkd	A	G	1: 87,851,930 (GRCm39)	D444G	probably damaging	Het
Dipk1b	A	G	2: 26,525,710 (GRCm39)	K215E	probably damaging	Het
Dnmt3c	T	C	2: 153,561,929 (GRCm39)	V544A	noncoding transcript	Het
Dus3l	A	T	17: 57,074,858 (GRCm39)	T327S	possibly damaging	Het
Elf2	A	T	3: 51,184,670 (GRCm39)	L5Q	probably damaging	Het
Fxyd6	A	G	9: 45,301,968 (GRCm39)	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,128,412 (GRCm39)	T1375S	probably benign	Het
Git2	A	T	5: 114,883,556 (GRCm39)	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Golgb1	T	C	16: 36,713,757 (GRCm39)	L246P	probably damaging	Het
Grp	G	T	18: 66,013,057 (GRCm39)	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,751,648 (GRCm39)	M391K	probably damaging	Het
Itih2	A	G	2: 10,103,352 (GRCm39)	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,415,958 (GRCm39)	V1626E	probably benign	Het
Klhl40	A	G	9: 121,607,833 (GRCm39)	Y331C	probably damaging	Het
Kprp	T	A	3: 92,731,994 (GRCm39)	Y352F	probably damaging	Het
Lama2	G	T	10: 27,064,018 (GRCm39)	H1286Q	probably damaging	Het
Lgi4	T	A	7: 30,768,547 (GRCm39)		probably null	Het
Lrrc47	A	T	4: 154,100,129 (GRCm39)	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,366,650 (GRCm39)	I308F	probably damaging	Het
Map7d1	T	A	4: 126,135,636 (GRCm39)	K135M	probably damaging	Het
Mtx3	C	A	13: 92,989,359 (GRCm39)	P299Q	probably benign	Het
Muc21	T	A	17: 35,931,808 (GRCm39)		probably benign	Het
Ncapd2	C	A	6: 125,156,286 (GRCm39)	E500*	probably null	Het
Nckap5l	T	C	15: 99,323,869 (GRCm39)	K878R	probably damaging	Het
Nphs1	T	C	7: 30,167,340 (GRCm39)	I756T	probably damaging	Het
Olfm4	T	G	14: 80,237,813 (GRCm39)	S17A	probably benign	Het
Or1j15	A	G	2: 36,458,963 (GRCm39)	M118V	probably damaging	Het
Or4b1	A	T	2: 89,979,782 (GRCm39)	D189E	probably damaging	Het
Pak1ip1	G	T	13: 41,154,886 (GRCm39)	Q27H	probably benign	Het
Piezo2	A	T	18: 63,290,281 (GRCm39)	C159*	probably null	Het
Pkn2	G	T	3: 142,516,165 (GRCm39)	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,485,060 (GRCm39)	M198K	probably benign	Het
Rrm1	T	G	7: 102,095,936 (GRCm39)		probably null	Het
Setd3	T	C	12: 108,131,427 (GRCm39)	K7E	possibly damaging	Het
Shc1	A	G	3: 89,329,414 (GRCm39)	K86R	probably benign	Het
Slc16a7	T	C	10: 125,064,084 (GRCm39)	T418A	probably benign	Het
Spocd1	C	T	4: 129,849,208 (GRCm39)	P676S	probably damaging	Het
Spp1	A	G	5: 104,587,374 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,252,269 (GRCm39)	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,464,396 (GRCm39)	S42P	probably benign	Het
Tmem63b	C	T	17: 45,972,442 (GRCm39)	V722I	probably benign	Het
Ubqln1	A	G	13: 58,344,404 (GRCm39)	S130P	probably benign	Het
Usp34	G	T	11: 23,434,127 (GRCm39)	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,566,854 (GRCm39)	Y517C	probably damaging	Het
Vps13d	A	T	4: 144,875,560 (GRCm39)	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,675,278 (GRCm39)	S405P	probably damaging	Het
Zfp9	T	C	6: 118,454,282 (GRCm39)	M1V	probably null	Het
Zfp946	A	T	17: 22,673,896 (GRCm39)	S217C	probably damaging	Het
Zfp970	T	A	2: 177,167,253 (GRCm39)	C276S	probably damaging	Het
Zswim5	T	A	4: 116,735,204 (GRCm39)	F183Y	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCTACTGGAAATAGATTGGTTG -3'
(R):5'- AAGCTTTTAACTACGGGGACAC -3'

Sequencing Primer
(F):5'- TTTTACAGGACTTCTTCAATACTGC -3'
(R):5'- TTTTAACTACGGGGACACACACAC -3'

Posted On

2018-02-27