Mutagenetix > Incidental Mutation

Incidental Mutation 'R7272:Marchf3'

565379

Institutional Source

Beutler Lab

Gene Symbol

Marchf3

Ensembl Gene

ENSMUSG00000032656

Gene Name

membrane associated ring-CH-type finger 3

Synonyms

March3, A530081L18Rik, 6330411I15Rik

MMRRC Submission

045391-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R7272 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56894788-57058587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 56895593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 217 (R217S)

Ref Sequence

ENSEMBL: ENSMUSP00000099976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102912]

AlphaFold

Q8BRX9

Predicted Effect

probably benign
Transcript: ENSMUST00000102912
AA Change: R217S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: R217S

Domain	Start	End	E-Value	Type
RINGv	70	117	1.02e-19	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	182	201	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,471,655 (GRCm39)	I1020T	probably benign	Het
2310057N15Rik	A	T	16: 88,570,523 (GRCm39)	Y172*	probably null	Het
4930558K02Rik	T	A	1: 161,770,092 (GRCm39)	Y139F	possibly damaging	Het
A830018L16Rik	T	G	1: 11,658,695 (GRCm39)	M202R	probably damaging	Het
Abca12	T	C	1: 71,287,591 (GRCm39)	E2450G	probably damaging	Het
Ank2	C	T	3: 126,736,782 (GRCm39)	R3034H	unknown	Het
Anxa9	A	G	3: 95,213,184 (GRCm39)	I54T	probably damaging	Het
Ash1l	A	G	3: 88,961,941 (GRCm39)		probably null	Het
Aspm	T	C	1: 139,386,066 (GRCm39)	I570T	probably benign	Het
Bcar3	A	T	3: 122,302,045 (GRCm39)	I247F	possibly damaging	Het
Cep350	A	G	1: 155,829,334 (GRCm39)	V130A	probably damaging	Het
Cep89	A	T	7: 35,137,888 (GRCm39)	R757S	probably benign	Het
Cryga	A	T	1: 65,142,381 (GRCm39)	I4N	probably damaging	Het
Cyp2d26	T	A	15: 82,676,764 (GRCm39)	Y194F	probably benign	Het
Edn2	G	A	4: 120,019,143 (GRCm39)	R44H	probably damaging	Het
Ep400	G	A	5: 110,903,511 (GRCm39)	Q363*	probably null	Het
Gpr33	T	C	12: 52,070,848 (GRCm39)	T64A	probably damaging	Het
Ice2	T	A	9: 69,324,365 (GRCm39)	S763T	possibly damaging	Het
Itgad	C	A	7: 127,804,245 (GRCm39)	F1169L	probably damaging	Het
Kcnv1	A	G	15: 44,976,576 (GRCm39)	L237P	probably benign	Het
Kctd18	T	C	1: 57,995,710 (GRCm39)	E356G	probably damaging	Het
Krt33a	C	T	11: 99,902,837 (GRCm39)	R329Q	probably damaging	Het
Lama2	C	A	10: 27,000,552 (GRCm39)	G1657C	probably damaging	Het
Mmel1	A	T	4: 154,978,547 (GRCm39)	T660S	probably damaging	Het
Ms4a7	T	A	19: 11,310,642 (GRCm39)	K59*	probably null	Het
Mss51	G	A	14: 20,534,981 (GRCm39)	T263I	probably damaging	Het
Ncaph2	A	G	15: 89,248,385 (GRCm39)	M199V	probably benign	Het
Ndufa4	G	A	6: 11,905,209 (GRCm39)	Q62*	probably null	Het
Nectin4	A	G	1: 171,214,212 (GRCm39)	T456A	probably damaging	Het
Nek1	T	C	8: 61,578,120 (GRCm39)	M1214T	probably benign	Het
Nsf	T	A	11: 103,718,064 (GRCm39)	L710F	probably damaging	Het
Nynrin	G	T	14: 56,107,872 (GRCm39)	G993V	probably damaging	Het
Or1e31	T	A	11: 73,689,695 (GRCm39)	D296V	probably damaging	Het
Pbk	T	A	14: 66,052,621 (GRCm39)	Y155N	probably damaging	Het
Plec	T	C	15: 76,059,153 (GRCm39)	I3595V	possibly damaging	Het
Pom121	G	A	5: 135,409,941 (GRCm39)	T1072I	unknown	Het
Sdc1	T	A	12: 8,840,554 (GRCm39)	H106Q	probably benign	Het
Slc44a3	T	C	3: 121,254,764 (GRCm39)	D618G	probably damaging	Het
Slc9c1	A	G	16: 45,401,878 (GRCm39)	D755G	possibly damaging	Het
Slfn9	T	C	11: 82,872,387 (GRCm39)	Y783C	probably benign	Het
Sorl1	C	T	9: 41,975,006 (GRCm39)		probably null	Het
Spindoc	C	T	19: 7,360,085 (GRCm39)	E28K	possibly damaging	Het
Sptbn1	T	C	11: 30,064,859 (GRCm39)	D1880G	possibly damaging	Het
Sspn	T	A	6: 145,907,200 (GRCm39)	D210E	probably benign	Het
Stx12	A	T	4: 132,584,687 (GRCm39)	I219K	possibly damaging	Het
Syne2	T	C	12: 76,095,417 (GRCm39)	V508A	probably benign	Het
Tkt	G	T	14: 30,287,564 (GRCm39)	R186L	probably damaging	Het
Trmt10a	T	A	3: 137,860,527 (GRCm39)	M241K	probably damaging	Het
Vgll2	C	A	10: 51,903,758 (GRCm39)	A207E	possibly damaging	Het
Vmn1r114	A	G	7: 20,545,543 (GRCm39)	F190S	probably damaging	Het
Xpot	C	T	10: 121,453,094 (GRCm39)		probably null	Het
Yrdc	G	A	4: 124,744,820 (GRCm39)	A85T	probably benign	Het
Zfp385c	C	T	11: 100,520,865 (GRCm39)	R265K	possibly damaging	Het
Zgrf1	A	T	3: 127,392,409 (GRCm39)	I1310F	probably damaging	Het

Other mutations in Marchf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:Marchf3	APN	18	56,940,753 (GRCm39)	missense	probably benign	0.24
R0625:Marchf3	UTSW	18	56,944,902 (GRCm39)	critical splice donor site	probably null
R0990:Marchf3	UTSW	18	56,940,870 (GRCm39)	missense	probably damaging	1.00
R1353:Marchf3	UTSW	18	56,909,177 (GRCm39)	splice site	probably null
R1653:Marchf3	UTSW	18	56,944,967 (GRCm39)	missense	probably benign	0.00
R2072:Marchf3	UTSW	18	56,944,925 (GRCm39)	missense	possibly damaging	0.88
R4746:Marchf3	UTSW	18	56,909,144 (GRCm39)	missense	probably damaging	1.00
R4771:Marchf3	UTSW	18	56,916,170 (GRCm39)	missense	probably benign	0.19
R6956:Marchf3	UTSW	18	56,909,053 (GRCm39)	missense	probably benign	0.01
R7152:Marchf3	UTSW	18	56,909,053 (GRCm39)	missense	probably benign	0.01
R7202:Marchf3	UTSW	18	56,909,161 (GRCm39)	missense	probably benign	0.02
R7813:Marchf3	UTSW	18	56,916,163 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGTCAGCCTCGTCACATC -3'
(R):5'- CTCTCAGTGGTGTACGTGAG -3'

Sequencing Primer
(F):5'- AAGACACAGGGTTGCCTTTTTAGC -3'
(R):5'- GTGAGGGGGAGGGGCTC -3'

Posted On

2019-06-26