Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Marchf4'

634323

Institutional Source

Beutler Lab

Gene Symbol

Marchf4

Ensembl Gene

ENSMUSG00000039372

Gene Name

membrane associated ring-CH-type finger 4

Synonyms

March4

MMRRC Submission

067601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72466271-72576089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72573998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 100 (E100G)

Ref Sequence

ENSEMBL: ENSMUSP00000042803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047786]

AlphaFold

Q80TE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047786
AA Change: E100G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000042803
Gene: ENSMUSG00000039372
AA Change: E100G

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	52	62	N/A	INTRINSIC
low complexity region	79	94	N/A	INTRINSIC
low complexity region	102	112	N/A	INTRINSIC
low complexity region	125	135	N/A	INTRINSIC
RINGv	161	208	3.5e-18	SMART
transmembrane domain	235	257	N/A	INTRINSIC
Blast:AAA	263	290	4e-9	BLAST
low complexity region	344	360	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH4 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH4 reduces surface accumulation of several membrane glycoproteins by directing them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,235,135 (GRCm39)	F172I	noncoding transcript	Het
Aatk	A	G	11: 119,907,241 (GRCm39)	V154A	probably damaging	Het
Abca6	A	C	11: 110,135,020 (GRCm39)	V255G	probably benign	Het
Adam8	T	C	7: 139,568,786 (GRCm39)	K211E	probably benign	Het
Alg12	A	G	15: 88,690,084 (GRCm39)	V470A	possibly damaging	Het
Anks1b	C	A	10: 89,905,353 (GRCm39)	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,640,528 (GRCm39)	Y28C	probably damaging	Het
Bms1	G	T	6: 118,395,411 (GRCm39)	F45L	probably damaging	Het
Btd	T	A	14: 31,384,073 (GRCm39)	F20I	probably benign	Het
C1rl	T	C	6: 124,470,844 (GRCm39)	S51P	probably benign	Het
Capn7	C	A	14: 31,069,729 (GRCm39)	F184L	probably benign	Het
Cd300lg	A	T	11: 101,932,390 (GRCm39)		probably benign	Het
Cdc34	T	C	10: 79,518,362 (GRCm39)	Y39H	probably damaging	Het
Cenpe	A	G	3: 134,935,851 (GRCm39)	K429E	probably damaging	Het
Cfap43	T	C	19: 47,784,114 (GRCm39)	N473S	probably benign	Het
Cntln	C	T	4: 84,806,926 (GRCm39)	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,574,175 (GRCm39)	L1032F	probably benign	Het
Dach1	C	T	14: 98,153,916 (GRCm39)	V392I	probably benign	Het
Dnah14	C	T	1: 181,484,598 (GRCm39)	S1590L	probably damaging	Het
Dsp	T	C	13: 38,376,786 (GRCm39)	Y1524H	possibly damaging	Het
Dusp13b	T	C	14: 21,797,549 (GRCm39)	I103V	possibly damaging	Het
Eeig1	A	G	2: 32,453,624 (GRCm39)	T158A	probably benign	Het
Efhb	T	C	17: 53,707,874 (GRCm39)	Y763C	probably damaging	Het
Fam117a	G	T	11: 95,227,965 (GRCm39)	R25L	unknown	Het
Fcgbp	T	C	7: 27,791,174 (GRCm39)	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,964,965 (GRCm39)	N399K	probably benign	Het
Foxi3	T	A	6: 70,934,017 (GRCm39)	I168N	probably damaging	Het
Frem2	A	T	3: 53,562,761 (GRCm39)	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,582,266 (GRCm39)	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,460,429 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,422,286 (GRCm39)		probably null	Het
Hsf2	T	A	10: 57,381,290 (GRCm39)	Y293*	probably null	Het
Ints10	T	A	8: 69,255,603 (GRCm39)	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,001,957 (GRCm39)	E399G	probably damaging	Het
Itsn1	T	A	16: 91,645,597 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,285,122 (GRCm39)	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,597,387 (GRCm39)	T279A	probably benign	Het
Ly6a	C	T	15: 74,868,300 (GRCm39)		probably null	Het
Mta1	A	G	12: 113,084,456 (GRCm39)	E84G	probably benign	Het
Myh7b	A	G	2: 155,467,886 (GRCm39)	Y808C	probably benign	Het
Ncoa1	A	G	12: 4,317,858 (GRCm39)	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,126,977 (GRCm39)	S428P	probably damaging	Het
Onecut2	A	T	18: 64,473,931 (GRCm39)	T161S	possibly damaging	Het
Or10j27	C	T	1: 172,958,383 (GRCm39)	V134I	probably benign	Het
Or52e19b	G	A	7: 103,033,071 (GRCm39)	T46I	probably benign	Het
Or6c5	T	G	10: 129,074,747 (GRCm39)	M243R	probably benign	Het
Pdp2	A	G	8: 105,321,687 (GRCm39)	D512G	probably damaging	Het
Pex11b	G	T	3: 96,551,027 (GRCm39)	V171L	probably benign	Het
Potefam2	T	C	7: 62,432,783 (GRCm39)		probably null	Het
Ppil3	A	T	1: 58,480,078 (GRCm39)	C32*	probably null	Het
Prune2	T	C	19: 17,095,656 (GRCm39)	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,677,605 (GRCm39)	H518N	possibly damaging	Het
Rhot2	T	C	17: 26,063,068 (GRCm39)	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,362,981 (GRCm39)	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,056,252 (GRCm39)	D812G	possibly damaging	Het
Skap2	T	C	6: 51,884,878 (GRCm39)	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,865,117 (GRCm39)	N755S	probably benign	Het
Stat5a	T	A	11: 100,767,689 (GRCm39)	M419K	probably damaging	Het
Tecta	C	T	9: 42,270,465 (GRCm39)	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,374,913 (GRCm39)	S196R	probably benign	Het
Trpm8	A	T	1: 88,292,837 (GRCm39)	H946L	probably benign	Het

Other mutations in Marchf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01631:Marchf4	APN	1	72,491,690 (GRCm39)	nonsense	probably null
IGL02996:Marchf4	APN	1	72,468,058 (GRCm39)	nonsense	probably null
R0245:Marchf4	UTSW	1	72,573,940 (GRCm39)	missense	probably benign	0.00
R2865:Marchf4	UTSW	1	72,491,734 (GRCm39)	missense	probably damaging	1.00
R4386:Marchf4	UTSW	1	72,467,973 (GRCm39)	missense	probably benign	0.00
R4917:Marchf4	UTSW	1	72,467,938 (GRCm39)	missense	probably benign	0.27
R4918:Marchf4	UTSW	1	72,467,938 (GRCm39)	missense	probably benign	0.27
R5812:Marchf4	UTSW	1	72,468,076 (GRCm39)	missense	probably benign
R6266:Marchf4	UTSW	1	72,491,647 (GRCm39)	missense	probably damaging	1.00
R7247:Marchf4	UTSW	1	72,491,637 (GRCm39)	nonsense	probably null
R7619:Marchf4	UTSW	1	72,574,148 (GRCm39)	missense	possibly damaging	0.89
R7643:Marchf4	UTSW	1	72,486,379 (GRCm39)	missense	probably damaging	1.00
R8928:Marchf4	UTSW	1	72,574,035 (GRCm39)	missense	probably benign	0.01
Z1176:Marchf4	UTSW	1	72,491,659 (GRCm39)	missense	probably damaging	1.00
Z1177:Marchf4	UTSW	1	72,468,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCTCATACCACTGTCCAAGC -3'
(R):5'- ATCACATGCTCATGCCCCTG -3'

Sequencing Primer
(F):5'- GCTACTTCCCAGAGAGTAGCAGTC -3'
(R):5'- TACAGCTGTGGACTGTGCAC -3'

Posted On

2020-07-13