Mutagenetix > Incidental Mutation

Incidental Mutation 'R7247:Marchf4'

563581

Institutional Source

Beutler Lab

Gene Symbol

Marchf4

Ensembl Gene

ENSMUSG00000039372

Gene Name

membrane associated ring-CH-type finger 4

Synonyms

March4

MMRRC Submission

045310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R7247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72466271-72576089 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 72491637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 211 (Y211*)

Ref Sequence

ENSEMBL: ENSMUSP00000042803 (fasta)

Gene Model

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

AlphaFold

Q80TE3

Predicted Effect

probably null
Transcript: ENSMUST00000047786
AA Change: Y211*

SMART Domains

Protein: ENSMUSP00000042803
Gene: ENSMUSG00000039372
AA Change: Y211*

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,732 (GRCm39)	E865G	probably benign	Het
Actrt2	A	C	4: 154,751,880 (GRCm39)	D85E	probably benign	Het
Ankrd55	A	G	13: 112,472,787 (GRCm39)	E153G	probably damaging	Het
Arfgef3	T	A	10: 18,501,139 (GRCm39)	H1037L	probably benign	Het
Camk2a	A	G	18: 61,076,277 (GRCm39)	Y85C	unknown	Het
Caprin1	A	T	2: 103,609,819 (GRCm39)	V153E	possibly damaging	Het
Caskin2	G	A	11: 115,692,722 (GRCm39)	P688S	probably benign	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ccdc116	T	C	16: 16,957,555 (GRCm39)	T535A	possibly damaging	Het
Cdh9	G	A	15: 16,778,341 (GRCm39)	R52H	probably damaging	Het
Cdk5rap2	A	G	4: 70,255,666 (GRCm39)	L406S	probably damaging	Het
Cep350	A	G	1: 155,786,499 (GRCm39)	M1449T	probably damaging	Het
Chst8	T	A	7: 34,375,361 (GRCm39)	K159N	probably damaging	Het
Dcdc2a	A	G	13: 25,286,374 (GRCm39)	H136R	probably benign	Het
Dip2a	C	T	10: 76,108,366 (GRCm39)		probably null	Het
Dock2	G	A	11: 34,605,340 (GRCm39)	R260*	probably null	Het
Dscam	A	G	16: 96,622,008 (GRCm39)	V481A	probably damaging	Het
E130308A19Rik	A	G	4: 59,690,502 (GRCm39)	D112G	probably damaging	Het
Ezh2	T	C	6: 47,510,708 (GRCm39)	K634E	probably damaging	Het
Fcgr2b	A	G	1: 170,793,269 (GRCm39)		probably null	Het
Fgfrl1	T	C	5: 108,851,365 (GRCm39)	V94A	possibly damaging	Het
Gpr156	C	A	16: 37,768,103 (GRCm39)	N6K	probably damaging	Het
Gsdmc2	A	T	15: 63,705,183 (GRCm39)	F177I	probably benign	Het
Igkv4-54	T	A	6: 69,608,842 (GRCm39)	S26C	probably damaging	Het
Iglc3	T	C	16: 18,884,191 (GRCm39)	H80R		Het
Immp1l	G	A	2: 105,767,401 (GRCm39)	G87S	probably damaging	Het
Itgav	A	T	2: 83,555,179 (GRCm39)	D34V	probably damaging	Het
Lrp1b	G	A	2: 41,159,224 (GRCm39)	T1686I		Het
Ltn1	T	C	16: 87,206,275 (GRCm39)	D935G	probably benign	Het
Map3k8	T	C	18: 4,334,036 (GRCm39)	D352G	probably damaging	Het
Map3k9	T	C	12: 81,772,604 (GRCm39)	K610E	possibly damaging	Het
Marf1	A	T	16: 13,944,957 (GRCm39)	L1304Q	probably damaging	Het
Matcap1	A	T	8: 106,011,331 (GRCm39)	Y268N	probably benign	Het
Mecom	A	G	3: 30,194,505 (GRCm39)	V5A	unknown	Het
Mep1a	A	T	17: 43,785,995 (GRCm39)	V711D	possibly damaging	Het
Naca	T	A	10: 127,878,467 (GRCm39)	D1166E	unknown	Het
Neb	G	T	2: 52,148,753 (GRCm39)	P2598Q	probably damaging	Het
Notch4	A	T	17: 34,791,491 (GRCm39)	E546V	probably damaging	Het
Nudt18	A	G	14: 70,815,422 (GRCm39)	T12A	unknown	Het
Nvl	A	C	1: 180,939,851 (GRCm39)		probably null	Het
Obscn	G	T	11: 58,994,144 (GRCm39)	C1579*	probably null	Het
Or4b13	G	A	2: 90,083,165 (GRCm39)	P56S	probably damaging	Het
Or51e2	T	C	7: 102,391,551 (GRCm39)	I220V	probably damaging	Het
Or6c5b	T	C	10: 129,246,051 (GRCm39)	V272A	probably damaging	Het
Or7g33	A	T	9: 19,448,629 (GRCm39)	I199K	probably benign	Het
Or8g19	T	A	9: 39,056,153 (GRCm39)	Y252*	probably null	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Paqr9	A	G	9: 95,442,246 (GRCm39)	T79A	possibly damaging	Het
Plec	A	T	15: 76,061,543 (GRCm39)	V2798E	probably damaging	Het
Potefam3f	A	G	8: 20,479,022 (GRCm39)	N10S		Het
Ptpn4	A	T	1: 119,617,764 (GRCm39)	*557R	probably null	Het
Ptprt	T	C	2: 161,375,443 (GRCm39)	E1379G	probably benign	Het
Rad18	G	T	6: 112,642,286 (GRCm39)	T327K	possibly damaging	Het
Rps2	T	A	17: 24,939,554 (GRCm39)	I75N	possibly damaging	Het
Scgb2b2	A	T	7: 31,003,021 (GRCm39)	R39W	probably damaging	Het
Sh3d21	A	G	4: 126,045,908 (GRCm39)	F307S	probably benign	Het
Snap91	A	G	9: 86,674,669 (GRCm39)	V507A	unknown	Het
Srgap1	T	A	10: 121,705,695 (GRCm39)	Y243F	probably damaging	Het
Stim1	T	A	7: 102,070,739 (GRCm39)		probably null	Het
Top2b	T	C	14: 16,416,962 (GRCm38)	V1161A	probably benign	Het
Tpcn1	T	C	5: 120,723,315 (GRCm39)	D16G	possibly damaging	Het
Trank1	A	T	9: 111,196,580 (GRCm39)	I1535F	probably damaging	Het
Txnrd2	T	C	16: 18,274,822 (GRCm39)	F278L	probably damaging	Het
Ufl1	A	T	4: 25,254,637 (GRCm39)	D579E	probably damaging	Het
Vps45	T	C	3: 95,948,717 (GRCm39)	N346S	probably benign	Het
Vps51	T	A	19: 6,127,419 (GRCm39)		probably benign	Het
Zfp536	T	C	7: 37,268,631 (GRCm39)	N262D	probably benign	Het
Zmynd10	A	G	9: 107,425,976 (GRCm39)	I103M	possibly damaging	Het
Zswim1	C	T	2: 164,667,719 (GRCm39)	H324Y	possibly damaging	Het
Zxdc	T	C	6: 90,361,155 (GRCm39)	W507R	unknown	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
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
R8176:Marchf4	UTSW	1	72,573,998 (GRCm39)	missense	probably damaging	0.96
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'- GAGAAAAGACCGCCTTTCAC -3'
(R):5'- TGGGCTATCAGAGTGGCTAAG -3'

Sequencing Primer
(F):5'- ACCACCTCCTGACTGTGTGG -3'
(R):5'- CCAGCCATGTCTCATCAA -3'

Posted On

2019-06-26