Mutagenetix > Incidental Mutation

Incidental Mutation 'R7643:Marchf4'

590324

Institutional Source

Beutler Lab

Gene Symbol

Marchf4

Ensembl Gene

ENSMUSG00000039372

Gene Name

membrane associated ring-CH-type finger 4

Synonyms

March4

MMRRC Submission

045700-MU

Accession Numbers

Essential gene?

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

Stock #

R7643 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72466271-72576089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 72486379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 266 (Q266H)

Ref Sequence

ENSEMBL: ENSMUSP00000042803 (fasta)

Gene Model

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

AlphaFold

Q80TE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047786
AA Change: Q266H

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

SMART Domains

Protein: ENSMUSP00000042803
Gene: ENSMUSG00000039372
AA Change: Q266H

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% (64/64)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	G	9: 15,209,156 (GRCm39)	F46S	probably damaging	Het
Acaca	T	C	11: 84,229,182 (GRCm39)	Y1670H	probably damaging	Het
Acrbp	G	A	6: 125,030,795 (GRCm39)	R272Q	possibly damaging	Het
Adcy6	T	A	15: 98,491,449 (GRCm39)	Q1050L	probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Ankrd13b	A	G	11: 77,363,911 (GRCm39)	V395A	probably benign	Het
Ap3b2	T	C	7: 81,126,820 (GRCm39)	K310R	probably benign	Het
Bnc2	T	C	4: 84,424,811 (GRCm39)	D123G	probably benign	Het
Bst1	G	A	5: 43,997,791 (GRCm39)	M263I	probably benign	Het
Ccdc7a	C	T	8: 129,616,292 (GRCm39)	G937E	probably damaging	Het
Cep290	A	G	10: 100,373,415 (GRCm39)	M1232V	probably benign	Het
Cfhr1	A	G	1: 139,481,323 (GRCm39)	Y186H	possibly damaging	Het
Dnah7c	A	T	1: 46,641,973 (GRCm39)	H1203L	probably benign	Het
Emc7	A	G	2: 112,285,624 (GRCm39)	E71G	probably benign	Het
Exoc3l4	G	A	12: 111,388,369 (GRCm39)		probably benign	Het
Fam83c	A	G	2: 155,672,924 (GRCm39)	F278L	possibly damaging	Het
Gabpb2	C	A	3: 95,107,536 (GRCm39)	V180L	probably benign	Het
Gbp2b	G	T	3: 142,309,370 (GRCm39)	Q160H	probably benign	Het
Gm19965	C	G	1: 116,749,959 (GRCm39)	Q547E	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,810,114 (GRCm39)	D1774E	probably damaging	Het
Gpr15	A	C	16: 58,538,179 (GRCm39)	Y303*	probably null	Het
Greb1	T	C	12: 16,761,997 (GRCm39)	D461G	probably damaging	Het
Gria4	T	C	9: 4,793,950 (GRCm39)	N36S	probably benign	Het
Hacd1	T	C	2: 14,049,602 (GRCm39)	I119V	probably damaging	Het
Ing5	T	A	1: 93,740,155 (GRCm39)	D101E	probably damaging	Het
Irak4	T	A	15: 94,456,709 (GRCm39)	N297K	probably benign	Het
Itga7	A	G	10: 128,789,370 (GRCm39)	D971G	probably benign	Het
Klf5	A	G	14: 99,550,614 (GRCm39)	E397G	possibly damaging	Het
Krtap29-1	C	T	11: 99,869,024 (GRCm39)	G286S	probably damaging	Het
Lrp2bp	A	T	8: 46,473,564 (GRCm39)		probably null	Het
Med23	A	G	10: 24,781,863 (GRCm39)	T1056A	probably benign	Het
Megf11	T	C	9: 64,613,914 (GRCm39)	L1079P	probably damaging	Het
Mycbp2	G	T	14: 103,583,701 (GRCm39)	L85I	probably benign	Het
Nlgn2	G	T	11: 69,718,711 (GRCm39)	Q290K	probably damaging	Het
Nox4	A	T	7: 86,972,962 (GRCm39)	E323V	probably damaging	Het
Nup93	T	C	8: 95,013,247 (GRCm39)		probably null	Het
Or10d5b	T	A	9: 39,886,117 (GRCm39)	M1L	unknown	Het
Or14a257	C	T	7: 86,138,776 (GRCm39)		probably null	Het
Or51e1	C	T	7: 102,358,745 (GRCm39)	T93I	probably benign	Het
Otop3	T	C	11: 115,230,474 (GRCm39)	L117P	probably damaging	Het
Pde6c	C	A	19: 38,129,869 (GRCm39)	Q260K	probably damaging	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Qser1	A	T	2: 104,617,322 (GRCm39)	Y1163*	probably null	Het
Rbm12	A	T	2: 155,940,137 (GRCm39)	I45N	unknown	Het
Rictor	T	A	15: 6,798,750 (GRCm39)	Y332*	probably null	Het
Rpp14	C	A	14: 8,090,325 (GRCm38)	S83*	probably null	Het
Sel1l3	C	T	5: 53,280,504 (GRCm39)		probably null	Het
Setd2	T	C	9: 110,396,908 (GRCm39)		probably null	Het
Spink5	A	G	18: 44,143,319 (GRCm39)	T759A	probably benign	Het
Spon2	T	A	5: 33,374,800 (GRCm39)	E2V	probably benign	Het
Tdrd1	T	C	19: 56,826,140 (GRCm39)	S144P	probably damaging	Het
Tex15	A	C	8: 34,065,148 (GRCm39)	Y1526S	probably damaging	Het
Tex55	A	G	16: 38,648,225 (GRCm39)	Y295H	probably benign	Het
Tnfrsf21	T	C	17: 43,348,807 (GRCm39)	S140P	probably benign	Het
Trav6-2	T	A	14: 52,904,899 (GRCm39)	M11K	probably benign	Het
Trp53bp1	G	T	2: 121,078,295 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,565,171 (GRCm39)	N28352S	possibly damaging	Het
Uckl1	T	C	2: 181,214,899 (GRCm39)	I292V	probably benign	Het
Unc13b	T	A	4: 43,216,333 (GRCm39)	S211T	probably benign	Het
Zcchc4	T	C	5: 52,965,635 (GRCm39)	I313T	possibly damaging	Het
Zfp106	C	T	2: 120,343,215 (GRCm39)	R1811K	probably benign	Het
Zfp599	G	T	9: 22,161,188 (GRCm39)	Q326K	probably benign	Het
Zscan4e	A	T	7: 11,043,452 (GRCm39)	M108K	probably damaging	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
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'- AAGCCCAGTACTTCTCTGCTTG -3'
(R):5'- TAAGCTCTAGGCCAGTGAACTG -3'

Sequencing Primer
(F):5'- TTGACCTCCAAGTAGAGAGGATCTTG -3'
(R):5'- GGGCATGGGATAAGGGCACTC -3'

Posted On

2019-10-24