Mutagenetix > Incidental Mutation

Incidental Mutation 'R8671:March8'

661158

Institutional Source

Beutler Lab

Gene Symbol

March8

Ensembl Gene

ENSMUSG00000025702

Gene Name

membrane-associated ring finger (C3HC4) 8

Synonyms

1300017E09Rik, Mir

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116338024-116409540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116401854 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 250 (R250G)

Ref Sequence

ENSEMBL: ENSMUSP00000144936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079012] [ENSMUST00000101032] [ENSMUST00000123405] [ENSMUST00000135901] [ENSMUST00000140884] [ENSMUST00000203116] [ENSMUST00000203193] [ENSMUST00000204657]

AlphaFold

Q9DBD2

Predicted Effect

probably benign
Transcript: ENSMUST00000079012

SMART Domains

Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	47	64	N/A	INTRINSIC
RINGv	75	123	1.16e-23	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101032

SMART Domains

Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	47	64	N/A	INTRINSIC
RINGv	75	123	1.16e-23	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	188	210	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123405
AA Change: R250G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: R250G

Domain	Start	End	E-Value	Type
low complexity region	47	64	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
RINGv	357	405	2.4e-25	SMART
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	475	497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135901

SMART Domains

Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	43	60	N/A	INTRINSIC
RINGv	71	119	1.16e-23	SMART
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	184	206	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140884

SMART Domains

Protein: ENSMUSP00000145060
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	47	64	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203116

Predicted Effect

probably benign
Transcript: ENSMUST00000203193

SMART Domains

Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
RINGv	36	84	2.9e-26	SMART
transmembrane domain	112	134	N/A	INTRINSIC
transmembrane domain	149	171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204657

SMART Domains

Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702

Domain	Start	End	E-Value	Type
low complexity region	47	64	N/A	INTRINSIC
RINGv	75	123	2.9e-26	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the membrane-associated really interesting new gene-CH family of proteins. These proteins are E3 ubiquitin-protein ligases that modulate antigen presentation by downregulating major histocompatibility complex class II surface expression through endocytosis. The transcript is primarily expressed by dendritic cells and macrophages. Overexpression of this gene in antigen presenting cells results in immune defective phenotypes, including resistance to autoimmune disease onset. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a normal CD4+ T cell compartment in the thymus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Prkd1	T	A	12: 50,388,408	N512I	probably benign	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in March8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:March8	APN	6	116403538	missense	probably damaging	1.00
strider	UTSW	6	116402043	missense	probably benign
R0828:March8	UTSW	6	116405678	missense	probably benign	0.36
R2869:March8	UTSW	6	116401145	intron	probably benign
R2870:March8	UTSW	6	116401145	intron	probably benign
R4963:March8	UTSW	6	116386271	intron	probably benign
R5617:March8	UTSW	6	116403520	missense	possibly damaging	0.55
R6329:March8	UTSW	6	116406316	missense	possibly damaging	0.78
R6361:March8	UTSW	6	116402101	missense	probably null	1.00
R6615:March8	UTSW	6	116405663	missense	probably damaging	1.00
R6771:March8	UTSW	6	116402043	missense	probably benign
R7014:March8	UTSW	6	116403543	missense	probably damaging	1.00
R7014:March8	UTSW	6	116403544	missense	probably damaging	1.00
R7249:March8	UTSW	6	116406234	missense	probably benign	0.17
R7558:March8	UTSW	6	116403565	missense	possibly damaging	0.89
R8218:March8	UTSW	6	116338098	start gained	probably benign
R9072:March8	UTSW	6	116401923	missense	probably benign	0.00
R9073:March8	UTSW	6	116401923	missense	probably benign	0.00
R9570:March8	UTSW	6	116405678	missense	probably benign	0.36
R9571:March8	UTSW	6	116406276	missense	probably benign	0.05
R9632:March8	UTSW	6	116401444	missense	possibly damaging	0.64
R9710:March8	UTSW	6	116401444	missense	possibly damaging	0.64
R9733:March8	UTSW	6	116402029	missense	probably damaging	1.00
Z1177:March8	UTSW	6	116338272	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGGGAAATTGGTGCTTCCTC -3'
(R):5'- CAAAGACGTCGTCATCTCCC -3'

Sequencing Primer
(F):5'- AAATTGGTGCTTCCTCAAGGTTC -3'
(R):5'- CATTTCATCAGAACAGAAGTCCATG -3'

Posted On

2021-03-08