Mutagenetix > Incidental Mutation

Incidental Mutation 'R2869:Marchf8'

475546

Institutional Source

Beutler Lab

Gene Symbol

Marchf8

Ensembl Gene

ENSMUSG00000025702

Gene Name

membrane associated ring-CH-type finger 8

Synonyms

March8, 1300017E09Rik, Mir

MMRRC Submission

040457-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R2869 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116314985-116386501 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 116378106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145351 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000123246

Predicted Effect

probably benign
Transcript: ENSMUST00000123405

SMART Domains

Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702

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

noncoding transcript
Transcript: ENSMUST00000127992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130445

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: ENSMUST00000203116

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

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

noncoding transcript
Transcript: ENSMUST00000156014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204918

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	G	1: 59,250,296 (GRCm39)	S483P	probably damaging	Het
C030034I22Rik	T	A	17: 69,725,106 (GRCm39)		noncoding transcript	Het
Carmil1	G	A	13: 24,229,051 (GRCm39)		silent	Het
Ccl27a	C	T	4: 41,769,640 (GRCm39)	R73Q	probably benign	Het
Cd6	A	G	19: 10,771,990 (GRCm39)	I307T	possibly damaging	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Homo
Gbp11	C	T	5: 105,478,866 (GRCm39)	D191N	probably benign	Het
Ggt6	A	T	11: 72,328,187 (GRCm39)	N229I	probably benign	Het
Gm26902	T	A	19: 34,452,210 (GRCm39)	H106L	probably benign	Het
Gm37340	G	A	2: 6,955,739 (GRCm39)		probably benign	Het
Gm9874	A	T	17: 30,704,763 (GRCm39)		probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Gsdme	A	T	6: 50,185,157 (GRCm39)	C432*	probably null	Het
Habp2	T	A	19: 56,276,423 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Kcnb1	A	G	2: 166,947,855 (GRCm39)	L331P	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Homo
Krt13	A	G	11: 100,008,475 (GRCm39)	S421P	unknown	Het
Lactbl1	G	A	4: 136,354,097 (GRCm39)	C37Y	probably damaging	Het
Lzts2	C	A	19: 45,012,534 (GRCm39)	S321*	probably null	Het
Meikin	T	C	11: 54,264,333 (GRCm39)	V103A	possibly damaging	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nav1	A	G	1: 135,388,495 (GRCm39)		silent	Het
Nbn	T	A	4: 15,963,810 (GRCm39)	D70E	probably damaging	Het
Nell1	A	T	7: 49,899,405 (GRCm39)		probably benign	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Nwd2	A	T	5: 63,957,671 (GRCm39)	I334L	probably benign	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or4k2	T	C	14: 50,423,811 (GRCm39)	T288A	probably benign	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Otud4	T	A	8: 80,387,702 (GRCm39)	N300K	possibly damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Plcl1	A	T	1: 55,736,309 (GRCm39)	D550V	probably benign	Het
Ppp1r7	T	A	1: 93,285,585 (GRCm39)		probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Homo
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Pzp	A	T	6: 128,462,519 (GRCm39)		probably null	Het
Serinc2	A	G	4: 130,159,005 (GRCm39)	S29P	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
St7	C	T	6: 17,819,276 (GRCm39)	P60L	probably damaging	Het
Stx3	A	T	19: 11,766,938 (GRCm39)	V91D	probably damaging	Het
Taf6l	A	G	19: 8,755,992 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,540,270 (GRCm39)	H42L	possibly damaging	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Tprg1	T	C	16: 25,231,590 (GRCm39)	W189R	probably damaging	Het
Trim32	A	G	4: 65,532,694 (GRCm39)	D417G	probably damaging	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Ybx3	G	A	6: 131,347,376 (GRCm39)	A253V	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het
Zzz3	T	A	3: 152,152,481 (GRCm39)		silent	Het

Other mutations in Marchf8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:Marchf8	APN	6	116,380,499 (GRCm39)	missense	probably damaging	1.00
strider	UTSW	6	116,379,004 (GRCm39)	missense	probably benign
R0828:Marchf8	UTSW	6	116,382,639 (GRCm39)	missense	probably benign	0.36
R2870:Marchf8	UTSW	6	116,378,106 (GRCm39)	intron	probably benign
R4963:Marchf8	UTSW	6	116,363,232 (GRCm39)	intron	probably benign
R5617:Marchf8	UTSW	6	116,380,481 (GRCm39)	missense	possibly damaging	0.55
R6329:Marchf8	UTSW	6	116,383,277 (GRCm39)	missense	possibly damaging	0.78
R6361:Marchf8	UTSW	6	116,379,062 (GRCm39)	missense	probably null	1.00
R6615:Marchf8	UTSW	6	116,382,624 (GRCm39)	missense	probably damaging	1.00
R6771:Marchf8	UTSW	6	116,379,004 (GRCm39)	missense	probably benign
R7014:Marchf8	UTSW	6	116,380,505 (GRCm39)	missense	probably damaging	1.00
R7014:Marchf8	UTSW	6	116,380,504 (GRCm39)	missense	probably damaging	1.00
R7249:Marchf8	UTSW	6	116,383,195 (GRCm39)	missense	probably benign	0.17
R7558:Marchf8	UTSW	6	116,380,526 (GRCm39)	missense	possibly damaging	0.89
R8218:Marchf8	UTSW	6	116,315,059 (GRCm39)	start gained	probably benign
R8671:Marchf8	UTSW	6	116,378,815 (GRCm39)	missense	probably benign	0.00
R9072:Marchf8	UTSW	6	116,378,884 (GRCm39)	missense	probably benign	0.00
R9073:Marchf8	UTSW	6	116,378,884 (GRCm39)	missense	probably benign	0.00
R9570:Marchf8	UTSW	6	116,382,639 (GRCm39)	missense	probably benign	0.36
R9571:Marchf8	UTSW	6	116,383,237 (GRCm39)	missense	probably benign	0.05
R9632:Marchf8	UTSW	6	116,378,405 (GRCm39)	missense	possibly damaging	0.64
R9710:Marchf8	UTSW	6	116,378,405 (GRCm39)	missense	possibly damaging	0.64
R9733:Marchf8	UTSW	6	116,378,990 (GRCm39)	missense	probably damaging	1.00
Z1177:Marchf8	UTSW	6	116,315,233 (GRCm39)	intron	probably benign

Predicted Primers

Posted On

2017-05-11