Mutagenetix > Incidental Mutation

Incidental Mutation 'R9710:Marchf8'

730062

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

Accession Numbers

Essential gene?

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

Stock #

R9710 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116314985-116386501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 116378405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

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

possibly damaging
Transcript: ENSMUST00000123405
AA Change: T113I

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: T113I

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

Coding Region Coverage

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

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,946,852 (GRCm39)	S250P	probably benign	Het
Ahcyl1	T	A	3: 107,578,494 (GRCm39)	I248F	possibly damaging	Het
Alpk2	T	A	18: 65,482,646 (GRCm39)	E454V	probably damaging	Het
Ank3	A	T	10: 69,829,070 (GRCm39)	T2580S		Het
Anks1	G	A	17: 28,128,571 (GRCm39)	G46R	possibly damaging	Het
Arhgap45	A	G	10: 79,857,635 (GRCm39)	E322G	probably damaging	Het
Arhgef2	T	C	3: 88,528,576 (GRCm39)	I4T	probably benign	Het
C1qtnf4	T	C	2: 90,720,351 (GRCm39)	I208T	probably damaging	Het
Cachd1	T	A	4: 100,832,092 (GRCm39)	N751K	probably benign	Het
Cacna1a	G	T	8: 85,320,808 (GRCm39)	V1589F	possibly damaging	Het
Cacnb1	T	C	11: 97,902,197 (GRCm39)	H205R	probably benign	Het
Castor1	A	G	11: 4,169,015 (GRCm39)	K61E	probably benign	Het
Ccdc9b	G	T	2: 118,591,077 (GRCm39)	A152E	probably benign	Het
Clvs2	C	A	10: 33,389,307 (GRCm39)	R311L	probably benign	Het
Crim1	G	T	17: 78,610,504 (GRCm39)	G320*	probably null	Het
Crtam	A	T	9: 40,895,671 (GRCm39)	D218E	probably benign	Het
Cwc27	G	A	13: 104,943,158 (GRCm39)	T128I	probably damaging	Het
Cyp4a14	T	A	4: 115,349,347 (GRCm39)	I238F	probably benign	Het
D930020B18Rik	A	C	10: 121,503,563 (GRCm39)	E246A	probably benign	Het
Dsg1c	T	A	18: 20,410,044 (GRCm39)	V504E	probably benign	Het
Enpp6	T	A	8: 47,518,948 (GRCm39)	S239T	probably damaging	Het
Eri2	A	T	7: 119,384,824 (GRCm39)	I559N	probably benign	Het
Fbxo34	T	C	14: 47,768,724 (GRCm39)	Y746H	probably damaging	Het
Galr1	A	T	18: 82,424,103 (GRCm39)	L58Q	probably damaging	Het
Ghdc	A	G	11: 100,658,863 (GRCm39)	V423A	probably benign	Het
Glt28d2	T	C	3: 85,779,059 (GRCm39)	D138G	probably benign	Het
Gm266	A	T	12: 111,451,763 (GRCm39)	C148S	probably benign	Het
Gnas	C	T	2: 174,141,132 (GRCm39)	T493M	unknown	Het
Hivep2	T	C	10: 14,015,203 (GRCm39)	I1790T	probably damaging	Het
Impg1	A	G	9: 80,287,276 (GRCm39)	V390A	probably benign	Het
Isy1	A	G	6: 87,796,574 (GRCm39)	F239L	possibly damaging	Het
Itgb5	A	G	16: 33,685,917 (GRCm39)	T86A	probably benign	Het
Itpr1	T	C	6: 108,382,481 (GRCm39)	C1458R	possibly damaging	Het
Krt28	T	C	11: 99,255,921 (GRCm39)	E446G	probably damaging	Het
Lama1	A	T	17: 68,129,404 (GRCm39)	Q3071L		Het
Lasp1	A	G	11: 97,697,593 (GRCm39)		probably benign	Het
Lmf2	T	C	15: 89,237,419 (GRCm39)	K348E	probably benign	Het
Lrch3	G	T	16: 32,796,108 (GRCm39)	E331*	probably null	Het
Lzic	T	A	4: 149,573,141 (GRCm39)	F98I	probably damaging	Het
Map7d1	C	A	4: 126,127,440 (GRCm39)		probably null	Het
Mgrn1	A	T	16: 4,745,740 (GRCm39)	K423*	probably null	Het
Muc20	G	A	16: 32,615,266 (GRCm39)	T37I	possibly damaging	Het
Myh15	A	G	16: 48,959,044 (GRCm39)	E972G	probably damaging	Het
Myocd	T	A	11: 65,087,167 (GRCm39)	K253N	probably damaging	Het
Myod1	T	G	7: 46,026,575 (GRCm39)	L160R	probably damaging	Het
Nanog	T	C	6: 122,684,799 (GRCm39)	S20P	probably benign	Het
Nat8f2	A	T	6: 85,844,683 (GRCm39)	Y226*	probably null	Het
Nsmf	A	G	2: 24,949,077 (GRCm39)	K277R	probably null	Het
Nsrp1	C	T	11: 76,967,503 (GRCm39)	G30R	probably damaging	Het
Nsun6	C	A	2: 15,003,009 (GRCm39)	R389L	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or10g9	A	T	9: 39,912,172 (GRCm39)	M117K	probably damaging	Het
Or11h4	C	T	14: 50,974,199 (GRCm39)	C140Y	probably benign	Het
Or51h1	A	G	7: 102,308,441 (GRCm39)	T138A	probably damaging	Het
Or5w20	G	A	2: 87,726,902 (GRCm39)	D120N	probably damaging	Het
Pgm1	T	C	4: 99,843,918 (GRCm39)	L567P	probably damaging	Het
Polrmt	G	T	10: 79,576,535 (GRCm39)	H474N	probably benign	Het
Ppfia2	A	G	10: 106,664,885 (GRCm39)	I374V	probably benign	Het
Pramel5	T	A	4: 143,999,545 (GRCm39)	I181F	probably benign	Het
Prpf4b	T	A	13: 35,083,870 (GRCm39)	Y880N	probably damaging	Het
Ptpn3	G	A	4: 57,249,957 (GRCm39)	Q180*	probably null	Het
Ptprc	T	C	1: 138,008,627 (GRCm39)	R687G	probably damaging	Het
Rnaseh2a	T	C	8: 85,684,638 (GRCm39)	T241A	probably damaging	Het
Rnf148	T	A	6: 23,654,802 (GRCm39)	I65F	possibly damaging	Het
Rnf213	A	G	11: 119,331,831 (GRCm39)	I2348V		Het
Rttn	A	G	18: 89,035,334 (GRCm39)	N736S	possibly damaging	Het
Ryr3	A	C	2: 112,633,534 (GRCm39)	V2093G	probably damaging	Het
Selenof	T	A	3: 144,283,370 (GRCm39)	F33L	probably benign	Het
Sh2d3c	C	T	2: 32,635,889 (GRCm39)	R238*	probably null	Het
Slc23a4	T	C	6: 34,923,235 (GRCm39)	K543R	probably benign	Het
Smn1	A	T	13: 100,272,210 (GRCm39)	N278I	possibly damaging	Het
Sox7	G	A	14: 64,185,509 (GRCm39)	A182T	probably benign	Het
Spata31e5	T	A	1: 28,817,120 (GRCm39)	Y304F	probably benign	Het
Sptlc2	A	T	12: 87,359,533 (GRCm39)	I501N	probably benign	Het
Srf	T	C	17: 46,866,271 (GRCm39)	T162A	probably benign	Het
Srm	C	T	4: 148,676,039 (GRCm39)		probably benign	Het
Stim1	CAGCGCCTGACGGAGC	CAGC	7: 102,080,118 (GRCm39)		probably benign	Het
Taar8a	T	C	10: 23,952,714 (GRCm39)	L106P	probably damaging	Het
Tcte1	A	G	17: 45,850,798 (GRCm39)	H358R	possibly damaging	Het
Tmem205	A	G	9: 21,837,587 (GRCm39)	S20P	probably damaging	Het
Trav16	T	A	14: 53,980,910 (GRCm39)	V33E	possibly damaging	Het
Trf	T	A	9: 103,103,217 (GRCm39)	I149F	probably damaging	Het
Trmt2a	C	T	16: 18,070,041 (GRCm39)	Q419*	probably null	Het
Ttc19	A	G	11: 62,203,997 (GRCm39)	I319M	probably benign	Het
Txndc16	T	C	14: 45,400,467 (GRCm39)	I345V	probably benign	Het
Ube3b	T	C	5: 114,553,370 (GRCm39)	I914T	probably benign	Het
Ubr3	T	C	2: 69,727,957 (GRCm39)	F107L	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,407 (GRCm39)	F75S	possibly damaging	Het
Vmn2r54	A	T	7: 12,363,753 (GRCm39)	M380K	possibly damaging	Het
Wdr7	T	A	18: 63,927,317 (GRCm39)	M989K	possibly damaging	Het
Zcchc3	A	G	2: 152,256,385 (GRCm39)	S105P	probably benign	Het
Zfp735	T	A	11: 73,601,806 (GRCm39)	V250E	possibly damaging	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
R2869:Marchf8	UTSW	6	116,378,106 (GRCm39)	intron	probably benign
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
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

PCR Primer
(F):5'- CGCCAAGTTCCAATGCAGTC -3'
(R):5'- GAAGCACCAATTTCCCTTCAG -3'

Sequencing Primer
(F):5'- AAGTTCCAATGCAGTCTCCTTTC -3'
(R):5'- CCAATTTCCCTTCAGAACAAGTTC -3'

Posted On

2022-10-06