Mutagenetix > Incidental Mutation

Incidental Mutation 'R9570:Marchf8'

721906

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 #

R9570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116314985-116386501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116382639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 434 (M434K)

Ref Sequence

ENSEMBL: ENSMUSP00000144936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026795] [ENSMUST00000079012] [ENSMUST00000101032] [ENSMUST00000123405] [ENSMUST00000135901] [ENSMUST00000203116] [ENSMUST00000204657] [ENSMUST00000203193] [ENSMUST00000140884] [ENSMUST00000203722]

AlphaFold

Q9DBD2

Predicted Effect

probably benign
Transcript: ENSMUST00000026795

SMART Domains

Protein: ENSMUSP00000026795
Gene: ENSMUSG00000025701

Domain	Start	End	E-Value	Type
LH2	2	115	3.41e-39	SMART
Pfam:Lipoxygenase	212	662	1.5e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079012
AA Change: M152K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
AA Change: M152K

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
AA Change: M152K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
AA Change: M152K

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
AA Change: M434K

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: M434K

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
AA Change: M131K

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702
AA Change: M131K

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
AA Change: M25K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000204657
AA Change: M152K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702
AA Change: M152K

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: ENSMUST00000203193
AA Change: M113K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
AA Change: M113K

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

noncoding transcript
Transcript: ENSMUST00000204918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167447

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169625

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: ENSMUST00000203722

SMART Domains

Protein: ENSMUSP00000145367
Gene: ENSMUSG00000025701

Domain	Start	End	E-Value	Type
LH2	2	115	2.2e-41	SMART
Pfam:Lipoxygenase	213	430	3e-35	PFAM

Meta Mutation Damage Score

0.3642

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,687 (GRCm39)	T26I	probably benign	Het
Adgrg7	A	G	16: 56,570,813 (GRCm39)	L405P	probably damaging	Het
Ankle1	A	G	8: 71,859,424 (GRCm39)	D106G	probably damaging	Het
Ankrd17	G	T	5: 90,401,536 (GRCm39)	D1609E		Het
Anpep	A	G	7: 79,476,661 (GRCm39)	V772A	probably benign	Het
Anxa8	T	C	14: 33,814,509 (GRCm39)	V115A	possibly damaging	Het
Aoc1	T	C	6: 48,882,772 (GRCm39)	F216S	probably damaging	Het
Aplf	T	A	6: 87,640,781 (GRCm39)	E76V	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Arhgap42	T	A	9: 9,148,209 (GRCm39)	Y120F		Het
Atg2a	T	A	19: 6,305,749 (GRCm39)	H1316Q	probably benign	Het
Atp8b3	A	G	10: 80,361,822 (GRCm39)	F743S	probably benign	Het
Best1	A	T	19: 9,970,331 (GRCm39)	W94R	probably damaging	Het
Catsper3	T	C	13: 55,953,669 (GRCm39)		probably null	Het
Ccdc80	A	T	16: 44,915,449 (GRCm39)	E68D	probably benign	Het
Col8a1	T	A	16: 57,448,539 (GRCm39)	I324F	unknown	Het
Coro1c	G	A	5: 114,003,816 (GRCm39)	R68*	probably null	Het
Dennd4c	A	G	4: 86,747,208 (GRCm39)	D1464G	possibly damaging	Het
Dgat2	C	T	7: 98,818,926 (GRCm39)	V77I	possibly damaging	Het
Ecpas	G	A	4: 58,832,796 (GRCm39)	R855*	probably null	Het
Ednra	A	C	8: 78,393,961 (GRCm39)	N378K	possibly damaging	Het
Eif1ad4	A	G	12: 87,862,534 (GRCm39)	D132G	unknown	Het
Eml5	A	T	12: 98,782,243 (GRCm39)	D178E	probably benign	Het
Ethe1	G	T	7: 24,293,236 (GRCm39)		probably benign	Het
Fgf21	C	T	7: 45,264,594 (GRCm39)	R46Q	probably damaging	Het
Flt3	C	T	5: 147,309,424 (GRCm39)	V198M	possibly damaging	Het
Fryl	T	C	5: 73,179,498 (GRCm39)	N2970D	probably benign	Het
Gtf2e2	T	A	8: 34,252,076 (GRCm39)	D197E	probably damaging	Het
Gtf2i	G	A	5: 134,294,627 (GRCm39)	R362W	probably damaging	Het
Gtpbp10	C	T	5: 5,596,382 (GRCm39)	G188R	probably damaging	Het
Gzmc	A	C	14: 56,469,042 (GRCm39)	S226A	probably benign	Het
Hhatl	A	T	9: 121,613,282 (GRCm39)	V471D	possibly damaging	Het
Hoxd11	T	C	2: 74,512,812 (GRCm39)	S26P	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,794 (GRCm39)	W69R	probably benign	Het
Kcnk3	T	C	5: 30,779,433 (GRCm39)	L161P	possibly damaging	Het
Klk6	A	G	7: 43,477,967 (GRCm39)	D113G	probably damaging	Het
Map3k5	A	G	10: 19,876,314 (GRCm39)	I158V	probably benign	Het
Mcc	T	C	18: 44,578,925 (GRCm39)	R828G	probably damaging	Het
Muc4	A	T	16: 32,569,695 (GRCm39)	T252S	possibly damaging	Het
Naip5	T	C	13: 100,359,821 (GRCm39)	T472A	probably benign	Het
Nme7	A	G	1: 164,206,961 (GRCm39)	D282G	probably benign	Het
Npdc1	G	T	2: 25,298,312 (GRCm39)	A228S	probably benign	Het
Nrbp1	T	A	5: 31,401,272 (GRCm39)	S49R	probably damaging	Het
Ntan1	T	C	16: 13,637,248 (GRCm39)	V10A	possibly damaging	Het
Or10a3	A	G	7: 108,480,504 (GRCm39)	V103A	possibly damaging	Het
Or10b1	T	C	10: 78,356,084 (GRCm39)	V214A	probably benign	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Pdcd2l	T	C	7: 33,892,401 (GRCm39)	D156G	probably benign	Het
Pde11a	A	G	2: 75,877,157 (GRCm39)	S771P	probably damaging	Het
Pilra	T	A	5: 137,834,342 (GRCm39)	M14L	probably benign	Het
Pkd1l1	T	A	11: 8,840,697 (GRCm39)	E1237V		Het
Pkp2	A	T	16: 16,078,278 (GRCm39)	T507S	possibly damaging	Het
Polm	A	G	11: 5,779,713 (GRCm39)	Y362H	probably damaging	Het
Pramel12	A	T	4: 143,144,514 (GRCm39)	M287L	probably benign	Het
Prcd	C	T	11: 116,550,583 (GRCm39)	S85F	possibly damaging	Het
Prox2	G	A	12: 85,141,766 (GRCm39)	Q146*	probably null	Het
Ptger1	T	C	8: 84,395,461 (GRCm39)	W313R	probably damaging	Het
Ptpn23	T	C	9: 110,227,217 (GRCm39)	E44G	probably damaging	Het
Rai1	A	G	11: 60,076,568 (GRCm39)	T211A	probably benign	Het
Rgl1	C	A	1: 152,430,082 (GRCm39)	D234Y	possibly damaging	Het
Rlf	A	G	4: 121,007,087 (GRCm39)	V741A	possibly damaging	Het
Rnaseh2b	T	C	14: 62,597,978 (GRCm39)		probably null	Het
Selenon	C	T	4: 134,270,055 (GRCm39)	R383H	probably benign	Het
Sh3rf2	A	T	18: 42,272,620 (GRCm39)	H368L	possibly damaging	Het
Slc9c1	A	T	16: 45,380,705 (GRCm39)	I544L	probably benign	Het
Smarca4	A	G	9: 21,580,849 (GRCm39)	E993G	probably damaging	Het
Stab1	T	A	14: 30,864,638 (GRCm39)	I1966F	probably benign	Het
Stard9	G	A	2: 120,534,714 (GRCm39)	S3657N	probably benign	Het
Tex15	G	A	8: 34,067,309 (GRCm39)	M2246I	probably damaging	Het
Ttc41	A	T	10: 86,549,598 (GRCm39)	N264I	possibly damaging	Het
Use1	T	A	8: 71,820,473 (GRCm39)	M96K	possibly damaging	Het
Vmn1r201	T	C	13: 22,659,236 (GRCm39)	I150T	probably damaging	Het
Vmn1r34	T	C	6: 66,614,718 (GRCm39)	I7V	probably benign	Het
Vps8	T	A	16: 21,462,953 (GRCm39)	F1406Y	probably benign	Het
Zfp788	A	T	7: 41,300,006 (GRCm39)	T881S	possibly damaging	Het
Zfp804a	C	T	2: 82,088,844 (GRCm39)	T891I	probably benign	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
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

PCR Primer
(F):5'- CGCTATGTCATTGAAGCCAAC -3'
(R):5'- TGCTCTCTCAGGAAACAGAGC -3'

Sequencing Primer
(F):5'- TTGTGTGTGTGGGGAGATTGATC -3'
(R):5'- TCTCTCAGGAAACAGAGCTCTAAAC -3'

Posted On

2022-08-09