Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Marchf8'

545183

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

045115-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116314985-116386501 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 116380504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 118 (C118W)

Ref Sequence

ENSEMBL: ENSMUSP00000145351 (fasta)

Gene Model

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

AlphaFold

Q9DBD2

Predicted Effect

probably damaging
Transcript: ENSMUST00000079012
AA Change: C118W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078024
Gene: ENSMUSG00000025702
AA Change: C118W

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 damaging
Transcript: ENSMUST00000101032
AA Change: C118W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098594
Gene: ENSMUSG00000025702
AA Change: C118W

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 damaging
Transcript: ENSMUST00000123405
AA Change: C400W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144936
Gene: ENSMUSG00000025702
AA Change: C400W

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 damaging
Transcript: ENSMUST00000135901
AA Change: C97W

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115510
Gene: ENSMUSG00000025702
AA Change: C97W

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 damaging
Transcript: ENSMUST00000203193
AA Change: C79W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145137
Gene: ENSMUSG00000025702
AA Change: C79W

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 damaging
Transcript: ENSMUST00000204657
AA Change: C118W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145351
Gene: ENSMUSG00000025702
AA Change: C118W

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Arid3a	G	T	10: 79,786,718 (GRCm39)	M488I	possibly damaging	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,158,532 (GRCm39)		probably null	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,557,277 (GRCm39)	E225G	probably damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Ctif	T	A	18: 75,570,279 (GRCm39)	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Ebna1bp2	T	A	4: 118,480,575 (GRCm39)	Y139*	probably null	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	probably null	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
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

PCR Primer
(F):5'- GTGCTGACAGTCACTTTTACGG -3'
(R):5'- CAGAAGTAAGGCTCGACAGC -3'

Sequencing Primer
(F):5'- AATTGGCCTTCTGGTGCAGC -3'
(R):5'- GCAAGCACTCCAGCCTCAATTTC -3'

Posted On

2019-05-13