Mutagenetix > Incidental Mutation

Incidental Mutation 'R1794:Marchf1'

202049

Institutional Source

Beutler Lab

Gene Symbol

Marchf1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane associated ring-CH-type finger 1

Synonyms

March1, 2900024D24Rik

MMRRC Submission

039824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R1794 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66070552-66924289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66839594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 126 (Y126N)

Ref Sequence

ENSEMBL: ENSMUSP00000105885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039540] [ENSMUST00000072482] [ENSMUST00000098708] [ENSMUST00000110253] [ENSMUST00000110255] [ENSMUST00000110256] [ENSMUST00000110258] [ENSMUST00000110259] [ENSMUST00000178982]

AlphaFold

Q6NZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000039540

SMART Domains

Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072482

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098708

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110253

SMART Domains

Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110255

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110256
AA Change: Y126N

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: Y126N

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
low complexity region	111	125	N/A	INTRINSIC
low complexity region	151	165	N/A	INTRINSIC
RINGv	330	378	2.14e-22	SMART
transmembrane domain	406	428	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110258

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132019

Predicted Effect

probably benign
Transcript: ENSMUST00000110259

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178982

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa7	A	G	14: 20,521,535 (GRCm39)	Y54H	unknown	Het
Arhgef3	A	G	14: 27,119,562 (GRCm39)	T331A	probably benign	Het
Arhgef40	G	T	14: 52,227,387 (GRCm39)	C477F	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp13a5	C	A	16: 29,140,527 (GRCm39)	R343L	probably damaging	Het
Brdt	ACAGCAGCAGCAGCAGC	ACAGCAGCAGCAGC	5: 107,507,719 (GRCm39)		probably benign	Het
Btbd2	G	T	10: 80,479,747 (GRCm39)	D426E	probably damaging	Het
Cabin1	A	C	10: 75,561,579 (GRCm39)	I974R	possibly damaging	Het
Cacna1i	G	A	15: 80,273,323 (GRCm39)	V1670M	probably damaging	Het
Cc2d2a	C	A	5: 43,845,594 (GRCm39)	Q288K	probably damaging	Het
Ccl20	T	A	1: 83,095,550 (GRCm39)	I37K	possibly damaging	Het
Cdcp1	A	G	9: 123,019,159 (GRCm39)	V40A	probably benign	Het
Cdcp1	T	C	9: 123,044,896 (GRCm39)	T27A	probably benign	Het
Cdh4	C	T	2: 179,528,635 (GRCm39)	T581I	probably damaging	Het
Cgn	A	G	3: 94,669,864 (GRCm39)		probably null	Het
Col7a1	G	A	9: 108,794,996 (GRCm39)	G1493D	unknown	Het
Creb3	A	G	4: 43,563,302 (GRCm39)	E133G	probably benign	Het
Dchs1	T	C	7: 105,420,927 (GRCm39)	T498A	probably benign	Het
Dis3l	A	C	9: 64,225,058 (GRCm39)	V413G	possibly damaging	Het
Dnah6	T	C	6: 73,001,941 (GRCm39)	E3865G	probably damaging	Het
Fam219b	A	G	9: 57,446,564 (GRCm39)	Y139C	probably damaging	Het
Fat3	A	T	9: 15,908,432 (GRCm39)	Y2523*	probably null	Het
Fat3	A	T	9: 15,908,434 (GRCm39)	Y2523N	probably benign	Het
Fmnl1	T	C	11: 103,087,973 (GRCm39)	S40P	probably benign	Het
Gm4792	T	C	10: 94,134,352 (GRCm39)	D6G	unknown	Het
Hhat	G	T	1: 192,376,214 (GRCm39)	Y306*	probably null	Het
Hmcn1	A	G	1: 150,474,036 (GRCm39)	I4802T	probably benign	Het
Hmcn1	G	A	1: 150,502,903 (GRCm39)	T3908I	probably damaging	Het
Hsph1	A	T	5: 149,554,238 (GRCm39)	N79K	probably damaging	Het
Ikbke	T	A	1: 131,186,955 (GRCm39)	Y579F	probably damaging	Het
Jak2	A	G	19: 29,276,957 (GRCm39)	D838G	probably benign	Het
Klhdc7b	T	C	15: 89,271,223 (GRCm39)	S702P	probably benign	Het
Lingo3	C	A	10: 80,671,432 (GRCm39)	R166L	probably benign	Het
Lins1	T	C	7: 66,361,657 (GRCm39)	F436S	probably damaging	Het
Lman1	T	C	18: 66,124,755 (GRCm39)	D328G	probably benign	Het
Lox	A	G	18: 52,661,379 (GRCm39)	C232R	probably damaging	Het
Lrrc59	T	C	11: 94,529,421 (GRCm39)	V165A	probably benign	Het
Map9	A	G	3: 82,287,528 (GRCm39)	D50G	probably damaging	Het
Mcf2l	T	C	8: 12,965,982 (GRCm39)	F3L	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nin	G	A	12: 70,090,569 (GRCm39)	Q949*	probably null	Het
Nlgn3	A	G	X: 100,363,639 (GRCm39)	H636R	probably benign	Het
Notch2	A	G	3: 98,006,863 (GRCm39)	D411G	possibly damaging	Het
Or4c52	A	G	2: 89,845,364 (GRCm39)	Y30C	probably damaging	Het
Or5b24	G	C	19: 12,912,332 (GRCm39)	A77P	probably damaging	Het
Pate7	T	A	9: 35,688,418 (GRCm39)	I56F	probably benign	Het
Plekha7	A	G	7: 115,739,916 (GRCm39)	V579A	probably damaging	Het
Prrc2c	T	C	1: 162,533,528 (GRCm39)		probably benign	Het
Rab7b	T	C	1: 131,624,806 (GRCm39)		probably null	Het
Reg3b	G	T	6: 78,349,197 (GRCm39)		probably null	Het
Rgs20	A	G	1: 4,980,795 (GRCm39)	Y177H	probably damaging	Het
Ripk3	G	T	14: 56,022,786 (GRCm39)	N379K	probably benign	Het
Rnf220	G	T	4: 117,164,765 (GRCm39)	Q7K	probably benign	Het
Ros1	T	A	10: 52,000,199 (GRCm39)	K1109*	probably null	Het
Slc22a7	T	G	17: 46,744,079 (GRCm39)	R460S	probably damaging	Het
Slc4a2	A	G	5: 24,644,326 (GRCm39)	M975V	probably damaging	Het
Slc4a3	A	T	1: 75,533,952 (GRCm39)	I1100F	probably damaging	Het
Smco1	A	G	16: 32,092,950 (GRCm39)	E207G	probably benign	Het
Snrnp200	A	G	2: 127,058,656 (GRCm39)	E369G	probably benign	Het
Spata31d1e	T	C	13: 59,890,434 (GRCm39)	E44G	probably benign	Het
Tcf4	T	A	18: 69,790,924 (GRCm39)	M178K	probably benign	Het
Tex2	T	C	11: 106,458,728 (GRCm39)		probably benign	Het
Tjp1	A	T	7: 64,972,877 (GRCm39)	I521N	probably damaging	Het
Tmem203	A	G	2: 25,146,006 (GRCm39)	T109A	probably benign	Het
Tmem50b	T	C	16: 91,374,917 (GRCm39)	I126V	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ush2a	T	C	1: 188,595,006 (GRCm39)	F3813L	probably benign	Het
Vmn1r203	C	T	13: 22,708,521 (GRCm39)	R101W	probably damaging	Het
Vmn2r79	G	A	7: 86,650,621 (GRCm39)	V136I	probably benign	Het
Wdr38	A	G	2: 38,890,741 (GRCm39)	Y205C	probably damaging	Het
Zfp248	A	G	6: 118,406,264 (GRCm39)	F442L	probably damaging	Het
Znrf4	A	G	17: 56,818,599 (GRCm39)	I236T	probably damaging	Het

Other mutations in Marchf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Marchf1	APN	8	66,871,529 (GRCm39)	missense	possibly damaging	0.88
IGL02468:Marchf1	APN	8	66,871,563 (GRCm39)	missense	probably damaging	1.00
R0391:Marchf1	UTSW	8	66,871,625 (GRCm39)	missense	probably damaging	1.00
R1500:Marchf1	UTSW	8	66,921,042 (GRCm39)	missense	probably damaging	1.00
R2015:Marchf1	UTSW	8	66,574,473 (GRCm39)	missense	probably damaging	0.99
R2184:Marchf1	UTSW	8	66,840,075 (GRCm39)	missense	probably benign	0.07
R2273:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2274:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2275:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2314:Marchf1	UTSW	8	66,574,442 (GRCm39)	start codon destroyed	probably null	0.77
R3114:Marchf1	UTSW	8	66,840,033 (GRCm39)	missense	probably benign
R4458:Marchf1	UTSW	8	66,908,823 (GRCm39)	missense	probably damaging	1.00
R4656:Marchf1	UTSW	8	66,839,071 (GRCm39)	missense	probably benign	0.05
R4773:Marchf1	UTSW	8	66,839,876 (GRCm39)	missense	probably benign	0.03
R4838:Marchf1	UTSW	8	66,921,015 (GRCm39)	missense	probably damaging	1.00
R5073:Marchf1	UTSW	8	66,839,020 (GRCm39)	missense	probably benign	0.03
R5507:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R5575:Marchf1	UTSW	8	66,920,962 (GRCm39)	missense	probably damaging	1.00
R5916:Marchf1	UTSW	8	66,839,763 (GRCm39)	missense	possibly damaging	0.89
R6931:Marchf1	UTSW	8	66,921,144 (GRCm39)	missense	probably benign	0.03
R7350:Marchf1	UTSW	8	66,921,051 (GRCm39)	nonsense	probably null
R7487:Marchf1	UTSW	8	66,908,726 (GRCm39)	missense	probably benign	0.14
R7531:Marchf1	UTSW	8	66,838,989 (GRCm39)	missense	probably benign
R7563:Marchf1	UTSW	8	66,920,965 (GRCm39)	missense	probably damaging	1.00
R7705:Marchf1	UTSW	8	66,921,169 (GRCm39)	missense	probably benign	0.00
R8142:Marchf1	UTSW	8	66,908,778 (GRCm39)	missense	probably benign	0.07
R8337:Marchf1	UTSW	8	66,871,641 (GRCm39)	missense	probably damaging	1.00
R8712:Marchf1	UTSW	8	66,921,000 (GRCm39)	missense	probably damaging	1.00
R9188:Marchf1	UTSW	8	66,908,803 (GRCm39)	nonsense	probably null
R9372:Marchf1	UTSW	8	66,921,145 (GRCm39)	missense	probably benign	0.01
R9477:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R9790:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17
R9791:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CCAACTTCTGGTCATACTGTCATG -3'
(R):5'- ATTTCTCCTTCGCCGAGACAG -3'

Sequencing Primer
(F):5'- GGTCATACTGTCATGTTCATCATTC -3'
(R):5'- CCGAGACAGTCTGAATTTAACCTGG -3'

Posted On

2014-06-23