Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:March1'

570505

Institutional Source

Beutler Lab

Gene Symbol

March1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane-associated ring finger (C3HC4) 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65617900-66471637 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 66468399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 243 (K243*)

Ref Sequence

ENSEMBL: ENSMUSP00000105884 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026681] [ENSMUST00000039540] [ENSMUST00000072482] [ENSMUST00000098708] [ENSMUST00000110253] [ENSMUST00000110255] [ENSMUST00000110256] [ENSMUST00000110258] [ENSMUST00000110259] [ENSMUST00000178982]

AlphaFold

Q6NZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000026681

SMART Domains

Protein: ENSMUSP00000026681
Gene: ENSMUSG00000025591

Domain	Start	End	E-Value	Type
Pfam:DUF2962	10	162	1.6e-48	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000039540
AA Change: K233*

SMART Domains

Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469
AA Change: K233*

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 null
Transcript: ENSMUST00000072482
AA Change: K243*

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: K243*

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 null
Transcript: ENSMUST00000098708
AA Change: K243*

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: K243*

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 null
Transcript: ENSMUST00000110253
AA Change: K237*

SMART Domains

Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469
AA Change: K237*

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 null
Transcript: ENSMUST00000110255
AA Change: K243*

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: K243*

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 null
Transcript: ENSMUST00000110256
AA Change: K498*

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: K498*

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 null
Transcript: ENSMUST00000110258
AA Change: K247*

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: K247*

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 null
Transcript: ENSMUST00000110259
AA Change: K243*

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: K243*

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 null
Transcript: ENSMUST00000178982
AA Change: K247*

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: K247*

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

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Akap8	T	C	17: 32,316,575	D155G	possibly damaging	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in March1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:March1	APN	8	66418877	missense	possibly damaging	0.88
IGL02468:March1	APN	8	66418911	missense	probably damaging	1.00
R0391:March1	UTSW	8	66418973	missense	probably damaging	1.00
R1500:March1	UTSW	8	66468390	missense	probably damaging	1.00
R1794:March1	UTSW	8	66386942	missense	possibly damaging	0.63
R2015:March1	UTSW	8	66121821	missense	probably damaging	0.99
R2184:March1	UTSW	8	66387423	missense	probably benign	0.07
R2273:March1	UTSW	8	66387499	missense	probably benign	0.15
R2274:March1	UTSW	8	66387499	missense	probably benign	0.15
R2275:March1	UTSW	8	66387499	missense	probably benign	0.15
R2314:March1	UTSW	8	66121790	start codon destroyed	probably null	0.77
R3114:March1	UTSW	8	66387381	missense	probably benign
R4458:March1	UTSW	8	66456171	missense	probably damaging	1.00
R4656:March1	UTSW	8	66386419	missense	probably benign	0.05
R4773:March1	UTSW	8	66387224	missense	probably benign	0.03
R4838:March1	UTSW	8	66468363	missense	probably damaging	1.00
R5073:March1	UTSW	8	66386368	missense	probably benign	0.03
R5507:March1	UTSW	8	66418890	missense	probably damaging	1.00
R5575:March1	UTSW	8	66468310	missense	probably damaging	1.00
R5916:March1	UTSW	8	66387111	missense	possibly damaging	0.89
R6931:March1	UTSW	8	66468492	missense	probably benign	0.03
R7487:March1	UTSW	8	66456074	missense	probably benign	0.14
R7531:March1	UTSW	8	66386337	missense	probably benign
R7563:March1	UTSW	8	66468313	missense	probably damaging	1.00
R7705:March1	UTSW	8	66468517	missense	probably benign	0.00
R8142:March1	UTSW	8	66456126	missense	probably benign	0.07
R8337:March1	UTSW	8	66418989	missense	probably damaging	1.00
R8712:March1	UTSW	8	66468348	missense	probably damaging	1.00
R9188:March1	UTSW	8	66456151	nonsense	probably null
R9372:March1	UTSW	8	66468493	missense	probably benign	0.01
R9477:March1	UTSW	8	66418890	missense	probably damaging	1.00
R9790:March1	UTSW	8	66276687	missense	probably benign	0.17
R9791:March1	UTSW	8	66276687	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CTCTTTCTCAAAGGTGTGCTGG -3'
(R):5'- TTAAGAAGCCACCAGAGCAG -3'

Sequencing Primer
(F):5'- CTCAAAGGTGTGCTGGAATGGC -3'
(R):5'- AAGCACTTCTGTTGGTAGTGGC -3'

Posted On

2019-09-13