Mutagenetix > Incidental Mutation

Incidental Mutation 'R5916:March1'

461333

Institutional Source

Beutler Lab

Gene Symbol

March1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane-associated ring finger (C3HC4) 1

Synonyms

MMRRC Submission

044113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65617900-66471637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 66387111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 182 (R182L)

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: R182L

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: R182L

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

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

noncoding transcript
Transcript: ENSMUST00000132019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152320

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: 99.8%
3x: 99.3%
10x: 97.2%
20x: 92.4%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,578	T374I	probably damaging	Het
4930563D23Rik	T	A	16: 92,320,671	E243V	probably damaging	Het
Aadacl4	A	T	4: 144,622,980	N269I	possibly damaging	Het
Abcc1	G	T	16: 14,465,142	V1161F	possibly damaging	Het
Adam3	A	T	8: 24,684,539		probably null	Het
Agt	A	T	8: 124,563,858	S237T	possibly damaging	Het
Ano3	A	T	2: 110,681,836	F674L	probably benign	Het
Asb2	G	T	12: 103,323,876	A504E	probably damaging	Het
Atp13a1	T	A	8: 69,807,098	I1113N	probably damaging	Het
Atxn7l2	T	C	3: 108,205,662		probably null	Het
Bambi	A	G	18: 3,511,463	T95A	probably benign	Het
Ccdc173	A	T	2: 69,789,462	M1K	probably null	Het
Clrn1	T	C	3: 58,846,362	T193A	probably benign	Het
Colgalt2	T	A	1: 152,504,122	D437E	probably damaging	Het
Dchs1	C	A	7: 105,759,166	A1820S	probably damaging	Het
Dnah12	T	A	14: 26,706,918	I233N	possibly damaging	Het
Dsc3	T	C	18: 19,987,020	N194D	probably damaging	Het
Dync2h1	A	G	9: 7,102,309		probably null	Het
Erich3	A	T	3: 154,695,823	R36S	probably damaging	Het
Fmnl3	A	T	15: 99,321,828	C680S	probably damaging	Het
Focad	T	C	4: 88,357,541	L1129P	unknown	Het
Fzd3	G	A	14: 65,202,729	T664I	probably benign	Het
Glb1l3	T	C	9: 26,854,736	I129V	probably benign	Het
Heatr1	T	C	13: 12,434,471	F1950S	probably damaging	Het
Herc6	G	A	6: 57,646,203	G597E	probably benign	Het
Hmcn2	T	A	2: 31,396,139	V2101D	probably damaging	Het
Il17re	T	A	6: 113,470,123	C612S	probably damaging	Het
Il1f9	T	G	2: 24,192,794	*194E	probably null	Het
Junb	T	C	8: 84,977,876	Y185C	probably benign	Het
Lrriq1	G	A	10: 103,221,382	Q186*	probably null	Het
Lrrn2	T	A	1: 132,937,800	V201E	probably damaging	Het
Ly6l	A	T	15: 75,451,178	T68S	probably benign	Het
Megf6	A	G	4: 154,249,425		probably null	Het
Mga	T	A	2: 119,964,312	S2708T	probably benign	Het
Mx1	T	C	16: 97,451,733	T396A	probably benign	Het
Naip5	A	C	13: 100,222,701	S676A	probably benign	Het
Npepl1	G	T	2: 174,121,544	W456C	probably benign	Het
Ntrk2	A	G	13: 58,808,729	M1V	probably null	Het
Nufip1	T	C	14: 76,134,900	*485Q	probably null	Het
Ocln	T	G	13: 100,506,179	D216A	possibly damaging	Het
Olfr108	C	T	17: 37,445,679	L53F	probably benign	Het
Olfr1308	A	G	2: 111,960,830	M81T	probably damaging	Het
Olfr417	A	T	1: 174,369,132	T72S	probably damaging	Het
Olfr544	G	A	7: 102,484,379	S247F	probably damaging	Het
Papd4	T	C	13: 93,175,547	D215G	probably damaging	Het
Ptprq	A	T	10: 107,523,513	M2243K	probably damaging	Het
Rad51b	C	T	12: 79,325,082	Q190*	probably null	Het
Rfx8	T	C	1: 39,688,619	Y182C	probably benign	Het
Rpgrip1l	C	A	8: 91,252,913	R967L	possibly damaging	Het
Scube2	A	G	7: 109,831,724	Y423H	possibly damaging	Het
Sipa1l2	A	T	8: 125,468,573	Y809N	probably damaging	Het
Slc35f1	C	A	10: 52,933,221	Y101*	probably null	Het
Tbc1d22a	A	G	15: 86,214,608	K12E	possibly damaging	Het
Tmcc2	C	T	1: 132,357,691	V646M	probably damaging	Het
Tpp1	A	T	7: 105,749,380	M243K	probably damaging	Het
Trappc12	A	G	12: 28,691,514	L732P	probably damaging	Het
U2af2	A	T	7: 5,079,180		probably null	Het
Utrn	T	A	10: 12,665,051	N1877Y	probably damaging	Het
Vsir	C	T	10: 60,358,037	T93I	probably damaging	Het
Zkscan5	T	A	5: 145,205,302	M3K	possibly damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	probably damaging	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
R6931:March1	UTSW	8	66468492	missense	probably benign	0.03
R7350:March1	UTSW	8	66468399	nonsense	probably null
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'- GCCATGCTAGAAAAGAGTCTGG -3'
(R):5'- ACTGCATTCTTGGTACCTTATGAC -3'

Sequencing Primer
(F):5'- GGGTTTCTCAGAGATATGAACATGC -3'
(R):5'- GGTACCTTATGACTTTTCCTCTACAG -3'

Posted On

2017-02-28