Mutagenetix > Incidental Mutation

Incidental Mutation 'R2273:March1'

242649

Institutional Source

Beutler Lab

Gene Symbol

March1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane-associated ring finger (C3HC4) 1

Synonyms

MMRRC Submission

040273-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R2273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65617900-66471637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66387499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 311 (N311K)

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

probably benign
Transcript: ENSMUST00000110256
AA Change: N311K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: N311K

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Ank3	T	A	10: 69,950,942		probably null	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atp11b	A	G	3: 35,828,613	I606V	probably benign	Het
Atp6v1h	T	A	1: 5,117,476	D222E	probably damaging	Het
Bco1	G	A	8: 117,108,783		probably null	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,157,547	Q73L	probably damaging	Het
Cdc42bpb	C	T	12: 111,302,167	E1200K	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Cfh	C	T	1: 140,102,825	V824M	probably damaging	Het
Ciapin1	A	T	8: 94,831,787	V99E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Cpxm2	TGCAGCAGCAGCAGCAGCAG	TGCAGCAGCAGCAGCAG	7: 132,059,852		probably benign	Het
Crim1	T	C	17: 78,355,179		probably null	Het
D7Ertd443e	A	G	7: 134,270,201	S644P	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Fat3	T	C	9: 15,915,262	T4465A	probably benign	Het
Fdxacb1	A	G	9: 50,772,021	E428G	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hivep2	T	C	10: 14,132,443	M1595T	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Ift88	A	G	14: 57,488,936	K684E	possibly damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnc1	A	G	7: 46,427,802	N343D	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Lrig1	A	T	6: 94,608,143	D840E	probably damaging	Het
Lrrc7	A	G	3: 158,187,059	S318P	probably damaging	Het
Map1b	A	C	13: 99,432,084	D1376E	unknown	Het
Mier2	T	C	10: 79,544,534	I321V	probably damaging	Het
Mrc1	G	A	2: 14,325,372	R1264Q	probably damaging	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Olfr314	T	C	11: 58,786,666	V144A	probably benign	Het
Olfr781	T	C	10: 129,333,457	I192T	probably benign	Het
Olfr998	G	T	2: 85,590,588	G16V	probably damaging	Het
Pcdhb4	C	T	18: 37,308,926	L430F	probably damaging	Het
Ptpn2	T	G	18: 67,677,802	M256L	probably damaging	Het
Rph3a	C	T	5: 120,973,304	R71H	probably damaging	Het
Rrm2b	T	A	15: 37,945,051	D148V	possibly damaging	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Sult1d1	T	G	5: 87,556,028	N266T	probably damaging	Het
Tjp2	G	T	19: 24,112,807	H624N	probably benign	Het
Tmcc3	G	A	10: 94,578,915	V160I	probably damaging	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vldlr	A	T	19: 27,248,015	T859S	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r94	T	A	17: 18,257,331	M273L	probably benign	Het
Zc3h6	T	C	2: 129,014,709	Y570H	probably benign	Het
Zhx2	A	G	15: 57,823,169	S645G	probably benign	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
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
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'- AGAATGCAGTCATCCACCGC -3'
(R):5'- GCCCATTTCTATTCCAGGATAAGTC -3'

Sequencing Primer
(F):5'- TCCTTGGTGGAGAGGACAC -3'
(R):5'- AAAACCCAATCCCATGTTTTTGTACC -3'

Posted On

2014-10-16