Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:March1'

585261

Institutional Source

Beutler Lab

Gene Symbol

March1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane-associated ring finger (C3HC4) 1

Synonyms

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65617900-66471637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66468313 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 214 (Q214L)

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 damaging
Transcript: ENSMUST00000039540
AA Change: Q204L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469
AA Change: Q204L

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 damaging
Transcript: ENSMUST00000072482
AA Change: Q214L

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

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: Q214L

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 damaging
Transcript: ENSMUST00000098708
AA Change: Q214L

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

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: Q214L

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: ENSMUST00000110253
AA Change: Q208L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469
AA Change: Q208L

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 damaging
Transcript: ENSMUST00000110255
AA Change: Q214L

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

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: Q214L

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 damaging
Transcript: ENSMUST00000110256
AA Change: Q469L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: Q469L

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 damaging
Transcript: ENSMUST00000110258
AA Change: Q218L

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

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: Q218L

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 damaging
Transcript: ENSMUST00000110259
AA Change: Q214L

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

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: Q214L

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 damaging
Transcript: ENSMUST00000178982
AA Change: Q218L

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

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: Q218L

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,717,328	F8L	probably benign	Het
Aadacl3	A	G	4: 144,457,894	I98T	probably damaging	Het
Ahnak	T	C	19: 9,011,165	I3271T	probably damaging	Het
Aox1	G	A	1: 58,047,145	V70I	probably benign	Het
Ap1g2	A	G	14: 55,099,749	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857	254	probably null	Het
Cacna1e	T	C	1: 154,471,416	K1064E	probably benign	Het
Capn11	T	A	17: 45,633,965	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220	I48V	probably damaging	Het
Ces1d	T	A	8: 93,178,039	I358F	probably benign	Het
Clgn	A	T	8: 83,420,556	N379I	probably damaging	Het
Cym	T	C	3: 107,214,232	Y248C	probably damaging	Het
Epha8	T	C	4: 136,938,789	D352G	possibly damaging	Het
Eya2	T	C	2: 165,716,130		probably null	Het
Fam219a	A	C	4: 41,569,208	V10G	probably benign	Het
Fbxl5	C	T	5: 43,821,549	V20I	probably benign	Het
Fscb	T	C	12: 64,473,285	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,660,825		probably null	Het
Gm13088	A	T	4: 143,654,105	Y449*	probably null	Het
Helt	T	C	8: 46,293,593		probably benign	Het
Igkv8-27	G	T	6: 70,171,903	T89K	probably benign	Het
Ipo5	T	A	14: 120,946,155	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,392,094	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,741,854	P936S	probably benign	Het
Klrd1	A	G	6: 129,593,738	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,500,273	V1267A	probably damaging	Het
Lrrc29	A	G	8: 105,315,756	C147R	probably benign	Het
Mlip	G	T	9: 77,112,997	H52N	probably damaging	Het
Oas1e	T	C	5: 120,788,956	R229G	probably benign	Het
Ogfr	T	A	2: 180,592,507		probably null	Het
Olfr1023	T	A	2: 85,887,138	Y113N	probably damaging	Het
Olfr1279	T	C	2: 111,306,789	F195L	probably benign	Het
Pde4d	T	C	13: 109,951,007	I636T	probably benign	Het
Pex5l	C	T	3: 32,954,476	V426I	probably damaging	Het
Pmfbp1	A	G	8: 109,525,374	K384E	possibly damaging	Het
Prl6a1	T	G	13: 27,314,238		probably null	Het
Prss23	A	T	7: 89,509,830	W344R	probably damaging	Het
Ptar1	T	A	19: 23,720,316	D397E	probably benign	Het
Qrsl1	G	A	10: 43,876,517	R437C	probably damaging	Het
Rab6a	G	T	7: 100,608,197		probably benign	Het
Samd14	C	A	11: 95,021,413	S205R	probably benign	Het
Sel1l3	T	C	5: 53,185,984	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,803,972	L669I	probably benign	Het
Ssc4d	A	G	5: 135,963,033	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,219,010	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,226,248	F417V	probably benign	Het
Top2a	T	C	11: 99,016,179	D212G	probably damaging	Het
Trim39	A	T	17: 36,260,915	V317E	probably damaging	Het
Uncx	G	A	5: 139,544,506	R113H	probably damaging	Het
Usp4	A	G	9: 108,379,344	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,291,026	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,488,201	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,275,349	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,509,901	W829R	probably damaging	Het
Zfp574	C	A	7: 25,081,352	H600N	possibly 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
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
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'- GCCTAACATGGTTCAGGGAAGC -3'
(R):5'- TATAACCTCAGGTGGGGCTC -3'

Sequencing Primer
(F):5'- TTCAGGGAAGCAAGTGTACTC -3'
(R):5'- CAGTTGGCAGTGTATTTGAACC -3'

Posted On

2019-10-17