Mutagenetix > Incidental Mutation

Incidental Mutation 'R9790:March1'

735881

Institutional Source

Beutler Lab

Gene Symbol

March1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane-associated ring finger (C3HC4) 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9790 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

65617900-66471637 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 66276687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 46 (A46E)

Ref Sequence

ENSEMBL: ENSMUSP00000105884 (fasta)

Gene Model

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

AlphaFold

Q6NZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000072482
AA Change: A42E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469
AA Change: A42E

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
AA Change: A46E

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469
AA Change: A46E

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: ENSMUST00000110255
AA Change: A46E

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469
AA Change: A46E

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: A46E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: A46E

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
AA Change: A46E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469
AA Change: A46E

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
AA Change: A42E

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469
AA Change: A42E

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
AA Change: A46E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469
AA Change: A46E

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	T	A	11: 97,775,768	I31F	probably benign	Het
Abcb1a	T	C	5: 8,698,604	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,322,259	I549N	probably damaging	Het
Agpat2	A	G	2: 26,596,383	Y134H	probably damaging	Het
Alms1	A	G	6: 85,619,443	D417G	probably benign	Het
Apol11b	T	A	15: 77,635,275	I202F	probably benign	Het
Arap1	C	A	7: 101,388,169	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,793,364		probably null	Het
Asap3	A	T	4: 136,234,603	N285I	probably damaging	Het
Aspm	A	T	1: 139,480,637	I2421F	probably damaging	Het
Banp	C	A	8: 121,974,546	D17E	probably benign	Het
Bsx	T	G	9: 40,877,609	V154G	probably damaging	Het
Cacnb1	T	C	11: 98,009,360	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,533,957		probably null	Het
Ccdc187	T	C	2: 26,281,215	H417R	probably benign	Het
Cct4	T	A	11: 22,999,070	M272K	probably damaging	Het
Chd9	A	G	8: 91,033,789	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,028	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,251,183	M368K	probably damaging	Het
Dhx32	A	G	7: 133,724,538	F527L	probably benign	Het
Foxk1	T	C	5: 142,401,984	V154A	probably damaging	Het
Frem3	G	A	8: 80,613,261	E728K	probably benign	Het
Garem2	C	A	5: 30,114,749	A403E	probably benign	Het
Gemin5	G	A	11: 58,130,020	Q1114*	probably null	Het
Gm11567	C	T	11: 99,879,448	R71C	unknown	Het
Gm13272	T	C	4: 88,780,205	V119A	probably benign	Het
Gpc6	T	A	14: 116,926,023	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,615,299	F785V	probably damaging	Het
Hormad1	T	C	3: 95,587,382	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,191,840		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Il17ra	C	T	6: 120,482,279	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,842,612	S80P	probably benign	Het
Klhdc2	T	A	12: 69,300,221	N53K	probably benign	Het
Klhl30	C	T	1: 91,354,367	P230L	probably benign	Het
Mast4	T	C	13: 102,754,197	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,530,752	V53A	probably benign	Het
Myh11	T	A	16: 14,208,128	E1326V		Het
Myh3	A	G	11: 67,101,179	E1850G	probably damaging	Het
Myo16	A	G	8: 10,569,925	D1492G	unknown	Het
Myo3b	C	A	2: 70,349,943	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,562,148	Q1379L	probably null	Het
Olfr1500	A	G	19: 13,827,550	I282T	probably benign	Het
Olfr948	C	T	9: 39,319,519	V32I	probably benign	Het
Osbpl6	T	G	2: 76,555,017	L265R	probably damaging	Het
Pld4	A	G	12: 112,768,428	T440A	probably damaging	Het
Prr14	T	C	7: 127,471,956	M1T	probably null	Het
Ptger4	A	T	15: 5,243,697	M1K	probably null	Het
Ptpn22	A	T	3: 103,888,526	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,968,023	W170R	probably damaging	Het
Specc1l	A	G	10: 75,230,769	I17M	probably benign	Het
Sptbn4	C	G	7: 27,372,237	G1601R	probably damaging	Het
Sqor	C	T	2: 122,784,992	P11L	probably benign	Het
Stac2	T	C	11: 98,043,623	D85G	probably benign	Het
Svs2	G	A	2: 164,236,998	Q330*	probably null	Het
Taar7e	A	G	10: 24,037,656	I15V	probably benign	Het
Tcf4	A	T	18: 69,636,936	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,888,839	N1873S	probably damaging	Het
Tert	T	A	13: 73,627,529	V133D	probably benign	Het
Tfap2a	T	A	13: 40,717,182	N410I	probably damaging	Het
Tjp3	A	T	10: 81,273,860	D836E	probably benign	Het
Tox3	A	T	8: 90,248,578	M475K	unknown	Het
Traf4	A	T	11: 78,160,153	D392E	probably damaging	Het
Vav2	A	G	2: 27,291,813	L338P	probably damaging	Het
Vmn1r81	T	C	7: 12,260,186	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,847,543	V413E	probably damaging	Het
Wdr7	A	T	18: 63,777,988	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,688,647	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,399,862	H1718Q	probably damaging	Het
Zfp945	G	A	17: 22,852,254	H245Y	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
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
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
R9791:March1	UTSW	8	66276687	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ATTGCTAGCTTAGTTGCTACCTTG -3'
(R):5'- CCCAGTACATAGTCTTTAGTACTCTG -3'

Sequencing Primer
(F):5'- GTTGCTACCTTGAAGTTAATTGGAAC -3'
(R):5'- CTCTGAAAGTAGCAAATTACCTTCTC -3'

Posted On

2022-11-14