Mutagenetix > Incidental Mutations

Incidental Mutation 'R0379:March7'

30843

Institutional Source

Beutler Lab

Gene Symbol

March7

Ensembl Gene

ENSMUSG00000026977

Gene Name

membrane-associated ring finger (C3HC4) 7

Synonyms

Axot, Gtrgeo17

MMRRC Submission

038585-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60209887-60250676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60234126 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 249 (S249P)

Ref Sequence

ENSEMBL: ENSMUSP00000099809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067542] [ENSMUST00000102747] [ENSMUST00000102748]

Predicted Effect

probably benign
Transcript: ENSMUST00000067542
AA Change: S249P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: S249P

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102747
AA Change: S249P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: S249P

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102748
AA Change: S249P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: S249P

Domain	Start	End	E-Value	Type
low complexity region	51	65	N/A	INTRINSIC
low complexity region	76	85	N/A	INTRINSIC
low complexity region	139	152	N/A	INTRINSIC
low complexity region	216	234	N/A	INTRINSIC
low complexity region	286	305	N/A	INTRINSIC
low complexity region	324	338	N/A	INTRINSIC
low complexity region	400	414	N/A	INTRINSIC
low complexity region	451	463	N/A	INTRINSIC
RINGv	553	610	2.11e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131813

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134905

Predicted Effect

probably benign
Transcript: ENSMUST00000142485

SMART Domains

Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977

Domain	Start	End	E-Value	Type
RINGv	15	72	2.11e-21	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143806

Meta Mutation Damage Score

0.0606

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH7 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 (Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Homozygous null mice show premature neural degeneration and defective development of the corpus callosum. Both T cell proliferation and T cell-derived leukaemia inhibitory factor are increased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	T	2: 130,785,546		probably benign	Het
4930512M02Rik	A	G	11: 11,589,365		probably benign	Het
Apba1	A	C	19: 23,934,830	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,860,400		probably null	Het
Arsb	T	C	13: 93,940,627	S501P	probably benign	Het
Atp10b	A	G	11: 43,254,314	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,199,736	I126T	possibly damaging	Het
Brd9	T	C	13: 73,942,683		probably benign	Het
Cd93	T	C	2: 148,441,510		probably benign	Het
Chd5	A	G	4: 152,383,321	K1692R	probably benign	Het
Clcn4	T	C	7: 7,296,792	T13A	probably damaging	Het
Clec14a	A	G	12: 58,268,794	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,718,440	V97A	probably benign	Het
Col24a1	G	A	3: 145,524,142	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,641,440	T180S	probably benign	Het
Cybrd1	T	C	2: 71,129,755	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,621,474	V468M	probably damaging	Het
Dlk1	A	G	12: 109,455,059		probably benign	Het
Dnah7b	A	T	1: 46,140,176	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,668,250	E376A	possibly damaging	Het
Etl4	T	A	2: 20,807,354	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106	T238A	probably benign	Het
Fer1l6	A	G	15: 58,548,338	I33M	probably benign	Het
Fndc3a	A	G	14: 72,556,609	S830P	probably damaging	Het
Fras1	C	T	5: 96,755,509	R3082*	probably null	Het
Galnt13	T	C	2: 55,060,492	V395A	possibly damaging	Het
Gm10334	T	G	6: 41,445,256		probably benign	Het
Gpd2	C	T	2: 57,345,263	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,459,002		probably null	Het
Hydin	A	G	8: 110,509,127		probably benign	Het
Ints5	G	T	19: 8,897,133	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,670	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,479	A67T	probably benign	Het
Lrp1	T	G	10: 127,594,969	T404P	probably damaging	Het
Mcm10	T	A	2: 5,008,623	K66M	probably benign	Het
Mtmr7	C	A	8: 40,551,601	D645Y	probably damaging	Het
Muc6	T	A	7: 141,636,955	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,369,295		probably benign	Het
Myo18a	G	A	11: 77,850,806	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,443,075	L957S	probably damaging	Het
Ncoa3	T	C	2: 166,054,502	S442P	probably damaging	Het
Olfr1093	G	A	2: 86,785,735	E2K	probably benign	Het
Olfr850	T	A	9: 19,477,480	T257S	possibly damaging	Het
Olfr986	G	A	9: 40,187,433	G106D	probably damaging	Het
Pdcd6	G	T	13: 74,309,712	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 109,027,742		probably benign	Het
Pfkm	A	G	15: 98,126,314	H401R	probably benign	Het
Phldb2	C	A	16: 45,781,451	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,863,114	M49K	probably damaging	Het
Polrmt	A	G	10: 79,737,611	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 34,985,078	N64S	probably benign	Het
Psg16	T	C	7: 17,130,658	S393P	probably benign	Het
Rundc1	C	T	11: 101,425,147	T15I	probably benign	Het
Scaf11	A	G	15: 96,431,816	L143S	probably damaging	Het
Sephs1	A	G	2: 4,899,560	T250A	probably benign	Het
Serpinf1	T	G	11: 75,413,945	I197L	probably benign	Het
Siglec1	C	T	2: 131,074,525		probably benign	Het
Slc28a1	G	A	7: 81,138,177	V271I	probably benign	Het
Sntg1	T	C	1: 8,782,824	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,359,736		probably benign	Het
Suclg1	T	C	6: 73,256,228	I51T	possibly damaging	Het
Syne1	C	T	10: 5,541,989	R9Q	probably damaging	Het
Trim47	T	A	11: 116,106,518	H470L	probably damaging	Het
Ttc41	T	A	10: 86,712,977	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 140,032,192	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,641,116	T474M	probably damaging	Het
Ubr5	A	T	15: 38,018,957	N777K	probably benign	Het
Ush2a	T	C	1: 188,451,819	L1440P	probably damaging	Het
Usp28	A	C	9: 49,024,067	D458A	possibly damaging	Het
Vcan	A	T	13: 89,703,546	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,756,846	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,286,478	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,728,139	I549N	probably damaging	Het
Vps33b	T	A	7: 80,283,414		probably null	Het
Zfp516	A	T	18: 82,987,670	K900*	probably null	Het
Zfp974	T	A	7: 27,910,932	N456I	probably damaging	Het

Other mutations in March7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01761:March7	APN	2	60234195	missense	probably benign	0.01
IGL02001:March7	APN	2	60234891	missense	possibly damaging	0.95
IGL02927:March7	APN	2	60236918	missense	probably damaging	1.00
PIT4687001:March7	UTSW	2	60232278	missense	probably damaging	1.00
R1722:March7	UTSW	2	60234182	missense	probably damaging	1.00
R1755:March7	UTSW	2	60234921	missense	probably benign
R1759:March7	UTSW	2	60234544	missense	probably damaging	1.00
R1809:March7	UTSW	2	60232293	missense	probably benign	0.16
R2018:March7	UTSW	2	60229040	nonsense	probably null
R2226:March7	UTSW	2	60229846	missense	probably benign	0.13
R2227:March7	UTSW	2	60229846	missense	probably benign	0.13
R2471:March7	UTSW	2	60236900	missense	possibly damaging	0.80
R3724:March7	UTSW	2	60229745	missense	probably benign	0.10
R4349:March7	UTSW	2	60234195	missense	probably benign	0.01
R4667:March7	UTSW	2	60241050	nonsense	probably null
R5365:March7	UTSW	2	60233914	missense	possibly damaging	0.48
R5524:March7	UTSW	2	60245303	intron	probably benign
R5860:March7	UTSW	2	60236843	missense	probably damaging	1.00
R5883:March7	UTSW	2	60234442	missense	probably damaging	1.00
R5945:March7	UTSW	2	60240987	missense	probably damaging	1.00
R5992:March7	UTSW	2	60245220	missense	probably benign	0.14
R6937:March7	UTSW	2	60240966	missense	probably damaging	1.00
R6944:March7	UTSW	2	60234243	missense	probably benign	0.08
R6992:March7	UTSW	2	60229084	critical splice donor site	probably null
R7337:March7	UTSW	2	60240845	splice site	probably null
R7448:March7	UTSW	2	60247514	critical splice donor site	probably null
R7577:March7	UTSW	2	60229704	nonsense	probably null
R7712:March7	UTSW	2	60234990	nonsense	probably null
R7863:March7	UTSW	2	60241022	missense	probably benign	0.35
R8281:March7	UTSW	2	60234529	missense	probably benign	0.02
R8469:March7	UTSW	2	60234326	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- CCCTAGTCTTTCAGTTTGGCAGGAG -3'
(R):5'- ACTGTGAAGTCAGGGTTCTCGGAG -3'

Sequencing Primer
(F):5'- CTTCATATTCACAGGGAGCAAG -3'
(R):5'- AGATCTTGTATTCAAGGAATCTTGAC -3'

Posted On

2013-04-24