Mutagenetix > Incidental Mutation

Incidental Mutation 'R5992:March7'

480862

Institutional Source

Beutler Lab

Gene Symbol

March7

Ensembl Gene

ENSMUSG00000026977

Gene Name

membrane-associated ring finger (C3HC4) 7

Synonyms

Axot, Gtrgeo17

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R5992 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60209887-60250676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 60245220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 674 (N674K)

Ref Sequence

ENSEMBL: ENSMUSP00000099809 (fasta)

Gene Model

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

AlphaFold

Q9WV66

Predicted Effect

probably benign
Transcript: ENSMUST00000067542
AA Change: N674K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000068961
Gene: ENSMUSG00000026977
AA Change: N674K

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: N674K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099808
Gene: ENSMUSG00000026977
AA Change: N674K

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: N674K

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099809
Gene: ENSMUSG00000026977
AA Change: N674K

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: ENSMUST00000126986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136367

Predicted Effect

unknown
Transcript: ENSMUST00000142485
AA Change: N135K

SMART Domains

Protein: ENSMUSP00000116925
Gene: ENSMUSG00000026977
AA Change: N135K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143806

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,508,623	L188*	probably null	Het
Acod1	C	T	14: 103,055,035	R332C	probably damaging	Het
Adamts3	T	A	5: 89,691,335	K852M	probably damaging	Het
Adm	A	T	7: 110,627,696		probably benign	Het
Aff4	A	G	11: 53,373,010	S286G	probably damaging	Het
Ank2	A	G	3: 126,959,651		probably null	Het
Aqr	A	T	2: 114,143,049	Y427*	probably null	Het
Arid1b	C	A	17: 4,994,956		probably benign	Het
Arpp21	T	A	9: 112,143,485	R259*	probably null	Het
Cep290	C	T	10: 100,543,321	A55V	possibly damaging	Het
Chsy3	GT	G	18: 59,176,166	163	probably null	Het
Clcn2	T	C	16: 20,713,654	E68G	possibly damaging	Het
Corin	T	A	5: 72,316,389	H699L	probably benign	Het
Cyld	T	C	8: 88,733,053	Y446H	probably damaging	Het
Dcst1	T	A	3: 89,352,576	E613V	probably damaging	Het
Dlk1	T	C	12: 109,455,581	C74R	probably damaging	Het
Dnah12	A	C	14: 26,697,341	K128T	probably benign	Het
Dspp	T	A	5: 104,178,451	S893R	unknown	Het
Dtl	A	T	1: 191,568,572		probably null	Het
F2rl1	T	A	13: 95,514,270	S35C	probably benign	Het
Fcgbp	A	T	7: 28,120,534	Y2562F	probably benign	Het
Fgf10	A	T	13: 118,715,508	D42V	probably benign	Het
Gm10271	A	T	10: 116,972,592	F6L	probably damaging	Het
Gm21190	T	A	5: 15,524,851	E256D	probably damaging	Het
Gm5157	A	G	7: 21,185,421	S66P	probably damaging	Het
Gm884	A	T	11: 103,613,792	M2450K	possibly damaging	Het
Hal	T	G	10: 93,490,916	L138R	probably damaging	Het
Hsd17b3	T	C	13: 64,059,470		probably null	Het
Lrsam1	T	C	2: 32,955,222	T94A	probably benign	Het
Macc1	T	C	12: 119,447,585	V696A	probably damaging	Het
Magi2	G	A	5: 19,227,291	M1I	probably null	Het
Mfap1b	A	G	2: 121,470,295	V34A	probably benign	Het
Mob3b	G	A	4: 35,084,069	S40L	probably benign	Het
Ndufs2	A	T	1: 171,236,418	V386E	probably damaging	Het
Nfic	C	T	10: 81,420,747	A19T	probably damaging	Het
Nfs1	G	A	2: 156,134,453	R174W	probably damaging	Het
Nin	G	T	12: 70,045,524	S670R	possibly damaging	Het
Nrxn1	T	C	17: 90,623,507	I754V	probably benign	Het
Nwd1	T	C	8: 72,653,573		probably null	Het
Olfr1231	T	A	2: 89,303,359	T78S	possibly damaging	Het
Olfr1238	T	A	2: 89,406,879	M67L	probably benign	Het
Olfr575	G	T	7: 102,955,009	N197K	probably benign	Het
Pcdhgb8	A	G	18: 37,763,449	E524G	probably damaging	Het
Phlpp1	A	T	1: 106,318,993	R638*	probably null	Het
Pkmyt1	G	C	17: 23,735,326	W360S	probably benign	Het
Plxnd1	C	A	6: 115,967,787		probably null	Het
Poldip3	A	T	15: 83,129,229	N322K	probably damaging	Het
Prmt3	A	T	7: 49,828,947	I419L	probably benign	Het
Prss36	A	T	7: 127,944,830	V123E	probably damaging	Het
Prss58	A	G	6: 40,897,769	I46T	probably damaging	Het
Rac1	T	C	5: 143,506,998		probably benign	Het
Rb1cc1	A	G	1: 6,233,996	Y36C	probably damaging	Het
Rif1	C	G	2: 52,095,844	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rp1	A	T	1: 4,148,703	F951L	unknown	Het
Rps6ka5	G	T	12: 100,575,250	P417T	possibly damaging	Het
Ryr1	A	G	7: 29,067,637	W2967R	probably damaging	Het
Sacs	T	A	14: 61,205,543	S1679R	probably damaging	Het
Scn1a	A	C	2: 66,335,456	W153G	probably damaging	Het
Serpinb7	A	G	1: 107,445,996	Y114C	probably damaging	Het
Son	T	C	16: 91,658,904	M1513T	probably benign	Het
Spag8	C	T	4: 43,651,534	V447M	probably benign	Het
St3gal2	T	A	8: 110,969,553	Y257N	probably damaging	Het
Tars	A	T	15: 11,397,196	D40E	probably damaging	Het
Tlr3	T	C	8: 45,397,814	H158R	probably benign	Het
Tppp2	G	T	14: 51,918,935	V50L	probably benign	Het
Trrap	T	C	5: 144,810,184	S1503P	probably benign	Het
Ttll4	T	G	1: 74,685,391	S573R	probably damaging	Het
Vmn2r104	A	T	17: 20,029,485	N841K	probably damaging	Het
Vmn2r3	A	T	3: 64,259,647	C688S	probably damaging	Het
Vps16	T	C	2: 130,424,449		probably null	Het
Zfp608	G	A	18: 54,899,248	T540I	probably benign	Het
Zfp775	G	A	6: 48,619,816	R208Q	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
R0379:March7	UTSW	2	60234126	missense	probably benign	0.00
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
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
R8745:March7	UTSW	2	60236809	nonsense	probably null
R8794:March7	UTSW	2	60243671	critical splice donor site	probably null
R9711:March7	UTSW	2	60229831	missense	probably damaging	1.00
R9729:March7	UTSW	2	60234441	nonsense	probably null
R9773:March7	UTSW	2	60234441	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGTGATACTGGTTTCCCCATG -3'
(R):5'- GGTTAAAATTACTTCCTTCCACACC -3'

Sequencing Primer
(F):5'- ACTGGTTTCCCCATGATTAATAATG -3'
(R):5'- ATGTTCAACCTTTATCACCCAAATC -3'

Posted On

2017-06-26