Mutagenetix > Incidental Mutation

Incidental Mutation 'R8962:March10'

682413

Institutional Source

Beutler Lab

Gene Symbol

March10

Ensembl Gene

ENSMUSG00000078627

Gene Name

membrane-associated ring finger (C3HC4) 10

Synonyms

4933417C16Rik, OTTMUSG00000002847, Rnf190

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8962 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105360798-105456735 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 105389989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 490 (S490*)

Ref Sequence

ENSEMBL: ENSMUSP00000121919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049995] [ENSMUST00000138977]

AlphaFold

E9PX79

Predicted Effect

probably null
Transcript: ENSMUST00000049995
AA Change: S490*

SMART Domains

Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: S490*

Domain	Start	End	E-Value	Type
low complexity region	36	49	N/A	INTRINSIC
low complexity region	56	71	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
RINGv	638	695	7.45e-22	SMART
low complexity region	728	737	N/A	INTRINSIC
low complexity region	767	781	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000138977
AA Change: S490*

SMART Domains

Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: S490*

Domain	Start	End	E-Value	Type
low complexity region	36	49	N/A	INTRINSIC
low complexity region	56	71	N/A	INTRINSIC
low complexity region	114	130	N/A	INTRINSIC
low complexity region	292	304	N/A	INTRINSIC
RINGv	638	695	7.45e-22	SMART
low complexity region	728	737	N/A	INTRINSIC
low complexity region	767	781	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.4%

Validation Efficiency

99% (86/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH10 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,308,875	M120L	probably benign	Het
6430573F11Rik	A	G	8: 36,505,575	K60E	probably damaging	Het
Abat	A	G	16: 8,578,302	T48A	probably damaging	Het
Abca8a	A	T	11: 110,078,808	I314N	probably damaging	Het
Abr	A	T	11: 76,461,329	V108D	probably damaging	Het
Adamts17	T	G	7: 67,075,309	L162V	probably damaging	Het
Adamts6	A	T	13: 104,297,391	K109N	probably damaging	Het
Ago3	A	G	4: 126,347,802	F68S	probably damaging	Het
Aifm3	T	C	16: 17,506,336		probably null	Het
Ankrd26	T	C	6: 118,535,143	E506G	probably benign	Het
Apaf1	A	G	10: 91,067,204	L185P	probably damaging	Het
Atp8b3	G	T	10: 80,520,062	T1272K	probably benign	Het
Cars2	A	G	8: 11,537,304	V193A	probably benign	Het
Ccr8	A	T	9: 120,094,547	I243F	possibly damaging	Het
Col12a1	A	G	9: 79,631,619	V2465A	probably damaging	Het
Ctbp1	T	C	5: 33,259,272	N127S	probably benign	Het
Ddx10	A	G	9: 53,238,077	S117P	probably damaging	Het
Dgkb	T	C	12: 38,139,495		probably null	Het
Dnah11	T	A	12: 117,952,538	D3520V	probably damaging	Het
Dnah11	C	T	12: 117,954,895	D1530N	probably damaging	Het
Dock5	T	C	14: 67,757,191	T1807A	probably benign	Het
Drd3	C	T	16: 43,821,479	T386I	probably damaging	Het
Dsg1b	A	G	18: 20,409,259	N941S	probably damaging	Het
Enpp3	T	C	10: 24,820,615	T141A	probably benign	Het
Esyt1	A	T	10: 128,520,697	C360S	possibly damaging	Het
Ethe1	T	A	7: 24,606,257	V143D	probably damaging	Het
Fam170b	A	G	14: 32,835,379	D57G	probably benign	Het
Fam53c	T	C	18: 34,768,176	S49P	probably damaging	Het
Fbp1	G	A	13: 62,875,253	L77F	probably benign	Het
Gm10471	T	G	5: 26,085,747	E142A	probably benign	Het
Gm17093	A	G	14: 44,520,692	E110G		Het
Gm21976	G	T	13: 98,287,313		silent	Het
Golgb1	T	C	16: 36,913,616	I1075T	probably damaging	Het
Grip2	T	C	6: 91,777,410	D628G	probably damaging	Het
Gtpbp1	G	T	15: 79,717,728	L557F	probably benign	Het
Ighv12-3	A	T	12: 114,366,584	F97Y	probably benign	Het
Itga8	T	C	2: 12,191,234	H635R	possibly damaging	Het
Itgb7	A	G	15: 102,218,602	L466S	probably damaging	Het
Klc2	T	C	19: 5,111,836	D277G	probably benign	Het
Ktn1	A	G	14: 47,663,791	E2G	probably damaging	Het
Lcmt1	T	A	7: 123,401,446	Y68N	probably damaging	Het
Mterf1b	A	T	5: 4,196,437	Y26F	probably benign	Het
Myo18b	T	A	5: 112,858,480	I855F	probably benign	Het
Nek4	G	A	14: 30,953,958	M83I	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	T	C	5: 117,879,340	V256A	probably benign	Het
Nr1h2	T	C	7: 44,552,039	T50A	probably benign	Het
Olfr296-ps1	T	A	7: 86,562,109	*126K	probably null	Het
Olfr732	A	C	14: 50,281,359	M298R	possibly damaging	Het
Ovol2	G	C	2: 144,305,914	R172G	probably damaging	Het
Parp14	A	G	16: 35,856,817	I927T	probably damaging	Het
Pcdhga7	T	A	18: 37,715,826	H295Q	probably benign	Het
Pkhd1l1	C	T	15: 44,536,895	T2145I	probably damaging	Het
Plekhs1	C	T	19: 56,473,248	T139I	possibly damaging	Het
Rab11fip3	T	A	17: 26,012,033	D746V	probably damaging	Het
Rnf214	A	C	9: 45,898,430		probably null	Het
Rtn4ip1	A	T	10: 43,946,419		probably null	Het
S1pr1	T	C	3: 115,711,920	R342G		Het
Serpina1f	T	C	12: 103,689,872	S366G	probably benign	Het
Sestd1	A	T	2: 77,212,364	M282K	probably benign	Het
Siglecf	T	G	7: 43,351,716	V36G	probably damaging	Het
Slc1a1	T	C	19: 28,909,469	V410A	probably damaging	Het
Slc38a4	C	A	15: 97,019,803	D14Y	probably benign	Het
Slk	C	T	19: 47,622,309	T806M	probably damaging	Het
Slurp2	C	A	15: 74,743,400	V48F	possibly damaging	Het
Socs1	A	G	16: 10,784,778	S32P	possibly damaging	Het
Son	T	C	16: 91,658,169	V1268A	possibly damaging	Het
Sp7	C	A	15: 102,366,445		probably benign	Het
Taar7b	T	G	10: 24,000,461	S175A	probably benign	Het
Tet2	T	C	3: 133,488,043	N210S	probably benign	Het
Tkfc	T	C	19: 10,593,336	D492G	probably damaging	Het
Tmc7	G	A	7: 118,561,005	P203L	probably benign	Het
Tshz2	C	A	2: 169,884,604	F373L	probably damaging	Het
Ttc29	T	A	8: 78,315,707	L307Q	probably damaging	Het
Tubd1	G	A	11: 86,548,833	M1I	probably null	Het
Vmn1r62	T	A	7: 5,675,602	M94K	probably damaging	Het
Vmn2r125	T	C	4: 156,350,891	I188T	possibly damaging	Het
Vmn2r5	T	C	3: 64,491,143	D805G	probably damaging	Het
Vmn2r6	A	T	3: 64,556,155	D419E	probably damaging	Het
Vps39	A	T	2: 120,344,206	Y98*	probably null	Het
Wisp2	C	T	2: 163,825,240	R54*	probably null	Het
Zdbf2	G	A	1: 63,308,003	G1847D	probably benign	Het
Zdhhc6	T	C	19: 55,298,807	E407G	probably benign	Het
Zfp407	A	G	18: 84,558,932	I1352T	probably damaging	Het
Zfp607a	A	G	7: 27,879,361	K619E	possibly damaging	Het
Zfp811	A	T	17: 32,798,648	N139K	probably benign	Het

Other mutations in March10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:March10	APN	11	105402188	missense	possibly damaging	0.82
IGL01461:March10	APN	11	105389605	missense	probably damaging	1.00
IGL01473:March10	APN	11	105389605	missense	probably damaging	1.00
Forward	UTSW	11	105382237	missense	probably damaging	1.00
PIT4142001:March10	UTSW	11	105390520	missense	probably benign	0.17
R0195:March10	UTSW	11	105385525	missense	probably damaging	1.00
R0520:March10	UTSW	11	105389882	missense	probably benign
R0628:March10	UTSW	11	105390160	missense	probably benign	0.00
R1087:March10	UTSW	11	105390662	missense	probably damaging	1.00
R1440:March10	UTSW	11	105390583	missense	probably damaging	1.00
R1802:March10	UTSW	11	105389915	missense	probably benign	0.00
R1855:March10	UTSW	11	105390392	missense	probably benign
R1860:March10	UTSW	11	105397078	missense	probably damaging	0.99
R2504:March10	UTSW	11	105385572	missense	probably damaging	1.00
R3788:March10	UTSW	11	105397079	missense	probably damaging	1.00
R4629:March10	UTSW	11	105389838	missense	probably benign	0.28
R4755:March10	UTSW	11	105364476	intron	probably benign
R4776:March10	UTSW	11	105390037	missense	probably benign	0.42
R5067:March10	UTSW	11	105390107	missense	possibly damaging	0.51
R5192:March10	UTSW	11	105371926	missense	possibly damaging	0.68
R5436:March10	UTSW	11	105402165	missense	possibly damaging	0.92
R5541:March10	UTSW	11	105390131	missense	probably damaging	1.00
R5888:March10	UTSW	11	105402146	missense	possibly damaging	0.92
R5908:March10	UTSW	11	105390239	missense	probably benign	0.00
R5914:March10	UTSW	11	105385482	missense	probably damaging	1.00
R6038:March10	UTSW	11	105402051	missense	probably damaging	0.96
R6178:March10	UTSW	11	105389614	missense	probably damaging	1.00
R6300:March10	UTSW	11	105382237	missense	probably damaging	1.00
R6612:March10	UTSW	11	105397078	missense	probably damaging	0.99
R6894:March10	UTSW	11	105396961	missense	possibly damaging	0.94
R6921:March10	UTSW	11	105389777	missense	probably benign	0.00
R7134:March10	UTSW	11	105408676	missense	probably benign
R7199:March10	UTSW	11	105390706	missense	probably damaging	0.99
R7546:March10	UTSW	11	105390080	missense	not run
R7792:March10	UTSW	11	105390228	missense	probably benign
R8241:March10	UTSW	11	105389915	missense	probably benign	0.00
R8467:March10	UTSW	11	105390153	nonsense	probably null
R8843:March10	UTSW	11	105401976	missense	possibly damaging	0.83
R9214:March10	UTSW	11	105390274	missense	probably benign	0.02
R9323:March10	UTSW	11	105389755	missense	probably damaging	0.98
Z1088:March10	UTSW	11	105390359	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAAGGCCACACTGCTTTGTG -3'
(R):5'- AGGTCTGCTGTTCAAAATCACGAG -3'

Sequencing Primer
(F):5'- GGATTTGGTAGATCTGCCAGTAATG -3'
(R):5'- CTGCTGTTCAAAATCACGAGAGAGAC -3'

Posted On

2021-08-31