Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:March10'

435980

Institutional Source

Beutler Lab

Gene Symbol

March10

Ensembl Gene

ENSMUSG00000078627

Gene Name

membrane-associated ring finger (C3HC4) 10

Synonyms

4933417C16Rik, OTTMUSG00000002847, Rnf190

MMRRC Submission

043099-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105360798-105456735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105390131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 443 (D443N)

Ref Sequence

ENSEMBL: ENSMUSP00000121919 (fasta)

Gene Model

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

AlphaFold

E9PX79

Predicted Effect

probably damaging
Transcript: ENSMUST00000049995
AA Change: D443N

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

SMART Domains

Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: D443N

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 damaging
Transcript: ENSMUST00000138977
AA Change: D443N

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

SMART Domains

Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: D443N

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

noncoding transcript
Transcript: ENSMUST00000153672

Meta Mutation Damage Score

0.5176

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139		probably null	Het
Asb7	T	C	7: 66,679,269	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629		probably benign	Het
Dhx29	A	G	13: 112,940,374	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587		probably null	Het
Kdm1b	T	C	13: 47,079,196	M714T	probably damaging	Het
Kif21a	A	G	15: 90,968,113	M924T	probably damaging	Het
Klb	A	T	5: 65,379,234	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736	H219Y	probably benign	Het
Nos1	A	G	5: 117,905,394	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732		probably benign	Het
Ryr1	G	T	7: 29,086,185	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163		probably benign	Het
St8sia2	T	C	7: 73,966,900	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662		probably null	Het
Zfand4	T	A	6: 116,314,295	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950	A799V	probably damaging	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
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
R8962:March10	UTSW	11	105389989	nonsense	probably null
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'- TGGCCGGCGTACATTAAAC -3'
(R):5'- GCTCCAAGATACCAGGTTACCC -3'

Sequencing Primer
(F):5'- GCCGGCGTACATTAAACCTTAGG -3'
(R):5'- ATACCAGGTTACCCAGTGAGTTG -3'

Posted On

2016-10-24