Mutagenetix > Incidental Mutations

Incidental Mutation 'R3788:March10'

272396

Institutional Source

Beutler Lab

Gene Symbol

March10

Ensembl Gene

ENSMUSG00000078627

Gene Name

membrane-associated ring finger (C3HC4) 10

Synonyms

4933417C16Rik, OTTMUSG00000002847, Rnf190

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R3788 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105360798-105456735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105397079 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 132 (L132F)

Ref Sequence

ENSEMBL: ENSMUSP00000121919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049995] [ENSMUST00000100332] [ENSMUST00000138977]

Predicted Effect

probably damaging
Transcript: ENSMUST00000049995
AA Change: L132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: L132F

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 benign
Transcript: ENSMUST00000100332

SMART Domains

Protein: ENSMUSP00000097906
Gene: ENSMUSG00000078627

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	126	N/A	INTRINSIC
low complexity region	161	168	N/A	INTRINSIC
low complexity region	181	206	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000138977
AA Change: L132F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: L132F

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

unknown
Transcript: ENSMUST00000151305
AA Change: I138F

SMART Domains

Protein: ENSMUSP00000118401
Gene: ENSMUSG00000078627
AA Change: I138F

Domain	Start	End	E-Value	Type
low complexity region	10	22	N/A	INTRINSIC
low complexity region	57	64	N/A	INTRINSIC
low complexity region	77	102	N/A	INTRINSIC

Meta Mutation Damage Score

0.0775

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,288,297		probably null	Het
Abca4	T	A	3: 122,052,912	V26E	possibly damaging	Het
Abhd16a	A	G	17: 35,101,587	N411S	probably damaging	Het
Akap13	G	A	7: 75,702,153		probably null	Het
Aph1b	T	C	9: 66,794,066		probably benign	Het
Aspm	C	T	1: 139,463,203	T742I	probably damaging	Het
Bclaf3	A	G	X: 159,566,496	H619R	probably benign	Het
Cemip	A	T	7: 83,943,898	L1199H	probably damaging	Het
Chd2	G	A	7: 73,447,130		probably benign	Het
Clnk	A	G	5: 38,714,998	Y310H	probably damaging	Het
Crmp1	A	G	5: 37,284,140	D522G	probably damaging	Het
Cyth3	A	G	5: 143,636,543		probably benign	Het
Dcbld1	T	A	10: 52,319,658	Y392N	probably damaging	Het
Fam60a	A	G	6: 148,926,119	S134P	possibly damaging	Het
Flnc	T	C	6: 29,454,057	F1820L	probably damaging	Het
Galnt18	G	A	7: 111,520,115	R385*	probably null	Het
Gpatch3	C	A	4: 133,575,168	R137S	possibly damaging	Het
Gpc6	C	T	14: 117,624,466	P265S	probably damaging	Het
Harbi1	T	A	2: 91,720,607	D308E	probably benign	Het
Hdhd2	G	A	18: 76,955,187		probably null	Het
Hk1	T	C	10: 62,275,688	K737E	possibly damaging	Het
Hnrnpr	G	A	4: 136,336,313	V345M	probably damaging	Het
Kalrn	T	C	16: 34,220,240	H944R	probably damaging	Het
Kdm2a	A	T	19: 4,351,805	C207S	probably damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Krt75	C	T	15: 101,573,521	G104D	possibly damaging	Het
Lnpk	A	T	2: 74,522,263	S358R	probably benign	Het
Map2	A	G	1: 66,416,863	T1512A	probably damaging	Het
Mfrp	G	A	9: 44,105,457	W65*	probably null	Het
Mgat5	A	G	1: 127,366,443	D174G	probably benign	Het
Miga2	T	A	2: 30,371,225	Y177*	probably null	Het
Mroh3	T	C	1: 136,185,475	D747G	probably damaging	Het
Muc5b	A	G	7: 141,863,834	T3506A	possibly damaging	Het
Myo7b	G	T	18: 31,974,112	P1277T	possibly damaging	Het
Naaa	C	T	5: 92,272,554		probably null	Het
Ndufs2	T	C	1: 171,235,320	D410G	possibly damaging	Het
Olfr506	T	A	7: 108,613,073	Y255*	probably null	Het
Olfr559	A	G	7: 102,723,487		probably null	Het
Olfr873	A	G	9: 20,300,370	I58V	probably benign	Het
Olfr955	A	G	9: 39,470,069	I219T	probably benign	Het
Osbp	A	T	19: 11,978,921	Y409F	probably benign	Het
Plxnb1	T	A	9: 109,109,287	V1303D	possibly damaging	Het
Prkcg	G	A	7: 3,313,747	D246N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sbf1	G	A	15: 89,299,528	R1261*	probably null	Het
Scn4a	T	C	11: 106,344,274	N341S	probably damaging	Het
Sec61a2	C	A	2: 5,879,625		probably null	Het
Sgcd	T	A	11: 47,355,205	K57*	probably null	Het
Slc12a5	T	C	2: 164,993,775	L861P	probably damaging	Het
Slc6a16	A	G	7: 45,259,962	D184G	probably benign	Het
Snx7	A	G	3: 117,838,990		probably benign	Het
Sptbn2	A	G	19: 4,745,922	I1710V	probably damaging	Het
Sytl2	A	T	7: 90,376,081	I426F	probably benign	Het
Tdp1	A	G	12: 99,891,752		probably benign	Het
Tmem232	C	A	17: 65,382,633	D496Y	possibly damaging	Het
Tomm20l	C	T	12: 71,111,742	A58V	possibly damaging	Het
Ttc26	T	A	6: 38,403,524		probably null	Het
Ttn	T	C	2: 76,945,274	E1854G	unknown	Het
Ttn	A	G	2: 76,974,208	V240A	probably benign	Het
Vmn2r98	A	T	17: 19,080,625	T630S	probably benign	Het
Xrcc1	G	C	7: 24,566,908	A220P	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
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
R8962:March10	UTSW	11	105389989	nonsense	probably null
Z1088:March10	UTSW	11	105390359	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGGTACCAGCACACGTCAG -3'
(R):5'- GGCCAAGCTAGATTTCAAGCC -3'

Sequencing Primer
(F):5'- ACACGTCAGTCCTCCCTGAG -3'
(R):5'- CGTCTACTTTCTTTGATGAC -3'

Posted On

2015-03-25