Mutagenetix > Incidental Mutation

Incidental Mutation 'R5888:March10'

457820

Institutional Source

Beutler Lab

Gene Symbol

March10

Ensembl Gene

ENSMUSG00000078627

Gene Name

membrane-associated ring finger (C3HC4) 10

Synonyms

4933417C16Rik, OTTMUSG00000002847, Rnf190

MMRRC Submission

044089-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5888 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105360798-105456735 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105402146 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 145 (V145D)

Ref Sequence

ENSEMBL: ENSMUSP00000097906 (fasta)

Gene Model

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

AlphaFold

E9PX79

Predicted Effect

probably benign
Transcript: ENSMUST00000049995

SMART Domains

Protein: ENSMUSP00000063198
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	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

possibly damaging
Transcript: ENSMUST00000100332
AA Change: V145D

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097906
Gene: ENSMUSG00000078627
AA Change: V145D

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 benign
Transcript: ENSMUST00000138977

SMART Domains

Protein: ENSMUSP00000121919
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	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: V40D

SMART Domains

Protein: ENSMUSP00000118401
Gene: ENSMUSG00000078627
AA Change: V40D

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

0.0837

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

94% (96/102)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029P11Rik	T	C	15: 81,980,671	S38P	probably benign	Het
Adcy1	T	A	11: 7,139,095	V503E	possibly damaging	Het
Alk	C	A	17: 71,874,943	V1362L	probably damaging	Het
Ankrd55	T	A	13: 112,355,919	I208N	possibly damaging	Het
Asap2	T	A	12: 21,218,190	I319N	probably damaging	Het
Atp11b	T	C	3: 35,837,547	I1036T	probably benign	Het
B4gat1	T	C	19: 5,039,532	F186L	probably benign	Het
C3	T	A	17: 57,214,831	T1079S	probably damaging	Het
Cacul1	G	T	19: 60,537,464	T287K	possibly damaging	Het
Cbr3	G	C	16: 93,690,726	G266R	probably damaging	Het
Cd63	T	A	10: 128,912,291		probably null	Het
Chd7	G	A	4: 8,866,382	M851I	probably damaging	Het
Chst13	T	A	6: 90,309,572	H136L	probably benign	Het
Cyp2d22	T	C	15: 82,373,813	T179A	probably benign	Het
Dclre1b	A	T	3: 103,803,737	V286E	probably damaging	Het
Defb45	G	A	2: 152,593,234		probably benign	Het
Dlg1	T	C	16: 31,791,886		probably null	Het
Dock3	A	G	9: 107,023,803	V321A	probably benign	Het
Dytn	A	T	1: 63,677,237	V59E	possibly damaging	Het
Eif2ak1	A	G	5: 143,886,915	I393M	probably damaging	Het
Fam83g	A	T	11: 61,702,594	E318V	probably benign	Het
Fbxo34	T	A	14: 47,529,719	F179I	probably damaging	Het
Fmo5	T	A	3: 97,641,725	Y230N	probably benign	Het
Fzd9	T	G	5: 135,249,463		probably null	Het
Gata2	T	C	6: 88,200,740	S251P	probably benign	Het
Gigyf1	A	G	5: 137,525,697	D1043G	probably damaging	Het
Gm10260	G	A	13: 97,760,393	R66*	probably null	Het
Gm10322	T	A	10: 59,616,303	S81T	probably benign	Het
Gm11639	T	C	11: 104,721,401		probably benign	Het
Gm15517	A	T	7: 44,260,642		probably benign	Het
Haus4	T	C	14: 54,544,219	T232A	probably benign	Het
Hgfac	A	T	5: 35,045,407	H417L	probably damaging	Het
Iqgap2	T	C	13: 95,635,610	K1354E	possibly damaging	Het
Kcnk12	C	A	17: 87,746,649	R195L	probably benign	Het
Kcnn2	A	T	18: 45,592,345	I303F	probably damaging	Het
Kcnt1	T	C	2: 25,908,110	F879S	probably damaging	Het
Kndc1	T	C	7: 139,895,217	F11L	probably benign	Het
Kpna7	A	G	5: 144,989,795	F449S	probably damaging	Het
Krt77	G	T	15: 101,865,453	N255K	probably benign	Het
Lair1	A	T	7: 4,010,845	D134E	probably damaging	Het
Loxhd1	T	C	18: 77,402,515	V1318A	probably damaging	Het
Mcpt1	T	A	14: 56,019,512	M169K	probably benign	Het
Mdc1	T	A	17: 35,847,820	V364E	probably benign	Het
Mfsd11	T	C	11: 116,871,384	F270S	probably damaging	Het
Mfsd4b2	T	G	10: 39,922,035	D108A	probably benign	Het
Mink1	A	T	11: 70,610,059		probably benign	Het
Mmp25	T	C	17: 23,631,074	Y504C	probably damaging	Het
Ms4a13	C	T	19: 11,191,506	V52I	probably benign	Het
Msh4	C	T	3: 153,867,723		probably null	Het
Muc5b	T	G	7: 141,858,421	S1701R	unknown	Het
Naalad2	A	T	9: 18,330,641	S656T	probably benign	Het
Ncapd2	T	C	6: 125,187,089	Y64C	probably damaging	Het
Ncapg2	T	A	12: 116,425,800	S347T	possibly damaging	Het
Nipal4	T	C	11: 46,151,339	T172A	probably damaging	Het
Nrros	T	C	16: 32,143,087	K652R	probably benign	Het
Nrxn3	G	T	12: 89,512,085	A983S	possibly damaging	Het
Olfr1084	A	C	2: 86,639,144	L188R	probably damaging	Het
Olfr1187-ps1	T	C	2: 88,540,244		noncoding transcript	Het
Olfr1220	T	A	2: 89,097,925	M1L	probably damaging	Het
Olfr1249	T	A	2: 89,630,799	Y33F	probably damaging	Het
Olfr1283	T	C	2: 111,368,743	M37T	probably benign	Het
Olfr631	A	G	7: 103,929,032	T70A	possibly damaging	Het
Olfr938	A	T	9: 39,077,967	Y259*	probably null	Het
P2rx4	T	A	5: 122,719,165	S155T	probably benign	Het
P2rx4	T	G	5: 122,727,208	Y299D	probably damaging	Het
Pcsk6	A	T	7: 66,043,624	L7F	probably null	Het
Pdss2	T	C	10: 43,221,797		silent	Het
Pfkl	A	G	10: 77,991,370	V494A	possibly damaging	Het
Prep	G	T	10: 45,067,364	D12Y	possibly damaging	Het
Prg4	A	G	1: 150,452,350	F188S	probably damaging	Het
Ripor3	T	C	2: 167,997,287	Y98C	probably damaging	Het
Rnf216	T	A	5: 143,068,314		probably null	Het
Rnf24	A	G	2: 131,322,245		probably benign	Het
Scn3a	A	G	2: 65,497,398	M916T	probably benign	Het
Scnm1	T	C	3: 95,130,285	I157V	probably benign	Het
Sh2b3	C	G	5: 121,829,021	R10P	possibly damaging	Het
Slc25a27	T	C	17: 43,649,694	D211G	probably damaging	Het
Slc36a4	A	T	9: 15,727,028	Y250F	probably damaging	Het
Slc4a1	T	A	11: 102,356,525	E448V	probably damaging	Het
Slit1	C	A	19: 41,743,296	C38F	probably damaging	Het
Spock3	T	A	8: 63,355,300	N410K	unknown	Het
Supt20	G	T	3: 54,712,207	W370L	probably benign	Het
Tas2r139	T	A	6: 42,141,496	N187K	probably damaging	Het
Tbc1d9b	G	A	11: 50,140,484	V111I	probably benign	Het
Thsd7b	T	A	1: 130,210,320	Y1578*	probably null	Het
Tln2	T	A	9: 67,229,403	I1267F	probably damaging	Het
Tnk2	G	A	16: 32,671,367	V363I	probably damaging	Het
Ttc32	A	G	12: 9,035,870	K139R	possibly damaging	Het
Vmn1r30	G	C	6: 58,435,565	T94S	possibly damaging	Het
Vmn1r90	G	A	7: 14,561,855	T106I	probably damaging	Het
Zfp677	T	A	17: 21,398,258	C526S	probably damaging	Het
Zfp831	T	G	2: 174,643,627	S32A	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
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'- AAATTTTACTGGGCCTTCTGGG -3'
(R):5'- TCAGACCTGAGCAAGATGCC -3'

Sequencing Primer
(F):5'- TAGACACAGCACAGGGGTCTC -3'
(R):5'- GTGAATGCTGCTTCCTGA -3'

Posted On

2017-02-15