Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Marchf10'

23383

Institutional Source

Beutler Lab

Gene Symbol

Marchf10

Ensembl Gene

ENSMUSG00000078627

Gene Name

membrane associated ring-CH-type finger 10

Synonyms

Rnf190, 4933417C16Rik, OTTMUSG00000002847, March10

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

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

Stock #

R0195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105251624-105347561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105276351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 646 (G646R)

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: G646R

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

SMART Domains

Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: G646R

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: G646R

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

SMART Domains

Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: G646R

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

0.3177

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,403,800 (GRCm39)	R362P	possibly damaging	Het
Adam24	T	A	8: 41,134,805 (GRCm39)	W758R	probably benign	Het
Adam26b	G	T	8: 43,973,307 (GRCm39)	T565K	probably damaging	Het
Adam7	T	G	14: 68,765,076 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,102,942 (GRCm39)		probably benign	Het
Add1	A	G	5: 34,767,990 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,357,484 (GRCm39)	C64R	probably benign	Het
Ankrd12	C	T	17: 66,356,943 (GRCm39)		probably null	Het
Arhgef33	A	G	17: 80,688,863 (GRCm39)	K820E	probably damaging	Het
Arl9	T	C	5: 77,154,341 (GRCm39)	V8A	probably damaging	Het
Aspm	T	C	1: 139,406,873 (GRCm39)	L1920P	probably damaging	Het
Atad2	A	G	15: 57,963,350 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,770,835 (GRCm39)	V358E	probably benign	Het
C3ar1	A	C	6: 122,828,114 (GRCm39)	C34W	possibly damaging	Het
C6	G	A	15: 4,792,953 (GRCm39)	V353M	probably benign	Het
Capn7	T	C	14: 31,087,538 (GRCm39)	I593T	probably damaging	Het
Casc3	T	A	11: 98,712,319 (GRCm39)	D119E	probably damaging	Het
Ccna1	T	A	3: 54,961,785 (GRCm39)	E45V	probably damaging	Het
Cdc37	A	G	9: 21,053,576 (GRCm39)	V180A	probably benign	Het
Cdh23	A	G	10: 60,152,838 (GRCm39)	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cngb3	A	T	4: 19,280,975 (GRCm39)	M15L	probably benign	Het
Crygn	A	G	5: 24,961,036 (GRCm39)	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,782,008 (GRCm39)	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,411,095 (GRCm39)		noncoding transcript	Het
Ddx24	C	T	12: 103,385,220 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,676,998 (GRCm39)		probably null	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,069,810 (GRCm39)	T342S	probably benign	Het
Evx2	G	T	2: 74,489,388 (GRCm39)	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,928,140 (GRCm39)	L40Q	probably damaging	Het
Git1	T	A	11: 77,391,899 (GRCm39)	D240E	probably benign	Het
Glp2r	T	A	11: 67,600,534 (GRCm39)	K438N	probably damaging	Het
Hivep1	T	A	13: 42,309,629 (GRCm39)	I623N	probably benign	Het
Il17re	A	G	6: 113,443,098 (GRCm39)	E312G	probably damaging	Het
Itgb7	G	A	15: 102,130,618 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,088 (GRCm39)	Y1900C	probably damaging	Het
Krt1c	G	A	15: 101,721,626 (GRCm39)	Q472*	probably null	Het
Krtap5-1	A	C	7: 141,850,434 (GRCm39)	C125G	unknown	Het
Macf1	A	G	4: 123,328,709 (GRCm39)	S2554P	probably damaging	Het
Mrpl48	A	C	7: 100,195,560 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,365,538 (GRCm39)		probably benign	Het
Nrcam	A	T	12: 44,631,628 (GRCm39)	E1060D	probably benign	Het
Nsd3	T	A	8: 26,170,709 (GRCm39)	C731S	probably damaging	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Nxnl2	G	T	13: 51,325,483 (GRCm39)	R42L	probably damaging	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Orc1	C	T	4: 108,471,505 (GRCm39)	R786*	probably null	Het
P2ry6	A	T	7: 100,587,904 (GRCm39)	W152R	probably damaging	Het
Pex5l	T	C	3: 33,047,102 (GRCm39)	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,518,622 (GRCm39)	I269V	probably benign	Het
Phgdh	T	G	3: 98,223,866 (GRCm39)		probably benign	Het
Pzp	A	T	6: 128,464,441 (GRCm39)	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,390,026 (GRCm39)		probably benign	Het
Rffl	A	G	11: 82,700,989 (GRCm39)	L244P	probably damaging	Het
Serpina11	T	C	12: 103,952,131 (GRCm39)	Y213C	probably damaging	Het
Spopfm1	A	G	3: 94,173,229 (GRCm39)	Y79C	possibly damaging	Het
Srsf11	A	G	3: 157,742,172 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,463,570 (GRCm39)	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514 (GRCm39)	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,200,480 (GRCm39)	D74V	probably damaging	Het
Tmprss15	T	A	16: 78,831,222 (GRCm39)	T393S	probably benign	Het
Tnfaip3	A	G	10: 18,881,461 (GRCm39)	L275P	probably damaging	Het
Trim30c	A	G	7: 104,031,636 (GRCm39)	V393A	probably benign	Het
Tssk2	T	A	16: 17,717,439 (GRCm39)	S281T	probably benign	Het
Tubb4a	A	G	17: 57,388,499 (GRCm39)	S176P	probably damaging	Het
Unc45b	T	A	11: 82,828,654 (GRCm39)	M785K	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,535,010 (GRCm39)	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,794,317 (GRCm39)	L784Q	probably benign	Het
Vps13b	A	G	15: 35,472,045 (GRCm39)	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,846 (GRCm39)	M373T	probably damaging	Het
Zmym1	A	G	4: 126,941,704 (GRCm39)	F895L	possibly damaging	Het

Other mutations in Marchf10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Marchf10	APN	11	105,293,014 (GRCm39)	missense	possibly damaging	0.82
IGL01461:Marchf10	APN	11	105,280,431 (GRCm39)	missense	probably damaging	1.00
IGL01473:Marchf10	APN	11	105,280,431 (GRCm39)	missense	probably damaging	1.00
Forward	UTSW	11	105,273,063 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Marchf10	UTSW	11	105,281,346 (GRCm39)	missense	probably benign	0.17
R0520:Marchf10	UTSW	11	105,280,708 (GRCm39)	missense	probably benign
R0628:Marchf10	UTSW	11	105,280,986 (GRCm39)	missense	probably benign	0.00
R1087:Marchf10	UTSW	11	105,281,488 (GRCm39)	missense	probably damaging	1.00
R1440:Marchf10	UTSW	11	105,281,409 (GRCm39)	missense	probably damaging	1.00
R1802:Marchf10	UTSW	11	105,280,741 (GRCm39)	missense	probably benign	0.00
R1855:Marchf10	UTSW	11	105,281,218 (GRCm39)	missense	probably benign
R1860:Marchf10	UTSW	11	105,287,904 (GRCm39)	missense	probably damaging	0.99
R2504:Marchf10	UTSW	11	105,276,398 (GRCm39)	missense	probably damaging	1.00
R3788:Marchf10	UTSW	11	105,287,905 (GRCm39)	missense	probably damaging	1.00
R4629:Marchf10	UTSW	11	105,280,664 (GRCm39)	missense	probably benign	0.28
R4755:Marchf10	UTSW	11	105,255,302 (GRCm39)	intron	probably benign
R4776:Marchf10	UTSW	11	105,280,863 (GRCm39)	missense	probably benign	0.42
R5067:Marchf10	UTSW	11	105,280,933 (GRCm39)	missense	possibly damaging	0.51
R5192:Marchf10	UTSW	11	105,262,752 (GRCm39)	missense	possibly damaging	0.68
R5436:Marchf10	UTSW	11	105,292,991 (GRCm39)	missense	possibly damaging	0.92
R5541:Marchf10	UTSW	11	105,280,957 (GRCm39)	missense	probably damaging	1.00
R5888:Marchf10	UTSW	11	105,292,972 (GRCm39)	missense	possibly damaging	0.92
R5908:Marchf10	UTSW	11	105,281,065 (GRCm39)	missense	probably benign	0.00
R5914:Marchf10	UTSW	11	105,276,308 (GRCm39)	missense	probably damaging	1.00
R6038:Marchf10	UTSW	11	105,292,877 (GRCm39)	missense	probably damaging	0.96
R6178:Marchf10	UTSW	11	105,280,440 (GRCm39)	missense	probably damaging	1.00
R6300:Marchf10	UTSW	11	105,273,063 (GRCm39)	missense	probably damaging	1.00
R6612:Marchf10	UTSW	11	105,287,904 (GRCm39)	missense	probably damaging	0.99
R6894:Marchf10	UTSW	11	105,287,787 (GRCm39)	missense	possibly damaging	0.94
R6921:Marchf10	UTSW	11	105,280,603 (GRCm39)	missense	probably benign	0.00
R7134:Marchf10	UTSW	11	105,299,502 (GRCm39)	missense	probably benign
R7199:Marchf10	UTSW	11	105,281,532 (GRCm39)	missense	probably damaging	0.99
R7546:Marchf10	UTSW	11	105,280,906 (GRCm39)	missense	not run
R7792:Marchf10	UTSW	11	105,281,054 (GRCm39)	missense	probably benign
R8241:Marchf10	UTSW	11	105,280,741 (GRCm39)	missense	probably benign	0.00
R8467:Marchf10	UTSW	11	105,280,979 (GRCm39)	nonsense	probably null
R8843:Marchf10	UTSW	11	105,292,802 (GRCm39)	missense	possibly damaging	0.83
R8962:Marchf10	UTSW	11	105,280,815 (GRCm39)	nonsense	probably null
R9214:Marchf10	UTSW	11	105,281,100 (GRCm39)	missense	probably benign	0.02
R9323:Marchf10	UTSW	11	105,280,581 (GRCm39)	missense	probably damaging	0.98
Z1088:Marchf10	UTSW	11	105,281,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCATTGCTCTGACATTGAGCCTCTG -3'
(R):5'- TCACACTTAGCCAAGGCTGCAC -3'

Sequencing Primer
(F):5'- CTCTGACATTGAGCCTCTGATGAG -3'
(R):5'- TCTGGAGAAATCCTTACAGAGTCG -3'

Posted On

2013-04-16