Mutagenetix > Incidental Mutation

Incidental Mutation 'R6038:Marchf10'

479314

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

044208-MU

Accession Numbers

Essential gene?

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

Stock #

R6038 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105251624-105347561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105292877 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 72 (S72P)

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: S177P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097906
Gene: ENSMUSG00000078627
AA Change: S177P

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

probably damaging
Transcript: ENSMUST00000151305
AA Change: S72P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118401
Gene: ENSMUSG00000078627
AA Change: S72P

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

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 93.7%
20x: 76.5%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,615,286 (GRCm39)	C1327R	probably damaging	Het
Adcy7	A	G	8: 89,049,608 (GRCm39)	T704A	probably benign	Het
Adgra3	A	T	5: 50,156,487 (GRCm39)	Y414*	probably null	Het
Adgrf1	T	C	17: 43,606,100 (GRCm39)	S75P	probably benign	Het
Antxr1	C	A	6: 87,263,982 (GRCm39)		probably null	Het
Arid1b	A	T	17: 5,386,957 (GRCm39)	Y1470F	probably benign	Het
Baiap3	T	C	17: 25,465,308 (GRCm39)	D649G	probably damaging	Het
Cabin1	A	G	10: 75,575,200 (GRCm39)	V615A	probably benign	Het
Cntnap1	G	A	11: 101,075,462 (GRCm39)	R880Q	probably benign	Het
Col28a1	T	C	6: 8,013,140 (GRCm39)	T971A	probably benign	Het
Coro7	A	T	16: 4,497,414 (GRCm39)		probably null	Het
Cspg4b	G	A	13: 113,455,153 (GRCm39)	V400M	possibly damaging	Het
Defb19	T	G	2: 152,418,187 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,946,715 (GRCm39)	D3045G	probably benign	Het
Dock4	A	T	12: 40,783,350 (GRCm39)		probably null	Het
Egln3	A	G	12: 54,228,476 (GRCm39)	V210A	probably damaging	Het
Epb41l4a	T	C	18: 33,987,388 (GRCm39)	S330G	probably benign	Het
Epha7	G	A	4: 28,821,521 (GRCm39)	E229K	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Garin4	C	T	1: 190,894,919 (GRCm39)	E575K	probably damaging	Het
Garin5a	C	T	7: 44,149,719 (GRCm39)	R147W	probably damaging	Het
Garin5b	T	C	7: 4,756,594 (GRCm39)		probably null	Het
Gxylt2	T	A	6: 100,781,555 (GRCm39)	L410Q	probably damaging	Het
H2-M10.3	C	A	17: 36,679,287 (GRCm39)	C6F	probably benign	Het
Hecw1	G	T	13: 14,520,647 (GRCm39)	Q197K	probably benign	Het
Hk3	T	C	13: 55,154,373 (GRCm39)	M778V	probably benign	Het
Hydin	A	G	8: 111,325,663 (GRCm39)	T4691A	probably benign	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Larp1	A	G	11: 57,932,431 (GRCm39)	E204G	possibly damaging	Het
Lrp12	A	C	15: 39,735,776 (GRCm39)	W738G	probably damaging	Het
Mdga2	A	T	12: 66,676,827 (GRCm39)	D488E	probably damaging	Het
Mrc1	G	C	2: 14,261,882 (GRCm39)	W290C	probably damaging	Het
Mtrex	A	T	13: 113,027,824 (GRCm39)	S679T	probably benign	Het
Nhp2	T	C	11: 51,510,912 (GRCm39)	V55A	probably benign	Het
Or10ag54	T	A	2: 87,099,611 (GRCm39)	I141N	possibly damaging	Het
Or11g25	T	C	14: 50,723,677 (GRCm39)	L254P	probably damaging	Het
Or7e165	A	G	9: 19,694,858 (GRCm39)	Y143C	probably benign	Het
Osbpl7	C	T	11: 96,941,542 (GRCm39)	P22S	probably benign	Het
Pebp1	A	T	5: 117,422,170 (GRCm39)	L124Q	probably benign	Het
Pfkp	G	T	13: 6,648,005 (GRCm39)	H524N	probably benign	Het
Pnmt	G	A	11: 98,278,594 (GRCm39)	D187N	probably damaging	Het
Ppl	A	T	16: 4,920,445 (GRCm39)	I355K	possibly damaging	Het
Prom1	A	T	5: 44,159,135 (GRCm39)	Y836N	probably damaging	Het
Rubcnl	T	C	14: 75,269,410 (GRCm39)	S23P	probably benign	Het
Sap130	T	A	18: 31,813,539 (GRCm39)	I532N	probably damaging	Het
Serpina1e	A	T	12: 103,913,095 (GRCm39)		probably null	Het
Slc12a3	T	G	8: 95,057,100 (GRCm39)	S124R	probably benign	Het
Slc24a5	A	G	2: 124,927,651 (GRCm39)	T317A	probably benign	Het
Smarcad1	T	C	6: 65,050,232 (GRCm39)	S284P	possibly damaging	Het
Spag9	C	G	11: 94,002,918 (GRCm39)	R724G	probably damaging	Het
Speg	T	C	1: 75,395,103 (GRCm39)		probably null	Het
Steap3	A	G	1: 120,169,371 (GRCm39)	Y271H	probably damaging	Het
Syne2	C	T	12: 75,925,158 (GRCm39)	Q44*	probably null	Het
Syt16	G	A	12: 74,269,309 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,444 (GRCm39)	C195S	possibly damaging	Het
Tcl1b4	T	C	12: 105,168,766 (GRCm39)	M10T	possibly damaging	Het
Tln1	G	C	4: 43,555,052 (GRCm39)	F259L	probably damaging	Het
Vmn2r60	C	A	7: 41,844,386 (GRCm39)	A583D	probably benign	Het
Wdhd1	T	C	14: 47,501,037 (GRCm39)	Q455R	possibly damaging	Het
Wdr17	A	G	8: 55,085,346 (GRCm39)		probably null	Het
Xbp1	T	C	11: 5,474,798 (GRCm39)	L233P	probably benign	Het
Zbtb17	A	G	4: 141,191,752 (GRCm39)	E288G	probably benign	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
R0195:Marchf10	UTSW	11	105,276,351 (GRCm39)	missense	probably damaging	1.00
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
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

Posted On

2017-06-26