Mutagenetix > Incidental Mutation

Incidental Mutation 'R7134:Marchf10'

552932

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

045219-MU

Accession Numbers

Essential gene?

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

Stock #

R7134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105251624-105347561 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105299502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 116 (S116P)

Ref Sequence

ENSEMBL: ENSMUSP00000097906 (fasta)

Gene Model

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

AlphaFold

E9PX79

Predicted Effect

probably benign
Transcript: ENSMUST00000049995
AA Change: S116P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000063198
Gene: ENSMUSG00000078627
AA Change: S116P

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
AA Change: S116P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097906
Gene: ENSMUSG00000078627
AA Change: S116P

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
AA Change: S116P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121919
Gene: ENSMUSG00000078627
AA Change: S116P

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

SMART Domains

Protein: ENSMUSP00000118401
Gene: ENSMUSG00000078627
AA Change: S11P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (84/85)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 36,270,144 (GRCm39)	F638S	possibly damaging	Het
Actl6b	T	A	5: 137,562,762 (GRCm39)	N159K	probably damaging	Het
Adam6a	T	G	12: 113,508,655 (GRCm39)	S343A	probably benign	Het
Ankrd17	G	A	5: 90,380,173 (GRCm39)	T2505I	probably damaging	Het
Ankrd17	T	C	5: 90,433,382 (GRCm39)	T728A	probably benign	Het
Asap2	G	T	12: 21,315,964 (GRCm39)	E919*	probably null	Het
Atp10b	A	T	11: 43,136,291 (GRCm39)	I1140F	probably damaging	Het
Cep126	A	T	9: 8,103,383 (GRCm39)	V209E	probably damaging	Het
Cfap65	C	T	1: 74,965,792 (GRCm39)	R406Q	probably benign	Het
Cldn1	T	C	16: 26,190,376 (GRCm39)	M1V	probably null	Het
Cryl1	C	T	14: 57,512,956 (GRCm39)	D304N	probably benign	Het
D3Ertd751e	T	C	3: 41,708,212 (GRCm39)		probably null	Het
D630044L22Rik	A	T	17: 26,181,090 (GRCm39)	M156L	probably benign	Het
Ddx21	T	C	10: 62,427,634 (GRCm39)	D423G	possibly damaging	Het
Dock2	T	A	11: 34,260,363 (GRCm39)	M993L	probably benign	Het
Dusp29	A	T	14: 21,727,129 (GRCm39)	I173N	probably damaging	Het
Eif4g1	C	T	16: 20,500,252 (GRCm39)	A675V	probably damaging	Het
Eml1	C	T	12: 108,472,810 (GRCm39)	S206L	probably benign	Het
Farp2	A	C	1: 93,531,181 (GRCm39)	I560L	probably benign	Het
Fbn1	A	T	2: 125,223,969 (GRCm39)	D593E	probably benign	Het
Fetub	A	G	16: 22,748,007 (GRCm39)	D61G	possibly damaging	Het
Fpgs	T	C	2: 32,576,641 (GRCm39)	K329E	probably benign	Het
Fpgt	T	C	3: 154,797,120 (GRCm39)	Y45C	probably damaging	Het
Gas2l1	A	T	11: 5,011,106 (GRCm39)	C574*	probably null	Het
Gm9747	G	T	1: 82,211,837 (GRCm39)	C12F	unknown	Het
H2-T23	T	C	17: 36,342,709 (GRCm39)	Y143C	probably damaging	Het
Hhip	A	T	8: 80,719,142 (GRCm39)	S462T	probably benign	Het
Hnf1a	C	T	5: 115,091,446 (GRCm39)	G416R	probably damaging	Het
Hoxa5	C	T	6: 52,181,023 (GRCm39)	C103Y	probably damaging	Het
Kansl3	G	T	1: 36,390,848 (GRCm39)	D395E	possibly damaging	Het
Med12l	C	T	3: 59,001,180 (GRCm39)	Q748*	probably null	Het
Mroh7	T	A	4: 106,577,791 (GRCm39)	N296Y	probably damaging	Het
Mtbp	T	G	15: 55,421,961 (GRCm39)	D61E	probably benign	Het
Muc5b	A	T	7: 141,411,391 (GRCm39)	I1446L	unknown	Het
Myh15	T	C	16: 48,901,705 (GRCm39)	V266A	possibly damaging	Het
Nap1l1	G	A	10: 111,330,655 (GRCm39)		probably null	Het
Napsa	A	G	7: 44,235,159 (GRCm39)	T315A	probably benign	Het
Nlrc5	A	T	8: 95,206,350 (GRCm39)	I734F	probably damaging	Het
Nnt	A	G	13: 119,531,198 (GRCm39)	V183A	probably damaging	Het
Nploc4	A	T	11: 120,276,614 (GRCm39)	D477E	probably benign	Het
Nrip3	A	G	7: 109,364,695 (GRCm39)	S144P	probably damaging	Het
Ntng1	A	T	3: 109,842,445 (GRCm39)	F109L	probably benign	Het
Or5p61	A	G	7: 107,758,883 (GRCm39)	Y66H	probably damaging	Het
Or5v1	T	A	17: 37,809,776 (GRCm39)	V78D	probably damaging	Het
Or6aa1	G	A	7: 86,044,752 (GRCm39)		probably benign	Het
Or8b36	A	G	9: 37,937,795 (GRCm39)	E231G	probably benign	Het
Pacsin1	G	A	17: 27,921,707 (GRCm39)	D30N	probably damaging	Het
Pbld2	A	T	10: 62,860,368 (GRCm39)		probably benign	Het
Pcnx4	C	T	12: 72,613,750 (GRCm39)	T565I	probably damaging	Het
Pdzk1	A	T	3: 96,763,246 (GRCm39)	T225S	probably benign	Het
Phyhip	T	G	14: 70,704,639 (GRCm39)	I286S	probably benign	Het
Pkd1	T	A	17: 24,813,086 (GRCm39)	Y3903N	probably damaging	Het
Plcb3	A	T	19: 6,942,698 (GRCm39)	L222Q	probably damaging	Het
Plcd4	T	A	1: 74,593,662 (GRCm39)	H262Q	probably benign	Het
Plekhh1	C	T	12: 79,109,390 (GRCm39)	A474V	probably benign	Het
Plppr3	T	C	10: 79,701,537 (GRCm39)	E435G	probably damaging	Het
Poln	T	A	5: 34,276,340 (GRCm39)	N305I	possibly damaging	Het
Pou3f2	T	C	4: 22,486,874 (GRCm39)	T420A	probably benign	Het
Ppdpf	T	C	2: 180,829,523 (GRCm39)	Y17H	probably damaging	Het
Prrx2	C	A	2: 30,768,485 (GRCm39)	T104K	probably damaging	Het
Ptprj	A	T	2: 90,294,822 (GRCm39)	L462H	probably benign	Het
Radil	T	C	5: 142,471,304 (GRCm39)	T991A	probably damaging	Het
Rbsn	T	C	6: 92,178,608 (GRCm39)	E147G	probably damaging	Het
Ror2	C	T	13: 53,300,742 (GRCm39)	V35M	probably benign	Het
Rps6ka1	T	C	4: 133,599,373 (GRCm39)	Q18R	probably benign	Het
Setbp1	T	A	18: 78,902,734 (GRCm39)	D311V	possibly damaging	Het
Setd2	C	T	9: 110,377,865 (GRCm39)	S560L	possibly damaging	Het
Slc12a5	A	T	2: 164,816,878 (GRCm39)	I134F	probably damaging	Het
Speer1h	C	T	5: 11,647,706 (GRCm39)	T148I	possibly damaging	Het
Svil	A	G	18: 5,116,080 (GRCm39)	D2035G	probably damaging	Het
Syngap1	T	C	17: 27,178,985 (GRCm39)	Y665H	probably damaging	Het
Tbc1d9b	T	C	11: 50,043,519 (GRCm39)	Y547H	possibly damaging	Het
Tgm2	A	G	2: 157,980,812 (GRCm39)	V83A	probably benign	Het
Tmem233	T	C	5: 116,189,429 (GRCm39)	I117V	probably benign	Het
Tsen34	A	G	7: 3,703,640 (GRCm39)	T293A	probably damaging	Het
Ttn	A	G	2: 76,709,023 (GRCm39)	V8752A	unknown	Het
Ubac1	A	G	2: 25,904,974 (GRCm39)	V88A	probably benign	Het
Uchl4	T	C	9: 64,142,621 (GRCm39)	V34A	probably damaging	Het
Ugt2a2	C	T	5: 87,608,435 (GRCm39)	R468H	probably benign	Het
Vmn2r102	A	T	17: 19,897,749 (GRCm39)	T255S	probably benign	Het
Wdr6	T	A	9: 108,450,564 (GRCm39)	N988I	probably damaging	Het
Wnk1	A	T	6: 119,903,389 (GRCm39)	I2359N	unknown	Het
Ybey	A	G	10: 76,304,025 (GRCm39)	V59A	probably benign	Het
Zfp268	T	A	4: 145,349,375 (GRCm39)	C271S	possibly damaging	Het
Zfp397	A	G	18: 24,090,122 (GRCm39)	N142S	probably benign	Het
Zfy1	A	T	Y: 725,788 (GRCm39)	V659E	probably 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
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
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
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'- GCCTGAAGATATGGGAGCATATTC -3'
(R):5'- ACTGAAGGGCCCAGCAATAC -3'

Sequencing Primer
(F):5'- AGATATGGGAGCATATTCTACTGAG -3'
(R):5'- AATACCCACATGTCCTGCTTCTGG -3'

Posted On

2019-05-15