Mutagenetix > Incidental Mutation

Incidental Mutation 'R2184:Marchf1'

237356

Institutional Source

Beutler Lab

Gene Symbol

Marchf1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane associated ring-CH-type finger 1

Synonyms

March1, 2900024D24Rik

MMRRC Submission

040186-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R2184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66070552-66924289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66840075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 286 (E286G)

Ref Sequence

ENSEMBL: ENSMUSP00000105885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039540] [ENSMUST00000072482] [ENSMUST00000098708] [ENSMUST00000110253] [ENSMUST00000110255] [ENSMUST00000110256] [ENSMUST00000110258] [ENSMUST00000110259] [ENSMUST00000178982]

AlphaFold

Q6NZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000039540

SMART Domains

Protein: ENSMUSP00000044070
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072482

SMART Domains

Protein: ENSMUSP00000072302
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098708

SMART Domains

Protein: ENSMUSP00000096305
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110253

SMART Domains

Protein: ENSMUSP00000105882
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
RINGv	69	117	2.63e-22	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	187	209	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110255

SMART Domains

Protein: ENSMUSP00000105884
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110256
AA Change: E286G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: E286G

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
low complexity region	111	125	N/A	INTRINSIC
low complexity region	151	165	N/A	INTRINSIC
RINGv	330	378	2.14e-22	SMART
transmembrane domain	406	428	N/A	INTRINSIC
transmembrane domain	448	470	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110258

SMART Domains

Protein: ENSMUSP00000105887
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132019

Predicted Effect

probably benign
Transcript: ENSMUST00000110259

SMART Domains

Protein: ENSMUSP00000105888
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	25	54	N/A	INTRINSIC
RINGv	75	123	2.63e-22	SMART
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178982

SMART Domains

Protein: ENSMUSP00000136545
Gene: ENSMUSG00000036469

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC
RINGv	79	127	2.63e-22	SMART
transmembrane domain	155	177	N/A	INTRINSIC
transmembrane domain	197	219	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal dendritic cell morphology and physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,019,389 (GRCm39)	R184G	probably damaging	Het
2300002M23Rik	C	A	17: 35,879,115 (GRCm39)	A151E	probably benign	Het
A930011G23Rik	C	T	5: 99,380,228 (GRCm39)	R339Q	possibly damaging	Het
Abcd2	T	C	15: 91,075,642 (GRCm39)	Y57C	probably benign	Het
Adprhl1	A	G	8: 13,292,559 (GRCm39)	V244A	probably benign	Het
Agl	T	C	3: 116,574,426 (GRCm39)	N753D	probably benign	Het
Amotl1	T	A	9: 14,486,686 (GRCm39)	M440L	probably benign	Het
Angpt2	A	G	8: 18,742,132 (GRCm39)	Y475H	probably benign	Het
Angpt4	A	T	2: 151,780,874 (GRCm39)	H374L	probably damaging	Het
Ank1	A	T	8: 23,599,270 (GRCm39)	T801S	probably damaging	Het
Ap5m1	G	T	14: 49,323,752 (GRCm39)	A481S	probably damaging	Het
AY358078	G	T	14: 52,063,445 (GRCm39)	G364W	probably damaging	Het
C4b	C	A	17: 34,956,676 (GRCm39)	A641S	probably benign	Het
Capn13	T	C	17: 73,672,943 (GRCm39)	Y120C	probably damaging	Het
Cbx6	T	C	15: 79,712,762 (GRCm39)	T222A	probably benign	Het
Cckar	T	C	5: 53,860,254 (GRCm39)	T192A	probably damaging	Het
Cdc42bpb	T	C	12: 111,262,478 (GRCm39)	D30G	probably damaging	Het
Cdk18	A	G	1: 132,043,690 (GRCm39)	Y385H	probably damaging	Het
Cep170	A	T	1: 176,584,542 (GRCm39)	D612E	probably benign	Het
Dennd4b	G	T	3: 90,182,847 (GRCm39)	R888L	probably damaging	Het
Egf	A	T	3: 129,517,007 (GRCm39)	C373*	probably null	Het
Gabrb2	T	C	11: 42,312,255 (GRCm39)		probably null	Het
Gle1	G	T	2: 29,839,030 (GRCm39)	A482S	probably damaging	Het
Gm10644	T	C	8: 84,660,256 (GRCm39)	T30A	possibly damaging	Het
Gmnn	A	G	13: 24,937,706 (GRCm39)	Y95H	probably damaging	Het
Hectd3	T	A	4: 116,858,100 (GRCm39)	S643T	possibly damaging	Het
Hoga1	A	G	19: 42,049,830 (GRCm39)	Y225C	probably damaging	Het
Hook3	T	C	8: 26,609,011 (GRCm39)	E11G	probably benign	Het
Hsd17b1	C	A	11: 100,969,357 (GRCm39)	S30R	probably benign	Het
Htr3b	G	A	9: 48,858,544 (GRCm39)	P112S	probably damaging	Het
Iqch	T	A	9: 63,432,351 (GRCm39)	D348V	probably damaging	Het
Irgm2	A	T	11: 58,111,254 (GRCm39)	N327I	probably benign	Het
Itgb4	T	C	11: 115,870,450 (GRCm39)	I93T	probably damaging	Het
Lamb2	T	C	9: 108,357,752 (GRCm39)	F92L	probably damaging	Het
Lats2	T	C	14: 57,929,016 (GRCm39)	H953R	probably damaging	Het
Lrp1b	T	C	2: 40,620,714 (GRCm39)	E3588G	probably benign	Het
Mc2r	G	T	18: 68,541,196 (GRCm39)	F32L	probably benign	Het
Mink1	C	T	11: 70,494,623 (GRCm39)	T268M	probably damaging	Het
Mta1	G	A	12: 113,093,815 (GRCm39)		probably null	Het
Muc5b	C	A	7: 141,412,601 (GRCm39)	S1849*	probably null	Het
Myh15	A	G	16: 48,957,874 (GRCm39)	E897G	probably damaging	Het
Nobox	T	C	6: 43,281,819 (GRCm39)	Q418R	possibly damaging	Het
Obsl1	G	T	1: 75,478,861 (GRCm39)	Q626K	probably benign	Het
Or11h4	A	G	14: 50,974,059 (GRCm39)	S187P	probably damaging	Het
Or13a24	T	C	7: 140,154,315 (GRCm39)	V83A	probably benign	Het
Or1j12	A	G	2: 36,343,046 (GRCm39)	T150A	probably benign	Het
Or2w25	T	A	11: 59,503,964 (GRCm39)	M58K	probably damaging	Het
Or5w14	G	A	2: 87,541,549 (GRCm39)	R234C	probably damaging	Het
Or8k24	G	A	2: 86,216,489 (GRCm39)	T91I	probably benign	Het
Or9i1	A	G	19: 13,839,399 (GRCm39)	I81V	probably benign	Het
Pald1	C	T	10: 61,182,915 (GRCm39)	A345T	possibly damaging	Het
Pde8b	G	A	13: 95,162,723 (GRCm39)	P800S	probably damaging	Het
Pgm2l1	G	A	7: 99,917,362 (GRCm39)	C493Y	possibly damaging	Het
Pias3	A	G	3: 96,609,537 (GRCm39)	S311G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,362,692 (GRCm39)	N573D	possibly damaging	Het
Plaat3	A	G	19: 7,556,583 (GRCm39)	D128G	probably damaging	Het
Plxnc1	T	G	10: 94,780,131 (GRCm39)	S104R	probably damaging	Het
Pofut2	T	A	10: 77,103,059 (GRCm39)	F179I	probably damaging	Het
Prkcsh	T	A	9: 21,916,028 (GRCm39)	C112S	probably damaging	Het
Prss32	G	A	17: 24,078,297 (GRCm39)	A328T	probably benign	Het
Ptgir	G	T	7: 16,642,708 (GRCm39)	R103L	probably damaging	Het
Ptpn5	G	A	7: 46,738,350 (GRCm39)	S244F	probably damaging	Het
Rnpepl1	G	A	1: 92,844,545 (GRCm39)	V346I	probably benign	Het
Sh3rf1	T	A	8: 61,825,688 (GRCm39)	V561D	probably damaging	Het
Slc22a19	A	T	19: 7,687,026 (GRCm39)	Y160N	probably benign	Het
Sorbs3	A	G	14: 70,428,880 (GRCm39)		probably null	Het
Sostdc1	T	G	12: 36,367,295 (GRCm39)	I157S	probably damaging	Het
Svil	G	T	18: 5,099,534 (GRCm39)	R1777L	probably damaging	Het
Svil	A	T	18: 5,099,615 (GRCm39)	E1804V	probably damaging	Het
Tasor	T	A	14: 27,188,141 (GRCm39)	N862K	possibly damaging	Het
Thbs4	A	G	13: 92,911,302 (GRCm39)	S294P	probably benign	Het
Tle2	A	G	10: 81,426,111 (GRCm39)	Y750C	probably damaging	Het
Tmcc3	T	C	10: 94,418,168 (GRCm39)	L312P	probably damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,780,475 (GRCm39)	M734K	probably benign	Het
Trmt2a	A	T	16: 18,070,859 (GRCm39)	R531W	probably benign	Het
Ubn2	C	T	6: 38,461,029 (GRCm39)	R483W	probably damaging	Het
Zc3hav1	T	A	6: 38,284,343 (GRCm39)	Y924F	probably damaging	Het

Other mutations in Marchf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Marchf1	APN	8	66,871,529 (GRCm39)	missense	possibly damaging	0.88
IGL02468:Marchf1	APN	8	66,871,563 (GRCm39)	missense	probably damaging	1.00
R0391:Marchf1	UTSW	8	66,871,625 (GRCm39)	missense	probably damaging	1.00
R1500:Marchf1	UTSW	8	66,921,042 (GRCm39)	missense	probably damaging	1.00
R1794:Marchf1	UTSW	8	66,839,594 (GRCm39)	missense	possibly damaging	0.63
R2015:Marchf1	UTSW	8	66,574,473 (GRCm39)	missense	probably damaging	0.99
R2273:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2274:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2275:Marchf1	UTSW	8	66,840,151 (GRCm39)	missense	probably benign	0.15
R2314:Marchf1	UTSW	8	66,574,442 (GRCm39)	start codon destroyed	probably null	0.77
R3114:Marchf1	UTSW	8	66,840,033 (GRCm39)	missense	probably benign
R4458:Marchf1	UTSW	8	66,908,823 (GRCm39)	missense	probably damaging	1.00
R4656:Marchf1	UTSW	8	66,839,071 (GRCm39)	missense	probably benign	0.05
R4773:Marchf1	UTSW	8	66,839,876 (GRCm39)	missense	probably benign	0.03
R4838:Marchf1	UTSW	8	66,921,015 (GRCm39)	missense	probably damaging	1.00
R5073:Marchf1	UTSW	8	66,839,020 (GRCm39)	missense	probably benign	0.03
R5507:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R5575:Marchf1	UTSW	8	66,920,962 (GRCm39)	missense	probably damaging	1.00
R5916:Marchf1	UTSW	8	66,839,763 (GRCm39)	missense	possibly damaging	0.89
R6931:Marchf1	UTSW	8	66,921,144 (GRCm39)	missense	probably benign	0.03
R7350:Marchf1	UTSW	8	66,921,051 (GRCm39)	nonsense	probably null
R7487:Marchf1	UTSW	8	66,908,726 (GRCm39)	missense	probably benign	0.14
R7531:Marchf1	UTSW	8	66,838,989 (GRCm39)	missense	probably benign
R7563:Marchf1	UTSW	8	66,920,965 (GRCm39)	missense	probably damaging	1.00
R7705:Marchf1	UTSW	8	66,921,169 (GRCm39)	missense	probably benign	0.00
R8142:Marchf1	UTSW	8	66,908,778 (GRCm39)	missense	probably benign	0.07
R8337:Marchf1	UTSW	8	66,871,641 (GRCm39)	missense	probably damaging	1.00
R8712:Marchf1	UTSW	8	66,921,000 (GRCm39)	missense	probably damaging	1.00
R9188:Marchf1	UTSW	8	66,908,803 (GRCm39)	nonsense	probably null
R9372:Marchf1	UTSW	8	66,921,145 (GRCm39)	missense	probably benign	0.01
R9477:Marchf1	UTSW	8	66,871,542 (GRCm39)	missense	probably damaging	1.00
R9790:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17
R9791:Marchf1	UTSW	8	66,729,339 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- TGACAGAATGTGGGAGTCAC -3'
(R):5'- TGAGCTCCCATCCAGAAGAC -3'

Sequencing Primer
(F):5'- GTGGGAGTCACACTTTAAACATCTG -3'
(R):5'- CCAGAAGACTTATAATTGGGTTGCG -3'

Posted On

2014-10-02