Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Marchf1'

242731

Institutional Source

Beutler Lab

Gene Symbol

Marchf1

Ensembl Gene

ENSMUSG00000036469

Gene Name

membrane associated ring-CH-type finger 1

Synonyms

March1, 2900024D24Rik

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66070552-66924289 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66840151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 311 (N311K)

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: N311K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105885
Gene: ENSMUSG00000036469
AA Change: N311K

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Aco2	C	T	15: 81,779,465 (GRCm39)	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Adgrb2	G	A	4: 129,900,647 (GRCm39)	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,865,010 (GRCm39)	F374Y	possibly damaging	Het
Atxn7	T	A	14: 14,013,268 (GRCm38)	M62K	possibly damaging	Het
C87436	G	A	6: 86,422,582 (GRCm39)	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,532,640 (GRCm39)	S701P	probably damaging	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,733,702 (GRCm39)	S563L	probably benign	Het
Cfap276	A	G	3: 108,449,819 (GRCm39)	N33D	possibly damaging	Het
Col12a1	A	T	9: 79,542,709 (GRCm39)	V2352E	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csad	G	T	15: 102,095,557 (GRCm39)	R167S	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Ehmt2	T	A	17: 35,129,691 (GRCm39)	N951K	possibly damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,761,190 (GRCm39)	Y221D	probably damaging	Het
Exoc3l	A	T	8: 106,017,079 (GRCm39)		probably null	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Faiml	T	C	9: 99,111,612 (GRCm39)	Y149C	probably benign	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Glg1	A	T	8: 111,895,353 (GRCm39)	Y819*	probably null	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gm28042	A	C	2: 119,867,310 (GRCm39)	Q465P	probably damaging	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr158	A	T	2: 21,831,674 (GRCm39)	M925L	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
Knl1	C	A	2: 118,902,762 (GRCm39)	Q1488K	probably damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Mypn	A	G	10: 62,966,848 (GRCm39)	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nrarp	T	C	2: 25,071,421 (GRCm39)	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,109,873 (GRCm39)	F324S	probably damaging	Het
Ntrk2	T	A	13: 59,009,165 (GRCm39)	Y319N	probably damaging	Het
Odad2	C	A	18: 7,223,676 (GRCm39)	G456W	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Parg	A	G	14: 32,017,195 (GRCm39)	D384G	probably damaging	Het
Pde7b	T	A	10: 20,276,165 (GRCm39)	*460L	probably null	Het
Pigr	G	T	1: 130,774,207 (GRCm39)	V396L	probably benign	Het
Pkhd1	A	G	1: 20,271,073 (GRCm39)	I3160T	possibly damaging	Het
Ppl	T	C	16: 4,912,416 (GRCm39)	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,342,713 (GRCm39)	E781G	possibly damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260 (GRCm39)	R522H	probably damaging	Het
Senp7	T	C	16: 56,005,146 (GRCm39)	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,855,411 (GRCm39)	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Slco4a1	T	C	2: 180,106,529 (GRCm39)	L237P	possibly damaging	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
Tia1	A	G	6: 86,404,659 (GRCm39)	N298S	probably benign	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Ttc6	G	A	12: 57,749,084 (GRCm39)	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,996,807 (GRCm39)	L237P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,023,930 (GRCm39)	R884G	probably benign	Het
Vmn2r60	T	A	7: 41,786,251 (GRCm39)	Y351*	probably null	Het
Zbtb7a	G	A	10: 80,980,831 (GRCm39)	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 74,121,871 (GRCm39)	N127K	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
R2184:Marchf1	UTSW	8	66,840,075 (GRCm39)	missense	probably benign	0.07
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
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'- AGAATGCAGTCATCCACCGC -3'
(R):5'- TGCCCATTTCTATTCCAGGATAAG -3'

Sequencing Primer
(F):5'- TCCTTGGTGGAGAGGACAC -3'
(R):5'- AAAACCCAATCCCATGTTTTTGTACC -3'

Posted On

2014-10-16