Mutagenetix > Incidental Mutation

Incidental Mutation 'R7541:Marchf2'

583914

Institutional Source

Beutler Lab

Gene Symbol

Marchf2

Ensembl Gene

ENSMUSG00000079557

Gene Name

membrane associated ring-CH-type finger 2

Synonyms

9530046H09Rik, March2

MMRRC Submission

045613-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7541 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33904666-33937644 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 33922032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 109 (C109*)

Ref Sequence

ENSEMBL: ENSMUSP00000065225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066121] [ENSMUST00000167611] [ENSMUST00000172767] [ENSMUST00000172934] [ENSMUST00000173015] [ENSMUST00000173329] [ENSMUST00000173392] [ENSMUST00000173454] [ENSMUST00000174040] [ENSMUST00000186022]

AlphaFold

Q99M02

Predicted Effect

probably null
Transcript: ENSMUST00000066121
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000065225
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	143	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167611
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000127601
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	143	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172767
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000134220
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	143	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000172934
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000134026
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	176	195	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173015
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000133802
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	179	201	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000173329
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000133825
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	174	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173392

SMART Domains

Protein: ENSMUSP00000134255
Gene: ENSMUSG00000079557

Domain	Start	End	E-Value	Type
Blast:RINGv	63	82	6e-7	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000173454
AA Change: C48*

SMART Domains

Protein: ENSMUSP00000133940
Gene: ENSMUSG00000079557
AA Change: C48*

Domain	Start	End	E-Value	Type
RINGv	2	49	2.86e-23	SMART
transmembrane domain	82	99	N/A	INTRINSIC
transmembrane domain	114	136	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174040
AA Change: C129*

SMART Domains

Protein: ENSMUSP00000134437
Gene: ENSMUSG00000079557
AA Change: C129*

Domain	Start	End	E-Value	Type
RINGv	83	130	2.86e-23	SMART
transmembrane domain	158	180	N/A	INTRINSIC
transmembrane domain	193	215	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000186022
AA Change: C109*

SMART Domains

Protein: ENSMUSP00000139724
Gene: ENSMUSG00000079557
AA Change: C109*

Domain	Start	End	E-Value	Type
RINGv	63	110	2.86e-23	SMART
transmembrane domain	143	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

96% (51/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH2 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. MARCH2 reduces surface accumulation of several glycoproteins and appears to regulate early endosome-to-trans-Golgi network (TGN) trafficking (Bartee et al., 2004 [PubMed 14722266]; Nakamura et al., 2005 [PubMed 15689499]).[supplied by OMIM, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,610 (GRCm39)		probably null	Het
Adamts10	G	A	17: 33,750,590 (GRCm39)	R210H	probably benign	Het
Als2	T	C	1: 59,206,775 (GRCm39)		probably null	Het
Aplp2	A	T	9: 31,063,652 (GRCm39)	M652K	possibly damaging	Het
Atrn	A	G	2: 130,803,491 (GRCm39)	I560M	possibly damaging	Het
Bicc1	T	C	10: 70,782,434 (GRCm39)	D602G	possibly damaging	Het
Bnip5	G	A	17: 29,124,298 (GRCm39)	R335W	probably damaging	Het
Cd200l2	T	A	16: 45,348,855 (GRCm39)	T106S	possibly damaging	Het
Cdh4	A	G	2: 179,086,603 (GRCm39)		probably null	Het
Clasp1	T	A	1: 118,470,727 (GRCm39)		probably null	Het
Col6a6	A	G	9: 105,644,523 (GRCm39)	I1255T	probably damaging	Het
Comp	G	T	8: 70,834,000 (GRCm39)	V672L	probably damaging	Het
Dbnl	T	G	11: 5,745,486 (GRCm39)	D122E	probably damaging	Het
Dgkz	G	A	2: 91,773,020 (GRCm39)	R346C	probably damaging	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Elmo3	T	C	8: 106,033,346 (GRCm39)	I121T	probably damaging	Het
Fam184b	A	G	5: 45,699,574 (GRCm39)	L614P	probably damaging	Het
Fbh1	T	C	2: 11,754,348 (GRCm39)	R797G	probably benign	Het
Fcgbpl1	T	A	7: 27,843,681 (GRCm39)	C856*	probably null	Het
Gata6	A	G	18: 11,059,108 (GRCm39)	T392A	probably damaging	Het
Gm29609	A	G	5: 31,311,576 (GRCm39)	F855S	probably benign	Het
Gm3424	T	C	14: 17,337,195 (GRCm39)	N88D	possibly damaging	Het
Gnas	T	A	2: 174,139,892 (GRCm39)	S80T	unknown	Het
Hsd17b14	C	A	7: 45,215,570 (GRCm39)	P190Q	probably damaging	Het
Iqch	C	T	9: 63,352,803 (GRCm39)	V955I	possibly damaging	Het
Kcnt2	T	C	1: 140,304,122 (GRCm39)	V164A	probably benign	Het
Krt87	A	G	15: 101,336,515 (GRCm39)	L46P	probably damaging	Het
Lef1	A	G	3: 130,984,748 (GRCm39)	M237V	probably benign	Het
Lmbr1l	A	T	15: 98,807,267 (GRCm39)		probably null	Het
Lrrc49	T	C	9: 60,517,686 (GRCm39)	I408V	probably damaging	Het
Luc7l3	T	C	11: 94,186,791 (GRCm39)	S365G	unknown	Het
Metrnl	T	A	11: 121,606,796 (GRCm39)	C284S	probably damaging	Het
Mmachc	G	A	4: 116,563,082 (GRCm39)	T91I	probably benign	Het
Mrps7	T	G	11: 115,497,696 (GRCm39)	M187R	probably damaging	Het
Ncapd3	A	G	9: 26,978,336 (GRCm39)	E845G	probably damaging	Het
Nscme3l	G	A	19: 5,553,439 (GRCm39)	P114L	probably benign	Het
Ooep	T	A	9: 78,285,347 (GRCm39)	T90S	possibly damaging	Het
Or13c25	A	T	4: 52,911,376 (GRCm39)	D139E	probably benign	Het
Or2y1g	T	A	11: 49,171,160 (GRCm39)	F62I	probably damaging	Het
Pcdhb18	A	T	18: 37,624,662 (GRCm39)	D664V	probably damaging	Het
Pigz	T	C	16: 31,763,949 (GRCm39)	S336P	probably benign	Het
Pou2f2	A	T	7: 24,815,553 (GRCm39)	D71E	probably benign	Het
Reep6	G	T	10: 80,171,033 (GRCm39)	R303L	possibly damaging	Het
Rmdn2	A	T	17: 79,935,297 (GRCm39)	S137C		Het
Rnf220	A	T	4: 117,347,127 (GRCm39)	L95H	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Stxbp1	A	T	2: 32,708,517 (GRCm39)	S83T	probably damaging	Het
Tcstv7b	A	T	13: 120,702,515 (GRCm39)	M104L	probably benign	Het
Trappc11	T	C	8: 47,958,617 (GRCm39)		probably null	Het
Ttn	G	T	2: 76,621,645 (GRCm39)	D15598E	probably damaging	Het
Vav2	T	A	2: 27,165,014 (GRCm39)	R645W	probably damaging	Het
Vmn1r169	T	A	7: 23,277,412 (GRCm39)	V268D	probably benign	Het
Zp2	A	T	7: 119,735,279 (GRCm39)	C365S	probably damaging	Het

Other mutations in Marchf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Marchf2	APN	17	33,922,070 (GRCm39)	missense	probably damaging	1.00
IGL02562:Marchf2	APN	17	33,915,048 (GRCm39)	missense	probably damaging	1.00
R1022:Marchf2	UTSW	17	33,928,762 (GRCm39)	missense	probably damaging	1.00
R1024:Marchf2	UTSW	17	33,928,762 (GRCm39)	missense	probably damaging	1.00
R1398:Marchf2	UTSW	17	33,915,096 (GRCm39)	missense	probably damaging	1.00
R4384:Marchf2	UTSW	17	33,915,167 (GRCm39)	missense	probably benign	0.34
R4760:Marchf2	UTSW	17	33,928,890 (GRCm39)	missense	probably damaging	1.00
R4776:Marchf2	UTSW	17	33,928,890 (GRCm39)	missense	probably damaging	1.00
R8856:Marchf2	UTSW	17	33,915,165 (GRCm39)	missense	probably benign	0.42
R9005:Marchf2	UTSW	17	33,915,207 (GRCm39)	missense	probably damaging	1.00
R9555:Marchf2	UTSW	17	33,922,129 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAATCCCTCCCAGCATTGG -3'
(R):5'- GCTTGTAACCTAGCAAGTGC -3'

Sequencing Primer
(F):5'- GCATTGGCGGGGACATAATC -3'
(R):5'- CTGATGTTAGTCTAAACAAGGAACCG -3'

Posted On

2019-10-17