Mutagenetix > Incidental Mutation

Incidental Mutation 'R1024:Marchf2'

94824

Institutional Source

Beutler Lab

Gene Symbol

Marchf2

Ensembl Gene

ENSMUSG00000079557

Gene Name

membrane associated ring-CH-type finger 2

Synonyms

9530046H09Rik, March2

MMRRC Submission

039126-MU

Accession Numbers

Essential gene?

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

Stock #

R1024 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

33904666-33937644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33928762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 45 (G45C)

Ref Sequence

ENSEMBL: ENSMUSP00000139724 (fasta)

Gene Model

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

AlphaFold

Q99M02

Predicted Effect

probably damaging
Transcript: ENSMUST00000066121
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065225
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000167611
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127601
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000172767
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134220
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000172934
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134026
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000173015
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133802
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000173329
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133825
Gene: ENSMUSG00000079557
AA Change: G45C

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 damaging
Transcript: ENSMUST00000173392
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134255
Gene: ENSMUSG00000079557
AA Change: G45C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000174040
AA Change: G65C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134437
Gene: ENSMUSG00000079557
AA Change: G65C

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 damaging
Transcript: ENSMUST00000186022
AA Change: G45C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139724
Gene: ENSMUSG00000079557
AA Change: G45C

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: 99.5%
3x: 98.4%
10x: 95.6%
20x: 90.2%

Validation Efficiency

90% (36/40)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,327,157 (GRCm39)	S719P	probably damaging	Het
Atxn2l	A	T	7: 126,096,466 (GRCm39)	N425K	probably benign	Het
B3galt4	G	A	17: 34,169,813 (GRCm39)	R142C	probably damaging	Het
Cacna2d2	T	C	9: 107,404,249 (GRCm39)		probably null	Het
Ccar2	A	G	14: 70,377,964 (GRCm39)	S674P	probably damaging	Het
Ccm2	T	A	11: 6,520,119 (GRCm39)	Y56*	probably null	Het
Cdc14b	A	T	13: 64,363,490 (GRCm39)	V257E	probably damaging	Het
Cdca8	A	C	4: 124,815,798 (GRCm39)	S171R	probably benign	Het
Cep192	C	T	18: 67,971,125 (GRCm39)	T1042I	probably benign	Het
Cfap100	T	A	6: 90,389,986 (GRCm39)	T101S	possibly damaging	Het
Cfap46	T	A	7: 139,222,513 (GRCm39)	M1155L	probably benign	Het
Cyp3a13	T	A	5: 137,892,626 (GRCm39)	I473F	possibly damaging	Het
Dclk3	A	G	9: 111,298,138 (GRCm39)	I561V	possibly damaging	Het
Dock6	A	T	9: 21,744,908 (GRCm39)	L556H	probably damaging	Het
Dqx1	G	A	6: 83,038,070 (GRCm39)	C486Y	probably damaging	Het
Drd1	T	A	13: 54,207,333 (GRCm39)	M294L	probably benign	Het
Dsel	A	G	1: 111,788,403 (GRCm39)	S711P	probably damaging	Het
Fcho2	A	T	13: 98,869,167 (GRCm39)	I568N	probably damaging	Het
Folr1	A	G	7: 101,507,810 (GRCm39)	M210T	probably damaging	Het
Gatc	T	A	5: 115,478,904 (GRCm39)		probably null	Het
Gja8	A	T	3: 96,826,740 (GRCm39)	F307L	probably benign	Het
H1f7	G	A	15: 98,154,636 (GRCm39)	T171I	unknown	Het
Hnrnpd	C	A	5: 100,114,016 (GRCm39)	*87L	probably null	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Igfals	G	A	17: 25,099,457 (GRCm39)	V183M	probably damaging	Het
Izumo1	A	G	7: 45,276,598 (GRCm39)	Y387C	probably benign	Het
Kdm5a	A	G	6: 120,375,999 (GRCm39)	N585S	probably null	Het
Myo15a	A	T	11: 60,370,442 (GRCm39)	R1067S	probably benign	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nell1	A	G	7: 49,770,411 (GRCm39)	S157G	probably damaging	Het
Nf1	A	T	11: 79,437,859 (GRCm39)	E2072D	probably damaging	Het
Nipal1	CGGG	CGG	5: 72,825,334 (GRCm39)		probably null	Het
Nop2	T	A	6: 125,114,149 (GRCm39)	V205E	probably benign	Het
Nphs1	G	T	7: 30,173,702 (GRCm39)	S939I	probably damaging	Het
Nudt8	T	A	19: 4,051,925 (GRCm39)	W179R	probably damaging	Het
Nutm1	A	T	2: 112,080,274 (GRCm39)	I547N	probably benign	Het
Oog2	A	C	4: 143,922,856 (GRCm39)	T374P	probably damaging	Het
Or4k5	A	T	14: 50,385,384 (GRCm39)	F316I	probably benign	Het
Or8b54	C	A	9: 38,686,631 (GRCm39)	L27I	probably damaging	Het
Otud4	T	A	8: 80,390,722 (GRCm39)	M413K	probably benign	Het
Pear1	A	G	3: 87,667,606 (GRCm39)		probably benign	Het
Pla2g3	G	A	11: 3,438,551 (GRCm39)	C67Y	probably damaging	Het
Plxdc2	A	G	2: 16,716,917 (GRCm39)	T334A	probably benign	Het
Ppl	G	A	16: 4,917,864 (GRCm39)	R543W	probably damaging	Het
Prl5a1	G	A	13: 28,333,880 (GRCm39)	V128I	probably damaging	Het
Pth1r	A	T	9: 110,571,295 (GRCm39)	L25Q	probably damaging	Het
Pth1r	T	C	9: 110,558,689 (GRCm39)	D96G	probably benign	Het
Rfpl4	G	T	7: 5,113,517 (GRCm39)	D215E	probably damaging	Het
Rnf146	T	A	10: 29,223,092 (GRCm39)	R265*	probably null	Het
Rpe65	T	C	3: 159,312,122 (GRCm39)	I207T	probably benign	Het
Rptn	A	G	3: 93,305,532 (GRCm39)	E955G	possibly damaging	Het
Rwdd2b	A	T	16: 87,233,738 (GRCm39)	C121S	probably damaging	Het
Scn10a	A	G	9: 119,438,340 (GRCm39)	I1843T	probably damaging	Het
Sirt5	A	G	13: 43,524,245 (GRCm39)	I6V	probably benign	Het
Slc25a36	A	G	9: 96,961,254 (GRCm39)	Y261H	probably damaging	Het
Slc5a3	G	A	16: 91,874,383 (GRCm39)	A147T	probably damaging	Het
Stk39	T	C	2: 68,240,390 (GRCm39)	S114G	probably damaging	Het
Stxbp1	T	C	2: 32,704,979 (GRCm39)		probably null	Het
Syt3	G	T	7: 44,040,106 (GRCm39)	G113V	probably damaging	Het
Tatdn2	A	G	6: 113,686,506 (GRCm39)	T644A	probably damaging	Het
Trim9	T	A	12: 70,298,791 (GRCm39)		probably null	Het
Tut1	A	G	19: 8,936,719 (GRCm39)	N181S	probably benign	Het
Vill	T	C	9: 118,895,892 (GRCm39)	S151P	probably damaging	Het
Vmn2r90	A	T	17: 17,948,400 (GRCm39)	I549F	probably damaging	Het
Wdfy4	T	C	14: 32,801,923 (GRCm39)	T1912A	possibly 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
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
R7541:Marchf2	UTSW	17	33,922,032 (GRCm39)	nonsense	probably null
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

Posted On

2014-01-05