Mutagenetix > Incidental Mutation

Incidental Mutation 'R4384:Marchf2'

326138

Institutional Source

Beutler Lab

Gene Symbol

Marchf2

Ensembl Gene

ENSMUSG00000079557

Gene Name

membrane associated ring-CH-type finger 2

Synonyms

9530046H09Rik, March2

MMRRC Submission

042002-MU

Accession Numbers

Essential gene?

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

Stock #

R4384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33904666-33937644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 33915167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 142 (M142I)

Ref Sequence

ENSEMBL: ENSMUSP00000133802 (fasta)

Gene Model

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

AlphaFold

Q99M02

Predicted Effect

probably benign
Transcript: ENSMUST00000066121
AA Change: M142I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065225
Gene: ENSMUSG00000079557
AA Change: M142I

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 benign
Transcript: ENSMUST00000167611
AA Change: M142I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127601
Gene: ENSMUSG00000079557
AA Change: M142I

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 benign
Transcript: ENSMUST00000172767
AA Change: M142I

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134220
Gene: ENSMUSG00000079557
AA Change: M142I

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 benign
Transcript: ENSMUST00000172934
AA Change: M142I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000134026
Gene: ENSMUSG00000079557
AA Change: M142I

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 benign
Transcript: ENSMUST00000173015
AA Change: M142I

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133802
Gene: ENSMUSG00000079557
AA Change: M142I

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 benign
Transcript: ENSMUST00000173329
AA Change: M142I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000133825
Gene: ENSMUSG00000079557
AA Change: M142I

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: ENSMUST00000173454
AA Change: M81I

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

SMART Domains

Protein: ENSMUSP00000133940
Gene: ENSMUSG00000079557
AA Change: M81I

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 benign
Transcript: ENSMUST00000174040
AA Change: M162I

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

SMART Domains

Protein: ENSMUSP00000134437
Gene: ENSMUSG00000079557
AA Change: M162I

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 benign
Transcript: ENSMUST00000186022
AA Change: M142I

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000139724
Gene: ENSMUSG00000079557
AA Change: M142I

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

Meta Mutation Damage Score

0.1211

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (56/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,805 (GRCm39)	V27E	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
Arhgef10	T	A	8: 14,980,157 (GRCm39)	C132*	probably null	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Brip1	A	T	11: 86,039,255 (GRCm39)	D426E	possibly damaging	Het
Cadps2	T	A	6: 23,412,987 (GRCm39)	Q654L	probably benign	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Cntnap3	A	G	13: 64,896,274 (GRCm39)	Y1067H	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Ddias	G	A	7: 92,507,431 (GRCm39)	T828I	probably damaging	Het
Dennd4c	A	G	4: 86,729,687 (GRCm39)	Y763C	probably damaging	Het
Dscam	T	A	16: 96,510,416 (GRCm39)	I948F	probably damaging	Het
E030018B13Rik	A	G	7: 63,569,141 (GRCm39)		probably benign	Het
E2f8	G	A	7: 48,516,847 (GRCm39)	T844I	possibly damaging	Het
Eps8	T	A	6: 137,476,590 (GRCm39)	H603L	probably benign	Het
Esrrg	G	A	1: 187,775,908 (GRCm39)	C122Y	probably damaging	Het
Frmd4a	C	T	2: 4,599,374 (GRCm39)	R467*	probably null	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Gpat4	A	G	8: 23,664,602 (GRCm39)	I446T	probably benign	Het
Klhl12	T	G	1: 134,415,392 (GRCm39)	D435E	probably damaging	Het
Luc7l	T	C	17: 26,498,936 (GRCm39)		probably benign	Het
Marf1	T	A	16: 13,960,505 (GRCm39)	Y513F	possibly damaging	Het
Mdm2	T	C	10: 117,532,344 (GRCm39)	D114G	possibly damaging	Het
Med1	G	A	11: 98,043,688 (GRCm39)		probably benign	Het
Meikin	C	T	11: 54,308,613 (GRCm39)	Q404*	probably null	Het
Myh9	A	T	15: 77,675,912 (GRCm39)		probably benign	Het
Mylip	T	C	13: 45,543,434 (GRCm39)	M1T	probably null	Het
Ncapg2	T	C	12: 116,403,497 (GRCm39)		probably null	Het
Nmd3	T	C	3: 69,631,731 (GRCm39)		probably benign	Het
Nwd2	T	A	5: 63,963,914 (GRCm39)	L1166H	probably damaging	Het
Or1j13	A	G	2: 36,370,010 (GRCm39)	L44P	probably damaging	Het
Or8b48	T	C	9: 38,493,349 (GRCm39)	Y259H	probably damaging	Het
Rubcn	A	G	16: 32,677,272 (GRCm39)	I71T	probably damaging	Het
Rwdd3	T	C	3: 120,952,406 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,620,119 (GRCm39)	E3826G	probably damaging	Het
Sdad1	T	C	5: 92,446,116 (GRCm39)	Q273R	probably benign	Het
Sdha	A	T	13: 74,475,104 (GRCm39)	I579K	possibly damaging	Het
Sema4d	A	G	13: 51,856,919 (GRCm39)	L771P	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc6a11	A	G	6: 114,224,688 (GRCm39)	E624G	possibly damaging	Het
Tada3	G	T	6: 113,347,340 (GRCm39)	R117S	probably damaging	Het
Tm9sf3	T	C	19: 41,236,372 (GRCm39)	M130V	probably damaging	Het
Trpc1	C	A	9: 95,614,161 (GRCm39)	M34I	probably benign	Het
Trpc4ap	A	G	2: 155,482,427 (GRCm39)	V521A	possibly damaging	Het
Trpm2	A	G	10: 77,753,559 (GRCm39)	V1315A	probably benign	Het
Tvp23a	A	G	16: 10,246,546 (GRCm39)	S80P	probably benign	Het
Usp54	A	T	14: 20,600,153 (GRCm39)		probably null	Het
Vmn2r27	A	G	6: 124,201,115 (GRCm39)	Y281H	probably benign	Het
Vwf	T	A	6: 125,632,079 (GRCm39)	I37N	unknown	Het
Zfp329	G	A	7: 12,545,584 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,005 (GRCm39)	L91F	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
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
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

PCR Primer
(F):5'- TCCCTGGACCTGTGTTACAATG -3'
(R):5'- GCACTCAGCAGACTCCTTTC -3'

Sequencing Primer
(F):5'- GACCTGTGTTACAATGTCAACCTGG -3'
(R):5'- CTCAGCAGACTCCTTTCATTAATAG -3'

Posted On

2015-07-06