Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01668:Marchf2'

103385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marchf2

Ensembl Gene

ENSMUSG00000079557

Gene Name

membrane associated ring-CH-type finger 2

Synonyms

9530046H09Rik, March2

Accession Numbers

Essential gene?

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

Stock #

IGL01668

Quality Score

Status

Chromosome

Chromosomal Location

33904666-33937644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33922070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Glycine at position 97 (W97G)

Ref Sequence

ENSEMBL: ENSMUSP00000139724 (fasta)

Gene Model

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

AlphaFold

Q99M02

Predicted Effect

probably damaging
Transcript: ENSMUST00000066121
AA Change: W97G

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

SMART Domains

Protein: ENSMUSP00000065225
Gene: ENSMUSG00000079557
AA Change: W97G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000127601
Gene: ENSMUSG00000079557
AA Change: W97G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000134220
Gene: ENSMUSG00000079557
AA Change: W97G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000134026
Gene: ENSMUSG00000079557
AA Change: W97G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000133802
Gene: ENSMUSG00000079557
AA Change: W97G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000133825
Gene: ENSMUSG00000079557
AA Change: W97G

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 damaging
Transcript: ENSMUST00000174040
AA Change: W117G

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

SMART Domains

Protein: ENSMUSP00000134437
Gene: ENSMUSG00000079557
AA Change: W117G

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: W97G

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

SMART Domains

Protein: ENSMUSP00000139724
Gene: ENSMUSG00000079557
AA Change: W97G

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: ENSMUST00000173454
AA Change: W36G

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

SMART Domains

Protein: ENSMUSP00000133940
Gene: ENSMUSG00000079557
AA Change: W36G

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3d1	A	G	10: 80,554,993 (GRCm39)	V444A	possibly damaging	Het
Chd9	A	T	8: 91,753,404 (GRCm39)	H1799L	possibly damaging	Het
Cic	C	T	7: 24,990,629 (GRCm39)	P1108S	possibly damaging	Het
Clba1	T	C	12: 112,773,264 (GRCm39)	S86P	probably damaging	Het
Cldn16	T	A	16: 26,301,296 (GRCm39)	Y201*	probably null	Het
Col6a6	C	A	9: 105,586,470 (GRCm39)	R1850S	probably damaging	Het
Cryge	A	G	1: 65,087,857 (GRCm39)	Y151H	probably damaging	Het
Dhcr7	T	A	7: 143,397,048 (GRCm39)	V180D	probably damaging	Het
Dmwd	C	T	7: 18,815,080 (GRCm39)	R577W	probably damaging	Het
Gm5884	A	G	6: 128,622,377 (GRCm39)		noncoding transcript	Het
Gm5901	C	T	7: 105,026,771 (GRCm39)	R180C	probably benign	Het
Hook2	A	T	8: 85,720,207 (GRCm39)	Y131F	possibly damaging	Het
Hsf1	T	C	15: 76,381,162 (GRCm39)		probably null	Het
Ighv1-62-3	A	G	12: 115,424,613 (GRCm39)		probably benign	Het
Ikbke	T	G	1: 131,184,675 (GRCm39)	D666A	probably benign	Het
Il1r1	C	T	1: 40,352,489 (GRCm39)	T556I	probably benign	Het
Larp4	T	C	15: 99,885,355 (GRCm39)	S69P	probably damaging	Het
Lrrc27	G	T	7: 138,807,827 (GRCm39)		probably benign	Het
Or4c10b	C	A	2: 89,711,443 (GRCm39)	P91Q	probably benign	Het
Or5b21	A	G	19: 12,839,231 (GRCm39)	I31V	probably benign	Het
Or8k28	A	G	2: 86,285,746 (GRCm39)	Y290H	probably damaging	Het
Pah	T	A	10: 87,414,123 (GRCm39)	I324N	probably damaging	Het
Pcdhb7	A	G	18: 37,476,205 (GRCm39)	E447G	probably benign	Het
Prex2	T	C	1: 11,223,869 (GRCm39)	V731A	probably benign	Het
Prpsap2	A	G	11: 61,646,277 (GRCm39)	V44A	probably benign	Het
Rp1	T	C	1: 4,415,941 (GRCm39)	N1724D	probably damaging	Het
Sap130	A	G	18: 31,813,493 (GRCm39)	N517D	probably damaging	Het
Slc13a3	A	C	2: 165,272,212 (GRCm39)	F277C	probably damaging	Het
Snx19	A	G	9: 30,339,119 (GRCm39)	T86A	probably benign	Het
Tbc1d32	A	T	10: 55,999,673 (GRCm39)	V833D	probably benign	Het
Washc2	A	G	6: 116,239,299 (GRCm39)	D1290G	probably damaging	Het
Wdr87-ps	G	A	7: 29,236,855 (GRCm39)		noncoding transcript	Het

Other mutations in Marchf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-01-21