Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:March3'

541482

Institutional Source

Beutler Lab

Gene Symbol

March3

Ensembl Gene

ENSMUSG00000032656

Gene Name

membrane-associated ring finger (C3HC4) 3

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56761716-56925548 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56775981 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 244 (V244A)

Ref Sequence

ENSEMBL: ENSMUSP00000047946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035278] [ENSMUST00000102912]

AlphaFold

Q8BRX9

Predicted Effect

probably benign
Transcript: ENSMUST00000035278
AA Change: V244A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: V244A

Domain	Start	End	E-Value	Type
RINGv	70	117	1.02e-19	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	182	204	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102912

SMART Domains

Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656

Domain	Start	End	E-Value	Type
RINGv	70	117	1.02e-19	SMART
transmembrane domain	145	167	N/A	INTRINSIC
transmembrane domain	182	201	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-associated RING-CH (MARCH) family. The encoded protein is an E3 ubiquitin-protein ligase that may be involved in regulation of the endosomal transport pathway. [provided by RefSeq, Mar 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably damaging	Het

Other mutations in March3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:March3	APN	18	56807681	missense	probably benign	0.24
R0625:March3	UTSW	18	56811830	critical splice donor site	probably null
R0990:March3	UTSW	18	56807798	missense	probably damaging	1.00
R1353:March3	UTSW	18	56776105	splice site	probably null
R1653:March3	UTSW	18	56811895	missense	probably benign	0.00
R2072:March3	UTSW	18	56811853	missense	possibly damaging	0.88
R4746:March3	UTSW	18	56776072	missense	probably damaging	1.00
R4771:March3	UTSW	18	56783098	missense	probably benign	0.19
R7152:March3	UTSW	18	56775981	missense	probably benign	0.01
R7202:March3	UTSW	18	56776089	missense	probably benign	0.02
R7272:March3	UTSW	18	56762521	missense	probably benign
R7813:March3	UTSW	18	56783091	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCTCACTCAGGCAATGTGG -3'
(R):5'- GTCCCAGTCCTGTGTTTAAATG -3'

Sequencing Primer
(F):5'- GGTAACATGGCTCCAGATGTTC -3'
(R):5'- GAATTGGCTGCCAACCTCTG -3'

Posted On

2018-11-28