Mutagenetix > Incidental Mutation

Incidental Mutation 'R7813:Marchf3'

601318

Institutional Source

Beutler Lab

Gene Symbol

Marchf3

Ensembl Gene

ENSMUSG00000032656

Gene Name

membrane associated ring-CH-type finger 3

Synonyms

March3, A530081L18Rik, 6330411I15Rik

MMRRC Submission

045868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R7813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56894788-57058587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56916163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 177 (S177R)

Ref Sequence

ENSEMBL: ENSMUSP00000099976 (fasta)

Gene Model

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

AlphaFold

Q8BRX9

Predicted Effect

probably benign
Transcript: ENSMUST00000035278
AA Change: S177R

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

SMART Domains

Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: S177R

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
AA Change: S177R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: S177R

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,100,896 (GRCm39)	R423K	probably benign	Het
Acot7	T	C	4: 152,307,575 (GRCm39)	S170P	probably damaging	Het
Arhgap40	A	G	2: 158,380,620 (GRCm39)	Q341R	probably benign	Het
Arhgef28	T	C	13: 98,082,189 (GRCm39)	E1206G	possibly damaging	Het
Arpp21	T	A	9: 112,008,133 (GRCm39)	K122N	probably damaging	Het
Arsi	T	C	18: 61,049,726 (GRCm39)	L203P	possibly damaging	Het
C1rb	A	T	6: 124,557,488 (GRCm39)	I542F	probably benign	Het
Cadm3	C	A	1: 173,171,956 (GRCm39)	V206L	probably benign	Het
Card11	T	C	5: 140,885,419 (GRCm39)	D380G	probably damaging	Het
Ccdc42	A	T	11: 68,488,534 (GRCm39)	Q164L	probably benign	Het
Ccnd1	A	G	7: 144,491,622 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,871,578 (GRCm39)	D98G	probably damaging	Het
Chrd	A	G	16: 20,554,155 (GRCm39)	T336A	probably benign	Het
Clca3a2	C	A	3: 144,790,726 (GRCm39)	A449S	probably benign	Het
Dnah7a	A	G	1: 53,657,245 (GRCm39)	F844L	probably benign	Het
Fbxo11	T	A	17: 88,308,245 (GRCm39)	I480F		Het
Fcrl5	A	G	3: 87,350,930 (GRCm39)	T147A	probably benign	Het
Gm15130	T	A	2: 110,969,320 (GRCm39)	I133F		Het
Gpr155	C	T	2: 73,212,329 (GRCm39)	W98*	probably null	Het
Hspa4	A	G	11: 53,162,863 (GRCm39)	S408P	probably damaging	Het
Il12rb2	G	A	6: 67,333,635 (GRCm39)	R215C	possibly damaging	Het
Itga5	T	A	15: 103,265,741 (GRCm39)		probably null	Het
Kcnip3	T	A	2: 127,323,703 (GRCm39)		probably null	Het
Krt12	A	G	11: 99,309,309 (GRCm39)		probably null	Het
Minpp1	T	G	19: 32,468,803 (GRCm39)	F229V	probably damaging	Het
Muc2	G	A	7: 141,282,543 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,676,735 (GRCm39)	T906A	probably benign	Het
Myh13	A	G	11: 67,218,056 (GRCm39)	D43G	probably benign	Het
Nacad	C	T	11: 6,549,071 (GRCm39)	D1327N	probably benign	Het
Nbeal1	A	T	1: 60,331,048 (GRCm39)	Y2219F	probably damaging	Het
Nckap5	A	G	1: 125,953,163 (GRCm39)	S1130P	probably benign	Het
Pfkfb3	T	C	2: 11,486,719 (GRCm39)	N415S	probably benign	Het
Plxdc2	A	G	2: 16,665,678 (GRCm39)	I293V	possibly damaging	Het
Prpf38a	A	T	4: 108,436,277 (GRCm39)	I12N	probably damaging	Het
Ptprt	C	T	2: 161,372,413 (GRCm39)	V1420M	probably damaging	Het
Qars1	A	G	9: 108,386,670 (GRCm39)	D161G	probably damaging	Het
Scaf8	T	A	17: 3,247,549 (GRCm39)	D957E	probably damaging	Het
Scn7a	T	C	2: 66,506,689 (GRCm39)	Y1400C	probably damaging	Het
Sis	T	C	3: 72,832,801 (GRCm39)	I999V	probably benign	Het
Sorcs2	A	T	5: 36,181,958 (GRCm39)	L1054H	probably damaging	Het
Sptbn1	C	T	11: 30,088,455 (GRCm39)	A906T	probably damaging	Het
Srd5a2	A	G	17: 74,331,541 (GRCm39)	F152S	probably benign	Het
Stkld1	T	A	2: 26,835,888 (GRCm39)	L241*	probably null	Het
Strip2	A	T	6: 29,923,912 (GRCm39)		probably null	Het
Tcaf1	A	C	6: 42,650,363 (GRCm39)	Y905*	probably null	Het
Tet2	T	C	3: 133,179,404 (GRCm39)	I1254V	probably benign	Het
Tiam2	A	T	17: 3,487,522 (GRCm39)	N681I	probably damaging	Het
Trappc6a	A	G	7: 19,248,124 (GRCm39)		probably null	Het
Trav12-2	A	T	14: 53,854,223 (GRCm39)	K66*	probably null	Het
Ttn	T	A	2: 76,597,841 (GRCm39)	I19691F	probably damaging	Het
Tubgcp5	A	T	7: 55,450,444 (GRCm39)	Q185L	possibly damaging	Het
Vmn1r44	A	T	6: 89,869,192 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,628,820 (GRCm39)	D2717G	possibly damaging	Het
Vps13d	A	T	4: 144,904,633 (GRCm39)	Y133*	probably null	Het
Zer1	T	C	2: 30,000,385 (GRCm39)	D265G	probably damaging	Het
Zfp710	A	G	7: 79,730,859 (GRCm39)	D12G	possibly damaging	Het
Zfp819	T	C	7: 43,266,191 (GRCm39)	S225P	probably benign	Het

Other mutations in Marchf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02029:Marchf3	APN	18	56,940,753 (GRCm39)	missense	probably benign	0.24
R0625:Marchf3	UTSW	18	56,944,902 (GRCm39)	critical splice donor site	probably null
R0990:Marchf3	UTSW	18	56,940,870 (GRCm39)	missense	probably damaging	1.00
R1353:Marchf3	UTSW	18	56,909,177 (GRCm39)	splice site	probably null
R1653:Marchf3	UTSW	18	56,944,967 (GRCm39)	missense	probably benign	0.00
R2072:Marchf3	UTSW	18	56,944,925 (GRCm39)	missense	possibly damaging	0.88
R4746:Marchf3	UTSW	18	56,909,144 (GRCm39)	missense	probably damaging	1.00
R4771:Marchf3	UTSW	18	56,916,170 (GRCm39)	missense	probably benign	0.19
R6956:Marchf3	UTSW	18	56,909,053 (GRCm39)	missense	probably benign	0.01
R7152:Marchf3	UTSW	18	56,909,053 (GRCm39)	missense	probably benign	0.01
R7202:Marchf3	UTSW	18	56,909,161 (GRCm39)	missense	probably benign	0.02
R7272:Marchf3	UTSW	18	56,895,593 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGGTCTGTTGTCAACTGGG -3'
(R):5'- AGGCAGCTTGAGACTAGTGTG -3'

Sequencing Primer
(F):5'- GCAGGTGAGAGGGACTGC -3'
(R):5'- AGCTTGAGACTAGTGTGTCCCC -3'

Posted On

2019-11-26