Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02029:Marchf3'

184305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marchf3

Ensembl Gene

ENSMUSG00000032656

Gene Name

membrane associated ring-CH-type finger 3

Synonyms

March3, A530081L18Rik, 6330411I15Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02029

Quality Score

Status

Chromosome

Chromosomal Location

56894788-57058587 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56940753 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 126 (P126S)

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: P126S

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000047946
Gene: ENSMUSG00000032656
AA Change: P126S

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: P126S

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099976
Gene: ENSMUSG00000032656
AA Change: P126S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153044

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	C	10: 126,916,152 (GRCm39)	V221A	unknown	Het
Akr1c13	T	A	13: 4,255,361 (GRCm39)	Y317*	probably null	Het
Bicd2	T	A	13: 49,522,975 (GRCm39)	I30N	probably damaging	Het
Cadm2	G	T	16: 66,544,182 (GRCm39)	N291K	probably damaging	Het
Ccdc61	C	T	7: 18,637,423 (GRCm39)	C68Y	probably damaging	Het
Ccnl2	A	G	4: 155,906,319 (GRCm39)	S351G	probably benign	Het
Cdcp1	A	G	9: 123,012,899 (GRCm39)		probably benign	Het
Clhc1	T	C	11: 29,510,798 (GRCm39)	S256P	probably benign	Het
Fam83h	T	C	15: 75,878,287 (GRCm39)	E37G	probably damaging	Het
Fancd2	C	T	6: 113,547,936 (GRCm39)	L938F	probably benign	Het
Fbn2	G	T	18: 58,342,675 (GRCm39)	A68E	probably benign	Het
Fcrl1	T	A	3: 87,283,794 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,290,338 (GRCm39)	T892A	probably benign	Het
Gramd1a	C	T	7: 30,832,249 (GRCm39)	R596H	possibly damaging	Het
Limk1	A	T	5: 134,686,808 (GRCm39)	Y518*	probably null	Het
Map1a	A	G	2: 121,133,779 (GRCm39)	T1294A	possibly damaging	Het
Ntn5	A	G	7: 45,336,015 (GRCm39)	I149V	probably benign	Het
Nup43	T	C	10: 7,543,347 (GRCm39)	F8L	possibly damaging	Het
Or5b122	A	T	19: 13,563,468 (GRCm39)	M267L	probably benign	Het
Or5be3	A	G	2: 86,864,245 (GRCm39)	F107L	probably benign	Het
P2rx6	C	T	16: 17,385,959 (GRCm39)	S236F	probably benign	Het
Peg10	G	T	6: 4,754,473 (GRCm39)		probably benign	Het
Runx2	T	A	17: 44,969,574 (GRCm39)	R238*	probably null	Het
Serpinb9d	A	T	13: 33,380,512 (GRCm39)	I133L	possibly damaging	Het
Snph	A	G	2: 151,435,527 (GRCm39)	V434A	probably damaging	Het
Trp53rkb	C	A	2: 166,637,314 (GRCm39)	P90Q	probably damaging	Het
Ttn	C	A	2: 76,580,148 (GRCm39)	E21836*	probably null	Het
Tut7	A	G	13: 59,932,702 (GRCm39)		probably benign	Het
Ube3c	T	A	5: 29,824,326 (GRCm39)	F507I	probably damaging	Het
Ugt1a6a	T	C	1: 88,066,403 (GRCm39)	S70P	probably benign	Het
Zfp354b	C	T	11: 50,814,664 (GRCm39)	C87Y	probably benign	Het
Zfp462	G	T	4: 55,079,395 (GRCm39)		probably benign	Het

Other mutations in Marchf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7813:Marchf3	UTSW	18	56,916,163 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07