Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Marchf11'

92455

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Marchf11

Ensembl Gene

ENSMUSG00000022269

Gene Name

membrane associated ring-CH-type finger 11

Synonyms

March11

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

26309134-26409662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26409285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 328 (I328T)

Ref Sequence

ENSEMBL: ENSMUSP00000118729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000140840] [ENSMUST00000152841]

AlphaFold

Q8CBH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140840
AA Change: I328T

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118729
Gene: ENSMUSG00000022269
AA Change: I328T

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
RINGv	167	214	4.81e-16	SMART
transmembrane domain	244	266	N/A	INTRINSIC
Blast:AAA	269	296	6e-7	BLAST
low complexity region	329	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152841

SMART Domains

Protein: ENSMUSP00000120622
Gene: ENSMUSG00000022269

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
low complexity region	73	83	N/A	INTRINSIC
low complexity region	143	165	N/A	INTRINSIC
RINGv	167	214	4.81e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155819

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MARCH11 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). These enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their intracellular transport. March11 appears to have a role in ubiquitin-mediated protein sorting in the trans-Golgi network (TGN)-multivesicular body (MVB) transport pathway (Morokuma et al., 2007 [PubMed 17604280]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,261,265 (GRCm39)	A74V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1a3	G	A	7: 66,058,978 (GRCm39)	T239I	probably damaging	Het
Anxa9	A	G	3: 95,207,847 (GRCm39)		probably null	Het
Atp5me	C	A	5: 108,581,899 (GRCm39)	K28N	probably damaging	Het
C9	T	G	15: 6,489,149 (GRCm39)	Y169D	probably benign	Het
Chat	T	A	14: 32,168,849 (GRCm39)		probably null	Het
Csmd3	C	T	15: 47,874,479 (GRCm39)	E706K	probably benign	Het
Ctbs	A	G	3: 146,160,867 (GRCm39)	K145E	probably benign	Het
Dennd5a	A	G	7: 109,533,302 (GRCm39)	M156T	probably damaging	Het
Dhx29	A	G	13: 113,101,756 (GRCm39)	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,295,596 (GRCm39)	F517Y	probably benign	Het
Dst	G	A	1: 34,227,990 (GRCm39)	W1536*	probably null	Het
Galc	T	C	12: 98,218,340 (GRCm39)	T171A	possibly damaging	Het
Gsap	T	C	5: 21,431,246 (GRCm39)	I190T	probably damaging	Het
Hars2	A	T	18: 36,922,630 (GRCm39)	R388*	probably null	Het
Igsf21	C	T	4: 139,834,675 (GRCm39)	G66S	possibly damaging	Het
Itgbl1	T	A	14: 124,065,211 (GRCm39)	S122T	possibly damaging	Het
Jhy	G	T	9: 40,872,260 (GRCm39)	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,795,525 (GRCm39)	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,802,119 (GRCm39)	I509N	probably damaging	Het
Lpar6	T	C	14: 73,476,506 (GRCm39)	S156P	probably damaging	Het
Man2c1	T	C	9: 57,048,840 (GRCm39)		probably benign	Het
Mc3r	T	A	2: 172,091,290 (GRCm39)	C171S	probably benign	Het
Muc4	A	T	16: 32,577,001 (GRCm39)	Q2167L	unknown	Het
Myom1	T	C	17: 71,406,988 (GRCm39)	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,702,555 (GRCm39)	R101*	probably null	Het
Nxpe4	T	C	9: 48,305,440 (GRCm39)	S277P	possibly damaging	Het
Or1e35	T	C	11: 73,798,303 (GRCm39)	N5S	probably damaging	Het
Or2a52	T	A	6: 43,144,637 (GRCm39)	V215E	probably damaging	Het
Or52r1c	G	A	7: 102,735,582 (GRCm39)	V281I	probably benign	Het
Or5b106	T	A	19: 13,123,614 (GRCm39)	K136N	probably benign	Het
Or5w19	A	C	2: 87,698,488 (GRCm39)	D51A	probably damaging	Het
Pappa2	G	T	1: 158,684,948 (GRCm39)	N730K	probably damaging	Het
Prepl	A	G	17: 85,373,709 (GRCm39)	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,368,529 (GRCm39)	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,637,176 (GRCm39)	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,571,746 (GRCm39)	M100K	probably benign	Het
Sema3c	A	G	5: 17,877,504 (GRCm39)	N204D	probably damaging	Het
Susd4	A	G	1: 182,686,026 (GRCm39)		probably null	Het
Taar7f	G	T	10: 23,926,239 (GRCm39)	A278S	possibly damaging	Het
Tle4	T	A	19: 14,522,178 (GRCm39)	M122L	probably benign	Het
Trim9	C	T	12: 70,295,125 (GRCm39)	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,150,345 (GRCm39)	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,285,521 (GRCm39)	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,794,247 (GRCm39)		probably benign	Het
Zng1	T	C	19: 24,918,140 (GRCm39)	E210G	possibly damaging	Het

Other mutations in Marchf11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03079:Marchf11	APN	15	26,311,144 (GRCm39)	missense	probably damaging	1.00
R0625:Marchf11	UTSW	15	26,311,129 (GRCm39)	missense	probably damaging	0.99
R1055:Marchf11	UTSW	15	26,309,748 (GRCm39)	missense	probably damaging	0.99
R1116:Marchf11	UTSW	15	26,409,381 (GRCm39)	missense	probably damaging	1.00
R1851:Marchf11	UTSW	15	26,387,916 (GRCm39)	missense	probably damaging	1.00
R3862:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R3863:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R3864:Marchf11	UTSW	15	26,387,952 (GRCm39)	missense	probably damaging	1.00
R4373:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4375:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4376:Marchf11	UTSW	15	26,309,532 (GRCm39)	missense	probably damaging	0.96
R4580:Marchf11	UTSW	15	26,311,189 (GRCm39)	missense	probably damaging	1.00
R6284:Marchf11	UTSW	15	26,409,432 (GRCm39)	missense	probably benign	0.36
R6710:Marchf11	UTSW	15	26,387,949 (GRCm39)	missense	probably damaging	1.00
R7490:Marchf11	UTSW	15	26,311,187 (GRCm39)	missense	possibly damaging	0.88
R7748:Marchf11	UTSW	15	26,387,916 (GRCm39)	missense	probably damaging	0.98
R7794:Marchf11	UTSW	15	26,409,284 (GRCm39)	missense	probably benign	0.09
R7937:Marchf11	UTSW	15	26,409,323 (GRCm39)	missense	probably damaging	0.99
R7942:Marchf11	UTSW	15	26,409,505 (GRCm39)	makesense	probably null
X0063:Marchf11	UTSW	15	26,387,979 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09