Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01134:Vps41'

52601

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps41

Ensembl Gene

ENSMUSG00000041236

Gene Name

VPS41 HOPS complex subunit

Synonyms

Vam2, mVam2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01134

Quality Score

Status

Chromosome

Chromosomal Location

18717286-18866811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18866150 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 838 (S838G)

Ref Sequence

ENSEMBL: ENSMUSP00000072729 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072961]

Predicted Effect

probably benign
Transcript: ENSMUST00000072961
AA Change: S838G

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000072729
Gene: ENSMUSG00000041236
AA Change: S838G

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Blast:WD40	34	70	2e-7	BLAST
SCOP:d1flga_	44	253	6e-9	SMART
Blast:WD40	159	195	3e-11	BLAST
CLH	570	711	1.92e-42	SMART
RING	790	837	8.98e-2	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human ortholog of yeast Vps41 protein which is also conserved in Drosophila, tomato, and Arabidopsis. Expression studies in yeast and human indicate that this protein may be involved in the formation and fusion of transport vesicles from the Golgi. Several transcript variants encoding different isoforms have been described for this gene, however, the full-length nature of not all is known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die by E9 exhibiting morphological and functional alteration of late endocytic compartments, and abnormal triploblastic development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Acaca	T	G	11: 84,251,279	H637Q	probably benign	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap6	C	A	12: 52,937,217	A848E	probably damaging	Het
Cxxc4	A	G	3: 134,240,659	I334V	probably null	Het
Cyp2b13	T	A	7: 26,081,700	I179N	probably damaging	Het
Cyp2d40	C	A	15: 82,760,901	A183S	unknown	Het
Cyp2g1	A	G	7: 26,809,831	N110S	probably benign	Het
F5	A	T	1: 164,191,979	R674S	possibly damaging	Het
Fnip2	G	T	3: 79,512,503	Y155*	probably null	Het
Fut9	G	T	4: 25,620,446	Q123K	probably benign	Het
Gda	A	G	19: 21,417,065	S143P	probably damaging	Het
Gpr162	T	C	6: 124,858,857		probably null	Het
Hsf2bp	A	G	17: 31,987,404	L251S	probably damaging	Het
Hsh2d	A	T	8: 72,193,531	D24V	probably damaging	Het
Htr1f	T	A	16: 64,926,138	T264S	probably benign	Het
Med12l	G	A	3: 59,042,275	E151K	possibly damaging	Het
Mgat3	C	A	15: 80,212,176	N401K	probably benign	Het
Mmp27	T	G	9: 7,573,297	M130R	probably benign	Het
Mroh2b	T	A	15: 4,915,152	S412T	probably benign	Het
Mrps9	A	G	1: 42,903,397	I338M	probably damaging	Het
Mtmr4	C	T	11: 87,604,067	T395M	probably damaging	Het
Nlrp9b	A	G	7: 20,023,187	I116M	probably benign	Het
Nqo1	T	C	8: 107,388,955	D230G	probably benign	Het
Pcnx2	C	T	8: 125,863,150	V795I	probably benign	Het
Pde8a	G	A	7: 81,319,078	R449Q	possibly damaging	Het
Scn9a	A	G	2: 66,504,968	Y1226H	probably damaging	Het
Sema3e	A	G	5: 14,252,770	R770G	probably damaging	Het
Smr2	T	C	5: 88,108,519	S19P	probably damaging	Het
Trank1	T	C	9: 111,391,781	S2529P	probably benign	Het
Uspl1	T	A	5: 149,204,293	F367L	probably damaging	Het
Ythdf2	A	T	4: 132,205,478	F124I	probably damaging	Het

Other mutations in Vps41

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Vps41	APN	13	18782727	splice site	probably benign
IGL01880:Vps41	APN	13	18810471	missense	probably benign	0.01
IGL02024:Vps41	APN	13	18791657	splice site	probably benign
IGL02458:Vps41	APN	13	18853479	missense	possibly damaging	0.67
IGL02740:Vps41	APN	13	18838680	missense	probably damaging	1.00
IGL03218:Vps41	APN	13	18829270	missense	possibly damaging	0.74
R0197:Vps41	UTSW	13	18854663	critical splice donor site	probably null
R0284:Vps41	UTSW	13	18853440	missense	probably damaging	1.00
R0321:Vps41	UTSW	13	18842295	splice site	probably benign
R0372:Vps41	UTSW	13	18842247	missense	probably benign	0.00
R0382:Vps41	UTSW	13	18827727	missense	probably benign	0.30
R1691:Vps41	UTSW	13	18841243	missense	probably damaging	1.00
R2055:Vps41	UTSW	13	18854616	missense	possibly damaging	0.95
R2082:Vps41	UTSW	13	18852351	missense	probably benign	0.27
R2147:Vps41	UTSW	13	18839734	splice site	probably null
R2897:Vps41	UTSW	13	18810428	splice site	probably benign
R4322:Vps41	UTSW	13	18823790	missense	probably damaging	1.00
R4600:Vps41	UTSW	13	18745283	missense	probably damaging	0.97
R4751:Vps41	UTSW	13	18811622	missense	probably damaging	0.98
R4856:Vps41	UTSW	13	18829255	missense	probably damaging	0.98
R5389:Vps41	UTSW	13	18862538	missense	probably damaging	0.99
R7022:Vps41	UTSW	13	18842268	missense	possibly damaging	0.76
R7456:Vps41	UTSW	13	18864034	missense	probably benign	0.02
R7747:Vps41	UTSW	13	18841252	critical splice donor site	probably null
R7790:Vps41	UTSW	13	18842268	missense	possibly damaging	0.76

Posted On

2013-06-21