Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02143:Vps45'

281679

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vps45

Ensembl Gene

ENSMUSG00000015747

Gene Name

vacuolar protein sorting 45

Synonyms

mVps45

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.880) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

95999832-96058466 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 96033821 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 369 (N369K)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015891]

Predicted Effect

probably benign
Transcript: ENSMUST00000015891
AA Change: N369K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: N369K

Domain	Start	End	E-Value	Type
Pfam:Sec1	23	546	3e-119	PFAM

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 is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	C	A	19: 58,789,252	R34L	possibly damaging	Het
Abhd5	T	C	9: 122,365,213	M1T	probably null	Het
Ager	G	A	17: 34,599,118	G183E	probably damaging	Het
Alcam	C	A	16: 52,305,619	V112L	probably damaging	Het
Amot	T	A	X: 145,487,028	Q204H	probably damaging	Het
Ankar	C	T	1: 72,658,649		probably null	Het
Armc9	A	G	1: 86,176,865	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,209,929	T218I	probably benign	Het
Cacna1f	A	C	X: 7,613,995		probably benign	Het
Cacna2d2	T	C	9: 107,518,275		probably null	Het
Ccdc57	A	T	11: 120,861,243	C837*	probably null	Het
Ctbp2	G	A	7: 132,991,156	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,448,526		probably null	Het
Dis3	T	C	14: 99,091,318		probably benign	Het
Disp2	T	C	2: 118,789,969	F394S	probably damaging	Het
Dnah1	T	C	14: 31,283,289	N2336S	probably damaging	Het
Drap1	C	A	19: 5,423,843	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,793,739	R109C	probably benign	Het
Enpp1	A	T	10: 24,677,974	D105E	probably damaging	Het
Evi5l	G	A	8: 4,191,293	M275I	probably damaging	Het
Flt1	T	C	5: 147,578,436	T1059A	probably benign	Het
Fndc3c1	T	C	X: 106,472,734		probably benign	Het
Git1	T	C	11: 77,505,987	V645A	possibly damaging	Het
Gm7735	T	A	16: 89,169,549	C20*	probably null	Het
Ighv1-42	G	T	12: 114,937,286	P60T	probably benign	Het
Jakmip2	A	T	18: 43,563,285	L533Q	probably damaging	Het
Kdm2b	C	T	5: 122,947,835	E238K	probably damaging	Het
Lpin2	T	C	17: 71,243,926	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,547,255	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400	S174T	probably benign	Het
Neb	T	C	2: 52,291,199	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,511,635	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,791,653		probably null	Het
Obp1a	A	C	X: 78,090,843	M18R	possibly damaging	Het
Olfr525	A	T	7: 140,323,592	K298*	probably null	Het
Olfr695	T	C	7: 106,873,973	T91A	probably benign	Het
Pabpc5	T	A	X: 119,927,991	M1K	probably null	Het
Paxip1	A	G	5: 27,775,598		probably benign	Het
Perm1	A	G	4: 156,218,043	E348G	probably benign	Het
Pfkfb1	T	C	X: 150,622,142	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,698,526	M461V	probably benign	Het
Ppfia2	G	A	10: 106,857,499	D622N	probably damaging	Het
Prtg	T	G	9: 72,892,324	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404		probably benign	Het
Rasal1	A	G	5: 120,652,852	D35G	probably damaging	Het
Repin1	T	A	6: 48,597,121	L272Q	probably damaging	Het
Stk36	T	C	1: 74,616,569		probably benign	Het
Tbxa2r	A	G	10: 81,334,486	T269A	probably benign	Het
Tmem132c	G	A	5: 127,563,402	R879Q	probably benign	Het
Vmn1r78	C	A	7: 12,152,480	A6E	probably benign	Het
Zkscan16	G	A	4: 58,956,911	G398R	probably damaging	Het

Other mutations in Vps45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Vps45	APN	3	96000066	makesense	probably null
IGL00848:Vps45	APN	3	96056973	splice site	probably benign
IGL00915:Vps45	APN	3	96046350	critical splice donor site	probably null
IGL02143:Vps45	APN	3	96019646	missense	probably benign	0.00
IGL02247:Vps45	APN	3	96042924	missense	probably damaging	1.00
IGL02598:Vps45	APN	3	96031042	missense	probably benign	0.03
IGL03409:Vps45	APN	3	96053089	missense	probably benign	0.00
R0943:Vps45	UTSW	3	96057024	missense	probably benign	0.02
R1102:Vps45	UTSW	3	96042941	splice site	probably benign
R1540:Vps45	UTSW	3	96048346	missense	probably damaging	1.00
R1829:Vps45	UTSW	3	96047245	critical splice donor site	probably null
R1919:Vps45	UTSW	3	96046440	missense	probably benign	0.00
R2113:Vps45	UTSW	3	96047053	missense	probably benign	0.05
R2251:Vps45	UTSW	3	96057040	missense	probably benign	0.00
R2511:Vps45	UTSW	3	96041445	missense	probably benign	0.01
R4752:Vps45	UTSW	3	96048387	missense	possibly damaging	0.88
R4806:Vps45	UTSW	3	96046413	missense	probably benign	0.01
R4914:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R4915:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R4917:Vps45	UTSW	3	96019631	missense	probably damaging	0.98
R5180:Vps45	UTSW	3	96046371	missense	possibly damaging	0.94
R5288:Vps45	UTSW	3	96057774	start codon destroyed	probably null	1.00
R5454:Vps45	UTSW	3	96019657	missense	probably benign	0.21
R6397:Vps45	UTSW	3	96042852	missense	probably benign	0.13

Posted On

2015-04-16