Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

95907144-95965778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95941133 bp (GRCm39)

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]

AlphaFold

P97390

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
Abhd5	T	C	9: 122,194,278 (GRCm39)	M1T	probably null	Het
Ager	G	A	17: 34,818,092 (GRCm39)	G183E	probably damaging	Het
Alcam	C	A	16: 52,125,982 (GRCm39)	V112L	probably damaging	Het
Amot	T	A	X: 144,270,024 (GRCm39)	Q204H	probably damaging	Het
Ankar	C	T	1: 72,697,808 (GRCm39)		probably null	Het
Armc9	A	G	1: 86,104,587 (GRCm39)	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,051,849 (GRCm39)	T218I	probably benign	Het
Cacna1f	A	C	X: 7,480,234 (GRCm39)		probably benign	Het
Cacna2d2	T	C	9: 107,395,474 (GRCm39)		probably null	Het
Ccdc57	A	T	11: 120,752,069 (GRCm39)	C837*	probably null	Het
Ctbp2	G	A	7: 132,592,885 (GRCm39)	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,268,889 (GRCm39)		probably null	Het
Dis3	T	C	14: 99,328,754 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,620,450 (GRCm39)	F394S	probably damaging	Het
Dnah1	T	C	14: 31,005,246 (GRCm39)	N2336S	probably damaging	Het
Drap1	C	A	19: 5,473,871 (GRCm39)	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,847,888 (GRCm39)	R109C	probably benign	Het
Enpp1	A	T	10: 24,553,872 (GRCm39)	D105E	probably damaging	Het
Evi5l	G	A	8: 4,241,293 (GRCm39)	M275I	probably damaging	Het
Flt1	T	C	5: 147,515,246 (GRCm39)	T1059A	probably benign	Het
Fndc3c1	T	C	X: 105,516,340 (GRCm39)		probably benign	Het
Git1	T	C	11: 77,396,813 (GRCm39)	V645A	possibly damaging	Het
Gm7735	T	A	16: 88,966,437 (GRCm39)	C20*	probably null	Het
Ighv1-42	G	T	12: 114,900,906 (GRCm39)	P60T	probably benign	Het
Jakmip2	A	T	18: 43,696,350 (GRCm39)	L533Q	probably damaging	Het
Kdm2b	C	T	5: 123,085,898 (GRCm39)	E238K	probably damaging	Het
Lpin2	T	C	17: 71,550,921 (GRCm39)	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,454,562 (GRCm39)	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400 (GRCm39)	S174T	probably benign	Het
Neb	T	C	2: 52,181,211 (GRCm39)	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,387,383 (GRCm39)	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,948,996 (GRCm39)		probably null	Het
Obp1a	A	C	X: 77,134,449 (GRCm39)	M18R	possibly damaging	Het
Or13a19	A	T	7: 139,903,505 (GRCm39)	K298*	probably null	Het
Or2ag13	T	C	7: 106,473,180 (GRCm39)	T91A	probably benign	Het
Pabpc5	T	A	X: 118,837,688 (GRCm39)	M1K	probably null	Het
Paxip1	A	G	5: 27,980,596 (GRCm39)		probably benign	Het
Perm1	A	G	4: 156,302,500 (GRCm39)	E348G	probably benign	Het
Pfkfb1	T	C	X: 149,405,138 (GRCm39)	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,737,686 (GRCm39)	M461V	probably benign	Het
Ppfia2	G	A	10: 106,693,360 (GRCm39)	D622N	probably damaging	Het
Prtg	T	G	9: 72,799,606 (GRCm39)	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,790,917 (GRCm39)	D35G	probably damaging	Het
Repin1	T	A	6: 48,574,055 (GRCm39)	L272Q	probably damaging	Het
Spmip5	C	A	19: 58,777,684 (GRCm39)	R34L	possibly damaging	Het
Stk36	T	C	1: 74,655,728 (GRCm39)		probably benign	Het
Tbxa2r	A	G	10: 81,170,320 (GRCm39)	T269A	probably benign	Het
Tmem132c	G	A	5: 127,640,466 (GRCm39)	R879Q	probably benign	Het
Vmn1r78	C	A	7: 11,886,407 (GRCm39)	A6E	probably benign	Het
Zkscan16	G	A	4: 58,956,911 (GRCm39)	G398R	probably damaging	Het

Other mutations in Vps45

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Vps45	APN	3	95,907,378 (GRCm39)	makesense	probably null
IGL00848:Vps45	APN	3	95,964,285 (GRCm39)	splice site	probably benign
IGL00915:Vps45	APN	3	95,953,662 (GRCm39)	critical splice donor site	probably null
IGL02143:Vps45	APN	3	95,926,958 (GRCm39)	missense	probably benign	0.00
IGL02247:Vps45	APN	3	95,950,236 (GRCm39)	missense	probably damaging	1.00
IGL02598:Vps45	APN	3	95,938,354 (GRCm39)	missense	probably benign	0.03
IGL03409:Vps45	APN	3	95,960,401 (GRCm39)	missense	probably benign	0.00
R0943:Vps45	UTSW	3	95,964,336 (GRCm39)	missense	probably benign	0.02
R1102:Vps45	UTSW	3	95,950,253 (GRCm39)	splice site	probably benign
R1540:Vps45	UTSW	3	95,955,658 (GRCm39)	missense	probably damaging	1.00
R1829:Vps45	UTSW	3	95,954,557 (GRCm39)	critical splice donor site	probably null
R1919:Vps45	UTSW	3	95,953,752 (GRCm39)	missense	probably benign	0.00
R2113:Vps45	UTSW	3	95,954,365 (GRCm39)	missense	probably benign	0.05
R2251:Vps45	UTSW	3	95,964,352 (GRCm39)	missense	probably benign	0.00
R2511:Vps45	UTSW	3	95,948,757 (GRCm39)	missense	probably benign	0.01
R4752:Vps45	UTSW	3	95,955,699 (GRCm39)	missense	possibly damaging	0.88
R4806:Vps45	UTSW	3	95,953,725 (GRCm39)	missense	probably benign	0.01
R4914:Vps45	UTSW	3	95,926,943 (GRCm39)	missense	probably damaging	0.98
R4915:Vps45	UTSW	3	95,926,943 (GRCm39)	missense	probably damaging	0.98
R4917:Vps45	UTSW	3	95,926,943 (GRCm39)	missense	probably damaging	0.98
R5180:Vps45	UTSW	3	95,953,683 (GRCm39)	missense	possibly damaging	0.94
R5288:Vps45	UTSW	3	95,965,086 (GRCm39)	start codon destroyed	probably null	1.00
R5454:Vps45	UTSW	3	95,926,969 (GRCm39)	missense	probably benign	0.21
R6397:Vps45	UTSW	3	95,950,164 (GRCm39)	missense	probably benign	0.13
R7247:Vps45	UTSW	3	95,948,717 (GRCm39)	missense	probably benign	0.02
R7449:Vps45	UTSW	3	95,954,448 (GRCm39)	critical splice acceptor site	probably null
R7460:Vps45	UTSW	3	95,955,699 (GRCm39)	missense	probably benign	0.00
R7795:Vps45	UTSW	3	95,926,936 (GRCm39)	missense	probably benign	0.13
R8462:Vps45	UTSW	3	95,941,091 (GRCm39)	missense	possibly damaging	0.62
R8490:Vps45	UTSW	3	95,948,661 (GRCm39)	missense	probably benign
R9076:Vps45	UTSW	3	95,960,345 (GRCm39)	splice site	probably benign
R9081:Vps45	UTSW	3	95,940,125 (GRCm39)	missense	probably benign	0.24
R9358:Vps45	UTSW	3	95,940,976 (GRCm39)	critical splice donor site	probably null
R9475:Vps45	UTSW	3	95,950,237 (GRCm39)	missense	probably damaging	1.00
R9608:Vps45	UTSW	3	95,940,982 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16