Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Vps45'

299959

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 #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

95907144-95965778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95938354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 486 (L486P)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

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

AlphaFold

P97390

Predicted Effect

probably benign
Transcript: ENSMUST00000015891
AA Change: L486P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: L486P

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	probably benign	Het
Zfp990	A	T	4: 145,263,533 (GRCm39)	N177I	possibly 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
IGL02143:Vps45	APN	3	95,941,133 (GRCm39)	missense	probably benign
IGL02247:Vps45	APN	3	95,950,236 (GRCm39)	missense	probably damaging	1.00
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