Mutagenetix > Incidental Mutation

Incidental Mutation 'R5180:Vps45'

399692

Institutional Source

Beutler Lab

Gene Symbol

Vps45

Ensembl Gene

ENSMUSG00000015747

Gene Name

vacuolar protein sorting 45

Synonyms

mVps45

MMRRC Submission

042760-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R5180 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95907144-95965778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95953683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 223 (I223T)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

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

AlphaFold

P97390

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015891
AA Change: I223T

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: I223T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131281

Meta Mutation Damage Score

0.3596

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (60/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,416,510 (GRCm39)	T4091A	probably benign	Het
Adgrv1	G	A	13: 81,431,535 (GRCm39)		probably benign	Het
Ago3	C	T	4: 126,261,544 (GRCm39)	V435I	probably benign	Het
Akap10	C	T	11: 61,807,015 (GRCm39)	A72T	probably damaging	Het
Ampd2	G	T	3: 107,986,358 (GRCm39)	Q273K	probably benign	Het
Ankrd35	C	A	3: 96,587,789 (GRCm39)	H109Q	probably damaging	Het
Atpaf2	A	G	11: 60,296,695 (GRCm39)	L153S	possibly damaging	Het
C1qtnf7	G	A	5: 43,773,156 (GRCm39)	V152M	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cep295	C	T	9: 15,243,416 (GRCm39)	C1680Y	probably benign	Het
Cyp4f15	A	T	17: 32,909,714 (GRCm39)	I104F	probably benign	Het
Daam1	A	G	12: 71,993,899 (GRCm39)	N434S	unknown	Het
Dab2ip	C	T	2: 35,610,503 (GRCm39)	P782L	possibly damaging	Het
Dhx34	C	A	7: 15,939,405 (GRCm39)	G663*	probably null	Het
Dnah7a	T	C	1: 53,462,446 (GRCm39)	D3715G	probably damaging	Het
Dnajc11	C	T	4: 152,054,396 (GRCm39)	R201C	probably damaging	Het
Erf	A	T	7: 24,945,690 (GRCm39)	I27N	probably damaging	Het
Fbxl7	T	A	15: 26,543,507 (GRCm39)	Y380F	probably damaging	Het
Gm3336	A	G	8: 71,173,110 (GRCm39)		probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm5134	T	C	10: 75,812,200 (GRCm39)	Y152H	probably damaging	Het
Gm6899	A	G	11: 26,543,795 (GRCm39)		probably benign	Het
Gna11	T	C	10: 81,380,707 (GRCm39)	K19E	probably benign	Het
Gpr15	C	A	16: 58,538,248 (GRCm39)	L280F	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Ino80d	C	A	1: 63,125,488 (GRCm39)		probably benign	Het
Irak3	T	G	10: 119,981,687 (GRCm39)	K406T	probably damaging	Het
Kif15	G	A	9: 122,828,275 (GRCm39)	C634Y	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Macrod2	A	T	2: 140,237,636 (GRCm39)	E14V	probably damaging	Het
Matn3	T	A	12: 9,005,374 (GRCm39)	D261E	probably benign	Het
Mdga1	A	T	17: 30,076,710 (GRCm39)		probably benign	Het
Natd1	G	T	11: 60,804,482 (GRCm39)	R24S	probably benign	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Or5b101	A	T	19: 13,004,776 (GRCm39)	S306T	probably benign	Het
Parp9	T	A	16: 35,774,106 (GRCm39)	Y81*	probably null	Het
Pde4d	A	G	13: 109,877,007 (GRCm39)	N73S	probably benign	Het
Pigb	A	T	9: 72,941,872 (GRCm39)	I129N	probably damaging	Het
Plxnb1	C	A	9: 108,940,761 (GRCm39)		probably null	Het
Ppfibp1	G	T	6: 146,928,819 (GRCm39)	R813L	probably damaging	Het
Ramp3	T	A	11: 6,608,619 (GRCm39)	L16Q	unknown	Het
Slc35a4	T	C	18: 36,815,688 (GRCm39)	S173P	probably benign	Het
Slc41a1	T	C	1: 131,772,115 (GRCm39)	V415A	probably damaging	Het
Smarcc2	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	10: 128,323,231 (GRCm39)		probably benign	Het
Snph	G	A	2: 151,442,307 (GRCm39)	R43W	probably benign	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Supt20	C	A	3: 54,616,506 (GRCm39)	H254Q	probably benign	Het
Taar7a	A	G	10: 23,869,046 (GRCm39)	C112R	probably damaging	Het
Tbc1d4	T	C	14: 101,745,008 (GRCm39)	Y206C	probably damaging	Het
Tecta	A	G	9: 42,248,504 (GRCm39)	V1961A	probably damaging	Het
Tgfbr1	T	A	4: 47,383,948 (GRCm39)	Y30*	probably null	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tnfrsf1b	C	A	4: 144,954,067 (GRCm39)	C94F	probably damaging	Het
Ttn	A	G	2: 76,579,740 (GRCm39)	Y23718H	probably damaging	Het
Ube2i	T	C	17: 25,484,268 (GRCm39)		probably benign	Het
Vmn2r16	G	T	5: 109,478,391 (GRCm39)	V49F	probably benign	Het
Zfp955a	T	C	17: 33,461,592 (GRCm39)	Y180C	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	Het
Zscan18	T	A	7: 12,509,216 (GRCm39)		probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTGCCTTGATGACAGAGG -3'
(R):5'- TTTTACAGGAGGCCCATGC -3'

Sequencing Primer
(F):5'- CTGCCTTGATGACAGAGGGACAG -3'
(R):5'- CCATGCGGGAGGGAAAACTG -3'

Posted On

2016-07-06