Mutagenetix > Incidental Mutation

Incidental Mutation 'R9081:Vps45'

690001

Institutional Source

Beutler Lab

Gene Symbol

Vps45

Ensembl Gene

ENSMUSG00000015747

Gene Name

vacuolar protein sorting 45

Synonyms

mVps45

MMRRC Submission

068900-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R9081 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95907144-95965778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95940125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 446 (V446E)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

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

AlphaFold

P97390

Predicted Effect

probably benign
Transcript: ENSMUST00000015891
AA Change: V446E

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: V446E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,502 (GRCm39)	V271E	probably damaging	Het
Abca1	A	G	4: 53,109,162 (GRCm39)		probably null	Het
Abcb11	C	T	2: 69,122,388 (GRCm39)	C365Y	possibly damaging	Het
Abcd2	A	T	15: 91,075,772 (GRCm39)	W14R	probably damaging	Het
Acmsd	A	G	1: 127,687,468 (GRCm39)	D250G	possibly damaging	Het
Ahnak	T	A	19: 8,985,890 (GRCm39)	D2391E	possibly damaging	Het
Apol11b	C	T	15: 77,524,771 (GRCm39)	E5K	possibly damaging	Het
Cbr1	G	T	16: 93,406,994 (GRCm39)	G237*	probably null	Het
Cdr2l	T	A	11: 115,284,939 (GRCm39)	V425E	probably damaging	Het
Chd9	A	T	8: 91,704,144 (GRCm39)	K693*	probably null	Het
Clgn	T	G	8: 84,153,169 (GRCm39)	D590E	probably damaging	Het
Col14a1	T	A	15: 55,291,387 (GRCm39)	S952T	unknown	Het
Crip3	T	C	17: 46,740,959 (GRCm39)	L90P	probably benign	Het
Dchs1	A	G	7: 105,403,636 (GRCm39)	S2969P	probably benign	Het
Dnai2	T	A	11: 114,629,493 (GRCm39)	D173E	probably damaging	Het
Dnpep	A	T	1: 75,291,060 (GRCm39)	F257Y	probably damaging	Het
Egln2	A	G	7: 26,864,286 (GRCm39)	V213A	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Eps8	A	G	6: 137,504,415 (GRCm39)	I106T	probably benign	Het
Evi5	A	G	5: 107,963,571 (GRCm39)	F379L	probably benign	Het
Fbxo31	G	A	8: 122,281,136 (GRCm39)	R337C	probably damaging	Het
Fpgs	A	T	2: 32,577,500 (GRCm39)		probably benign	Het
Garnl3	T	G	2: 32,896,920 (GRCm39)	D573A	possibly damaging	Het
Gja8	A	G	3: 96,826,676 (GRCm39)	S329P	probably damaging	Het
Gzf1	T	A	2: 148,525,317 (GRCm39)		probably benign	Het
Hgs	T	A	11: 120,366,076 (GRCm39)		probably benign	Het
Ifi203	A	G	1: 173,757,048 (GRCm39)	I245T	unknown	Het
Ighv1-74	C	A	12: 115,766,454 (GRCm39)	W55C	probably damaging	Het
Iqcb1	A	G	16: 36,656,006 (GRCm39)	K131R	probably null	Het
Kit	A	T	5: 75,801,218 (GRCm39)	M539L	probably benign	Het
Klk1	A	G	7: 43,874,952 (GRCm39)		probably benign	Het
Krt84	C	T	15: 101,440,814 (GRCm39)	G126D	unknown	Het
Lama5	A	T	2: 179,833,930 (GRCm39)	C1473*	probably null	Het
Loxl3	T	C	6: 83,025,638 (GRCm39)	V332A	possibly damaging	Het
Mcf2l	T	A	8: 13,068,697 (GRCm39)	Y1120N	probably damaging	Het
Meioc	G	A	11: 102,565,001 (GRCm39)	V150M	probably benign	Het
Mybpc1	T	G	10: 88,389,168 (GRCm39)	Y400S	probably damaging	Het
Ncmap	T	C	4: 135,104,292 (GRCm39)		probably benign	Het
Noc2l	A	G	4: 156,326,224 (GRCm39)	Y437C	probably damaging	Het
Nol8	A	T	13: 49,814,881 (GRCm39)	M330L	probably benign	Het
Or10d4c	A	T	9: 39,558,196 (GRCm39)	Y58F	probably damaging	Het
Or5b113	C	T	19: 13,342,019 (GRCm39)	T9I	probably benign	Het
P4ha1	T	C	10: 59,184,185 (GRCm39)	Y216H	probably damaging	Het
Pamr1	A	T	2: 102,441,933 (GRCm39)	D174V	probably damaging	Het
Pdcd1	C	T	1: 93,968,880 (GRCm39)		probably null	Het
Plec	A	G	15: 76,059,908 (GRCm39)	V3343A	probably damaging	Het
Pnliprp1	A	T	19: 58,723,406 (GRCm39)	I266F	probably benign	Het
Poglut2	T	A	1: 44,153,966 (GRCm39)	Q161L	probably benign	Het
Ppp1r12b	C	T	1: 134,705,085 (GRCm39)	V868I	probably benign	Het
Ppp2r2b	A	T	18: 42,781,825 (GRCm39)	H325Q	probably benign	Het
Rif1	C	T	2: 52,000,989 (GRCm39)	T1481I	probably damaging	Het
Rnf213	A	T	11: 119,357,062 (GRCm39)	D4204V		Het
Rps6kl1	T	C	12: 85,185,881 (GRCm39)	N409S	probably damaging	Het
Rundc1	T	G	11: 101,316,053 (GRCm39)	W42G	probably damaging	Het
Sec1	C	T	7: 45,333,987 (GRCm39)		probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Shc2	T	C	10: 79,462,762 (GRCm39)		probably null	Het
Slc19a1	T	C	10: 76,877,750 (GRCm39)	V95A	possibly damaging	Het
Slc22a5	A	T	11: 53,762,447 (GRCm39)	D333E	probably damaging	Het
Specc1	A	C	11: 62,010,051 (GRCm39)	R522S	possibly damaging	Het
Syne2	C	T	12: 76,016,290 (GRCm39)	Q3291*	probably null	Het
Taar7e	G	A	10: 23,913,893 (GRCm39)	V128I	probably benign	Het
Tdrd3	A	G	14: 87,743,717 (GRCm39)	N555S	probably benign	Het
Themis	C	T	10: 28,544,582 (GRCm39)		probably benign	Het
Tjp1	A	G	7: 64,964,010 (GRCm39)	V945A	possibly damaging	Het
Tom1	G	A	8: 75,778,151 (GRCm39)	V78I	probably damaging	Het
Usp13	A	G	3: 32,935,542 (GRCm39)	T323A	probably benign	Het
Usp49	T	C	17: 47,984,236 (GRCm39)	S414P	possibly damaging	Het
Vmn1r104	G	A	7: 20,268,378 (GRCm39)	S206N	probably damaging	Het
Wwc1	T	C	11: 35,782,331 (GRCm39)	K222R	probably benign	Het
Zc3h13	CAGAGACCGGGACAGAAGGAGAGAC	CAGAGAC	14: 75,569,381 (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
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
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'- CTGTGCACACTTCCTGGAAG -3'
(R):5'- TACAAGGTGCACAGTTCCG -3'

Sequencing Primer
(F):5'- TGACCCGTCACTGCATCAG -3'
(R):5'- AAGGTGCACAGTTCCGTCCTC -3'

Posted On

2021-11-19