Mutagenetix > Incidental Mutation

Incidental Mutation 'R7460:Vps45'

578373

Institutional Source

Beutler Lab

Gene Symbol

Vps45

Ensembl Gene

ENSMUSG00000015747

Gene Name

vacuolar protein sorting 45

Synonyms

mVps45

MMRRC Submission

045534-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R7460 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95907144-95965778 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 95955699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 97 (Y97F)

Ref Sequence

ENSEMBL: ENSMUSP00000015891 (fasta)

Gene Model

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

AlphaFold

P97390

Predicted Effect

probably benign
Transcript: ENSMUST00000015891
AA Change: Y97F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000015891
Gene: ENSMUSG00000015747
AA Change: Y97F

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: 99.3%

Validation Efficiency

100% (64/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi2	T	A	1: 60,473,466 (GRCm39)	V61D	probably damaging	Het
Agrn	C	A	4: 156,258,881 (GRCm39)	V915L	probably damaging	Het
Arhgap24	T	C	5: 103,040,212 (GRCm39)	V476A	probably benign	Het
Arhgef15	A	G	11: 68,837,861 (GRCm39)	L720P	probably damaging	Het
Atad2b	C	A	12: 5,002,660 (GRCm39)	R343S	probably benign	Het
Atxn3	T	A	12: 101,892,776 (GRCm39)	T313S	probably benign	Het
BC051665	T	C	13: 60,932,457 (GRCm39)	E76G	probably benign	Het
Birc2	A	T	9: 7,818,762 (GRCm39)	F610I	probably damaging	Het
Cdh16	A	T	8: 105,348,923 (GRCm39)	V58D	possibly damaging	Het
Cenpf	T	C	1: 189,386,247 (GRCm39)	D2011G	probably damaging	Het
Ddb1	T	C	19: 10,585,275 (GRCm39)		probably null	Het
Ddx1	A	G	12: 13,281,440 (GRCm39)		probably null	Het
Disp2	A	G	2: 118,620,261 (GRCm39)	H331R	probably damaging	Het
Dmxl1	A	G	18: 50,011,679 (GRCm39)	T1279A	probably benign	Het
Dync1i2	T	C	2: 71,081,230 (GRCm39)	I473T	probably damaging	Het
Fam114a1	T	G	5: 65,196,050 (GRCm39)	V520G	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat2	T	A	11: 55,169,789 (GRCm39)	D2990V	probably damaging	Het
Fbh1	C	T	2: 11,761,496 (GRCm39)	G597D	probably benign	Het
Fdxr	A	C	11: 115,167,680 (GRCm39)	S12A	probably benign	Het
Fgf14	T	A	14: 124,914,105 (GRCm39)	R9W	possibly damaging	Het
Gnat3	A	T	5: 18,204,656 (GRCm39)	D103V		Het
Hepacam2	G	A	6: 3,487,199 (GRCm39)	P53S	probably benign	Het
Inhca	T	C	9: 103,131,847 (GRCm39)	N625D	probably benign	Het
Jmjd1c	A	G	10: 67,052,815 (GRCm39)	T21A	probably benign	Het
Lama1	T	C	17: 68,074,013 (GRCm39)	C930R		Het
Lrp1b	T	C	2: 40,488,478 (GRCm39)	T4536A		Het
Lrrc27	T	A	7: 138,803,574 (GRCm39)	V166E	probably damaging	Het
Mapk10	C	T	5: 103,186,443 (GRCm39)	V90I	probably benign	Het
Mfsd14b	C	T	13: 65,219,837 (GRCm39)	G339D	probably damaging	Het
Mnt	T	A	11: 74,734,109 (GRCm39)	M580K	unknown	Het
Mrc1	T	C	2: 14,253,680 (GRCm39)	S234P	probably damaging	Het
Mrps5	G	A	2: 127,433,811 (GRCm39)	V75I	not run	Het
Mrtfb	G	T	16: 13,218,840 (GRCm39)	Q495H	probably benign	Het
Myo10	A	G	15: 25,807,913 (GRCm39)	D1845G	probably damaging	Het
Or3a1c	A	T	11: 74,046,672 (GRCm39)	I231F	probably damaging	Het
Or51a25	A	T	7: 102,373,028 (GRCm39)	M223K	probably benign	Het
Or7a40	C	A	16: 16,491,030 (GRCm39)	A272S	possibly damaging	Het
Or8b3	T	C	9: 38,314,649 (GRCm39)	S160P	possibly damaging	Het
Pdhx	G	A	2: 102,877,124 (GRCm39)	T95M	probably damaging	Het
Pigb	C	T	9: 72,945,957 (GRCm39)	V72I	probably damaging	Het
Prr7	C	A	13: 55,620,166 (GRCm39)	P110Q	unknown	Het
Psg22	A	G	7: 18,458,329 (GRCm39)	D340G	probably benign	Het
Ptprn2	T	C	12: 117,212,301 (GRCm39)	S908P	probably benign	Het
Ros1	T	C	10: 51,994,299 (GRCm39)	Y1348C	probably damaging	Het
Rspry1	T	C	8: 95,376,963 (GRCm39)	I506T	probably benign	Het
Ryr2	T	A	13: 11,720,596 (GRCm39)	Y2684F	probably benign	Het
Sdr16c6	A	G	4: 4,076,575 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,993,545 (GRCm39)	T743A	possibly damaging	Het
Slc6a20b	T	C	9: 123,434,014 (GRCm39)	I275V	probably benign	Het
Slc6a7	A	G	18: 61,134,674 (GRCm39)	I467T	probably benign	Het
Tacc2	A	G	7: 130,226,363 (GRCm39)	D1016G	probably benign	Het
Thsd7a	A	G	6: 12,554,933 (GRCm39)	V317A		Het
Tle3	A	G	9: 61,320,366 (GRCm39)	H598R	probably damaging	Het
Tmem102	A	G	11: 69,694,949 (GRCm39)	L341P	probably damaging	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trappc14	G	A	5: 138,260,991 (GRCm39)	T218M	probably benign	Het
Trhde	T	A	10: 114,249,168 (GRCm39)	D866V	probably damaging	Het
Ttn	A	G	2: 76,581,617 (GRCm39)	I23092T	probably damaging	Het
U2surp	C	A	9: 95,344,877 (GRCm39)	V944L	unknown	Het
Urgcp	T	C	11: 5,666,622 (GRCm39)	H615R	possibly damaging	Het
Zc3h12c	T	C	9: 52,055,402 (GRCm39)	T136A	probably benign	Het
Zfp948	A	T	17: 21,808,677 (GRCm39)	H623L	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
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
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'- TGCACATTGATTTTGTCTGACCAG -3'
(R):5'- ACAGGTTATTCAGTGAGGAATTGG -3'

Sequencing Primer
(F):5'- AGACAGCACCTTCCTTATTTTTAGAC -3'
(R):5'- GGGGTGACGTATTCTATCATTCAC -3'

Posted On

2019-10-07