Mutagenetix > Incidental Mutation

Incidental Mutation 'R7885:Vps33a'

609002

Institutional Source

Beutler Lab

Gene Symbol

Vps33a

Ensembl Gene

ENSMUSG00000029434

Gene Name

VPS33A CORVET/HOPS core subunit

Synonyms

3830421M04Rik, bf

MMRRC Submission

045937-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7885 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123666820-123711104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123673312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 425 (K425E)

Ref Sequence

ENSEMBL: ENSMUSP00000031388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031388]

AlphaFold

Q9D2N9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031388
AA Change: K425E

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: K425E

Domain	Start	End	E-Value	Type
low complexity region	12	27	N/A	INTRINSIC
Pfam:Sec1	34	592	7.2e-104	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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 Sec-1 domain family, and it encodes a protein similar to the yeast class C Vps33 protein. The mammalian class C VPS proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene produce hypopigmentation, an extended bleeeding time and abnormal kidney function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	G	10: 77,131,542 (GRCm39)	V649A	possibly damaging	Het
Arglu1	C	T	8: 8,717,337 (GRCm39)	R244H	possibly damaging	Het
Asic5	A	T	3: 81,913,812 (GRCm39)	Y204F	probably benign	Het
Asz1	A	G	6: 18,104,876 (GRCm39)	F76S	probably damaging	Het
Bin1	G	A	18: 32,552,896 (GRCm39)	A174T	probably damaging	Het
Bnipl	A	C	3: 95,157,551 (GRCm39)	S23A	probably benign	Het
Cd19	T	C	7: 126,011,303 (GRCm39)	T294A	probably benign	Het
Cdon	G	A	9: 35,367,818 (GRCm39)	V238I	probably benign	Het
Chd3	A	T	11: 69,247,451 (GRCm39)	D957E	probably benign	Het
Crhbp	T	C	13: 95,568,515 (GRCm39)	Q307R	probably damaging	Het
Cst3	A	G	2: 148,714,741 (GRCm39)	M112T	probably benign	Het
Dgkb	A	G	12: 38,189,425 (GRCm39)	E276G	probably damaging	Het
Exoc4	T	A	6: 33,735,001 (GRCm39)	N539K	probably benign	Het
Gm3099	A	G	14: 15,345,429 (GRCm39)	E85G	probably benign	Het
Gpatch2	A	G	1: 186,957,698 (GRCm39)		probably null	Het
Hs3st5	T	A	10: 36,704,776 (GRCm39)	Y26*	probably null	Het
Hspg2	A	T	4: 137,244,148 (GRCm39)	D802V	probably damaging	Het
Ifih1	A	G	2: 62,431,813 (GRCm39)	V846A	possibly damaging	Het
Lama4	T	A	10: 38,964,840 (GRCm39)	S1402T	probably benign	Het
Lrmda	A	G	14: 22,648,388 (GRCm39)	T73A	unknown	Het
Lrrc1	A	T	9: 77,349,471 (GRCm39)	V365E	probably damaging	Het
Lrrc37a	T	A	11: 103,393,868 (GRCm39)	Q519L	probably benign	Het
Mlc1	G	T	15: 88,862,107 (GRCm39)	D36E	probably benign	Het
Mrc2	A	T	11: 105,223,092 (GRCm39)	D445V	probably damaging	Het
Muc16	A	G	9: 18,550,760 (GRCm39)	S5178P	probably benign	Het
Nbea	A	G	3: 55,573,110 (GRCm39)	I2491T	probably damaging	Het
Ncoa1	A	G	12: 4,389,044 (GRCm39)	I77T	probably damaging	Het
Npepps	G	T	11: 97,109,474 (GRCm39)	H701N	probably damaging	Het
Or4n4b	T	G	14: 50,536,041 (GRCm39)	T242P	probably damaging	Het
Or7g22	A	T	9: 19,048,831 (GRCm39)	I181F	possibly damaging	Het
Pclo	T	TTCTAG	5: 14,764,209 (GRCm39)		probably null	Het
Pclo	GTCTAT	GTCTATTCTAT	5: 14,764,204 (GRCm39)		probably null	Het
Pclo	TCTAT	TCTATACTAT	5: 14,764,205 (GRCm39)		probably null	Het
Pi4kb	T	C	3: 94,906,387 (GRCm39)	Y645H	probably damaging	Het
Pik3r5	C	T	11: 68,383,528 (GRCm39)	A449V	possibly damaging	Het
Plat	A	G	8: 23,261,736 (GRCm39)	T45A	probably benign	Het
Platr25	T	C	13: 62,848,676 (GRCm39)	K62R	possibly damaging	Het
Ppp5c	A	G	7: 16,740,111 (GRCm39)	V410A	possibly damaging	Het
Prdm2	C	T	4: 142,861,140 (GRCm39)	A717T	probably benign	Het
Pstpip2	C	A	18: 77,882,422 (GRCm39)	T2K	probably benign	Het
Ptpn12	A	C	5: 21,203,523 (GRCm39)	S418R	possibly damaging	Het
Rint1	A	G	5: 24,010,642 (GRCm39)	S255G	probably benign	Het
Rmc1	T	C	18: 12,322,371 (GRCm39)	L608P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Stab2	T	C	10: 86,714,776 (GRCm39)	H1581R	probably benign	Het
Stau2	T	C	1: 16,530,577 (GRCm39)	Y114C	unknown	Het
Ticam1	T	C	17: 56,578,067 (GRCm39)	T343A	probably benign	Het
Tmem131l	T	C	3: 83,817,724 (GRCm39)	K1259E	possibly damaging	Het
Vmn2r103	T	A	17: 20,013,385 (GRCm39)	F169I	probably benign	Het
Vwa8	T	C	14: 79,258,089 (GRCm39)	M746T	probably benign	Het
Zc3hav1	A	G	6: 38,313,598 (GRCm39)	I149T	possibly damaging	Het
Zfp708	A	T	13: 67,222,193 (GRCm39)	D62E	probably benign	Het

Other mutations in Vps33a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Vps33a	APN	5	123,711,006 (GRCm39)	missense	probably benign	0.00
IGL01459:Vps33a	APN	5	123,673,371 (GRCm39)	missense	probably benign	0.08
IGL02473:Vps33a	APN	5	123,707,634 (GRCm39)	missense	probably damaging	1.00
IGL02899:Vps33a	APN	5	123,669,239 (GRCm39)	missense	probably damaging	1.00
R0498:Vps33a	UTSW	5	123,709,024 (GRCm39)	missense	probably benign	0.40
R1134:Vps33a	UTSW	5	123,708,975 (GRCm39)	missense	probably damaging	0.97
R1928:Vps33a	UTSW	5	123,696,684 (GRCm39)	missense	probably benign	0.02
R2012:Vps33a	UTSW	5	123,669,244 (GRCm39)	splice site	probably null
R2926:Vps33a	UTSW	5	123,707,634 (GRCm39)	missense	possibly damaging	0.83
R3688:Vps33a	UTSW	5	123,673,274 (GRCm39)	splice site	probably null
R3872:Vps33a	UTSW	5	123,669,255 (GRCm39)	missense	probably benign	0.16
R4437:Vps33a	UTSW	5	123,669,947 (GRCm39)	missense	probably benign
R5153:Vps33a	UTSW	5	123,696,691 (GRCm39)	missense	probably damaging	1.00
R5396:Vps33a	UTSW	5	123,696,693 (GRCm39)	missense	probably damaging	0.98
R5686:Vps33a	UTSW	5	123,685,064 (GRCm39)	critical splice donor site	probably null
R5714:Vps33a	UTSW	5	123,707,563 (GRCm39)	missense	probably benign
R5814:Vps33a	UTSW	5	123,703,119 (GRCm39)	missense	probably damaging	1.00
R6845:Vps33a	UTSW	5	123,673,335 (GRCm39)	missense	probably benign	0.02
R7183:Vps33a	UTSW	5	123,673,278 (GRCm39)	missense	probably null	0.83
R7359:Vps33a	UTSW	5	123,696,696 (GRCm39)	missense	probably benign	0.00
R7593:Vps33a	UTSW	5	123,674,619 (GRCm39)	missense	probably benign	0.00
R7855:Vps33a	UTSW	5	123,709,042 (GRCm39)	missense	possibly damaging	0.78
R8025:Vps33a	UTSW	5	123,696,738 (GRCm39)	missense	possibly damaging	0.76
R8139:Vps33a	UTSW	5	123,672,015 (GRCm39)	missense	probably benign	0.04
R8275:Vps33a	UTSW	5	123,707,522 (GRCm39)	missense	probably damaging	0.99
R8434:Vps33a	UTSW	5	123,671,944 (GRCm39)	missense	possibly damaging	0.74
R8845:Vps33a	UTSW	5	123,709,538 (GRCm39)	critical splice donor site	probably null
R8879:Vps33a	UTSW	5	123,671,962 (GRCm39)	missense	probably damaging	1.00
R8880:Vps33a	UTSW	5	123,707,506 (GRCm39)	missense	probably damaging	0.98
R9172:Vps33a	UTSW	5	123,674,604 (GRCm39)	missense	probably benign	0.17
R9440:Vps33a	UTSW	5	123,703,047 (GRCm39)	missense	probably damaging	1.00
R9502:Vps33a	UTSW	5	123,696,705 (GRCm39)	missense	probably benign	0.00
R9725:Vps33a	UTSW	5	123,669,135 (GRCm39)	missense	possibly damaging	0.95
X0026:Vps33a	UTSW	5	123,685,160 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GCTGCCAAGTTACGACAAATTTTAG -3'
(R):5'- TGAGCCATTCTCCCACATAGC -3'

Sequencing Primer
(F):5'- GGAACTTTCTCTGTAGACCAGGC -3'
(R):5'- ATTCTCCCACATAGCCTTGGGG -3'

Posted On

2019-12-20