Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Vps33a'

676834

Institutional Source

Beutler Lab

Gene Symbol

Vps33a

Ensembl Gene

ENSMUSG00000029434

Gene Name

VPS33A CORVET/HOPS core subunit

Synonyms

3830421M04Rik, bf

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123528659-123573038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123569443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 154 (M154V)

Ref Sequence

ENSEMBL: ENSMUSP00000031388 (fasta)

Gene Model

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

AlphaFold

Q9D2N9

Predicted Effect

probably damaging
Transcript: ENSMUST00000031388
AA Change: M154V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: M154V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197467

Meta Mutation Damage Score

0.5840

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	C	1: 105,664,495	Y130H	probably damaging	Het
3425401B19Rik	C	T	14: 32,660,880	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,955,666	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,491,144	M527K	probably benign	Het
Atp10b	C	T	11: 43,215,984	T615I	probably benign	Het
Atxn2	A	G	5: 121,810,910	T1117A	probably benign	Het
AU021092	A	T	16: 5,214,721		probably benign	Het
Bcam	C	T	7: 19,758,746	V505M	probably damaging	Het
Bco2	A	T	9: 50,550,662	L14Q	probably damaging	Het
Caps2	T	G	10: 112,194,919		probably benign	Het
Cblb	T	C	16: 52,166,005	V537A	probably benign	Het
Ccdc141	A	T	2: 77,015,212	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,170,155	D442E	probably benign	Het
Col24a1	A	G	3: 145,314,037	I60V	probably null	Het
Crb1	A	T	1: 139,237,148	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,608,973	P621S	probably benign	Het
Ddx46	A	T	13: 55,666,220	N663I	probably benign	Het
Dgki	C	T	6: 37,034,717		probably benign	Het
Disp2	T	C	2: 118,790,758	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,768,672	E262G	probably damaging	Het
Dvl2	T	A	11: 70,007,935	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,237,768	D712G	probably damaging	Het
Entpd7	A	G	19: 43,704,407		probably benign	Het
Epb41	A	T	4: 131,967,793	W28R		Het
Fabp9	C	T	3: 10,197,171		probably benign	Het
Fkbp15	T	A	4: 62,314,365	M657L	probably benign	Het
Gfy	A	C	7: 45,178,360	L104R	possibly damaging	Het
Gm13103	T	C	4: 143,846,570		probably null	Het
Gm4070	T	C	7: 105,901,913	K644R	probably benign	Het
Gm4884	A	T	7: 41,044,487	I627F	probably damaging	Het
Gm9195	A	T	14: 72,453,880	S1643T	unknown	Het
Gpsm2	C	T	3: 108,703,019	A42T	possibly damaging	Het
Gys2	T	C	6: 142,456,387	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,309,969	N430S	probably damaging	Het
Idh3b	A	T	2: 130,284,084		probably benign	Het
Igdcc3	C	T	9: 65,181,268	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,253,915	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,736,510	A45E	probably damaging	Het
Il10ra	G	A	9: 45,264,333	T230M	probably damaging	Het
Kalrn	A	G	16: 34,217,935	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,367,650	A837D	probably damaging	Het
Kif7	T	A	7: 79,698,902	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,252,043	D134G	possibly damaging	Het
Klk14	T	C	7: 43,694,035	V97A	probably damaging	Het
Lamb3	G	A	1: 193,321,055	V101M	possibly damaging	Het
Lrrc7	C	T	3: 158,161,744	E787K	probably damaging	Het
Mep1a	A	G	17: 43,497,917	I94T	possibly damaging	Het
Ncr1	C	T	7: 4,338,337	S109L	probably benign	Het
Nell2	A	T	15: 95,231,448	M678K	probably damaging	Het
Olfr165	A	T	16: 19,407,646	Y123*	probably null	Het
Olfr27	T	A	9: 39,144,603	F168I	probably damaging	Het
Olfr296-ps1	G	A	7: 86,562,341	C203Y	unknown	Het
Olfr536	C	A	7: 140,504,259	A67S	probably benign	Het
Pnpla1	A	C	17: 28,879,464	Y248S	probably damaging	Het
Prdm10	T	C	9: 31,353,446	F726L	probably damaging	Het
Prdm16	T	C	4: 154,528,913	N19S	probably damaging	Het
Prss44	A	G	9: 110,814,195	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,284,944	R721Q	probably benign	Het
Rassf1	A	T	9: 107,557,541	N149I	probably damaging	Het
Rbp3	A	C	14: 33,956,839	T915P	probably benign	Het
Reg3g	A	T	6: 78,467,805	D63E	probably benign	Het
Rgs3	C	A	4: 62,625,136	T236K	probably damaging	Het
Rin2	T	C	2: 145,848,852	F147L	probably damaging	Het
Skiv2l2	T	A	13: 112,914,500	K180N	probably benign	Het
Slc17a1	T	C	13: 23,878,749	I266T	probably benign	Het
Slc34a3	A	T	2: 25,229,255	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856	E615D	probably benign	Het
Snx16	A	C	3: 10,419,133	D343E	probably benign	Het
St18	T	A	1: 6,795,395	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204	V3260I	possibly damaging	Het
Synm	C	T	7: 67,736,708	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,716,834	E67V	possibly damaging	Het
Tarbp1	G	T	8: 126,471,305	N302K	probably damaging	Het
Tenm2	A	G	11: 36,051,961	S1294P	probably damaging	Het
Ttk	T	C	9: 83,869,251	S794P	probably damaging	Het
Ulk1	G	A	5: 110,786,422	A999V	probably damaging	Het
Upf2	A	G	2: 6,026,172	I808V	unknown	Het
Ush2a	A	G	1: 188,728,536	T2665A	probably benign	Het
Usp8	A	G	2: 126,748,309	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,208,967	I616F	probably damaging	Het
Wdfy4	A	C	14: 33,073,535	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,311,277	F875L	probably benign	Het
Zfp979	T	C	4: 147,613,379	N291S	probably benign	Het
Zp2	T	A	7: 120,143,612	Y99F	possibly damaging	Het

Other mutations in Vps33a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01345:Vps33a	APN	5	123572943	missense	probably benign	0.00
IGL01459:Vps33a	APN	5	123535308	missense	probably benign	0.08
IGL02473:Vps33a	APN	5	123569571	missense	probably damaging	1.00
IGL02899:Vps33a	APN	5	123531176	missense	probably damaging	1.00
R0498:Vps33a	UTSW	5	123570961	missense	probably benign	0.40
R1134:Vps33a	UTSW	5	123570912	missense	probably damaging	0.97
R1928:Vps33a	UTSW	5	123558621	missense	probably benign	0.02
R2012:Vps33a	UTSW	5	123531181	splice site	probably null
R2926:Vps33a	UTSW	5	123569571	missense	possibly damaging	0.83
R3688:Vps33a	UTSW	5	123535211	splice site	probably null
R3872:Vps33a	UTSW	5	123531192	missense	probably benign	0.16
R4437:Vps33a	UTSW	5	123531884	missense	probably benign
R5153:Vps33a	UTSW	5	123558628	missense	probably damaging	1.00
R5396:Vps33a	UTSW	5	123558630	missense	probably damaging	0.98
R5686:Vps33a	UTSW	5	123547001	critical splice donor site	probably null
R5714:Vps33a	UTSW	5	123569500	missense	probably benign
R5814:Vps33a	UTSW	5	123565056	missense	probably damaging	1.00
R6845:Vps33a	UTSW	5	123535272	missense	probably benign	0.02
R7183:Vps33a	UTSW	5	123535215	missense	probably null	0.83
R7359:Vps33a	UTSW	5	123558633	missense	probably benign	0.00
R7593:Vps33a	UTSW	5	123536556	missense	probably benign	0.00
R7855:Vps33a	UTSW	5	123570979	missense	possibly damaging	0.78
R7885:Vps33a	UTSW	5	123535249	missense	possibly damaging	0.70
R8025:Vps33a	UTSW	5	123558675	missense	possibly damaging	0.76
R8139:Vps33a	UTSW	5	123533952	missense	probably benign	0.04
R8275:Vps33a	UTSW	5	123569459	missense	probably damaging	0.99
R8434:Vps33a	UTSW	5	123533881	missense	possibly damaging	0.74
R8845:Vps33a	UTSW	5	123571475	critical splice donor site	probably null
R8879:Vps33a	UTSW	5	123533899	missense	probably damaging	1.00
R9172:Vps33a	UTSW	5	123536541	missense	probably benign	0.17
R9440:Vps33a	UTSW	5	123564984	missense	probably damaging	1.00
R9502:Vps33a	UTSW	5	123558642	missense	probably benign	0.00
R9725:Vps33a	UTSW	5	123531072	missense	possibly damaging	0.95
X0026:Vps33a	UTSW	5	123547097	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TTGGAAGCAGCAGTGTGACAC -3'
(R):5'- ACCTCTGATTCTAAGCAGCAC -3'

Sequencing Primer
(F):5'- TGTGACACACCCAGCAGTG -3'
(R):5'- TCTGATTCTAAGCAGCACATAAGC -3'

Posted On

2021-07-15