Mutagenetix > Incidental Mutation

Incidental Mutation 'R6845:Vps33a'

534707

Institutional Source

Beutler Lab

Gene Symbol

Vps33a

Ensembl Gene

ENSMUSG00000029434

Gene Name

VPS33A CORVET/HOPS core subunit

Synonyms

3830421M04Rik, bf

MMRRC Submission

044951-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

123666820-123711104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123673335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 417 (V417A)

Ref Sequence

ENSEMBL: ENSMUSP00000031388 (fasta)

Gene Model

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

AlphaFold

Q9D2N9

Predicted Effect

probably benign
Transcript: ENSMUST00000031388
AA Change: V417A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: V417A

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

Meta Mutation Damage Score

0.1002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

95% (53/56)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	C	A	3: 59,659,539 (GRCm39)	P331T	probably damaging	Het
Adam6a	T	C	12: 113,507,717 (GRCm39)	L30P	possibly damaging	Het
Cabin1	G	A	10: 75,557,342 (GRCm39)	R1099W	probably damaging	Het
Cdon	C	T	9: 35,398,252 (GRCm39)	Q990*	probably null	Het
Cit	T	A	5: 116,122,947 (GRCm39)	L1421Q	probably damaging	Het
Cplane1	T	C	15: 8,251,388 (GRCm39)	S1887P	possibly damaging	Het
Ddx27	T	C	2: 166,864,016 (GRCm39)	C242R	probably damaging	Het
Dlgap5	A	T	14: 47,654,020 (GRCm39)	V3E	possibly damaging	Het
Dnah6	A	T	6: 73,110,525 (GRCm39)	F1687I	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Duoxa1	A	T	2: 122,135,672 (GRCm39)	Y142*	probably null	Het
F3	A	G	3: 121,526,124 (GRCm39)	K229R	probably benign	Het
Fance	A	G	17: 28,536,565 (GRCm39)	R42G	probably damaging	Het
Foxs1	T	C	2: 152,774,619 (GRCm39)	K145E	probably benign	Het
Gpd1l	T	C	9: 114,762,785 (GRCm39)	M1V	probably null	Het
Gpr149	T	A	3: 62,511,942 (GRCm39)	H19L	possibly damaging	Het
Hmgcs1	T	C	13: 120,162,674 (GRCm39)	Y213H	probably damaging	Het
Htra1	C	A	7: 130,538,021 (GRCm39)		probably benign	Het
Il20ra	A	G	10: 19,635,059 (GRCm39)	I433M	probably benign	Het
Il3ra	G	C	14: 14,346,517 (GRCm38)		probably null	Het
Kif11	C	T	19: 37,392,565 (GRCm39)	L499F	probably damaging	Het
Kifc3	A	G	8: 95,835,307 (GRCm39)	M189T	probably benign	Het
Klk1b3	G	A	7: 43,851,127 (GRCm39)	A187T	probably benign	Het
Klre1	T	C	6: 129,561,202 (GRCm39)	S188P	probably damaging	Het
Krtap4-13	G	A	11: 99,700,192 (GRCm39)		probably benign	Het
Lgi4	A	T	7: 30,760,510 (GRCm39)	T22S	probably damaging	Het
Lrp10	C	T	14: 54,707,145 (GRCm39)	R661C	probably damaging	Het
Lrrtm1	A	G	6: 77,220,864 (GRCm39)	D107G	probably benign	Het
Mad1l1	C	A	5: 139,994,924 (GRCm39)	A701S	probably damaging	Het
Mia2	T	A	12: 59,231,064 (GRCm39)	Y1237*	probably null	Het
Mpp4	T	C	1: 59,183,963 (GRCm39)	D278G	probably benign	Het
Myh6	G	A	14: 55,182,206 (GRCm39)	S1734L	probably benign	Het
Nbeal1	C	T	1: 60,320,469 (GRCm39)	R2021*	probably null	Het
Nol4l	T	C	2: 153,258,582 (GRCm39)	T602A	probably benign	Het
Or5b109	T	A	19: 13,211,997 (GRCm39)	C128S	probably damaging	Het
Pcdh15	A	T	10: 74,466,465 (GRCm39)	H894L	probably benign	Het
Phldb1	A	T	9: 44,627,359 (GRCm39)	I362N	probably damaging	Het
Plcxd2	T	A	16: 45,830,223 (GRCm39)		probably benign	Het
Ppp1r13l	G	T	7: 19,105,323 (GRCm39)	R365L	probably damaging	Het
Pramel16	T	C	4: 143,676,394 (GRCm39)	T237A	probably benign	Het
Rfc1	A	T	5: 65,468,459 (GRCm39)	S85T	possibly damaging	Het
Rnf133	A	G	6: 23,649,341 (GRCm39)	V196A	possibly damaging	Het
Shank3	T	C	15: 89,432,528 (GRCm39)	V1016A	probably benign	Het
Slc22a21	T	C	11: 53,870,466 (GRCm39)	D73G	probably benign	Het
Slc34a2	T	A	5: 53,226,511 (GRCm39)	F545I	probably damaging	Het
Slc4a7	T	A	14: 14,775,000 (GRCm38)	M810K	probably damaging	Het
Ss18	A	T	18: 14,788,221 (GRCm39)	M83K	possibly damaging	Het
Tkfc	T	C	19: 10,576,696 (GRCm39)	R94G	probably damaging	Het
Tpp2	T	A	1: 44,017,668 (GRCm39)	C757*	probably null	Het
Trav13n-4	T	C	14: 53,599,856 (GRCm39)	L11P	probably damaging	Het
Trpm4	T	C	7: 44,971,753 (GRCm39)	M138V	possibly damaging	Het
Utp18	G	A	11: 93,776,582 (GRCm39)		probably benign	Het
Zfp207	C	T	11: 80,286,317 (GRCm39)		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
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
R7885:Vps33a	UTSW	5	123,673,312 (GRCm39)	missense	possibly damaging	0.70
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'- CATGCTGCCAAGTTACGAC -3'
(R):5'- ATGAGAAAGTGAGCCATTCTCCC -3'

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

Posted On

2018-09-12