Mutagenetix > Incidental Mutation

Incidental Mutation 'R3872:Vps33a'

276604

Institutional Source

Beutler Lab

Gene Symbol

Vps33a

Ensembl Gene

ENSMUSG00000029434

Gene Name

VPS33A CORVET/HOPS core subunit

Synonyms

3830421M04Rik, bf

MMRRC Submission

040790-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

123666820-123711104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 123669255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 549 (V549I)

Ref Sequence

ENSEMBL: ENSMUSP00000031388 (fasta)

Gene Model

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

AlphaFold

Q9D2N9

Predicted Effect

probably benign
Transcript: ENSMUST00000031388
AA Change: V549I

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: V549I

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	T	C	11: 119,901,045 (GRCm39)	E1117G	possibly damaging	Het
Abca5	T	A	11: 110,201,059 (GRCm39)	Y447F	probably damaging	Het
Akap12	G	A	10: 4,307,590 (GRCm39)	V1467I	probably benign	Het
Baz2a	T	A	10: 127,959,979 (GRCm39)	M1419K	probably damaging	Het
Bhmt-ps1	T	C	4: 26,369,201 (GRCm39)		noncoding transcript	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Car12	C	A	9: 66,624,834 (GRCm39)		probably benign	Het
Cic	T	C	7: 24,971,124 (GRCm39)	V285A	possibly damaging	Het
Col19a1	A	G	1: 24,614,408 (GRCm39)		probably benign	Het
Col6a4	T	C	9: 105,890,858 (GRCm39)	N1812S	possibly damaging	Het
Cry1	T	C	10: 84,969,024 (GRCm39)		probably null	Het
Dlgap4	T	C	2: 156,591,267 (GRCm39)	S818P	probably benign	Het
Dlx5	G	T	6: 6,878,209 (GRCm39)	P274T	probably benign	Het
Dnah2	A	G	11: 69,320,174 (GRCm39)	I3965T	probably damaging	Het
Dnah5	A	G	15: 28,411,656 (GRCm39)	K3675R	possibly damaging	Het
Dpp6	A	G	5: 27,926,056 (GRCm39)	Y710C	probably damaging	Het
Dsc3	C	A	18: 20,104,565 (GRCm39)	K587N	probably damaging	Het
Eif1ad10	T	C	12: 88,216,476 (GRCm39)	D132G	unknown	Het
Epcam	C	A	17: 87,947,354 (GRCm39)	T36K	possibly damaging	Het
Epha2	T	C	4: 141,035,716 (GRCm39)	W51R	probably damaging	Het
Eya4	A	T	10: 23,031,870 (GRCm39)	I251N	probably damaging	Het
Fbxo21	G	A	5: 118,138,394 (GRCm39)	V447I	possibly damaging	Het
Firrm	A	T	1: 163,814,533 (GRCm39)	S137T	probably damaging	Het
Frg2f1	T	A	4: 119,388,155 (GRCm39)	T115S	possibly damaging	Het
Hecw2	A	T	1: 53,871,916 (GRCm39)		probably benign	Het
Igfals	G	A	17: 25,100,579 (GRCm39)	V557I	possibly damaging	Het
Iqca1	A	T	1: 90,017,203 (GRCm39)	Y411N	probably damaging	Het
Itpa	T	G	2: 130,522,930 (GRCm39)	S176A	probably damaging	Het
Klhl1	A	G	14: 96,755,615 (GRCm39)	F47L	probably benign	Het
Krt26	T	C	11: 99,225,570 (GRCm39)	K304E	probably damaging	Het
Krt34	T	C	11: 99,932,243 (GRCm39)	H27R	probably benign	Het
Mia3	T	C	1: 183,138,342 (GRCm39)	E791G	probably benign	Het
Mroh2b	A	T	15: 4,954,543 (GRCm39)	K669*	probably null	Het
Msmo1	C	T	8: 65,175,497 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,226,867 (GRCm39)	T1387A	probably benign	Het
Myo1g	C	T	11: 6,464,886 (GRCm39)	V463I	possibly damaging	Het
Or12d12	T	A	17: 37,610,870 (GRCm39)	T148S	probably benign	Het
Or4f6	T	C	2: 111,838,668 (GRCm39)	T288A	possibly damaging	Het
Or5h24	G	A	16: 58,919,124 (GRCm39)	T77I	unknown	Het
Or5l13	T	A	2: 87,779,874 (GRCm39)	R234S	probably damaging	Het
Pde10a	C	A	17: 8,975,923 (GRCm39)	T16K	possibly damaging	Het
Pfas	T	C	11: 68,891,089 (GRCm39)	T310A	probably damaging	Het
Phb2	G	A	6: 124,693,394 (GRCm39)		probably null	Het
Plin3	A	G	17: 56,591,181 (GRCm39)	S200P	probably damaging	Het
Plxna1	C	A	6: 89,309,674 (GRCm39)	E1087*	probably null	Het
Rnf17	G	T	14: 56,712,870 (GRCm39)	R779L	possibly damaging	Het
Sacs	C	T	14: 61,385,517 (GRCm39)	T6M	probably benign	Het
Scfd1	A	G	12: 51,438,979 (GRCm39)	Y147C	probably damaging	Het
Septin1	T	C	7: 126,814,447 (GRCm39)		probably benign	Het
Septin5	A	G	16: 18,441,723 (GRCm39)	L344P	probably damaging	Het
Sgsh	A	G	11: 119,241,773 (GRCm39)	L111P	probably damaging	Het
Slc35f1	A	G	10: 52,898,006 (GRCm39)	D139G	possibly damaging	Het
Sod3	A	G	5: 52,525,631 (GRCm39)	Y110C	probably damaging	Het
Stk35	T	C	2: 129,652,495 (GRCm39)	V332A	possibly damaging	Het
Tacc2	C	T	7: 130,224,152 (GRCm39)	T279M	probably benign	Het
Tdo2	T	C	3: 81,875,393 (GRCm39)	E187G	probably benign	Het
Tmem150b	A	T	7: 4,727,360 (GRCm39)	Y48*	probably null	Het
Usp34	C	T	11: 23,439,033 (GRCm39)	P3532S	possibly damaging	Het
Vmn2r60	C	T	7: 41,785,878 (GRCm39)	S227L	probably benign	Het
Zfp788	T	A	7: 41,298,868 (GRCm39)	Y449*	probably null	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
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
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'- AGCTCATTGTGTGGTGACC -3'
(R):5'- GTGTGTATCCGTGTACAGGC -3'

Sequencing Primer
(F):5'- GACCTGTCACGTCTCCTCCG -3'
(R):5'- CGTAGCTGAGTTACAGGCATC -3'

Posted On

2015-04-06