Mutagenetix > Incidental Mutation

Incidental Mutation 'R9502:Vps33a'

717621

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 #

R9502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123528659-123573038 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123558642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 316 (K316R)

Ref Sequence

ENSEMBL: ENSMUSP00000031388 (fasta)

Gene Model

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

AlphaFold

Q9D2N9

Predicted Effect

probably benign
Transcript: ENSMUST00000031388
AA Change: K316R

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

SMART Domains

Protein: ENSMUSP00000031388
Gene: ENSMUSG00000029434
AA Change: K316R

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: 99.2%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	A	1: 52,925,503	H22L	possibly damaging	Het
4930452B06Rik	A	G	14: 8,659,452	F48L	probably damaging	Het
5430419D17Rik	T	C	7: 131,235,086	V419A	possibly damaging	Het
9530053A07Rik	A	G	7: 28,137,466	D270G	probably benign	Het
Abca2	C	A	2: 25,436,883	Y590*	probably null	Het
Acot1	G	T	12: 84,014,579	E220*	probably null	Het
Acsl5	T	G	19: 55,283,312	I292S	probably benign	Het
Acvr1b	C	T	15: 101,194,829	H118Y	probably benign	Het
Aggf1	A	G	13: 95,370,942	C112R	probably benign	Het
Ap2a2	T	A	7: 141,598,776	N105K	probably benign	Het
Aste1	G	A	9: 105,396,681	C40Y	probably benign	Het
Carmil1	T	C	13: 24,139,374	T232A	probably benign	Het
Ccser2	A	G	14: 36,909,133	F649L	probably benign	Het
Cenpf	G	A	1: 189,656,781	T1618I	probably damaging	Het
Ces5a	G	A	8: 93,535,680	Q10*	probably null	Het
Cfh	A	T	1: 140,112,582	L592Q	possibly damaging	Het
Chchd6	T	C	6: 89,419,781	H216R	probably damaging	Het
Chrm5	A	T	2: 112,480,695	H25Q	probably damaging	Het
Clasp2	C	T	9: 113,908,798	T1080I	probably benign	Het
Clic6	G	T	16: 92,498,700	G83C	probably damaging	Het
Coro1c	A	T	5: 113,850,720	S187R	probably damaging	Het
Cyp2a4	A	G	7: 26,308,579	D137G	probably benign	Het
Ddhd1	G	T	14: 45,657,222	Q264K	possibly damaging	Het
Dhdds	A	T	4: 133,980,186	Y235N	probably damaging	Het
Ephb1	T	C	9: 102,041,287	E341G	probably damaging	Het
Fam53b	T	C	7: 132,760,011	D96G	probably benign	Het
Fermt1	G	T	2: 132,939,468	R67S	probably benign	Het
Fmnl2	C	A	2: 53,108,300	P559H	unknown	Het
Foxo3	C	T	10: 42,197,025	V499M	probably damaging	Het
Frmpd2	T	A	14: 33,505,447	F261I	probably benign	Het
Garem2	T	A	5: 30,116,752	L703Q	possibly damaging	Het
Ggct	T	A	6: 54,985,887	I180F	possibly damaging	Het
Gigyf2	T	A	1: 87,403,724	I198K	unknown	Het
Gucy2d	T	C	7: 98,458,735	F700L	probably benign	Het
Gucy2g	T	A	19: 55,210,384	I776F	probably damaging	Het
Has1	T	C	17: 17,843,709	Y556C	probably damaging	Het
Hecw1	T	C	13: 14,371,982	I145V	probably damaging	Het
Helz2	T	A	2: 181,236,452	Y851F	possibly damaging	Het
Hes7	C	A	11: 69,122,885	P190Q	probably benign	Het
Hist1h2ae	T	C	13: 23,570,871	I80V	probably benign	Het
Hivep1	T	C	13: 42,169,303	C79R		Het
Hnrnpr	A	G	4: 136,329,370	D227G	probably damaging	Het
Hoxb9	C	A	11: 96,271,718	F59L	probably benign	Het
Hspb1	A	T	5: 135,889,076	H135L	probably benign	Het
Igkv1-122	T	A	6: 68,017,364	F79I	probably benign	Het
Igtp	G	C	11: 58,206,974	V324L	possibly damaging	Het
Il18r1	G	A	1: 40,489,692	A299T	probably benign	Het
Kat14	C	A	2: 144,393,607	P329Q	probably damaging	Het
Krt33b	T	A	11: 100,026,489	Q179L	probably benign	Het
Lrrk2	C	T	15: 91,723,162	A576V	probably damaging	Het
Map3k11	A	G	19: 5,690,596	E117G	probably damaging	Het
Mettl7a1	T	C	15: 100,305,334	V163A	probably damaging	Het
Mgme1	C	T	2: 144,272,236	A86V	probably benign	Het
Mks1	C	A	11: 87,862,940	A534E	probably damaging	Het
Mrpl28	T	A	17: 26,124,620	I118N	probably damaging	Het
Mrps22	T	A	9: 98,598,166	Y102F	probably damaging	Het
Myt1	A	T	2: 181,820,198	H1000L	probably damaging	Het
Ncoa5	A	G	2: 165,012,882	Y107H	possibly damaging	Het
Nipsnap3a	A	T	4: 52,994,039	Y40F	probably benign	Het
Nlrc4	T	A	17: 74,445,585	Y601F	probably benign	Het
Obsl1	A	G	1: 75,489,623	L1487P	probably damaging	Het
Oit3	A	T	10: 59,428,351	N320K	probably damaging	Het
Olfr1354	A	G	10: 78,917,725	N295S	probably damaging	Het
Olfr393	T	C	11: 73,847,999	N42S	probably damaging	Het
Otud4	T	C	8: 79,673,851	S1065P	probably benign	Het
P3h1	A	C	4: 119,236,811	E221A	possibly damaging	Het
Pgpep1	C	A	8: 70,651,249	A124S	probably benign	Het
Pigg	T	A	5: 108,347,916	S940T		Het
Proser3	G	T	7: 30,546,162	T139K	possibly damaging	Het
Prr36	C	T	8: 4,214,775	R297H	unknown	Het
Rai14	A	T	15: 10,587,861	F306I	possibly damaging	Het
Rnase13	T	A	14: 51,922,368	N105Y	probably damaging	Het
Ros1	A	G	10: 52,124,078	I1138T	probably benign	Het
Rsbn1	C	A	3: 103,914,830	T127K	possibly damaging	Het
Rsf1	G	GCCGGCGGCC	7: 97,579,909		probably benign	Het
Rtca	T	C	3: 116,507,764	T45A	probably benign	Het
Sema6b	G	T	17: 56,132,500	D82E	probably benign	Het
Serpinc1	A	T	1: 160,993,609	K209*	probably null	Het
Slc4a1	C	A	11: 102,356,848	R403L	probably damaging	Het
Smtn	A	G	11: 3,532,780	V92A	possibly damaging	Het
Spag9	T	C	11: 94,068,966	V327A	probably damaging	Het
Spdl1	T	C	11: 34,822,456	N233S	possibly damaging	Het
Ston2	T	C	12: 91,740,650	D62G	possibly damaging	Het
Sult2a5	A	G	7: 13,625,318	D73G	probably benign	Het
Ticrr	A	G	7: 79,693,849	E1154G	probably benign	Het
Tmem110	A	G	14: 30,871,506	N189S	probably damaging	Het
Tmem163	A	T	1: 127,552,792	M111K	probably damaging	Het
Tmem266	T	C	9: 55,437,689	V535A	probably damaging	Het
Tmprss7	T	A	16: 45,664,192	D535V	probably damaging	Het
Tpcn1	A	C	5: 120,560,325	I44S	probably benign	Het
Trbv12-1	T	A	6: 41,113,987	F98I	probably damaging	Het
Trhde	A	T	10: 114,800,792	V170E	probably damaging	Het
Trpt1	A	T	19: 6,998,210	T111S	probably benign	Het
Ttc13	T	C	8: 124,683,271	T401A	possibly damaging	Het
Ulbp1	T	C	10: 7,473,260	I28V	probably benign	Het
Vldlr	A	T	19: 27,241,342	D531V	probably damaging	Het
Vmn2r85	T	A	10: 130,425,518	T317S	probably damaging	Het
Vwa3b	A	G	1: 37,060,439	N245S	probably damaging	Het
Zfp266	A	T	9: 20,502,117	C82*	probably null	Het
Zfp746	T	C	6: 48,064,463	K443R	probably 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
R8880:Vps33a	UTSW	5	123569443	missense	probably damaging	0.98
R9172:Vps33a	UTSW	5	123536541	missense	probably benign	0.17
R9440:Vps33a	UTSW	5	123564984	missense	probably damaging	1.00
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'- CAGTTTGAGGACCTTTAATTTCCAAGG -3'
(R):5'- ATGTGAAGTTGCCTCCAGAG -3'

Sequencing Primer
(F):5'- CTTTACAAGTCAGCATGCATGGGC -3'
(R):5'- AAGTTGCCTCCAGAGAAGTTTGC -3'

Posted On

2022-07-18