Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:Vps33b'

695991

Institutional Source

Beutler Lab

Gene Symbol

Vps33b

Ensembl Gene

ENSMUSG00000030534

Gene Name

vacuolar protein sorting 33B

Synonyms

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79919369-79941327 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 79924434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032749] [ENSMUST00000135053] [ENSMUST00000150585]

AlphaFold

P59016

Predicted Effect

probably null
Transcript: ENSMUST00000032749

SMART Domains

Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534

Domain	Start	End	E-Value	Type
Pfam:Sec1	37	611	2.4e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135053

SMART Domains

Protein: ENSMUSP00000138472
Gene: ENSMUSG00000030534

Domain	Start	End	E-Value	Type
SCOP:d1epua_	18	59	2e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150585

SMART Domains

Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534

Domain	Start	End	E-Value	Type
Pfam:Sec1	36	140	1.5e-12	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 encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
PHENOTYPE: Mice homozygous for a conditional allele activated by an inducible cre exhibit dry scaly skin, hair loss, thrombocytosis, abnormal alpha-granule development, extramedullary hematopoiesis, abnormal platelets and megakaryocytes, and defects in tail tendon collagen I structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
F10	T	C	8: 13,089,564 (GRCm39)	F60L	probably benign	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	probably damaging	Het

Other mutations in Vps33b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Vps33b	APN	7	79,935,591 (GRCm39)	missense	probably damaging	1.00
IGL01352:Vps33b	APN	7	79,934,807 (GRCm39)	splice site	probably null
IGL01863:Vps33b	APN	7	79,924,059 (GRCm39)	critical splice donor site	probably null
IGL01918:Vps33b	APN	7	79,937,560 (GRCm39)	splice site	probably null
IGL02152:Vps33b	APN	7	79,934,817 (GRCm39)	missense	probably benign	0.29
IGL02364:Vps33b	APN	7	79,937,587 (GRCm39)	missense	probably damaging	1.00
IGL02383:Vps33b	APN	7	79,935,082 (GRCm39)	splice site	probably null
IGL02669:Vps33b	APN	7	79,925,786 (GRCm39)	splice site	probably benign
IGL03104:Vps33b	APN	7	79,925,831 (GRCm39)	missense	probably damaging	1.00
IGL03333:Vps33b	APN	7	79,923,973 (GRCm39)	splice site	probably benign
PIT4651001:Vps33b	UTSW	7	79,939,755 (GRCm39)	missense	probably damaging	0.99
R0267:Vps33b	UTSW	7	79,935,802 (GRCm39)	missense	possibly damaging	0.87
R0379:Vps33b	UTSW	7	79,933,162 (GRCm39)	splice site	probably null
R0971:Vps33b	UTSW	7	79,937,647 (GRCm39)	missense	possibly damaging	0.75
R1184:Vps33b	UTSW	7	79,932,234 (GRCm39)	missense	probably benign	0.02
R1639:Vps33b	UTSW	7	79,934,101 (GRCm39)	missense	probably damaging	1.00
R1693:Vps33b	UTSW	7	79,937,641 (GRCm39)	missense	probably damaging	1.00
R4502:Vps33b	UTSW	7	79,937,655 (GRCm39)	missense	possibly damaging	0.94
R4609:Vps33b	UTSW	7	79,940,866 (GRCm39)	missense	probably benign	0.00
R4748:Vps33b	UTSW	7	79,939,796 (GRCm39)	missense	probably damaging	1.00
R5083:Vps33b	UTSW	7	79,924,389 (GRCm39)	missense	probably damaging	0.99
R5304:Vps33b	UTSW	7	79,924,001 (GRCm39)	missense	probably damaging	1.00
R5774:Vps33b	UTSW	7	79,935,088 (GRCm39)	missense	probably benign	0.38
R5991:Vps33b	UTSW	7	79,933,162 (GRCm39)	splice site	probably null
R7085:Vps33b	UTSW	7	79,925,837 (GRCm39)	missense	probably benign	0.12
R7409:Vps33b	UTSW	7	79,935,017 (GRCm39)	missense	probably damaging	0.97
R8025:Vps33b	UTSW	7	79,940,094 (GRCm39)	splice site	probably benign
R8460:Vps33b	UTSW	7	79,937,617 (GRCm39)	missense	probably benign	0.04
R8930:Vps33b	UTSW	7	79,932,241 (GRCm39)	missense	possibly damaging	0.89
R8932:Vps33b	UTSW	7	79,932,241 (GRCm39)	missense	possibly damaging	0.89
R9065:Vps33b	UTSW	7	79,935,339 (GRCm39)	missense	probably damaging	0.99
R9110:Vps33b	UTSW	7	79,939,743 (GRCm39)	missense	probably benign	0.04
X0018:Vps33b	UTSW	7	79,940,313 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AAGACAGTCAGCTCACCTGG -3'
(R):5'- GCAGACTAACAATCTGAGTGCC -3'

Sequencing Primer
(F):5'- ATTTTAGTGGGATGAGAACAGACTG -3'
(R):5'- GTGCCATATTATTTAACAACCAGTGC -3'

Posted On

2022-02-07