Mutagenetix > Incidental Mutation

Incidental Mutation 'R1184:Vps33b'

101918

Institutional Source

Beutler Lab

Gene Symbol

Vps33b

Ensembl Gene

ENSMUSG00000030534

Gene Name

vacuolar protein sorting 33B

Synonyms

MMRRC Submission

039256-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1184 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

79919369-79941327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79932234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 135 (D135E)

Ref Sequence

ENSEMBL: ENSMUSP00000032749 (fasta)

Gene Model

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

AlphaFold

P59016

Predicted Effect

probably benign
Transcript: ENSMUST00000032749
AA Change: D135E

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: D135E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128254

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

noncoding transcript
Transcript: ENSMUST00000145594

Predicted Effect

unknown
Transcript: ENSMUST00000150585
AA Change: C141S

SMART Domains

Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534
AA Change: C141S

Domain	Start	End	E-Value	Type
Pfam:Sec1	36	140	1.5e-12	PFAM

Meta Mutation Damage Score

0.0968

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (83/83)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,137,894 (GRCm39)	R7G	probably damaging	Het
Ahdc1	T	A	4: 132,792,707 (GRCm39)	M1316K	probably benign	Het
Alkal1	A	G	1: 6,459,712 (GRCm39)	Y96C	probably damaging	Het
Anxa2r1	A	T	13: 120,496,667 (GRCm39)	N67K	probably benign	Het
Arhgap17	T	C	7: 122,913,913 (GRCm39)	Y199C	probably damaging	Het
Bmp2	T	C	2: 133,403,388 (GRCm39)	V313A	probably damaging	Het
Cacna1b	C	T	2: 24,577,757 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,140,876 (GRCm39)	T141A	probably damaging	Het
Ccdc57	A	G	11: 120,764,637 (GRCm39)		probably benign	Het
Cenpe	T	C	3: 134,970,183 (GRCm39)		probably null	Het
Chadl	T	C	15: 81,577,258 (GRCm39)	S198G	probably benign	Het
Chd6	G	C	2: 160,872,722 (GRCm39)	P286R	probably damaging	Het
Clec4a4	G	T	6: 122,989,671 (GRCm39)	W104L	probably benign	Het
Coq4	G	A	2: 29,678,346 (GRCm39)		probably benign	Het
Cplane1	G	T	15: 8,245,971 (GRCm39)	V1448L	probably benign	Het
Crtc2	T	A	3: 90,169,940 (GRCm39)	Y445*	probably null	Het
Dapk1	A	T	13: 60,844,112 (GRCm39)	I44F	probably damaging	Het
Dcbld2	T	A	16: 58,270,204 (GRCm39)		probably null	Het
Dcun1d4	T	C	5: 73,668,455 (GRCm39)		probably benign	Het
Depdc7	A	T	2: 104,560,523 (GRCm39)		probably benign	Het
Dna2	A	G	10: 62,794,977 (GRCm39)	D416G	probably benign	Het
Dnah2	A	T	11: 69,390,016 (GRCm39)	I743N	probably damaging	Het
Dnah9	A	G	11: 65,975,438 (GRCm39)		probably null	Het
Dock3	A	G	9: 106,846,999 (GRCm39)	S877P	probably damaging	Het
Eif3l	T	A	15: 78,959,966 (GRCm39)		probably null	Het
Epha5	A	T	5: 84,219,134 (GRCm39)		probably null	Het
Ffar3	T	A	7: 30,554,529 (GRCm39)	N264Y	probably damaging	Het
Fyb1	A	T	15: 6,668,381 (GRCm39)	I525F	probably damaging	Het
Fyco1	A	G	9: 123,648,218 (GRCm39)	F1239L	probably damaging	Het
Gcdh	T	C	8: 85,620,071 (GRCm39)		probably benign	Het
Gk5	T	C	9: 96,032,473 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,595,778 (GRCm39)	Y617H	probably benign	Het
Gvin-ps3	A	G	7: 105,683,159 (GRCm39)	V32A	probably benign	Het
Hhipl2	A	T	1: 183,206,042 (GRCm39)	I131L	probably damaging	Het
Larp4b	T	C	13: 9,216,345 (GRCm39)		probably benign	Het
Lrig2	T	A	3: 104,398,227 (GRCm39)	I301F	possibly damaging	Het
Man2a2	A	T	7: 80,012,713 (GRCm39)	I600N	possibly damaging	Het
Mylk2	G	C	2: 152,755,661 (GRCm39)		probably null	Het
Myo6	C	T	9: 80,193,664 (GRCm39)	Q870*	probably null	Het
Napg	T	G	18: 63,127,409 (GRCm39)	H204Q	probably benign	Het
Neb	G	A	2: 52,153,959 (GRCm39)	T2384M	probably damaging	Het
Nek10	A	G	14: 14,931,325 (GRCm38)		probably benign	Het
Or11h23	A	C	14: 50,948,071 (GRCm39)	T95P	probably benign	Het
Or4c111	A	G	2: 88,844,057 (GRCm39)	M117T	probably damaging	Het
Or5an6	T	C	19: 12,372,221 (GRCm39)	V198A	probably benign	Het
Or5b108	T	G	19: 13,168,739 (GRCm39)	L236R	probably damaging	Het
Pclo	A	G	5: 14,572,276 (GRCm39)	T554A	unknown	Het
Perm1	C	A	4: 156,301,771 (GRCm39)	T105K	probably damaging	Het
Pik3r1	T	C	13: 101,822,866 (GRCm39)		probably null	Het
Pld5	A	G	1: 175,872,462 (GRCm39)	I225T	probably damaging	Het
Plxnc1	T	C	10: 94,667,195 (GRCm39)		probably benign	Het
Ptpn12	A	C	5: 21,203,354 (GRCm39)	S475A	possibly damaging	Het
Ptprt	A	G	2: 161,769,692 (GRCm39)	V391A	possibly damaging	Het
Rac2	T	G	15: 78,450,145 (GRCm39)	D65A	possibly damaging	Het
Rgl3	A	G	9: 21,888,676 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sebox	A	T	11: 78,394,675 (GRCm39)	T47S	probably damaging	Het
Sema4b	A	G	7: 79,874,388 (GRCm39)	T593A	probably benign	Het
Serpina3a	C	T	12: 104,082,787 (GRCm39)	Q187*	probably null	Het
Serpinb1a	T	C	13: 33,027,199 (GRCm39)	K248E	probably benign	Het
Serpinb9e	A	C	13: 33,443,757 (GRCm39)	E259A	probably benign	Het
Slc30a3	T	A	5: 31,247,510 (GRCm39)	H44L	probably damaging	Het
Smarca2	T	C	19: 26,748,333 (GRCm39)		probably benign	Het
Snrnp200	T	A	2: 127,078,737 (GRCm39)	C1801S	probably damaging	Het
Soat1	G	A	1: 156,269,944 (GRCm39)		probably null	Het
Spink6	T	C	18: 44,204,605 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,012,256 (GRCm39)	R354H	probably damaging	Het
Tbck	T	A	3: 132,543,733 (GRCm39)	H861Q	probably benign	Het
Tgfbrap1	G	A	1: 43,088,856 (GRCm39)	T849M	possibly damaging	Het
Tnrc6a	A	G	7: 122,769,563 (GRCm39)	N451S	possibly damaging	Het
Trim36	T	C	18: 46,329,318 (GRCm39)	T41A	probably damaging	Het
Trmt112	C	A	19: 6,887,721 (GRCm39)		probably benign	Het
Trpc4ap	A	G	2: 155,486,990 (GRCm39)		probably benign	Het
Ttll7	C	T	3: 146,645,746 (GRCm39)	P535S	probably damaging	Het
Ttn	A	T	2: 76,691,776 (GRCm39)		probably benign	Het
Txndc11	C	T	16: 10,946,364 (GRCm39)	R149Q	probably benign	Het
Ubr4	C	T	4: 139,164,509 (GRCm39)		probably benign	Het
Usp30	G	A	5: 114,241,888 (GRCm39)		probably null	Het
Vmn1r195	A	G	13: 22,463,181 (GRCm39)	Y217C	probably damaging	Het
Vrk2	A	G	11: 26,433,331 (GRCm39)		probably benign	Het
Wdr81	G	T	11: 75,343,809 (GRCm39)	P486Q	probably damaging	Het
Zfp788	T	C	7: 41,297,750 (GRCm39)	Y129H	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
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
R9165:Vps33b	UTSW	7	79,924,434 (GRCm39)	critical splice donor site	probably null
X0018:Vps33b	UTSW	7	79,940,313 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCGCATCTGTTCACACTACG -3'
(R):5'- GGTGTTTGACCACAGCAACAGC -3'

Sequencing Primer
(F):5'- gcccattttattcaccgttgtc -3'
(R):5'- GCTGACTGAGAGCCATGAC -3'

Posted On

2014-01-15