Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Vps33b'

680365

Institutional Source

Beutler Lab

Gene Symbol

Vps33b

Ensembl Gene

ENSMUSG00000030534

Gene Name

vacuolar protein sorting 33B

Synonyms

MMRRC Submission

068776-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79919369-79941327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79932241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 138 (C138R)

Ref Sequence

ENSEMBL: ENSMUSP00000032749 (fasta)

Gene Model

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

AlphaFold

P59016

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032749
AA Change: C138R

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: C138R

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

unknown
Transcript: ENSMUST00000150585
AA Change: L143P

SMART Domains

Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534
AA Change: L143P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,629,693 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,402 (GRCm39)	T435A	probably damaging	Het
Adamtsl3	C	T	7: 82,261,069 (GRCm39)	P29S		Het
Ass1	T	A	2: 31,382,387 (GRCm39)	M186K	probably damaging	Het
Bckdk	A	G	7: 127,507,182 (GRCm39)	D312G	probably benign	Het
Btg3	T	A	16: 78,170,298 (GRCm39)	N3I	probably benign	Het
Cd163	T	C	6: 124,294,882 (GRCm39)	F649L	probably damaging	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,110,780 (GRCm39)	V27E	probably damaging	Het
Col12a1	A	T	9: 79,580,665 (GRCm39)	S1512T	probably benign	Het
Cstf1	A	G	2: 172,217,623 (GRCm39)	T79A	probably benign	Het
Defa24	T	C	8: 22,225,373 (GRCm39)	Y88H	probably benign	Het
Dgkz	C	T	2: 91,769,915 (GRCm39)	R389Q	probably damaging	Het
Dsg3	T	A	18: 20,672,718 (GRCm39)	D796E	probably damaging	Het
Dyrk3	G	T	1: 131,057,293 (GRCm39)	D293E	probably damaging	Het
Epb42	T	C	2: 120,854,767 (GRCm39)	D606G	probably benign	Het
Erich5	G	A	15: 34,453,844 (GRCm39)	G18S	probably benign	Het
Fam8a1	C	T	13: 46,827,868 (GRCm39)	T352M	probably benign	Het
Fastkd3	T	A	13: 68,731,835 (GRCm39)	L52Q	probably benign	Het
Fat3	G	A	9: 15,910,819 (GRCm39)	H1728Y	probably benign	Het
Fgl1	A	G	8: 41,662,868 (GRCm39)	V39A	probably benign	Het
Gm7298	T	C	6: 121,742,030 (GRCm39)	V484A	probably benign	Het
Gpr75	A	G	11: 30,842,571 (GRCm39)	Q492R	possibly damaging	Het
Hoxc8	A	G	15: 102,899,318 (GRCm39)	H36R	possibly damaging	Het
Insyn2a	A	G	7: 134,500,881 (GRCm39)	I408T	probably damaging	Het
Insyn2b	T	C	11: 34,352,707 (GRCm39)	S250P	probably benign	Het
Isy1	T	C	6: 87,798,513 (GRCm39)	I214V	probably damaging	Het
Kdm5b	C	T	1: 134,544,010 (GRCm39)	P853L	probably damaging	Het
Man2b1	A	G	8: 85,822,022 (GRCm39)	T746A	probably damaging	Het
Mki67	A	G	7: 135,300,628 (GRCm39)	S1469P	possibly damaging	Het
Mrps30	C	T	13: 118,523,695 (GRCm39)	A26T	probably benign	Het
Mup10	T	A	4: 60,536,708 (GRCm39)	T92S	possibly damaging	Het
Otud7a	A	G	7: 63,407,239 (GRCm39)	D514G	possibly damaging	Het
Pacs1	T	A	19: 5,185,030 (GRCm39)	S932C	probably damaging	Het
Pbx2	C	T	17: 34,813,563 (GRCm39)	R188C	probably damaging	Het
Pclo	C	T	5: 14,762,989 (GRCm39)	P536S	possibly damaging	Het
Pdxdc1	A	T	16: 13,672,269 (GRCm39)	I377N	probably damaging	Het
Phip	T	C	9: 82,789,041 (GRCm39)	K758E	possibly damaging	Het
Pramel34	T	G	5: 93,785,944 (GRCm39)	D112A	probably benign	Het
Ptprm	C	T	17: 67,263,846 (GRCm39)	R467H	probably benign	Het
Rbm12b1	C	T	4: 12,145,689 (GRCm39)	R554C	probably benign	Het
Scnn1b	C	T	7: 121,502,067 (GRCm39)	R242C	probably damaging	Het
Seh1l	T	C	18: 67,908,134 (GRCm39)	S19P	possibly damaging	Het
Slc28a1	T	A	7: 80,817,715 (GRCm39)	V528D	probably benign	Het
Slc6a17	G	T	3: 107,379,507 (GRCm39)	Q554K	probably benign	Het
Spag16	G	A	1: 70,338,928 (GRCm39)		probably null	Het
Spata31d1e	C	T	13: 59,890,015 (GRCm39)	E184K	possibly damaging	Het
Srfbp1	T	A	18: 52,623,117 (GRCm39)	N377K	possibly damaging	Het
Stap2	A	G	17: 56,304,895 (GRCm39)	S296P	probably benign	Het
Tnr	A	T	1: 159,740,359 (GRCm39)	I1178F	probably damaging	Het
Tomt	C	T	7: 101,550,350 (GRCm39)	A139T	probably damaging	Het
Trak2	T	C	1: 58,974,967 (GRCm39)	Q75R	probably benign	Het
Tulp1	T	C	17: 28,583,468 (GRCm39)	K58E	probably benign	Het
Utp6	A	G	11: 79,834,055 (GRCm39)		probably null	Het
Vmn1r21	T	C	6: 57,820,998 (GRCm39)	T149A	probably benign	Het
Vmn1r238	C	T	18: 3,123,127 (GRCm39)	V96M	probably benign	Het
Vmn1r9	T	A	6: 57,048,666 (GRCm39)	I247N	probably damaging	Het
Wnk1	A	T	6: 119,940,226 (GRCm39)	V837E	probably damaging	Het
Xirp2	C	T	2: 67,312,707 (GRCm39)	H59Y	possibly damaging	Het
Zbtb38	G	T	9: 96,568,434 (GRCm39)	D883E	probably benign	Het
Zbtb7a	C	A	10: 80,980,368 (GRCm39)	D187E	probably benign	Het
Zfp511	T	C	7: 139,617,442 (GRCm39)	V148A	probably damaging	Het
Zfp52	A	G	17: 21,780,692 (GRCm39)	D180G	possibly 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
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'- TTCTATGACTGTATTAGACACCCC -3'
(R):5'- CAACCTGTAGCCTTCATCTGTG -3'

Sequencing Primer
(F):5'- TGTATTAGACACCCCTTAAAGACAG -3'
(R):5'- AACCTGTAGCCTTCATCTGTGAAATC -3'

Posted On

2021-08-31