Mutagenetix > Incidental Mutation

Incidental Mutation 'R7085:Vps33b'

549826

Institutional Source

Beutler Lab

Gene Symbol

Vps33b

Ensembl Gene

ENSMUSG00000030534

Gene Name

vacuolar protein sorting 33B

Synonyms

MMRRC Submission

045179-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7085 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79919369-79941327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79925837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 95 (I95V)

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: I95V

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: I95V

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135053
AA Change: H74R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000138472
Gene: ENSMUSG00000030534
AA Change: H74R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150585
AA Change: I95V

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138224
Gene: ENSMUSG00000030534
AA Change: I95V

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

Meta Mutation Damage Score

0.1235

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

95% (75/79)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	C	10: 29,100,476 (GRCm39)	L283P	probably damaging	Het
Abhd18	T	C	3: 40,871,344 (GRCm39)	M132T	possibly damaging	Het
Afap1l1	A	G	18: 61,881,885 (GRCm39)	V270A	possibly damaging	Het
Ankrd34a	A	T	3: 96,505,945 (GRCm39)	Q383L	probably benign	Het
Atp8b5	A	G	4: 43,361,835 (GRCm39)	D627G	probably damaging	Het
Atrnl1	T	A	19: 57,680,289 (GRCm39)	C730S	probably damaging	Het
Bclaf1	T	C	10: 20,197,768 (GRCm39)	S4P	unknown	Het
Blzf1	T	C	1: 164,129,893 (GRCm39)	D153G	probably damaging	Het
Btaf1	T	C	19: 36,950,318 (GRCm39)	V516A	probably benign	Het
C1qa	T	C	4: 136,625,091 (GRCm39)	T20A	probably benign	Het
Cacna1e	A	T	1: 154,349,492 (GRCm39)		probably null	Het
Cfd	T	G	10: 79,728,326 (GRCm39)	V229G	probably damaging	Het
Chd3	T	A	11: 69,260,027 (GRCm39)	H64L	unknown	Het
Cntn3	A	G	6: 102,142,362 (GRCm39)	S1002P	possibly damaging	Het
Cntrl	T	A	2: 35,055,804 (GRCm39)	C1786S	probably benign	Het
Cpa1	A	G	6: 30,643,619 (GRCm39)	D355G	probably benign	Het
D130043K22Rik	T	C	13: 25,056,285 (GRCm39)	V539A	possibly damaging	Het
Ddx1	A	C	12: 13,279,356 (GRCm39)	W428G	probably damaging	Het
Ddx49	G	A	8: 70,755,133 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,364,468 (GRCm39)	V4207E	probably benign	Het
Dock3	A	G	9: 106,779,086 (GRCm39)	S288P	probably damaging	Het
Drap1	G	A	19: 5,474,815 (GRCm39)		probably benign	Het
Ecm2	G	A	13: 49,674,378 (GRCm39)	R266K	probably damaging	Het
Emilin2	A	G	17: 71,581,100 (GRCm39)	L542S	probably damaging	Het
Evx1	T	C	6: 52,293,677 (GRCm39)	Y282H	possibly damaging	Het
Fbxo44	T	A	4: 148,243,200 (GRCm39)	H20L	probably damaging	Het
Flot2	G	T	11: 77,948,900 (GRCm39)	A292S	possibly damaging	Het
Fry	A	G	5: 150,362,214 (GRCm39)	I2161V	probably benign	Het
Gli3	T	C	13: 15,889,647 (GRCm39)	F587S	probably damaging	Het
Gm49368	A	G	7: 127,726,029 (GRCm39)	D1147G	unknown	Het
Gprc5b	A	T	7: 118,582,855 (GRCm39)	M338K	probably damaging	Het
H1f11-ps	A	G	19: 47,159,101 (GRCm39)	V158A	unknown	Het
Hacd3	A	C	9: 64,905,525 (GRCm39)	N204K	probably damaging	Het
Hsd3b9	T	C	3: 98,357,710 (GRCm39)	N101D	probably damaging	Het
Hydin	A	G	8: 111,329,962 (GRCm39)	T4899A	probably benign	Het
Ido2	T	A	8: 25,048,212 (GRCm39)	R49S	probably benign	Het
Igsf3	C	A	3: 101,362,805 (GRCm39)	T942K	probably benign	Het
Kank4	T	A	4: 98,668,183 (GRCm39)	Q88L	probably benign	Het
Krtap16-1	T	A	11: 99,877,111 (GRCm39)	I98F	possibly damaging	Het
Laptm4a	T	C	12: 8,972,113 (GRCm39)	V52A	probably benign	Het
Lmbr1	A	T	5: 29,566,090 (GRCm39)		probably null	Het
Lnx1	G	A	5: 74,788,846 (GRCm39)	S31F	possibly damaging	Het
Mafa	G	T	15: 75,619,536 (GRCm39)	A79E	unknown	Het
Me2	A	T	18: 73,914,129 (GRCm39)	N467K	probably damaging	Het
Med23	T	A	10: 24,746,019 (GRCm39)	L8Q	probably damaging	Het
Muc16	T	A	9: 18,556,145 (GRCm39)	I3383F	unknown	Het
Nbas	G	T	12: 13,335,259 (GRCm39)	S151I	probably damaging	Het
Or10ag60	T	A	2: 87,437,750 (GRCm39)	I6N	probably benign	Het
Or10d5j	C	A	9: 39,867,808 (GRCm39)	C141F	probably damaging	Het
Or13c25	C	T	4: 52,910,961 (GRCm39)	A278T	probably benign	Het
Or6k6	T	A	1: 173,945,226 (GRCm39)	I119F	probably damaging	Het
Or7d11	G	A	9: 19,966,232 (GRCm39)	H58Y	probably benign	Het
Piezo1	A	G	8: 123,217,633 (GRCm39)	V1305A		Het
Plcb3	T	C	19: 6,937,501 (GRCm39)	E639G	possibly damaging	Het
Polr2a	A	G	11: 69,634,706 (GRCm39)	L658P	probably damaging	Het
Prag1	A	T	8: 36,571,391 (GRCm39)	Q658L	possibly damaging	Het
Prex2	A	T	1: 11,168,812 (GRCm39)	R269S	possibly damaging	Het
Reln	C	A	5: 22,120,085 (GRCm39)	G2856*	probably null	Het
Rsph10b	A	T	5: 143,886,102 (GRCm39)	T267S	possibly damaging	Het
Rtn4rl1	A	G	11: 75,156,050 (GRCm39)	I161V	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sbno1	G	A	5: 124,519,783 (GRCm39)	P1165L	possibly damaging	Het
Scn3b	T	C	9: 40,188,394 (GRCm39)	V29A	probably damaging	Het
Sh3d21	T	A	4: 126,056,884 (GRCm39)	T13S	probably benign	Het
Shisal2b	G	T	13: 104,994,814 (GRCm39)	T111K	probably benign	Het
Slc22a22	G	A	15: 57,113,045 (GRCm39)	T398I	probably benign	Het
Slc40a1	T	A	1: 45,950,688 (GRCm39)	T255S	probably benign	Het
Smchd1	A	T	17: 71,672,214 (GRCm39)		probably null	Het
Soat1	A	T	1: 156,259,901 (GRCm39)	V480D	probably damaging	Het
Spata31e2	A	G	1: 26,722,546 (GRCm39)	L878P	possibly damaging	Het
Supt5	T	A	7: 28,030,914 (GRCm39)	E39V	unknown	Het
Tapbpl	T	C	6: 125,203,451 (GRCm39)		probably null	Het
Tdpoz7	T	A	3: 93,979,939 (GRCm39)	M5L	probably benign	Het
Tlr11	A	T	14: 50,600,113 (GRCm39)	I700F	probably damaging	Het
Tmc3	A	T	7: 83,271,353 (GRCm39)	K864M	possibly damaging	Het
Tns1	G	A	1: 73,964,621 (GRCm39)	P81S	probably benign	Het
Tspan2	C	A	3: 102,668,270 (GRCm39)	L168I	probably benign	Het
Unc13d	C	A	11: 115,955,633 (GRCm39)	S885I	probably benign	Het
Unc45a	A	T	7: 79,976,082 (GRCm39)	M799K	possibly damaging	Het
Usp34	A	G	11: 23,313,097 (GRCm39)	D547G		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
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'- TGTGGAAGCTCAGATCTGCAG -3'
(R):5'- AAGATGCCTTCCTGATGCC -3'

Sequencing Primer
(F):5'- AGATCTGCAGGCCTGGTCAAG -3'
(R):5'- CGCTCACTAAGTAAGATCTTGCG -3'

Posted On

2019-05-15