Mutagenetix > Incidental Mutation

Incidental Mutation 'R9065:Vps33b'

689202

Institutional Source

Beutler Lab

Gene Symbol

Vps33b

Ensembl Gene

ENSMUSG00000030534

Gene Name

vacuolar protein sorting 33B

Synonyms

MMRRC Submission

068890-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9065 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79919369-79941327 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79935339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 356 (T356A)

Ref Sequence

ENSEMBL: ENSMUSP00000032749 (fasta)

Gene Model

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

AlphaFold

P59016

Predicted Effect

probably damaging
Transcript: ENSMUST00000032749
AA Change: T356A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032749
Gene: ENSMUSG00000030534
AA Change: T356A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205864

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	C	5: 113,323,084 (GRCm39)	N1472S	probably benign	Het
4930447C04Rik	C	A	12: 72,939,604 (GRCm39)	Q435H	possibly damaging	Het
Aass	G	T	6: 23,075,746 (GRCm39)	A797E	probably benign	Het
Ap3b1	T	A	13: 94,608,223 (GRCm39)	Y565N	probably damaging	Het
Arid2	A	G	15: 96,269,372 (GRCm39)	T1162A	probably benign	Het
Atp11b	T	C	3: 35,887,131 (GRCm39)		probably null	Het
Card11	G	A	5: 140,894,297 (GRCm39)	P111S	probably damaging	Het
Ccdc66	T	A	14: 27,213,850 (GRCm39)	E328D	probably damaging	Het
Cldn8	T	A	16: 88,359,902 (GRCm39)	M8L	probably benign	Het
Cnot9	T	A	1: 74,558,142 (GRCm39)	L96*	probably null	Het
Cntnap5c	T	A	17: 58,445,642 (GRCm39)	C561S	probably damaging	Het
Dnah5	A	G	15: 28,293,936 (GRCm39)	D1347G	probably benign	Het
Epb41	A	G	4: 131,682,888 (GRCm39)	V390A		Het
Ephb6	C	T	6: 41,590,293 (GRCm39)	A15V	probably benign	Het
Eps15l1	G	T	8: 73,145,762 (GRCm39)	S157*	probably null	Het
Ercc6l2	A	G	13: 63,967,866 (GRCm39)	I155M	possibly damaging	Het
Esco1	G	T	18: 10,594,005 (GRCm39)	T427K	probably benign	Het
Fignl1	C	T	11: 11,752,692 (GRCm39)	C121Y	possibly damaging	Het
Flrt2	A	G	12: 95,746,177 (GRCm39)	S172G	probably damaging	Het
Frmd3	A	T	4: 74,063,269 (GRCm39)		probably null	Het
Fuz	C	T	7: 44,546,721 (GRCm39)	R119W	probably damaging	Het
Gtf2ird2	T	G	5: 134,225,407 (GRCm39)	I165S	probably damaging	Het
Itih1	T	A	14: 30,657,833 (GRCm39)	I417F	probably damaging	Het
Jarid2	G	T	13: 44,994,326 (GRCm39)	V13L		Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Lpp	T	A	16: 24,580,889 (GRCm39)	W327R	probably benign	Het
Msrb2	T	A	2: 19,383,041 (GRCm39)	F56I	possibly damaging	Het
Muc16	A	G	9: 18,554,305 (GRCm39)	I3996T	unknown	Het
Myh4	C	A	11: 67,139,573 (GRCm39)	A630E	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Oacyl	T	A	18: 65,840,484 (GRCm39)	F85Y	probably damaging	Het
Or5ac24	C	T	16: 59,165,530 (GRCm39)	C178Y	probably damaging	Het
Or5b118	T	A	19: 13,448,670 (GRCm39)	I70N	probably damaging	Het
Or6c69b	T	A	10: 129,626,727 (GRCm39)	I244F	possibly damaging	Het
Pcdha11	A	C	18: 37,139,877 (GRCm39)	E502A	possibly damaging	Het
Pcnx3	T	C	19: 5,717,582 (GRCm39)	E1509G	possibly damaging	Het
Pfkm	A	T	15: 98,021,680 (GRCm39)	S314C	probably damaging	Het
Plch1	T	C	3: 63,674,924 (GRCm39)	H230R	probably damaging	Het
Ppfia4	A	T	1: 134,251,893 (GRCm39)	V427E	possibly damaging	Het
Ppox	TCTTATACCTGGAC	TC	1: 171,105,447 (GRCm39)		probably benign	Het
Prr11	G	A	11: 86,992,249 (GRCm39)	P209S	probably damaging	Het
Prrc2b	C	A	2: 32,109,304 (GRCm39)	Q1690K	probably damaging	Het
Rgs3	A	T	4: 62,620,465 (GRCm39)	M564L	probably benign	Het
Sec24d	T	C	3: 123,149,452 (GRCm39)	Y820H	probably damaging	Het
Six4	A	C	12: 73,159,498 (GRCm39)	I154S	possibly damaging	Het
Spata31e4	A	T	13: 50,856,276 (GRCm39)	H638L	probably benign	Het
Spock3	A	G	8: 63,801,989 (GRCm39)	K323E	probably damaging	Het
Stmn4	A	T	14: 66,596,126 (GRCm39)		probably null	Het
Tafa2	A	G	10: 123,429,421 (GRCm39)	K12E	probably benign	Het
Tanc2	C	T	11: 105,689,518 (GRCm39)	R227*	probably null	Het
Tcp1	T	A	17: 13,139,210 (GRCm39)	V179D	probably damaging	Het
Trmt5	A	T	12: 73,328,038 (GRCm39)	F388L	probably damaging	Het
Tsc2	G	T	17: 24,822,164 (GRCm39)	P1126H	probably benign	Het
Ttn	T	A	2: 76,612,720 (GRCm39)	I17120F	probably damaging	Het
Ttn	T	G	2: 76,778,270 (GRCm39)	K1372N	unknown	Het
U2surp	T	C	9: 95,359,563 (GRCm39)	T652A	probably benign	Het
Utp20	A	G	10: 88,592,972 (GRCm39)	V2239A	probably benign	Het
Vwf	C	A	6: 125,623,262 (GRCm39)	H1786Q		Het
Wwox	A	G	8: 115,215,682 (GRCm39)	I152V	probably benign	Het
Ythdc2	A	G	18: 44,977,418 (GRCm39)	T405A	probably benign	Het
Zfpm2	A	T	15: 40,962,712 (GRCm39)	I257F	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
R8932:Vps33b	UTSW	7	79,932,241 (GRCm39)	missense	possibly damaging	0.89
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'- GAGATTCTCGCTCTCTTGGC -3'
(R):5'- AAAACAGCCATTCCTGGAGATC -3'

Sequencing Primer
(F):5'- GGCATCGTCCTACTTGATTTAAAATG -3'
(R):5'- TCCTGGAGATCAACTTAGCTGAG -3'

Posted On

2021-11-19