Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:Rab33b'

264386

Institutional Source

Beutler Lab

Gene Symbol

Rab33b

Ensembl Gene

ENSMUSG00000027739

Gene Name

RAB33B, member RAS oncogene family

Synonyms

MMRRC Submission

040603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51391387-51403649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51401069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 181 (N181I)

Ref Sequence

ENSEMBL: ENSMUSP00000063054 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054387]

AlphaFold

O35963

PDB Structure

GppNHp-Bound Rab33 GTPase [X-RAY DIFFRACTION]
Crystal Structure of Gyp1 TBC domain in complex with Rab33 GTPase bound to GDP and AlF3 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054387
AA Change: N181I

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: N181I

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
RAB	34	202	1.94e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195131

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195715

Meta Mutation Damage Score

0.0829

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a small GTP-binding protein of the Rab GTPase family, whose members function in vesicle transport during protein secretion and endocytosis. Rab GTPases are active, membrane-associated proteins that recruit effector proteins in the GTP-bound state and inactive cytosolic proteins when in a GDP-bound state. The protein encoded by this gene is ubiquitously expressed and has been implicated in Golgi to endoplasmic reticulum cycling of Golgi enzymes. In addition, this protein regulates Golgi homeostasis and coordinates intra-Golgi retrograde trafficking. Allelic variants in this gene have been associated with Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia 2, which are autosomal recessive spondyloepimetaphyseal dysplasias characterized by skeletal abnormalities. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Echdc1	A	G	10: 29,198,360 (GRCm39)	T102A	possibly damaging	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
F2rl2	G	A	13: 95,837,638 (GRCm39)	V228I	probably benign	Het
Fads3	T	G	19: 10,035,262 (GRCm39)	S438A	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or12j2	A	T	7: 139,916,243 (GRCm39)	H156L	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Serpinb7	A	T	1: 107,363,081 (GRCm39)	R82*	probably null	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	probably benign	Het

Other mutations in Rab33b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02756:Rab33b	APN	3	51,391,945 (GRCm39)	missense	probably damaging	1.00
R0012:Rab33b	UTSW	3	51,391,737 (GRCm39)	start gained	probably benign
R0690:Rab33b	UTSW	3	51,400,838 (GRCm39)	missense	probably damaging	1.00
R1027:Rab33b	UTSW	3	51,391,876 (GRCm39)	missense	probably damaging	1.00
R5259:Rab33b	UTSW	3	51,392,033 (GRCm39)	unclassified	probably benign
R5387:Rab33b	UTSW	3	51,400,876 (GRCm39)	missense	probably damaging	1.00
R5650:Rab33b	UTSW	3	51,400,837 (GRCm39)	missense	probably damaging	1.00
R5997:Rab33b	UTSW	3	51,391,900 (GRCm39)	missense	possibly damaging	0.80
R6318:Rab33b	UTSW	3	51,400,826 (GRCm39)	missense	probably damaging	0.99
R6640:Rab33b	UTSW	3	51,391,900 (GRCm39)	missense	possibly damaging	0.80
R8443:Rab33b	UTSW	3	51,401,050 (GRCm39)	missense	probably damaging	1.00
R8493:Rab33b	UTSW	3	51,391,795 (GRCm39)	missense	probably benign	0.18
R9315:Rab33b	UTSW	3	51,401,000 (GRCm39)	missense	probably damaging	0.97
Z1177:Rab33b	UTSW	3	51,391,755 (GRCm39)	start codon destroyed	probably null	0.01

Predicted Primers

PCR Primer
(F):5'- ACAGGAATGTGCATGCTGTC -3'
(R):5'- GCAATGGCCACACCTATGAC -3'

Sequencing Primer
(F):5'- CGTCTTTGTGTATGACATGACCAAC -3'
(R):5'- TGGCCACACCTATGACTCAGC -3'

Posted On

2015-02-05