Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Rab33b'

480599

Institutional Source

Beutler Lab

Gene Symbol

Rab33b

Ensembl Gene

ENSMUSG00000027739

Gene Name

RAB33B, member RAS oncogene family

Synonyms

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R5997 (G1)

Quality Score

203.009

Status

Validated

Chromosome

Chromosomal Location

51391387-51403649 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51391900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 50 (T50A)

Ref Sequence

ENSEMBL: ENSMUSP00000142215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054387] [ENSMUST00000192172]

AlphaFold

O35963

Predicted Effect

probably benign
Transcript: ENSMUST00000054387
AA Change: T50A

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000063054
Gene: ENSMUSG00000027739
AA Change: T50A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000192172
AA Change: T50A

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142215
Gene: ENSMUSG00000027739
AA Change: T50A

Domain	Start	End	E-Value	Type
low complexity region	6	26	N/A	INTRINSIC
Pfam:Ras	35	65	7.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195715

Meta Mutation Damage Score

0.1414

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Fktn	A	G	4: 53,735,061 (GRCm39)	H233R	probably benign	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	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
R3151:Rab33b	UTSW	3	51,401,069 (GRCm39)	missense	possibly damaging	0.83
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
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'- CGTTTGTCACTGCTAGGGAG -3'
(R):5'- GGAACAATGCCTCAGAAGTTTG -3'

Sequencing Primer
(F):5'- TGGCGTGGCGTCATTCC -3'
(R):5'- CAATGCCTCAGAAGTTTGATAGATAC -3'

Posted On

2017-06-26