Mutagenetix > Incidental Mutations

Incidental Mutation 'R7508:Rhobtb3'

581916

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb3

Ensembl Gene

ENSMUSG00000021589

Gene Name

Rho-related BTB domain containing 3

Synonyms

2610033K01Rik, 4930503C18Rik, 1700040C17Rik

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_028493.2; MGI:1920546

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R7508 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75869537-75943925 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75878857 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 466 (V466I)

Ref Sequence

ENSEMBL: ENSMUSP00000022078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022078]

Predicted Effect

probably benign
Transcript: ENSMUST00000022078
AA Change: V466I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: V466I

Domain	Start	End	E-Value	Type
Pfam:Ras	47	195	9e-7	PFAM
Blast:BTB	254	406	2e-95	BLAST
BTB	420	518	3.12e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220939

Predicted Effect

probably benign
Transcript: ENSMUST00000222923

Coding Region Coverage

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

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality, reduced body weight and slightly reduced organ weights that varies by sex. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	C	T	5: 50,016,867	A110T	probably benign	Het
Adra1a	A	C	14: 66,637,935	I120L	probably damaging	Het
Ahnak2	C	T	12: 112,774,405	V1078I	possibly damaging	Het
Ccser1	A	G	6: 61,570,723	H590R	probably benign	Het
Cdh12	T	G	15: 21,583,765	L564V	probably benign	Het
Celsr3	T	A	9: 108,836,622	H1900Q	probably benign	Het
Clasp1	T	A	1: 118,545,434	M918K	probably benign	Het
Cmtm6	A	G	9: 114,731,240	E2G	probably damaging	Het
Ctsg	A	G	14: 56,100,541		probably null	Het
Cylc2	T	A	4: 51,229,256		probably null	Het
Dna2	A	G	10: 62,971,993		probably null	Het
Dnaic1	G	A	4: 41,614,323	R333H	probably benign	Het
Egln3	T	C	12: 54,180,628	D239G	probably benign	Het
Fam13a	A	T	6: 58,987,284	D54E	probably damaging	Het
Fn1	A	G	1: 71,597,516	V2159A	probably benign	Het
Gcnt2	T	A	13: 40,887,681	F105L	probably benign	Het
Gm5788	T	C	12: 87,494,842	M41T	possibly damaging	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Hacd4	A	G	4: 88,437,478	F57L	probably benign	Het
Helb	T	C	10: 120,105,283	D500G	probably benign	Het
Ighv1-26	G	A	12: 114,788,442	S94F	probably damaging	Het
Kirrel	T	C	3: 87,083,439	D692G	possibly damaging	Het
Klra7	A	T	6: 130,230,091		probably null	Het
Lyl1	T	C	8: 84,704,300	V277A	probably benign	Het
Mon2	A	C	10: 123,023,939	W811G	probably damaging	Het
Myo9b	T	C	8: 71,354,801	L1627P	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Odf4	A	T	11: 68,922,423	C218S	possibly damaging	Het
Olfr1038-ps	A	G	2: 86,121,938	N5S	possibly damaging	Het
Olfr11	T	A	13: 21,638,609	I305F	probably benign	Het
Pde5a	A	G	3: 122,818,030	D571G	probably damaging	Het
Pgc	A	G	17: 47,734,186	E343G	probably benign	Het
Pik3cd	A	G	4: 149,654,583	F667L	possibly damaging	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Ptprb	C	T	10: 116,353,991	Q1565*	probably null	Het
Rapgef4	T	A	2: 72,205,733	N523K	probably benign	Het
Rbm25	T	C	12: 83,672,877	L557P	probably damaging	Het
Rnpep	A	G	1: 135,278,858	V166A	probably benign	Het
Sgo2a	A	G	1: 58,017,795	K1046R	probably benign	Het
Slc12a2	T	C	18: 57,904,393	V525A	probably benign	Het
Slc1a4	A	T	11: 20,306,487	I448N	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Slc9a5	T	A	8: 105,363,253		probably null	Het
Spag16	A	T	1: 69,887,520	N258I	possibly damaging	Het
Sspo	T	A	6: 48,466,699	L2076Q	probably damaging	Het
Taok1	T	A	11: 77,545,326	H704L	probably damaging	Het
Tbc1d9b	T	C	11: 50,145,120	F148L	probably damaging	Het
Tm4sf1	A	G	3: 57,294,755	Y12H	probably benign	Het
Traj6	C	T	14: 54,212,714	T9M		Het
Ttll4	A	G	1: 74,687,259	N672S	possibly damaging	Het
Ube3a	T	A	7: 59,303,689	H790Q	possibly damaging	Het
Usp49	G	A	17: 47,672,280	R70Q	probably benign	Het
Vmn2r32	C	T	7: 7,467,374	V515M	possibly damaging	Het
Wars	A	G	12: 108,882,875	S49P	probably benign	Het
Zbp1	T	A	2: 173,207,811	Q386L	possibly damaging	Het
Zfp369	T	C	13: 65,279,273	F10S	unknown	Het
Zfp512	C	G	5: 31,473,539	I408M	possibly damaging	Het
Zfp952	A	G	17: 33,003,782	I412V	probably benign	Het

Other mutations in Rhobtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02117:Rhobtb3	APN	13	75877428	missense	probably damaging	1.00
IGL02142:Rhobtb3	APN	13	75877495	missense	probably damaging	1.00
IGL02708:Rhobtb3	APN	13	75917724	missense	probably damaging	0.99
IGL02732:Rhobtb3	APN	13	75910937	missense	probably damaging	1.00
IGL02969:Rhobtb3	APN	13	75943431	missense	probably damaging	1.00
R0048:Rhobtb3	UTSW	13	75902245	makesense	probably null
R0285:Rhobtb3	UTSW	13	75877509	missense	possibly damaging	0.86
R2233:Rhobtb3	UTSW	13	75872365	missense	possibly damaging	0.76
R2289:Rhobtb3	UTSW	13	75910927	missense	probably damaging	0.97
R2332:Rhobtb3	UTSW	13	75910852	missense	probably benign	0.44
R3684:Rhobtb3	UTSW	13	75939481	missense	probably damaging	1.00
R4685:Rhobtb3	UTSW	13	75878932	nonsense	probably null
R5060:Rhobtb3	UTSW	13	75913270	missense	probably benign
R5374:Rhobtb3	UTSW	13	75878895	missense	probably damaging	0.98
R5688:Rhobtb3	UTSW	13	75872418	missense	probably benign	0.01
R6181:Rhobtb3	UTSW	13	75910689	missense	probably benign	0.05
R6235:Rhobtb3	UTSW	13	75892910	missense	probably damaging	0.99
R6947:Rhobtb3	UTSW	13	75910666	missense	probably benign	0.14
R7032:Rhobtb3	UTSW	13	75872394	missense	probably benign	0.01
R7039:Rhobtb3	UTSW	13	75872453	nonsense	probably null
R7148:Rhobtb3	UTSW	13	75910887	missense	probably benign
R7449:Rhobtb3	UTSW	13	75910741	missense	probably benign	0.14
R7598:Rhobtb3	UTSW	13	75910902	missense	probably benign	0.00
R7691:Rhobtb3	UTSW	13	75878937	missense	probably damaging	0.99
R7770:Rhobtb3	UTSW	13	75917815	missense	probably damaging	0.99
R8465:Rhobtb3	UTSW	13	75939622	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGAGAATGCAATGTTCTCCC -3'
(R):5'- GAACACGCTTGGAACTCTACAG -3'

Sequencing Primer
(F):5'- TGCTCAGCAAATGCCACGG -3'
(R):5'- CACGCTTGGAACTCTACAGTATTAC -3'

Posted On

2019-10-17