Mutagenetix > Incidental Mutation

Incidental Mutation 'R7691:Rhobtb3'

593413

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb3

Ensembl Gene

ENSMUSG00000021589

Gene Name

Rho-related BTB domain containing 3

Synonyms

4930503C18Rik, 1700040C17Rik, 2610033K01Rik

MMRRC Submission

045755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7691 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76017656-76092044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76027056 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 439 (V439E)

Ref Sequence

ENSEMBL: ENSMUSP00000022078 (fasta)

Gene Model

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

AlphaFold

Q9CTN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000022078
AA Change: V439E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: V439E

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: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

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
Adamts9	A	T	6: 92,773,219 (GRCm39)	C1763S	probably damaging	Het
Adcy3	T	C	12: 4,256,540 (GRCm39)	V782A	probably benign	Het
Arhgef17	G	A	7: 100,578,849 (GRCm39)	R700C	probably damaging	Het
Atxn2l	T	C	7: 126,091,782 (GRCm39)		probably null	Het
Bach2	A	G	4: 32,580,271 (GRCm39)	E832G	probably damaging	Het
Brpf3	G	C	17: 29,025,805 (GRCm39)	A293P	probably damaging	Het
Cacfd1	T	C	2: 26,900,106 (GRCm39)	L36P	probably damaging	Het
Camsap2	T	C	1: 136,220,742 (GRCm39)	E268G	probably damaging	Het
Ccnjl	A	T	11: 43,474,028 (GRCm39)	Q201L	probably benign	Het
Cdan1	A	G	2: 120,560,048 (GRCm39)	V372A	probably damaging	Het
Cenpf	C	A	1: 189,390,404 (GRCm39)	E1143*	probably null	Het
Colgalt1	A	T	8: 72,073,398 (GRCm39)	M340L	probably benign	Het
Crybg3	A	G	16: 59,376,497 (GRCm39)	Y1586H	not run	Het
Csmd3	A	G	15: 47,604,569 (GRCm39)	I1058T		Het
Dock1	G	A	7: 134,739,886 (GRCm39)		probably null	Het
Dzank1	G	A	2: 144,348,091 (GRCm39)	T225I	probably damaging	Het
Eif3c	G	A	7: 126,151,162 (GRCm39)	R721W	possibly damaging	Het
Fdps	A	G	3: 89,006,674 (GRCm39)	V72A	probably benign	Het
Filip1l	A	G	16: 57,392,796 (GRCm39)	N1128S	probably benign	Het
Fmnl2	T	A	2: 52,991,510 (GRCm39)	Y342N	unknown	Het
Gria1	A	T	11: 57,127,813 (GRCm39)	I410F	possibly damaging	Het
Gsdmc4	C	A	15: 63,765,640 (GRCm39)	S303I	probably damaging	Het
Herc2	C	T	7: 55,841,593 (GRCm39)	P3491S	probably benign	Het
Ift25	A	G	4: 107,130,886 (GRCm39)	I59V	probably benign	Het
Lama2	T	C	10: 27,084,389 (GRCm39)	H927R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,534 (GRCm39)	M253T	probably damaging	Het
Ltn1	G	T	16: 87,195,574 (GRCm39)	H1317Q	probably damaging	Het
Map6	C	T	7: 98,985,499 (GRCm39)	L671F	possibly damaging	Het
Mki67	C	T	7: 135,303,721 (GRCm39)	V716I	not run	Het
Mllt10	G	C	2: 18,208,423 (GRCm39)	S694T	probably null	Het
Mllt10	A	G	2: 18,208,422 (GRCm39)	S694G	possibly damaging	Het
Mtcl1	A	G	17: 66,687,352 (GRCm39)	L518S	probably damaging	Het
Or2ad1	G	A	13: 21,327,140 (GRCm39)	A29V	probably benign	Het
Pcdh10	G	T	3: 45,335,632 (GRCm39)	D649Y	probably damaging	Het
Pdgfrb	C	T	18: 61,194,340 (GRCm39)	T39M	probably benign	Het
Pls1	T	C	9: 95,655,726 (GRCm39)	E342G	probably benign	Het
Pon1	C	T	6: 5,175,819 (GRCm39)	V235I	probably benign	Het
Septin8	A	G	11: 53,428,414 (GRCm39)	T355A	probably benign	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Ssc5d	C	T	7: 4,947,168 (GRCm39)	T1174I	probably benign	Het
Sspo	A	T	6: 48,461,163 (GRCm39)	T3535S	probably benign	Het
Stk39	A	G	2: 68,301,983 (GRCm39)	V80A	probably damaging	Het
Sult2b1	T	C	7: 45,384,708 (GRCm39)	I123V	probably benign	Het
Sv2a	A	T	3: 96,095,727 (GRCm39)	I348F	probably benign	Het
Taar8b	T	A	10: 23,967,436 (GRCm39)	R253*	probably null	Het
Tbc1d4	T	C	14: 101,745,077 (GRCm39)	K183R	probably damaging	Het
Tet2	T	A	3: 133,192,610 (GRCm39)	D608V	probably damaging	Het
Tnfsf14	T	A	17: 57,501,024 (GRCm39)	T16S	possibly damaging	Het
Togaram2	A	G	17: 72,023,405 (GRCm39)	T774A	probably benign	Het
Tshr	C	A	12: 91,464,515 (GRCm39)	A87E	probably benign	Het
Tsn	T	C	1: 118,237,505 (GRCm39)	D53G	probably benign	Het
Usp37	TC	T	1: 74,525,919 (GRCm39)		probably null	Het
Vav2	T	A	2: 27,187,750 (GRCm39)		probably null	Het
Vmn2r52	T	A	7: 9,893,109 (GRCm39)	I677F	probably damaging	Het
Vmn2r65	T	A	7: 84,592,851 (GRCm39)	Y452F	probably benign	Het
Vmn2r79	A	G	7: 86,687,111 (GRCm39)	R831G	probably damaging	Het
Zfp821	T	C	8: 110,447,871 (GRCm39)	S71P	probably damaging	Het
Zwilch	T	A	9: 64,063,373 (GRCm39)	I286F	probably benign	Het

Other mutations in Rhobtb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02117:Rhobtb3	APN	13	76,025,547 (GRCm39)	missense	probably damaging	1.00
IGL02142:Rhobtb3	APN	13	76,025,614 (GRCm39)	missense	probably damaging	1.00
IGL02708:Rhobtb3	APN	13	76,065,843 (GRCm39)	missense	probably damaging	0.99
IGL02732:Rhobtb3	APN	13	76,059,056 (GRCm39)	missense	probably damaging	1.00
IGL02969:Rhobtb3	APN	13	76,091,550 (GRCm39)	missense	probably damaging	1.00
R0048:Rhobtb3	UTSW	13	76,050,364 (GRCm39)	makesense	probably null
R0285:Rhobtb3	UTSW	13	76,025,628 (GRCm39)	missense	possibly damaging	0.86
R2233:Rhobtb3	UTSW	13	76,020,484 (GRCm39)	missense	possibly damaging	0.76
R2289:Rhobtb3	UTSW	13	76,059,046 (GRCm39)	missense	probably damaging	0.97
R2332:Rhobtb3	UTSW	13	76,058,971 (GRCm39)	missense	probably benign	0.44
R3684:Rhobtb3	UTSW	13	76,087,600 (GRCm39)	missense	probably damaging	1.00
R4685:Rhobtb3	UTSW	13	76,027,051 (GRCm39)	nonsense	probably null
R5060:Rhobtb3	UTSW	13	76,061,389 (GRCm39)	missense	probably benign
R5374:Rhobtb3	UTSW	13	76,027,014 (GRCm39)	missense	probably damaging	0.98
R5688:Rhobtb3	UTSW	13	76,020,537 (GRCm39)	missense	probably benign	0.01
R6181:Rhobtb3	UTSW	13	76,058,808 (GRCm39)	missense	probably benign	0.05
R6235:Rhobtb3	UTSW	13	76,041,029 (GRCm39)	missense	probably damaging	0.99
R6947:Rhobtb3	UTSW	13	76,058,785 (GRCm39)	missense	probably benign	0.14
R7032:Rhobtb3	UTSW	13	76,020,513 (GRCm39)	missense	probably benign	0.01
R7039:Rhobtb3	UTSW	13	76,020,572 (GRCm39)	nonsense	probably null
R7148:Rhobtb3	UTSW	13	76,059,006 (GRCm39)	missense	probably benign
R7449:Rhobtb3	UTSW	13	76,058,860 (GRCm39)	missense	probably benign	0.14
R7508:Rhobtb3	UTSW	13	76,026,976 (GRCm39)	missense	probably benign	0.00
R7598:Rhobtb3	UTSW	13	76,059,021 (GRCm39)	missense	probably benign	0.00
R7770:Rhobtb3	UTSW	13	76,065,934 (GRCm39)	missense	probably damaging	0.99
R8465:Rhobtb3	UTSW	13	76,087,741 (GRCm39)	missense	probably damaging	1.00
R9098:Rhobtb3	UTSW	13	76,087,702 (GRCm39)	missense	probably damaging	1.00
R9133:Rhobtb3	UTSW	13	76,020,512 (GRCm39)	missense	probably damaging	1.00
R9169:Rhobtb3	UTSW	13	76,041,121 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGATTTCACCGAGAGCAATCTATC -3'
(R):5'- AAGAAGCCTCTGGAGCAATGC -3'

Sequencing Primer
(F):5'- CGAGAGCAATCTATCAAAACGAG -3'
(R):5'- AATGCCAGTTATATCCCCTGTGAGG -3'

Posted On

2019-11-12