Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Rhobtb1'

189434

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69151434-69291791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69270279 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 287 (T287A)

Ref Sequence

ENSEMBL: ENSMUSP00000132068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000168117]

AlphaFold

Q9DAK3

Predicted Effect

probably damaging
Transcript: ENSMUST00000020101
AA Change: T287A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: T287A

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000067908
AA Change: T287A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: T287A

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163497

SMART Domains

Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	96	1.8e-5	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164034
AA Change: T287A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: T287A

Domain	Start	End	E-Value	Type
RHO	17	210	5.8e-34	SMART
low complexity region	225	246	N/A	INTRINSIC
BTB	266	456	6.29e-13	SMART
BTB	484	582	9.03e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164876

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167384
AA Change: T225A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: T225A

Domain	Start	End	E-Value	Type
PDB:3RYT\|C	10	97	8e-6	PDB
SCOP:d1ky3a_	15	150	8e-16	SMART
Blast:RHO	17	99	5e-50	BLAST
low complexity region	163	184	N/A	INTRINSIC
BTB	204	394	6.29e-13	SMART
BTB	422	520	9.03e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168117

SMART Domains

Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:Ras	16	97	1.9e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169569

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Rho family of the small GTPase superfamily. It contains a GTPase domain, a proline-rich region, a tandem of 2 BTB (broad complex, tramtrack, and bric-a-brac) domains, and a conserved C-terminal region. The protein plays a role in small GTPase-mediated signal transduction and the organization of the actin filament system. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Fbln1	G	A	15: 85,227,106	V154I	probably benign	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	probably benign	Het

Other mutations in Rhobtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Rhobtb1	APN	10	69270221	missense	probably damaging	1.00
IGL01504:Rhobtb1	APN	10	69249698	missense	probably damaging	1.00
IGL01561:Rhobtb1	APN	10	69270391	missense	probably benign	0.17
IGL01924:Rhobtb1	APN	10	69270304	missense	probably damaging	1.00
IGL02252:Rhobtb1	APN	10	69249685	missense	probably damaging	1.00
IGL02334:Rhobtb1	APN	10	69285678	splice site	probably benign
IGL02393:Rhobtb1	APN	10	69288987	missense	probably damaging	1.00
IGL02514:Rhobtb1	APN	10	69289641	missense	probably benign	0.00
IGL03192:Rhobtb1	APN	10	69248823	missense	probably damaging	1.00
R1713:Rhobtb1	UTSW	10	69272771	missense	probably benign	0.05
R1713:Rhobtb1	UTSW	10	69272772	missense	possibly damaging	0.61
R1750:Rhobtb1	UTSW	10	69279406	missense	probably damaging	1.00
R2044:Rhobtb1	UTSW	10	69272863	splice site	probably benign
R2312:Rhobtb1	UTSW	10	69270463	nonsense	probably null
R2402:Rhobtb1	UTSW	10	69270424	missense	probably benign	0.00
R3815:Rhobtb1	UTSW	10	69285693	missense	possibly damaging	0.75
R4633:Rhobtb1	UTSW	10	69249613	splice site	probably null
R4737:Rhobtb1	UTSW	10	69279497	critical splice donor site	probably null
R4780:Rhobtb1	UTSW	10	69270153	missense	probably benign	0.02
R4865:Rhobtb1	UTSW	10	69270724	missense	probably benign	0.04
R5124:Rhobtb1	UTSW	10	69269901	critical splice acceptor site	probably null
R5248:Rhobtb1	UTSW	10	69248785	missense	probably damaging	1.00
R5304:Rhobtb1	UTSW	10	69269912	missense	probably damaging	1.00
R5480:Rhobtb1	UTSW	10	69270733	missense	possibly damaging	0.86
R5836:Rhobtb1	UTSW	10	69269989	missense	probably damaging	1.00
R5951:Rhobtb1	UTSW	10	69270255	missense	probably damaging	0.99
R6218:Rhobtb1	UTSW	10	69270456	missense	probably benign	0.00
R6629:Rhobtb1	UTSW	10	69270316	missense	possibly damaging	0.92
R6869:Rhobtb1	UTSW	10	69270226	missense	probably damaging	0.99
R7081:Rhobtb1	UTSW	10	69266297	missense	probably benign	0.29
R7260:Rhobtb1	UTSW	10	69270780	nonsense	probably null
R7427:Rhobtb1	UTSW	10	69248824	missense	probably damaging	1.00
R7428:Rhobtb1	UTSW	10	69248824	missense	probably damaging	1.00
R8054:Rhobtb1	UTSW	10	69248890	missense	probably damaging	1.00
R8139:Rhobtb1	UTSW	10	69266290	missense	probably damaging	1.00
R8144:Rhobtb1	UTSW	10	69289558	missense	possibly damaging	0.89
R8712:Rhobtb1	UTSW	10	69270757	missense	probably damaging	1.00
R8723:Rhobtb1	UTSW	10	69270271	missense	probably damaging	1.00
R9116:Rhobtb1	UTSW	10	69270749	missense	probably damaging	1.00
R9122:Rhobtb1	UTSW	10	69270823	missense	probably damaging	1.00
R9216:Rhobtb1	UTSW	10	69272798	missense	probably benign	0.22
R9409:Rhobtb1	UTSW	10	69270387	missense	probably benign	0.09
R9486:Rhobtb1	UTSW	10	69270791	missense	probably damaging	1.00
R9628:Rhobtb1	UTSW	10	69270823	missense	probably damaging	1.00
R9764:Rhobtb1	UTSW	10	69279372	missense	probably damaging	0.98
Z1176:Rhobtb1	UTSW	10	69289551	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGTTCGACAATGCCATCCG -3'
(R):5'- ATGCTGACAAACCCCTTGCTCC -3'

Sequencing Primer
(F):5'- GTCCAGAAGCCTCTGCTTCAG -3'
(R):5'- GCTTCCATCTGCAAAGCC -3'

Posted On

2014-05-14