Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Rhobtb1'

180199

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.586) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

69151434-69291791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69270304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 233 (L233H)

Ref Sequence

ENSEMBL: ENSMUSP00000131222 (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: L295H

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

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: L295H

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: L295H

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

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: L295H

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: L295H

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

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: L295H

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

probably damaging
Transcript: ENSMUST00000167384
AA Change: L233H

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

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: L233H

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,223,986		probably benign	Het
Adamts13	A	G	2: 26,996,583	E938G	possibly damaging	Het
Aox2	C	T	1: 58,287,743	T167I	possibly damaging	Het
Apba3	G	T	10: 81,273,073	A557S	probably benign	Het
Atad2b	T	C	12: 5,034,093	L1382P	probably damaging	Het
Atrn	C	T	2: 130,935,565	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,166,761	S88G	probably benign	Het
Baz2b	T	C	2: 59,935,271	K887E	probably damaging	Het
Ccdc162	A	C	10: 41,569,887	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,317,453		probably benign	Het
Chit1	A	G	1: 134,149,410	D317G	probably benign	Het
Chrnb1	A	T	11: 69,795,019		probably benign	Het
Cobl	G	T	11: 12,254,596	T620K	probably benign	Het
Creld1	T	C	6: 113,483,960	F20L	probably benign	Het
Csmd2	A	T	4: 128,559,947	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,372,629	D259G	probably benign	Het
Dbnl	A	G	11: 5,797,142	Y224C	probably damaging	Het
Det1	A	T	7: 78,843,823	C144*	probably null	Het
Fbxo47	G	T	11: 97,856,160	A360D	probably damaging	Het
Frrs1	G	A	3: 116,885,239	G237R	probably damaging	Het
Gatsl2	T	C	5: 134,135,602	F134S	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Gm4788	G	A	1: 139,739,206	L444F	probably damaging	Het
Gm5862	A	C	5: 26,022,771	W41G	probably benign	Het
Gria2	T	C	3: 80,710,331	T372A	probably benign	Het
Hmcn2	A	T	2: 31,398,917	Q2246L	probably benign	Het
Ide	T	C	19: 37,272,164	M930V	unknown	Het
Kdm5a	T	C	6: 120,394,255		probably null	Het
Khnyn	A	G	14: 55,894,969	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,244,186	F209L	possibly damaging	Het
Med13	C	A	11: 86,308,696		probably benign	Het
Myom2	A	G	8: 15,069,685	E147G	probably benign	Het
Myrip	T	A	9: 120,388,264	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,631,414	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,320,830	C247*	probably null	Het
Nup54	G	A	5: 92,424,435	P252L	probably benign	Het
Olfr610	A	G	7: 103,506,796	I50T	possibly damaging	Het
Otoa	C	A	7: 121,105,968	N244K	probably damaging	Het
Pbrm1	G	A	14: 31,082,604	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,898,427	N190K	probably damaging	Het
Sec24c	T	A	14: 20,689,689	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,404,825		probably null	Het
Slitrk1	G	A	14: 108,911,239	A680V	probably benign	Het
Smpd1	C	T	7: 105,555,448	S178L	probably benign	Het
Spindoc	A	G	19: 7,382,677	L42P	probably damaging	Het
Tenm4	A	G	7: 96,895,212	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,839,194	A18E	probably damaging	Het
Tmem213	A	T	6: 38,109,438	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,430,343	I102L	probably benign	Het
Trip11	T	G	12: 101,886,884	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385	R1056*	probably null	Het
Wdr27	T	G	17: 14,917,226	K433N	probably damaging	Het
Wls	C	A	3: 159,901,443	S189*	probably null	Het
Yeats2	A	G	16: 20,206,167	N706D	probably damaging	Het
Zbp1	A	G	2: 173,212,254	V158A	probably benign	Het
Zfp595	G	T	13: 67,317,783	H139N	possibly damaging	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
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
R1687:Rhobtb1	UTSW	10	69270279	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

Posted On

2014-05-07