Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Rhobtb1'

503849

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69151434-69291791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 69270456 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 284 (A284P)

Ref Sequence

ENSEMBL: ENSMUSP00000131222 (fasta)

Gene Model

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

AlphaFold

Q9DAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000020101
AA Change: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: A346P

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: ENSMUST00000067908
AA Change: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: A346P

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 benign
Transcript: ENSMUST00000164034
AA Change: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: A346P

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 benign
Transcript: ENSMUST00000167384
AA Change: A284P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: A284P

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	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
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
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
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'- TGACGAGGAGCACATCTTTGC -3'
(R):5'- TAGAGGAATCTCAGCAGGGTCC -3'

Sequencing Primer
(F):5'- GCACATCTTTGCGCACCG -3'
(R):5'- AAAGGGCCTGACTGCATC -3'

Posted On

2018-02-27