Mutagenetix > Incidental Mutation

Incidental Mutation 'R8712:Rhobtb1'

669655

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

3110048G13Rik, 1700008H16Rik

MMRRC Submission

068566-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.498) question?

Stock #

R8712 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68987264-69127621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69106587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 446 (M446K)

Ref Sequence

ENSEMBL: ENSMUSP00000020101 (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: M446K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: M446K

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: M446K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: M446K

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: M446K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: M446K

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: ENSMUST00000167384
AA Change: M384K

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: M384K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	A	T	16: 85,594,896 (GRCm39)	N617K	probably benign	Het
Adnp2	A	T	18: 80,174,185 (GRCm39)	C75S	probably damaging	Het
Agmo	T	C	12: 37,407,673 (GRCm39)	F186L	possibly damaging	Het
Ahnak2	T	C	12: 112,749,872 (GRCm39)	Y122C		Het
Ahnak2	T	C	12: 112,750,709 (GRCm39)	E71G		Het
Aldh5a1	A	G	13: 25,102,524 (GRCm39)	V313A	probably damaging	Het
Ankib1	C	A	5: 3,822,643 (GRCm39)	C21F	probably benign	Het
Aqr	A	G	2: 113,949,358 (GRCm39)	Y947H	probably damaging	Het
Atp1a2	T	A	1: 172,103,547 (GRCm39)	Y991F	probably benign	Het
Atp8b3	G	A	10: 80,365,923 (GRCm39)	T309M	possibly damaging	Het
Blzf1	T	A	1: 164,125,859 (GRCm39)	D259V	possibly damaging	Het
Cacng5	T	C	11: 107,772,510 (GRCm39)	I113V	probably benign	Het
Catsper3	T	C	13: 55,953,657 (GRCm39)	M269T	probably benign	Het
Ccdc142	A	C	6: 83,079,233 (GRCm39)	Y190S	probably damaging	Het
Ccdc159	C	A	9: 21,845,051 (GRCm39)	Q306K	probably benign	Het
Ccdc180	A	T	4: 45,920,842 (GRCm39)		probably null	Het
Cebpz	A	G	17: 79,229,081 (GRCm39)	F955S	possibly damaging	Het
Cftr	C	T	6: 18,274,696 (GRCm39)	T938I	probably damaging	Het
Col28a1	T	C	6: 8,013,133 (GRCm39)	K973R	probably benign	Het
Cyp2c29	T	C	19: 39,310,138 (GRCm39)		probably benign	Het
Ddx1	A	G	12: 13,293,859 (GRCm39)		probably benign	Het
Duox2	A	C	2: 122,119,826 (GRCm39)	Y867*	probably null	Het
Ereg	T	C	5: 91,237,013 (GRCm39)	Y111H	possibly damaging	Het
Esrrb	T	A	12: 86,565,724 (GRCm39)	L417Q	probably damaging	Het
Fbxw7	G	A	3: 84,859,684 (GRCm39)	R2H	unknown	Het
Galnt6	C	T	15: 100,592,501 (GRCm39)	V569I	probably benign	Het
Gm14226	G	A	2: 154,866,094 (GRCm39)	C17Y	unknown	Het
Gpr150	T	G	13: 76,204,642 (GRCm39)	D101A	probably damaging	Het
Grm1	A	T	10: 10,565,296 (GRCm39)	L1004Q	probably benign	Het
Gtf2a1l	T	A	17: 89,022,351 (GRCm39)	D447E	probably damaging	Het
Gtf2ird1	C	T	5: 134,444,064 (GRCm39)	V64M	probably damaging	Het
Ifi206	A	T	1: 173,308,074 (GRCm39)	W641R		Het
Ifi214	T	A	1: 173,355,486 (GRCm39)	E107D	possibly damaging	Het
Kif19a	T	C	11: 114,675,599 (GRCm39)	V357A	probably damaging	Het
Klhdc7b	T	A	15: 89,271,025 (GRCm39)	S636T	probably benign	Het
Klhl25	C	T	7: 75,515,420 (GRCm39)	R109C	probably damaging	Het
Ltbp2	T	C	12: 84,853,124 (GRCm39)	E835G	probably benign	Het
Marchf1	A	G	8: 66,921,000 (GRCm39)	K226E	probably damaging	Het
Mcpt1	T	C	14: 56,256,170 (GRCm39)		probably benign	Het
Myrf	C	A	19: 10,192,434 (GRCm39)	R639L	probably benign	Het
Naip5	T	C	13: 100,359,604 (GRCm39)	H544R	possibly damaging	Het
Nccrp1	T	C	7: 28,245,769 (GRCm39)	I132V	probably benign	Het
Nprl3	C	T	11: 32,187,334 (GRCm39)	V333I	possibly damaging	Het
Or13a25	C	T	7: 140,248,052 (GRCm39)	S277L	possibly damaging	Het
Or14n1-ps1	T	C	7: 86,092,923 (GRCm39)	S245P	probably damaging	Het
Or2o1	T	C	11: 49,051,297 (GRCm39)	M152T	probably benign	Het
Or2y1	T	A	11: 49,385,671 (GRCm39)	S104T	probably benign	Het
Or4b1d	A	T	2: 89,969,114 (GRCm39)	I123N	probably damaging	Het
Or4f62	A	T	2: 111,986,934 (GRCm39)	I213F	probably damaging	Het
Or52h1	T	C	7: 103,829,025 (GRCm39)	N197D	probably damaging	Het
Or56a41	C	A	7: 104,741,808 (GRCm39)	V73F	possibly damaging	Het
Or8c15	T	C	9: 38,121,099 (GRCm39)	V248A	probably benign	Het
Or8d6	T	C	9: 39,853,891 (GRCm39)	S112P	probably damaging	Het
Otx2	A	G	14: 48,896,521 (GRCm39)	M179T	probably damaging	Het
Pmfbp1	A	G	8: 110,265,309 (GRCm39)		probably benign	Het
Ppfia3	T	A	7: 45,011,129 (GRCm39)	T34S	probably benign	Het
Prkcsh	T	C	9: 21,924,375 (GRCm39)	Y502H	probably damaging	Het
Psd	T	C	19: 46,301,775 (GRCm39)	E937G	probably damaging	Het
Rbbp6	T	A	7: 122,600,976 (GRCm39)	I1661N	unknown	Het
Sall3	T	C	18: 81,017,236 (GRCm39)	I231V	probably benign	Het
Slc12a9	C	T	5: 137,325,916 (GRCm39)	V270I	probably damaging	Het
Slc6a15	A	G	10: 103,225,112 (GRCm39)	K67E	probably damaging	Het
Slc9c1	A	G	16: 45,380,646 (GRCm39)	D524G	probably benign	Het
Smpdl3a	A	G	10: 57,687,526 (GRCm39)	D418G	probably benign	Het
Sox6	T	C	7: 115,196,743 (GRCm39)	T296A	probably benign	Het
Ssu2	T	C	6: 112,361,399 (GRCm39)	E19G	probably damaging	Het
Tctn3	T	C	19: 40,600,170 (GRCm39)	N90S	probably damaging	Het
Tex24	A	G	8: 27,834,652 (GRCm39)	Q60R	possibly damaging	Het
Tlcd1	T	A	11: 78,070,470 (GRCm39)	*128R	probably null	Het
Tti1	A	C	2: 157,834,930 (GRCm39)	L1010R	probably damaging	Het
Ttn	A	G	2: 76,567,682 (GRCm39)	L27737P	probably damaging	Het
Ubqln5	T	A	7: 103,778,322 (GRCm39)	K167N	probably benign	Het
Unkl	A	G	17: 25,450,689 (GRCm39)	I492V	possibly damaging	Het
Vmn1r8	G	A	6: 57,013,665 (GRCm39)	V239I	probably benign	Het
Vmn2r101	T	A	17: 19,811,397 (GRCm39)	L494I	probably benign	Het
Vmn2r54	G	T	7: 12,369,877 (GRCm39)	T62K	probably benign	Het

Other mutations in Rhobtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00657:Rhobtb1	APN	10	69,106,051 (GRCm39)	missense	probably damaging	1.00
IGL01504:Rhobtb1	APN	10	69,085,528 (GRCm39)	missense	probably damaging	1.00
IGL01561:Rhobtb1	APN	10	69,106,221 (GRCm39)	missense	probably benign	0.17
IGL01924:Rhobtb1	APN	10	69,106,134 (GRCm39)	missense	probably damaging	1.00
IGL02252:Rhobtb1	APN	10	69,085,515 (GRCm39)	missense	probably damaging	1.00
IGL02334:Rhobtb1	APN	10	69,121,508 (GRCm39)	splice site	probably benign
IGL02393:Rhobtb1	APN	10	69,124,817 (GRCm39)	missense	probably damaging	1.00
IGL02514:Rhobtb1	APN	10	69,125,471 (GRCm39)	missense	probably benign	0.00
IGL03192:Rhobtb1	APN	10	69,084,653 (GRCm39)	missense	probably damaging	1.00
R1687:Rhobtb1	UTSW	10	69,106,109 (GRCm39)	missense	probably damaging	1.00
R1713:Rhobtb1	UTSW	10	69,108,602 (GRCm39)	missense	possibly damaging	0.61
R1713:Rhobtb1	UTSW	10	69,108,601 (GRCm39)	missense	probably benign	0.05
R1750:Rhobtb1	UTSW	10	69,115,236 (GRCm39)	missense	probably damaging	1.00
R2044:Rhobtb1	UTSW	10	69,108,693 (GRCm39)	splice site	probably benign
R2312:Rhobtb1	UTSW	10	69,106,293 (GRCm39)	nonsense	probably null
R2402:Rhobtb1	UTSW	10	69,106,254 (GRCm39)	missense	probably benign	0.00
R3815:Rhobtb1	UTSW	10	69,121,523 (GRCm39)	missense	possibly damaging	0.75
R4633:Rhobtb1	UTSW	10	69,085,443 (GRCm39)	splice site	probably null
R4737:Rhobtb1	UTSW	10	69,115,327 (GRCm39)	critical splice donor site	probably null
R4780:Rhobtb1	UTSW	10	69,105,983 (GRCm39)	missense	probably benign	0.02
R4865:Rhobtb1	UTSW	10	69,106,554 (GRCm39)	missense	probably benign	0.04
R5124:Rhobtb1	UTSW	10	69,105,731 (GRCm39)	critical splice acceptor site	probably null
R5248:Rhobtb1	UTSW	10	69,084,615 (GRCm39)	missense	probably damaging	1.00
R5304:Rhobtb1	UTSW	10	69,105,742 (GRCm39)	missense	probably damaging	1.00
R5480:Rhobtb1	UTSW	10	69,106,563 (GRCm39)	missense	possibly damaging	0.86
R5836:Rhobtb1	UTSW	10	69,105,819 (GRCm39)	missense	probably damaging	1.00
R5951:Rhobtb1	UTSW	10	69,106,085 (GRCm39)	missense	probably damaging	0.99
R6218:Rhobtb1	UTSW	10	69,106,286 (GRCm39)	missense	probably benign	0.00
R6629:Rhobtb1	UTSW	10	69,106,146 (GRCm39)	missense	possibly damaging	0.92
R6869:Rhobtb1	UTSW	10	69,106,056 (GRCm39)	missense	probably damaging	0.99
R7081:Rhobtb1	UTSW	10	69,102,127 (GRCm39)	missense	probably benign	0.29
R7260:Rhobtb1	UTSW	10	69,106,610 (GRCm39)	nonsense	probably null
R7427:Rhobtb1	UTSW	10	69,084,654 (GRCm39)	missense	probably damaging	1.00
R7428:Rhobtb1	UTSW	10	69,084,654 (GRCm39)	missense	probably damaging	1.00
R8054:Rhobtb1	UTSW	10	69,084,720 (GRCm39)	missense	probably damaging	1.00
R8139:Rhobtb1	UTSW	10	69,102,120 (GRCm39)	missense	probably damaging	1.00
R8144:Rhobtb1	UTSW	10	69,125,388 (GRCm39)	missense	possibly damaging	0.89
R8723:Rhobtb1	UTSW	10	69,106,101 (GRCm39)	missense	probably damaging	1.00
R9116:Rhobtb1	UTSW	10	69,106,579 (GRCm39)	missense	probably damaging	1.00
R9122:Rhobtb1	UTSW	10	69,106,653 (GRCm39)	missense	probably damaging	1.00
R9216:Rhobtb1	UTSW	10	69,108,628 (GRCm39)	missense	probably benign	0.22
R9409:Rhobtb1	UTSW	10	69,106,217 (GRCm39)	missense	probably benign	0.09
R9486:Rhobtb1	UTSW	10	69,106,621 (GRCm39)	missense	probably damaging	1.00
R9628:Rhobtb1	UTSW	10	69,106,653 (GRCm39)	missense	probably damaging	1.00
R9764:Rhobtb1	UTSW	10	69,115,202 (GRCm39)	missense	probably damaging	0.98
Z1176:Rhobtb1	UTSW	10	69,125,381 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCAACCCCATTTCCAAGCG -3'
(R):5'- AGTTGATCCCTACTGTCTTTACCAG -3'

Sequencing Primer
(F):5'- ATTTCCAAGCGGGTGGGC -3'
(R):5'- AGTTCTCCCGCCCTGAC -3'

Posted On

2021-04-30