Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Rhobtb1'

359354

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

3110048G13Rik, 1700008H16Rik

MMRRC Submission

042024-MU

Accession Numbers

Essential gene?

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

Stock #

R4737 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68987264-69127621 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 69115327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163760] [ENSMUST00000163760] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000167384] [ENSMUST00000168117]

AlphaFold

Q9DAK3

Predicted Effect

probably null
Transcript: ENSMUST00000020101

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944

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 null
Transcript: ENSMUST00000067908

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944

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 null
Transcript: ENSMUST00000163760

SMART Domains

Protein: ENSMUSP00000127904
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:BTB	1	58	3.8e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000163760

SMART Domains

Protein: ENSMUSP00000127904
Gene: ENSMUSG00000019944

Domain	Start	End	E-Value	Type
Pfam:BTB	1	58	3.8e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000164034

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944

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: ENSMUST00000165765

Predicted Effect

probably null
Transcript: ENSMUST00000167384

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944

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 null
Transcript: ENSMUST00000167384

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944

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

Meta Mutation Damage Score

0.9498

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,055,384 (GRCm39)		noncoding transcript	Het
Acp2	A	T	2: 91,041,068 (GRCm39)	R419W	probably benign	Het
Actr5	A	G	2: 158,469,991 (GRCm39)	N207S	probably damaging	Het
Afap1	G	A	5: 36,119,126 (GRCm39)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,259,836 (GRCm39)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,266,773 (GRCm39)		noncoding transcript	Het
Carf	A	G	1: 60,148,477 (GRCm39)	T58A	probably benign	Het
Carns1	A	G	19: 4,220,927 (GRCm39)		probably benign	Het
Ccp110	T	A	7: 118,323,771 (GRCm39)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,882 (GRCm39)	D1218E	probably benign	Het
Chrna9	A	T	5: 66,125,214 (GRCm39)	T52S	probably damaging	Het
Chst9	T	C	18: 15,585,834 (GRCm39)	Y243C	probably damaging	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cilk1	A	G	9: 78,057,936 (GRCm39)	T162A	probably damaging	Het
Clk2	A	T	3: 89,076,016 (GRCm39)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Cpt1b	C	T	15: 89,305,609 (GRCm39)	D369N	probably benign	Het
Crhr2	G	T	6: 55,068,290 (GRCm39)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,976,150 (GRCm39)	I33F	probably damaging	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Ddhd1	A	T	14: 45,866,278 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,871,219 (GRCm39)	I480V	probably benign	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Dpy19l3	A	T	7: 35,402,926 (GRCm39)	M562K	probably damaging	Het
Dus3l	T	C	17: 57,074,868 (GRCm39)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,719,805 (GRCm39)	Q96*	probably null	Het
Egfr	T	C	11: 16,819,231 (GRCm39)	F254L	probably damaging	Het
Eml5	C	T	12: 98,765,111 (GRCm39)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,679,634 (GRCm39)	Y62*	probably null	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,043,711 (GRCm39)		noncoding transcript	Het
H2-M9	G	T	17: 36,951,631 (GRCm39)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,565,346 (GRCm39)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,406,139 (GRCm39)	I259V	probably benign	Het
Insm1	A	T	2: 146,064,822 (GRCm39)	T213S	probably benign	Het
Iqca1	T	C	1: 90,005,544 (GRCm39)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,382,976 (GRCm39)		probably benign	Het
Kdm7a	G	C	6: 39,129,773 (GRCm39)	L468V	possibly damaging	Het
Lck	G	A	4: 129,449,777 (GRCm39)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,678,553 (GRCm39)	L265P	probably damaging	Het
Lipa	T	A	19: 34,479,034 (GRCm39)	K229*	probably null	Het
Lrrk1	C	T	7: 65,956,621 (GRCm39)	S418N	probably benign	Het
Mark2	A	G	19: 7,258,597 (GRCm39)	V126A	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,403,734 (GRCm39)	K85M	probably damaging	Het
Mst1	A	G	9: 107,957,720 (GRCm39)	R15G	probably benign	Het
Muc6	T	G	7: 141,226,426 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 32,131,655 (GRCm39)	S514G	probably damaging	Het
Nars1	T	C	18: 64,649,498 (GRCm39)	E11G	probably benign	Het
Ogdh	T	A	11: 6,247,044 (GRCm39)	F23I	probably benign	Het
Or10g9	A	T	9: 39,911,718 (GRCm39)	D268E	probably damaging	Het
Or12e9	T	C	2: 87,202,665 (GRCm39)	I263T	probably damaging	Het
Or4a39	C	T	2: 89,236,830 (GRCm39)	V198I	probably benign	Het
Or4b1b	A	G	2: 90,112,725 (GRCm39)	S65P	probably damaging	Het
Or4c100	C	T	2: 88,356,569 (GRCm39)	S214F	probably damaging	Het
Or52r1c	C	T	7: 102,735,121 (GRCm39)	A127V	probably damaging	Het
Or9k2	T	A	10: 129,998,707 (GRCm39)	T163S	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Patl2	T	A	2: 121,955,787 (GRCm39)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,278,952 (GRCm39)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 94,911,649 (GRCm39)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,097,271 (GRCm39)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,871,387 (GRCm39)	S215L	probably benign	Het
Psmd2	T	G	16: 20,478,565 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,675,103 (GRCm39)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Scel	T	A	14: 103,809,473 (GRCm39)	M271K	possibly damaging	Het
Senp3	A	T	11: 69,569,655 (GRCm39)	C310*	probably null	Het
Slc25a3	T	C	10: 90,958,050 (GRCm39)	T97A	possibly damaging	Het
Srsf11	A	T	3: 157,732,369 (GRCm39)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,474 (GRCm39)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm39)	N1471S	probably benign	Het
Tnn	T	G	1: 159,973,659 (GRCm39)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,069,150 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,463,259 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 120,902,938 (GRCm39)	Q1180*	probably null	Het
Usp43	T	A	11: 67,746,331 (GRCm39)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,131,149 (GRCm39)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,629 (GRCm39)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,317,384 (GRCm39)	D118G	probably damaging	Het
Vwce	A	G	19: 10,627,943 (GRCm39)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,279,225 (GRCm39)	R561L	probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	probably damaging	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
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
R8712:Rhobtb1	UTSW	10	69,106,587 (GRCm39)	missense	probably damaging	1.00
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'- AGTTCTCGTAGCAGCACTGAG -3'
(R):5'- GTTTTCATTGCCTAGCAGGG -3'

Sequencing Primer
(F):5'- GAGCCTTCTTTACACTGTTGCAGG -3'
(R):5'- TAGCAGGGCCTATCGCAGAG -3'

Posted On

2015-11-11