Mutagenetix > Incidental Mutations

Incidental Mutation 'R5951:Rhobtb1'

470899

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

MMRRC Submission

044141-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.267) question?

Stock #

R5951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69151434-69291791 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69270255 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 217 (F217I)

Ref Sequence

ENSEMBL: ENSMUSP00000131222 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000020101
AA Change: F279I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: F279I

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: F279I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: F279I

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: F279I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: F279I

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: F217I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: F217I

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

0.0828

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

100% (78/78)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,799	E180D	probably damaging	Het
Add3	A	G	19: 53,244,289		probably null	Het
Adgrv1	A	T	13: 81,442,501	I4396N	probably damaging	Het
Apc	C	T	18: 34,317,146	S2331L	possibly damaging	Het
Apoh	G	T	11: 108,395,903	C51F	probably damaging	Het
Arid4b	T	C	13: 14,143,063	V177A	possibly damaging	Het
Atp13a1	T	A	8: 69,797,285	I343N	probably damaging	Het
Bcar1	T	C	8: 111,713,400	D654G	probably benign	Het
Brox	T	C	1: 183,282,508	K245R	probably damaging	Het
Ccdc146	A	T	5: 21,319,579	S258R	possibly damaging	Het
Ccdc169	A	C	3: 55,140,141	K18Q	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Crot	C	A	5: 8,969,120	E478*	probably null	Het
Dgkq	A	T	5: 108,654,370	M443K	probably damaging	Het
Dhx32	A	T	7: 133,737,328	L326Q	probably damaging	Het
Dtwd1	A	G	2: 126,158,422	I93V	probably benign	Het
Ehmt2	C	T	17: 34,899,381	T44I	probably benign	Het
Enc1	T	C	13: 97,245,257	S92P	probably benign	Het
Epha5	T	C	5: 84,331,192		probably benign	Het
Eya4	T	A	10: 23,155,994	S244C	probably damaging	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Fscn3	A	T	6: 28,436,174	I490F	possibly damaging	Het
Galntl6	A	G	8: 57,962,402	V239A	probably benign	Het
Glg1	T	C	8: 111,165,691	I841V	possibly damaging	Het
Gm15455	T	C	1: 33,837,812		noncoding transcript	Het
Gpd1l	C	T	9: 114,914,405	M142I	probably benign	Het
Helb	A	G	10: 120,091,748	V819A	possibly damaging	Het
Hnrnpul2	T	G	19: 8,824,891	F374C	probably damaging	Het
Hoxc10	G	A	15: 102,967,318	S154N	possibly damaging	Het
Ice2	A	T	9: 69,412,369	T367S	possibly damaging	Het
Iqca	A	T	1: 90,140,097		probably null	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Klhl14	T	A	18: 21,651,620	H250L	probably damaging	Het
Kmt2c	A	T	5: 25,330,803	D1447E	probably benign	Het
Larp1	G	T	11: 58,049,939	M630I	probably benign	Het
Lrp2	A	G	2: 69,496,323		probably null	Het
Map4k3	G	T	17: 80,603,998	Q673K	probably benign	Het
Mettl16	A	G	11: 74,795,997	N201D	possibly damaging	Het
Mrpl15	C	A	1: 4,785,733		probably benign	Het
Mthfd1l	T	A	10: 4,048,222	V655D	probably damaging	Het
Odf1	T	C	15: 38,226,287	Y144H	probably damaging	Het
Olfr1093	G	T	2: 86,786,227	V166L	probably benign	Het
Olfr38	G	T	6: 42,762,559	C169F	probably damaging	Het
Padi1	T	C	4: 140,814,829	Y594C	probably damaging	Het
Palm3	T	A	8: 84,029,420	D520E	probably benign	Het
Paox	G	A	7: 140,127,654	C130Y	probably damaging	Het
Parpbp	T	A	10: 88,139,907	S115C	probably damaging	Het
Pcnx3	A	G	19: 5,671,680	V1438A	possibly damaging	Het
Pdlim2	T	A	14: 70,167,780	D212V	probably benign	Het
Pi4ka	A	G	16: 17,303,142	F53L	probably damaging	Het
Pik3c2a	A	T	7: 116,368,184	D839E	probably damaging	Het
Pou2f1	T	C	1: 165,883,056		probably benign	Het
Ppl	A	T	16: 5,088,628	Y1268N	probably benign	Het
Prelid3a	C	T	18: 67,464,941	S6L	probably benign	Het
Ptk2	T	G	15: 73,303,833	D285A	possibly damaging	Het
Rasd2	T	G	8: 75,222,183	Y246D	probably damaging	Het
Rhbdl2	A	G	4: 123,814,327	T110A	probably benign	Het
Serhl	T	C	15: 83,103,036		probably benign	Het
Sh3tc2	A	G	18: 61,990,007	E613G	probably damaging	Het
Slc26a3	A	G	12: 31,452,715		probably benign	Het
Steap4	T	C	5: 7,975,769	I110T	probably benign	Het
Syde1	C	A	10: 78,589,316	R287L	possibly damaging	Het
Tmem184c	C	T	8: 77,598,662		probably null	Het
Trmt44	C	A	5: 35,572,688		probably benign	Het
Ttbk2	G	T	2: 120,773,283	S256R	probably benign	Het
Ttll6	A	T	11: 96,145,510	I322F	probably damaging	Het
Ubap2	A	T	4: 41,205,753		probably null	Het
Wsb2	A	T	5: 117,377,535	T402S	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGCAGTTCTGGAAATCCC -3'
(R):5'- AAGCCAAACTCTCAGGCAGG -3'

Sequencing Primer
(F):5'- GCAGTTCTGGAAATCCCACTTG -3'
(R):5'- AGGTCCTGGCCTGAAGAC -3'

Posted On

2017-03-31