Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Rhobtb1'

193422

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

3110048G13Rik, 1700008H16Rik

MMRRC Submission

039782-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68987264-69127621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69115236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 21 (K21R)

Ref Sequence

ENSEMBL: ENSMUSP00000127904 (fasta)

Gene Model

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

AlphaFold

Q9DAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000020101
AA Change: K545R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: K545R

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: K545R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: K545R

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: ENSMUST00000163760
AA Change: K21R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127904
Gene: ENSMUSG00000019944
AA Change: K21R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164034
AA Change: K545R

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: K545R

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 benign
Transcript: ENSMUST00000167384
AA Change: K483R

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: K483R

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: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 130,747,859 (GRCm39)	N44K	probably benign	Het
Acd	C	A	8: 106,425,524 (GRCm39)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm39)	T23I	probably benign	Het
Adam26a	T	G	8: 44,023,226 (GRCm39)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,413,676 (GRCm39)	V589M	probably benign	Het
Agbl2	T	A	2: 90,646,720 (GRCm39)		probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,999 (GRCm39)	L170P	probably damaging	Het
Btg2	T	C	1: 134,006,769 (GRCm39)	D8G	probably benign	Het
Cacna1g	A	T	11: 94,334,118 (GRCm39)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,469,286 (GRCm39)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,401,843 (GRCm39)	D766V	probably damaging	Het
Carns1	A	G	19: 4,223,156 (GRCm39)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,713,137 (GRCm39)		probably null	Het
Chrna3	T	C	9: 54,923,341 (GRCm39)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,232,171 (GRCm39)	N972K	probably benign	Het
Cpne7	C	A	8: 123,861,263 (GRCm39)	P541T	probably damaging	Het
Cracd	A	G	5: 77,005,522 (GRCm39)	I628V	unknown	Het
Csmd1	A	T	8: 15,967,303 (GRCm39)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,339,943 (GRCm39)	I404V	probably benign	Het
Dgki	A	T	6: 36,893,369 (GRCm39)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,076,347 (GRCm39)	S782T	probably benign	Het
Dlc1	A	T	8: 37,325,244 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,098,676 (GRCm39)	V459E	probably damaging	Het
Enam	A	G	5: 88,651,086 (GRCm39)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Extl1	A	G	4: 134,089,999 (GRCm39)	S370P	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,479,141 (GRCm39)	I370N	probably benign	Het
Fcgbp	T	A	7: 27,792,868 (GRCm39)	Y957*	probably null	Het
Gkap1	C	A	13: 58,384,857 (GRCm39)	E77*	probably null	Het
Gkn1	A	T	6: 87,326,105 (GRCm39)	N28K	unknown	Het
Gls2	A	G	10: 128,037,194 (GRCm39)	E245G	probably damaging	Het
Glyat	G	A	19: 12,623,679 (GRCm39)	V32I	probably benign	Het
Gm2431	A	T	7: 141,811,762 (GRCm39)	C47*	probably null	Het
Gm5431	T	C	11: 48,785,658 (GRCm39)	D239G	probably benign	Het
Ift70a1	C	T	2: 75,810,599 (GRCm39)	V495I	probably benign	Het
Inpp5d	T	C	1: 87,626,803 (GRCm39)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,619,771 (GRCm39)	I183S	probably benign	Het
Kpna2	G	T	11: 106,882,271 (GRCm39)	L212I	probably damaging	Het
Krt36	C	G	11: 99,994,884 (GRCm39)	R229S	probably benign	Het
Krt78	G	A	15: 101,854,812 (GRCm39)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,461,800 (GRCm39)		probably benign	Het
Ldlrad4	C	A	18: 68,239,758 (GRCm39)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 90,998,236 (GRCm39)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 25,133,433 (GRCm39)	G332S	probably null	Het
Mastl	A	T	2: 23,036,093 (GRCm39)	L141*	probably null	Het
Mdh1b	T	C	1: 63,758,681 (GRCm39)	N304D	probably benign	Het
Mfsd4b3-ps	G	T	10: 39,823,929 (GRCm39)	N110K	probably benign	Het
Mtus2	T	C	5: 148,214,443 (GRCm39)	S1035P	probably damaging	Het
Muc21	T	A	17: 35,931,940 (GRCm39)		probably benign	Het
Myh11	T	C	16: 14,033,654 (GRCm39)	E1080G	probably damaging	Het
Myh11	T	A	16: 14,018,622 (GRCm39)	D1908V	probably damaging	Het
Mypn	A	C	10: 62,971,976 (GRCm39)	M688R	probably benign	Het
Nat8l	G	T	5: 34,158,130 (GRCm39)	C180F	probably damaging	Het
Nip7	T	A	8: 107,784,018 (GRCm39)	L86Q	probably damaging	Het
Nisch	C	T	14: 30,896,839 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,114,601 (GRCm39)	I283V	probably benign	Het
Oas1h	T	A	5: 121,009,840 (GRCm39)		probably null	Het
Or10ag56	T	C	2: 87,139,196 (GRCm39)	V41A	probably benign	Het
Or2g25	A	C	17: 37,970,564 (GRCm39)	I220S	probably damaging	Het
Or4c101	C	A	2: 88,390,402 (GRCm39)	D185E	possibly damaging	Het
Or4c104	T	C	2: 88,586,117 (GRCm39)	R301G	probably benign	Het
Or56b1b	A	T	7: 108,164,564 (GRCm39)	L146*	probably null	Het
Or5w17	T	A	2: 87,583,530 (GRCm39)	D269V	probably damaging	Het
Or8b42	T	A	9: 38,341,986 (GRCm39)	M136K	probably damaging	Het
P4hb	A	G	11: 120,453,546 (GRCm39)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,590,720 (GRCm39)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,618,764 (GRCm39)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,620,070 (GRCm39)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 39,034,946 (GRCm39)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,114,528 (GRCm39)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,950 (GRCm39)	V940A	probably damaging	Het
Picalm	T	A	7: 89,840,390 (GRCm39)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,450,101 (GRCm39)	I249F	probably damaging	Het
Plxnb1	C	A	9: 108,940,836 (GRCm39)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,635,359 (GRCm39)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,363,560 (GRCm39)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,617,228 (GRCm39)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,176,653 (GRCm39)	K557E	possibly damaging	Het
Selenoi	T	C	5: 30,462,771 (GRCm39)	F212S	probably benign	Het
Shc3	T	G	13: 51,603,328 (GRCm39)	Y259S	probably damaging	Het
Skic3	T	A	13: 76,288,720 (GRCm39)	L951Q	possibly damaging	Het
Slc11a2	T	C	15: 100,299,168 (GRCm39)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,028,717 (GRCm39)	M368K	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,876,509 (GRCm39)	Q342L	probably benign	Het
Spink13	T	A	18: 62,740,820 (GRCm39)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,551,958 (GRCm39)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,099,579 (GRCm39)	C5335S	probably damaging	Het
Tagap	T	A	17: 8,148,742 (GRCm39)	D173E	probably benign	Het
Tekt3	A	C	11: 62,960,867 (GRCm39)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,435,321 (GRCm39)	N42K	probably damaging	Het
Tnc	A	G	4: 63,890,972 (GRCm39)	W1728R	probably damaging	Het
Ttc33	C	T	15: 5,241,579 (GRCm39)	R135*	probably null	Het
Unc5c	A	G	3: 141,533,278 (GRCm39)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,770,779 (GRCm39)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 9,786,915 (GRCm39)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,315,632 (GRCm39)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 41,695,251 (GRCm39)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,213,166 (GRCm39)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,070,935 (GRCm39)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,505,351 (GRCm39)		probably null	Het
Xpot	A	T	10: 121,438,932 (GRCm39)		probably null	Het
Xrcc5	C	T	1: 72,364,246 (GRCm39)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,275,077 (GRCm39)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,639,598 (GRCm39)	G298*	probably null	Het
Zfp963	A	G	8: 70,196,100 (GRCm39)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,353,393 (GRCm39)	Q336L	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
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
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'- AGCCATAAATACTAACGGCAGGCG -3'
(R):5'- ATCAGAGTCTGACCCTCAGCAAGC -3'

Sequencing Primer
(F):5'- CTAAGACCCTTAGCCTGAAGGTG -3'
(R):5'- GACCCTCAGCAAGCTTAGTTTTG -3'

Posted On

2014-05-23