Mutagenetix > Incidental Mutation

Incidental Mutation 'R1713:Rhobtb1'

190790

Institutional Source

Beutler Lab

Gene Symbol

Rhobtb1

Ensembl Gene

ENSMUSG00000019944

Gene Name

Rho-related BTB domain containing 1

Synonyms

3110048G13Rik, 1700008H16Rik

MMRRC Submission

039746-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.511) question?

Stock #

R1713 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

68987264-69127621 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 69108601 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 434 (S434R)

Ref Sequence

ENSEMBL: ENSMUSP00000131222 (fasta)

Gene Model

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

AlphaFold

Q9DAK3

Predicted Effect

probably benign
Transcript: ENSMUST00000020101
AA Change: S496R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: S496R

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: S496R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: S496R

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: ENSMUST00000164034
AA Change: S496R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: S496R

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: S434R

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

SMART Domains

Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: S434R

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

0.0598

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (96/98)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	A	4: 103,127,964 (GRCm39)	I54F	possibly damaging	Het
Ackr1	A	T	1: 173,159,916 (GRCm39)	H134Q	probably benign	Het
Agtr1b	A	T	3: 20,370,473 (GRCm39)	F44L	probably benign	Het
Ahnak	G	A	19: 8,989,173 (GRCm39)	D3486N	possibly damaging	Het
Akap9	T	C	5: 4,089,345 (GRCm39)		probably null	Het
Anks6	T	A	4: 47,039,726 (GRCm39)	Q495L	probably benign	Het
Arpp21	A	G	9: 111,896,237 (GRCm39)	S684P	probably damaging	Het
Ash1l	A	G	3: 88,983,531 (GRCm39)	E2911G	probably damaging	Het
Avpi1	C	T	19: 42,113,248 (GRCm39)	E70K	probably damaging	Het
Btbd17	G	T	11: 114,686,650 (GRCm39)	P9T	probably benign	Het
C4b	A	G	17: 34,948,245 (GRCm39)		probably benign	Het
Carm1	T	C	9: 21,497,785 (GRCm39)	V385A	probably damaging	Het
Casd1	A	G	6: 4,624,104 (GRCm39)	D299G	probably damaging	Het
Clca3a1	T	A	3: 144,730,307 (GRCm39)	K179N	probably benign	Het
Col1a2	T	C	6: 4,538,691 (GRCm39)	S1204P	unknown	Het
Col24a1	C	T	3: 145,072,624 (GRCm39)	Q780*	probably null	Het
Cxadr	C	A	16: 78,131,133 (GRCm39)	N216K	probably damaging	Het
Daam1	C	T	12: 71,942,656 (GRCm39)	T40I	unknown	Het
Dab2	C	T	15: 6,459,182 (GRCm39)	P365S	possibly damaging	Het
Dnah1	A	T	14: 31,001,139 (GRCm39)	I2402N	probably damaging	Het
Dscaml1	T	A	9: 45,663,988 (GRCm39)	S1954R	possibly damaging	Het
Dync2h1	T	C	9: 7,131,891 (GRCm39)	T1639A	probably benign	Het
Ebf1	A	T	11: 44,815,393 (GRCm39)	I336F	probably damaging	Het
Ebna1bp2	A	G	4: 118,482,881 (GRCm39)	N290S	possibly damaging	Het
Gabra2	A	G	5: 71,171,906 (GRCm39)	I110T	probably benign	Het
Galk2	A	G	2: 125,773,210 (GRCm39)	N203S	probably benign	Het
Gria4	T	C	9: 4,424,448 (GRCm39)	T806A	probably benign	Het
Impg2	A	G	16: 56,080,889 (GRCm39)	T789A	probably benign	Het
Itga6	A	G	2: 71,617,546 (GRCm39)	T22A	probably benign	Het
Itgb4	T	A	11: 115,894,315 (GRCm39)	I1312N	probably damaging	Het
Kdm4c	A	G	4: 74,216,721 (GRCm39)	D160G	probably benign	Het
Kdr	A	G	5: 76,129,127 (GRCm39)	V173A	probably benign	Het
Kif14	T	C	1: 136,455,202 (GRCm39)	S1575P	probably benign	Het
Lcp1	G	A	14: 75,436,884 (GRCm39)		probably null	Het
Lipe	C	A	7: 25,084,750 (GRCm39)	S516I	probably damaging	Het
Lrrc61	G	A	6: 48,545,708 (GRCm39)	R177Q	possibly damaging	Het
Macf1	A	G	4: 123,272,487 (GRCm39)	I6429T	probably damaging	Het
Map3k4	C	T	17: 12,468,458 (GRCm39)	E1012K	probably benign	Het
Map3k5	T	C	10: 19,986,593 (GRCm39)	F936L	possibly damaging	Het
Mllt3	A	T	4: 87,701,901 (GRCm39)	N497K	probably damaging	Het
Moxd1	G	A	10: 24,157,394 (GRCm39)	G342D	probably damaging	Het
Mtdh	A	C	15: 34,114,985 (GRCm39)	Q202H	possibly damaging	Het
Nav1	A	G	1: 135,522,972 (GRCm39)		probably benign	Het
Nop56	T	C	2: 130,119,886 (GRCm39)	V109A	possibly damaging	Het
Obscn	T	C	11: 58,970,712 (GRCm39)	D2540G	probably damaging	Het
Omg	T	C	11: 79,393,679 (GRCm39)	I60V	probably benign	Het
Or10q12	A	T	19: 13,746,659 (GRCm39)	T318S	probably benign	Het
Or12e9	A	T	2: 87,202,290 (GRCm39)	Y138F	probably damaging	Het
Osbpl5	G	A	7: 143,248,110 (GRCm39)	H652Y	probably damaging	Het
Parvb	T	C	15: 84,182,192 (GRCm39)		probably benign	Het
Pcdhb3	A	C	18: 37,436,375 (GRCm39)	E780D	probably benign	Het
Pik3c3	A	G	18: 30,456,639 (GRCm39)	D723G	possibly damaging	Het
Prkdc	T	C	16: 15,612,958 (GRCm39)	V3172A	probably benign	Het
Psme4	G	T	11: 30,756,310 (GRCm39)	W272L	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rnf8	T	C	17: 29,853,735 (GRCm39)	F413S	probably damaging	Het
Rpn2	A	G	2: 157,156,888 (GRCm39)	N497S	probably damaging	Het
Rsbn1l	G	T	5: 21,156,488 (GRCm39)	P99Q	probably benign	Het
Serpinb3b	A	T	1: 107,083,164 (GRCm39)	M246K	probably benign	Het
Sgsm2	T	C	11: 74,787,652 (GRCm39)	E19G	probably null	Het
Shank1	A	G	7: 43,969,161 (GRCm39)	H352R	unknown	Het
Slc17a7	A	G	7: 44,819,728 (GRCm39)	I177V	probably benign	Het
Slc28a2	T	A	2: 122,281,494 (GRCm39)	F228I	probably damaging	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc38a1	T	C	15: 96,476,641 (GRCm39)	I407V	probably damaging	Het
Slc39a13	A	G	2: 90,893,442 (GRCm39)	V326A	probably damaging	Het
Slc44a5	T	C	3: 153,944,743 (GRCm39)	L120P	probably damaging	Het
Slfn3	T	C	11: 83,104,140 (GRCm39)	I214T	probably damaging	Het
Slitrk3	A	C	3: 72,957,024 (GRCm39)	S583A	probably benign	Het
Snx14	T	C	9: 88,297,728 (GRCm39)	Y180C	probably damaging	Het
Sorl1	T	A	9: 41,907,538 (GRCm39)	K1483I	probably benign	Het
Ssrp1	C	A	2: 84,871,104 (GRCm39)	H247N	probably damaging	Het
Stk39	A	T	2: 68,137,460 (GRCm39)		probably benign	Het
Syde1	C	T	10: 78,421,530 (GRCm39)	G674R	probably damaging	Het
Tent4a	A	T	13: 69,651,170 (GRCm39)	I565N	probably benign	Het
Themis3	G	A	17: 66,862,848 (GRCm39)	S370L	probably benign	Het
Tll1	T	A	8: 64,554,907 (GRCm39)	N259Y	probably damaging	Het
Tnip2	T	G	5: 34,661,175 (GRCm39)		probably benign	Het
Top2b	T	C	14: 16,409,823 (GRCm38)	V830A	probably benign	Het
Trpm8	T	A	1: 88,292,802 (GRCm39)	N934K	probably damaging	Het
Ttc14	A	G	3: 33,857,069 (GRCm39)	Y179C	probably damaging	Het
Ttn	T	G	2: 76,573,965 (GRCm39)	I17316L	possibly damaging	Het
Tufm	T	C	7: 126,086,871 (GRCm39)	V52A	probably benign	Het
Vamp8	T	A	6: 72,365,270 (GRCm39)	N20I	probably benign	Het
Vmn1r170	A	T	7: 23,306,288 (GRCm39)	H230L	probably benign	Het
Vmn2r50	T	G	7: 9,771,731 (GRCm39)	T657P	probably damaging	Het
Xirp2	G	A	2: 67,342,762 (GRCm39)	G1668R	probably benign	Het
Zik1	C	A	7: 10,224,311 (GRCm39)	R262L	possibly damaging	Het
Zscan25	T	G	5: 145,220,501 (GRCm39)	Y99D	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
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
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'- ACTCGATGTGGGAGCTGGATATGC -3'
(R):5'- ACAGCAAGTGTCTACACAGCAAGTC -3'

Sequencing Primer
(F):5'- GCTGGATATGCCAAAAATATGGATTG -3'
(R):5'- TGTCTACACAGCAAGTCTTGAGC -3'

Posted On

2014-05-14