Incidental Mutation 'R6218:Rhobtb1'
ID 503849
Institutional Source Beutler Lab
Gene Symbol Rhobtb1
Ensembl Gene ENSMUSG00000019944
Gene Name Rho-related BTB domain containing 1
Synonyms 3110048G13Rik, 1700008H16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R6218 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 68987264-69127621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 69106286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 284 (A284P)
Ref Sequence ENSEMBL: ENSMUSP00000131222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000168117]
AlphaFold Q9DAK3
Predicted Effect probably benign
Transcript: ENSMUST00000020101
AA Change: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: A346P

DomainStartEndE-ValueType
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: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: A346P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ras 16 96 1.8e-5 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164034
AA Change: A346P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: A346P

DomainStartEndE-ValueType
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: A284P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: A284P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ras 16 97 1.9e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169569
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,730 (GRCm39) Q38K probably benign Het
9930111J21Rik2 A T 11: 48,910,134 (GRCm39) N766K probably benign Het
Adam15 A C 3: 89,251,190 (GRCm39) I505S probably benign Het
Apc2 T C 10: 80,142,254 (GRCm39) M391T probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bclaf1 A G 10: 20,210,374 (GRCm39) S840G probably benign Het
Cacna2d4 A G 6: 119,216,021 (GRCm39) Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,724,863 (GRCm39) probably null Het
Ddhd1 A G 14: 45,851,633 (GRCm39) L141P probably damaging Het
Dnaaf3 A T 7: 4,526,671 (GRCm39) S469T probably benign Het
Dzip3 A T 16: 48,778,828 (GRCm39) M323K possibly damaging Het
Eci2 T A 13: 35,177,048 (GRCm39) probably null Het
Fam227b A T 2: 125,968,882 (GRCm39) V64E probably damaging Het
Galnt2 A G 8: 125,070,054 (GRCm39) I524V probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm3443 T A 19: 21,533,110 (GRCm39) S25T probably damaging Het
Gpr22 T A 12: 31,761,616 (GRCm39) K14* probably null Het
Grip1 T C 10: 119,822,251 (GRCm39) S405P possibly damaging Het
Helz2 T C 2: 180,877,738 (GRCm39) H1020R probably damaging Het
Helz2 C A 2: 180,874,087 (GRCm39) V2136L probably benign Het
Il36rn G A 2: 24,167,502 (GRCm39) probably benign Het
Iqsec1 T A 6: 90,666,617 (GRCm39) S607C probably damaging Het
Irag1 G A 7: 110,476,112 (GRCm39) T819M probably benign Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
L3mbtl3 T C 10: 26,168,645 (GRCm39) I595V unknown Het
Large2 T C 2: 92,200,981 (GRCm39) D65G probably damaging Het
Lrrfip1 T C 1: 91,009,881 (GRCm39) Y122H probably damaging Het
Map1b A T 13: 99,569,714 (GRCm39) D1002E unknown Het
Mink1 C T 11: 70,489,720 (GRCm39) T59I possibly damaging Het
Myo7b T C 18: 32,092,507 (GRCm39) N2097D probably benign Het
Nbea C A 3: 55,535,905 (GRCm39) C2893F probably damaging Het
Nlgn1 A T 3: 25,490,257 (GRCm39) V490E probably damaging Het
Or2w1b G A 13: 21,300,401 (GRCm39) E180K probably damaging Het
Or2y3 A G 17: 38,393,620 (GRCm39) M83T probably damaging Het
Or4c123 G T 2: 89,127,306 (GRCm39) H103N probably damaging Het
Or4f62 T C 2: 111,986,701 (GRCm39) I135T probably damaging Het
Or4k2 C A 14: 50,424,135 (GRCm39) D180Y probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pdcl3 T C 1: 39,027,152 (GRCm39) probably null Het
Pheta2 T A 15: 82,227,917 (GRCm39) H145Q probably benign Het
Pira12 A T 7: 3,897,031 (GRCm39) S602T possibly damaging Het
Pkp1 T C 1: 135,807,646 (GRCm39) K541E probably damaging Het
Plekhh2 G A 17: 84,898,992 (GRCm39) V990I probably benign Het
Ppp1r3a A T 6: 14,718,430 (GRCm39) V828D probably damaging Het
Prrc2b T C 2: 32,098,823 (GRCm39) Y712H probably damaging Het
Prune2 T C 19: 17,098,926 (GRCm39) S1477P probably benign Het
Psma5 A G 3: 108,187,118 (GRCm39) K239R probably benign Het
Samsn1 G A 16: 75,742,162 (GRCm39) noncoding transcript Het
Scel A G 14: 103,809,478 (GRCm39) T273A probably benign Het
Slc22a5 T A 11: 53,782,444 (GRCm39) probably benign Het
Slc25a37 A T 14: 69,486,953 (GRCm39) M110K possibly damaging Het
Slc6a2 A T 8: 93,708,609 (GRCm39) M242L probably benign Het
Slc8a3 C A 12: 81,246,341 (GRCm39) W904L probably benign Het
Ss18l1 G A 2: 179,696,905 (GRCm39) V109I probably benign Het
Tbx5 C T 5: 119,991,663 (GRCm39) H245Y probably damaging Het
Thumpd2 C A 17: 81,360,342 (GRCm39) L244F probably damaging Het
Tmem107 T A 11: 68,962,241 (GRCm39) V66E probably damaging Het
Tnr T C 1: 159,715,884 (GRCm39) V882A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttbk1 A G 17: 46,781,733 (GRCm39) V340A possibly damaging Het
Veph1 T C 3: 66,162,481 (GRCm39) E59G probably damaging Het
Vmn1r234 T A 17: 21,449,983 (GRCm39) M299K possibly damaging Het
Vps13b T C 15: 35,770,610 (GRCm39) Y2018H probably benign Het
Zbtb11 A G 16: 55,818,436 (GRCm39) E620G probably benign Het
Zfp418 A G 7: 7,185,627 (GRCm39) H530R possibly damaging Het
Zfp764l1 C T 7: 126,992,581 (GRCm39) A10T possibly damaging Het
Other mutations in Rhobtb1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGACGAGGAGCACATCTTTGC -3'
(R):5'- TAGAGGAATCTCAGCAGGGTCC -3'

Sequencing Primer
(F):5'- GCACATCTTTGCGCACCG -3'
(R):5'- AAAGGGCCTGACTGCATC -3'
Posted On 2018-02-27