Incidental Mutation 'IGL01924:Rhobtb1'
ID 180199
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01924
Quality Score
Status
Chromosome 10
Chromosomal Location 68987264-69127621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69106134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 233 (L233H)
Ref Sequence ENSEMBL: ENSMUSP00000131222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000168117]
AlphaFold Q9DAK3
Predicted Effect probably damaging
Transcript: ENSMUST00000020101
AA Change: L295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: L295H

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 damaging
Transcript: ENSMUST00000067908
AA Change: L295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: L295H

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 damaging
Transcript: ENSMUST00000164034
AA Change: L295H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: L295H

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 damaging
Transcript: ENSMUST00000167384
AA Change: L233H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: L233H

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
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,362,047 (GRCm39) probably benign Het
Adamts13 A G 2: 26,886,595 (GRCm39) E938G possibly damaging Het
Aox1 C T 1: 58,326,902 (GRCm39) T167I possibly damaging Het
Apba3 G T 10: 81,108,907 (GRCm39) A557S probably benign Het
Atad2b T C 12: 5,084,093 (GRCm39) L1382P probably damaging Het
Atrn C T 2: 130,777,485 (GRCm39) T178I probably damaging Het
B4galnt1 A G 10: 127,002,630 (GRCm39) S88G probably benign Het
Baz2b T C 2: 59,765,615 (GRCm39) K887E probably damaging Het
Castor2 T C 5: 134,164,441 (GRCm39) F134S probably benign Het
Ccdc162 A C 10: 41,445,883 (GRCm39) F430V probably damaging Het
Cdc42bpb T A 12: 111,283,887 (GRCm39) probably benign Het
Cfhr4 G A 1: 139,666,944 (GRCm39) L444F probably damaging Het
Chit1 A G 1: 134,077,148 (GRCm39) D317G probably benign Het
Chrnb1 A T 11: 69,685,845 (GRCm39) probably benign Het
Cobl G T 11: 12,204,596 (GRCm39) T620K probably benign Het
Creld1 T C 6: 113,460,921 (GRCm39) F20L probably benign Het
Csmd2 A T 4: 128,453,740 (GRCm39) D3475V unknown Het
Cyp3a57 A G 5: 145,309,439 (GRCm39) D259G probably benign Het
Dbnl A G 11: 5,747,142 (GRCm39) Y224C probably damaging Het
Det1 A T 7: 78,493,571 (GRCm39) C144* probably null Het
Fbxo47 G T 11: 97,746,986 (GRCm39) A360D probably damaging Het
Frrs1 G A 3: 116,678,888 (GRCm39) G237R probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Gria2 T C 3: 80,617,638 (GRCm39) T372A probably benign Het
Hmcn2 A T 2: 31,288,929 (GRCm39) Q2246L probably benign Het
Ide T C 19: 37,249,563 (GRCm39) M930V unknown Het
Kdm5a T C 6: 120,371,216 (GRCm39) probably null Het
Khnyn A G 14: 56,132,426 (GRCm39) T625A probably benign Het
Lrrtm1 T C 6: 77,221,169 (GRCm39) F209L possibly damaging Het
Med13 C A 11: 86,199,522 (GRCm39) probably benign Het
Myom2 A G 8: 15,119,685 (GRCm39) E147G probably benign Het
Myrip T A 9: 120,217,330 (GRCm39) V88D probably damaging Het
Nbeal2 T C 9: 110,460,482 (GRCm39) H1784R probably benign Het
Nlrp4e T A 7: 23,020,255 (GRCm39) C247* probably null Het
Nup54 G A 5: 92,572,294 (GRCm39) P252L probably benign Het
Or51ag1 A G 7: 103,156,003 (GRCm39) I50T possibly damaging Het
Otoa C A 7: 120,705,191 (GRCm39) N244K probably damaging Het
Pbrm1 G A 14: 30,804,561 (GRCm39) R960H probably damaging Het
Ptcd3 A T 6: 71,875,411 (GRCm39) N190K probably damaging Het
Sec24c T A 14: 20,739,757 (GRCm39) F545I probably damaging Het
Slc6a15 T C 10: 103,240,686 (GRCm39) probably null Het
Slitrk1 G A 14: 109,148,671 (GRCm39) A680V probably benign Het
Smpd1 C T 7: 105,204,655 (GRCm39) S178L probably benign Het
Spindoc A G 19: 7,360,042 (GRCm39) L42P probably damaging Het
Tenm4 A G 7: 96,544,419 (GRCm39) E2145G probably damaging Het
Tmem144 G T 3: 79,746,501 (GRCm39) A18E probably damaging Het
Tmem213 A T 6: 38,086,373 (GRCm39) S10C possibly damaging Het
Trav6-3 A T 14: 53,667,800 (GRCm39) I102L probably benign Het
Trip11 T G 12: 101,853,143 (GRCm39) N483T possibly damaging Het
Unc13b C T 4: 43,239,385 (GRCm39) R1056* probably null Het
Wdr27 T G 17: 15,137,488 (GRCm39) K433N probably damaging Het
Wls C A 3: 159,607,080 (GRCm39) S189* probably null Het
Yeats2 A G 16: 20,024,917 (GRCm39) N706D probably damaging Het
Zbp1 A G 2: 173,054,047 (GRCm39) V158A probably benign Het
Zfp595 G T 13: 67,465,847 (GRCm39) H139N 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
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
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
Posted On 2014-05-07