Incidental Mutation 'IGL02393:Rhobtb1'
ID 293878
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 # IGL02393
Quality Score
Status
Chromosome 10
Chromosomal Location 68987264-69127621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69124817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 555 (H555L)
Ref Sequence ENSEMBL: ENSMUSP00000131222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163760] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000168117]
AlphaFold Q9DAK3
Predicted Effect probably damaging
Transcript: ENSMUST00000020101
AA Change: H617L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: H617L

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: H617L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: H617L

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: ENSMUST00000163760
SMART Domains Protein: ENSMUSP00000127904
Gene: ENSMUSG00000019944

DomainStartEndE-ValueType
Pfam:BTB 1 58 3.8e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164034
AA Change: H617L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: H617L

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: ENSMUST00000165765
Predicted Effect probably damaging
Transcript: ENSMUST00000167384
AA Change: H555L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: H555L

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
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 25,410,069 (GRCm39) Y129N probably damaging Het
Afap1l2 T C 19: 56,902,872 (GRCm39) K695R probably damaging Het
Arhgap18 T G 10: 26,753,179 (GRCm39) S357R probably benign Het
Camsap1 T C 2: 25,828,334 (GRCm39) H1130R probably benign Het
Cdkl4 A G 17: 80,867,844 (GRCm39) F35L probably damaging Het
Crnn A G 3: 93,056,675 (GRCm39) H487R probably damaging Het
Dcaf4 C T 12: 83,576,805 (GRCm39) P95L probably damaging Het
Deaf1 A T 7: 140,893,246 (GRCm39) V382E possibly damaging Het
Dph7 T G 2: 24,856,609 (GRCm39) V187G possibly damaging Het
Fat3 G T 9: 15,899,708 (GRCm39) C3108* probably null Het
Ggt5 T C 10: 75,446,071 (GRCm39) probably benign Het
Kif26a G A 12: 112,139,098 (GRCm39) V396M probably damaging Het
Med17 G A 9: 15,188,963 (GRCm39) R101* probably null Het
Mterf4 C T 1: 93,230,601 (GRCm39) V182I possibly damaging Het
Nsg1 T C 5: 38,316,255 (GRCm39) D32G probably damaging Het
Or5k8 A G 16: 58,644,409 (GRCm39) I221T probably damaging Het
Or6c3 T C 10: 129,309,064 (GRCm39) S168P probably damaging Het
Or6c65 T A 10: 129,603,662 (GRCm39) V99E probably benign Het
P3h2 T C 16: 25,811,575 (GRCm39) Y216C probably damaging Het
Pdzd9 A C 7: 120,262,206 (GRCm39) Y85* probably null Het
Prkdc T A 16: 15,634,622 (GRCm39) V3589D probably benign Het
Qars1 A G 9: 108,391,528 (GRCm39) T26A probably benign Het
Relch A G 1: 105,615,093 (GRCm39) I253M probably damaging Het
Rhd T C 4: 134,611,406 (GRCm39) S189P probably benign Het
Rogdi G A 16: 4,827,088 (GRCm39) S306F probably benign Het
Slc25a25 C T 2: 32,307,855 (GRCm39) V259I probably benign Het
Srrm1 A T 4: 135,048,725 (GRCm39) probably benign Het
Stkld1 T C 2: 26,840,154 (GRCm39) V408A probably benign Het
Thbs1 T C 2: 117,953,580 (GRCm39) V999A possibly damaging Het
Tmprss11d T A 5: 86,451,471 (GRCm39) *280L probably null Het
Trim54 A G 5: 31,289,324 (GRCm39) probably benign Het
Tspear G A 10: 77,672,407 (GRCm39) R202H probably damaging Het
Vwa8 G A 14: 79,420,417 (GRCm39) G1706D probably 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
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 2015-04-16