Incidental Mutation 'R7427:Rhobtb1'
ID 576190
Institutional Source Beutler Lab
Gene Symbol Rhobtb1
Ensembl Gene ENSMUSG00000019944
Gene Name Rho-related BTB domain containing 1
Synonyms 3110048G13Rik, 1700008H16Rik
MMRRC Submission 045505-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R7427 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 68987264-69127621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 69084654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 15 (I15N)
Ref Sequence ENSEMBL: ENSMUSP00000020101 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000164212] [ENSMUST00000167286] [ENSMUST00000167384] [ENSMUST00000168117] [ENSMUST00000172261]
AlphaFold Q9DAK3
Predicted Effect probably damaging
Transcript: ENSMUST00000020101
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: I15N

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: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: I15N

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: ENSMUST00000163497
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129119
Gene: ENSMUSG00000019944
AA Change: I15N

DomainStartEndE-ValueType
Pfam:Ras 16 96 1.8e-5 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164034
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: I15N

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: ENSMUST00000164212
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128356
Gene: ENSMUSG00000019944
AA Change: I15N

DomainStartEndE-ValueType
Pfam:Ras 16 94 1.8e-5 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167286
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131313
Gene: ENSMUSG00000019944
AA Change: I15N

DomainStartEndE-ValueType
Pfam:Ras 16 93 1.7e-5 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000167384
AA Change: I15N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: I15N

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 damaging
Transcript: ENSMUST00000168117
AA Change: I15N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131509
Gene: ENSMUSG00000019944
AA Change: I15N

DomainStartEndE-ValueType
Pfam:Ras 16 97 1.9e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000172261
AA Change: I15N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128667
Gene: ENSMUSG00000019944
AA Change: I15N

DomainStartEndE-ValueType
Pfam:Ras 16 95 1.8e-5 PFAM
Meta Mutation Damage Score 0.9476 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 T A 15: 76,478,585 (GRCm39) C318S possibly damaging Het
Aspm T A 1: 139,385,354 (GRCm39) C333S probably benign Het
B3gnt4 A G 5: 123,648,794 (GRCm39) N53S probably damaging Het
Bpifb5 G A 2: 154,067,042 (GRCm39) M98I probably benign Het
Cacna2d3 A G 14: 28,786,232 (GRCm39) M585T probably damaging Het
Cbarp T C 10: 79,967,138 (GRCm39) D701G probably damaging Het
Ccn2 T G 10: 24,473,397 (GRCm39) M312R probably damaging Het
Cntrl T A 2: 35,060,546 (GRCm39) W1913R probably benign Het
Cry2 T C 2: 92,243,392 (GRCm39) D483G possibly damaging Het
Csmd1 A G 8: 16,073,864 (GRCm39) F2044L possibly damaging Het
Cxcl16 A G 11: 70,349,630 (GRCm39) V78A possibly damaging Het
Cxcr6 A T 9: 123,639,305 (GRCm39) Y109F probably benign Het
Cyb5b A G 8: 107,897,048 (GRCm39) D106G probably benign Het
D630036H23Rik T C 12: 36,431,537 (GRCm39) R154G unknown Het
Dnah9 T C 11: 65,846,045 (GRCm39) T2998A probably benign Het
Focad T C 4: 88,286,988 (GRCm39) S1254P unknown Het
Gm21886 A T 18: 80,132,867 (GRCm39) L97Q probably damaging Het
Gpr158 A C 2: 21,832,129 (GRCm39) L1076F probably benign Het
Hivep2 T C 10: 14,009,485 (GRCm39) M1714T possibly damaging Het
Hlcs A G 16: 94,068,758 (GRCm39) V154A probably benign Het
Hpdl A T 4: 116,678,062 (GRCm39) L133Q probably damaging Het
Il1rn C A 2: 24,239,554 (GRCm39) T150K probably benign Het
Il6st A G 13: 112,625,094 (GRCm39) I237V probably benign Het
Inpp5f A G 7: 128,281,529 (GRCm39) D510G probably damaging Het
Ism2 G T 12: 87,333,769 (GRCm39) T92K possibly damaging Het
Kif13b T C 14: 65,025,909 (GRCm39) I1422T probably benign Het
Kit G A 5: 75,806,507 (GRCm39) V671I possibly damaging Het
Klhdc8a A T 1: 132,230,705 (GRCm39) N190I probably damaging Het
Lad1 C T 1: 135,753,576 (GRCm39) T41I probably damaging Het
Lrrc7 G T 3: 157,903,778 (GRCm39) T294K probably benign Het
Megf8 C T 7: 25,037,796 (GRCm39) R771C probably benign Het
Micu3 A C 8: 40,831,955 (GRCm39) N440T possibly damaging Het
Mnx1 T C 5: 29,679,211 (GRCm39) N291D unknown Het
Mthfr A G 4: 148,136,060 (GRCm39) M378V probably benign Het
Mup2 A T 4: 60,138,454 (GRCm39) D79E probably benign Het
Myzap T C 9: 71,412,465 (GRCm39) T451A probably benign Het
Nlrp9c T C 7: 26,070,860 (GRCm39) D907G probably benign Het
Nr1h4 T C 10: 89,334,267 (GRCm39) E41G probably benign Het
Nup98 A T 7: 101,784,208 (GRCm39) probably null Het
Nxpe5 A C 5: 138,238,022 (GRCm39) Y194S probably damaging Het
Omd A T 13: 49,745,745 (GRCm39) E385V possibly damaging Het
Or12d15 T C 17: 37,694,190 (GRCm39) V244A probably damaging Het
Or12e9 G T 2: 87,202,034 (GRCm39) V53L probably benign Het
Or2av9 A G 11: 58,380,606 (GRCm39) I325T probably benign Het
Or52m1 A G 7: 102,289,533 (GRCm39) I27V probably benign Het
Or5m12 T A 2: 85,734,475 (GRCm39) R308* probably null Het
Or5m3 A T 2: 85,838,563 (GRCm39) I148L probably benign Het
Or9s18 A G 13: 65,300,866 (GRCm39) Y276C probably damaging Het
Pcdh9 G T 14: 94,124,547 (GRCm39) T541K probably damaging Het
Pdia6 T C 12: 17,328,546 (GRCm39) V167A probably damaging Het
Phf7 C T 14: 30,962,370 (GRCm39) R145Q possibly damaging Het
Pitx3 T C 19: 46,125,863 (GRCm39) D20G possibly damaging Het
Plxnb1 T C 9: 108,937,236 (GRCm39) V1139A probably benign Het
Pon2 A T 6: 5,268,995 (GRCm39) N226K probably damaging Het
Potegl C T 2: 23,147,006 (GRCm39) R337C probably benign Het
Ppp1r10 T A 17: 36,241,025 (GRCm39) H642Q possibly damaging Het
Prom2 A G 2: 127,381,731 (GRCm39) L195P probably damaging Het
Psg23 C T 7: 18,345,908 (GRCm39) probably null Het
Rfx4 C A 10: 84,731,876 (GRCm39) Q618K probably benign Het
Rhot2 A T 17: 26,060,583 (GRCm39) V233E probably damaging Het
Ripply2 T C 9: 86,901,809 (GRCm39) S112P possibly damaging Het
Slc12a1 C A 2: 125,056,052 (GRCm39) T861N probably benign Het
Slc35f1 T A 10: 52,965,510 (GRCm39) S308R probably damaging Het
Slc35f4 T A 14: 49,536,355 (GRCm39) I427F probably damaging Het
Slco1a8 T G 6: 141,949,234 (GRCm39) probably null Het
Sned1 G A 1: 93,217,080 (GRCm39) V1322I probably benign Het
Sprr2f G A 3: 92,273,251 (GRCm39) V17M unknown Het
Srd5a3 A G 5: 76,302,490 (GRCm39) H285R probably benign Het
Stab1 T C 14: 30,881,216 (GRCm39) T605A probably benign Het
Syne1 T C 10: 5,223,718 (GRCm39) Q3054R probably damaging Het
Tas1r1 T C 4: 152,122,765 (GRCm39) T27A probably benign Het
Tmem150b A T 7: 4,719,209 (GRCm39) V237E probably benign Het
Trpv6 C T 6: 41,602,087 (GRCm39) M407I probably benign Het
Ttn T G 2: 76,550,698 (GRCm39) D31528A probably damaging Het
Uroc1 A T 6: 90,323,344 (GRCm39) D354V possibly damaging Het
Vmn2r69 T C 7: 85,060,467 (GRCm39) I372M probably benign Het
Vmn2r93 A T 17: 18,546,672 (GRCm39) H848L probably benign Het
Zfp971 T A 2: 177,674,967 (GRCm39) C189S 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
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
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'- AGCTTGAGTTTCCCTTCCAAAC -3'
(R):5'- CAACAGTGATGGCCAAAGTATTC -3'

Sequencing Primer
(F):5'- AAACTTCTTGCCCGTGCC -3'
(R):5'- CAGGGTCTCAAGTAGCTCAG -3'
Posted On 2019-10-07