Incidental Mutation 'R2312:Rhobtb1'
ID 247351
Institutional Source Beutler Lab
Gene Symbol Rhobtb1
Ensembl Gene ENSMUSG00000019944
Gene Name Rho-related BTB domain containing 1
Synonyms 3110048G13Rik, 1700008H16Rik
MMRRC Submission 040311-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.498) question?
Stock # R2312 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 68987264-69127621 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 69106293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 286 (S286*)
Ref Sequence ENSEMBL: ENSMUSP00000131222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020101] [ENSMUST00000067908] [ENSMUST00000163497] [ENSMUST00000164034] [ENSMUST00000167384] [ENSMUST00000168117]
AlphaFold Q9DAK3
Predicted Effect probably null
Transcript: ENSMUST00000020101
AA Change: S348*
SMART Domains Protein: ENSMUSP00000020101
Gene: ENSMUSG00000019944
AA Change: S348*

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 null
Transcript: ENSMUST00000067908
AA Change: S348*
SMART Domains Protein: ENSMUSP00000065095
Gene: ENSMUSG00000019944
AA Change: S348*

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 null
Transcript: ENSMUST00000164034
AA Change: S348*
SMART Domains Protein: ENSMUSP00000132068
Gene: ENSMUSG00000019944
AA Change: S348*

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 null
Transcript: ENSMUST00000167384
AA Change: S286*
SMART Domains Protein: ENSMUSP00000131222
Gene: ENSMUSG00000019944
AA Change: S286*

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 noncoding transcript
Transcript: ENSMUST00000169569
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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.5%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aqp12 A G 1: 92,934,531 (GRCm39) E136G probably benign Het
Bltp3b A G 10: 89,616,995 (GRCm39) T179A probably damaging Het
Cdhr4 G A 9: 107,872,486 (GRCm39) V244I probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Crygf A T 1: 65,965,717 (GRCm39) M1L probably benign Het
Dapk1 G T 13: 60,905,167 (GRCm39) C959F probably damaging Het
Dop1a C G 9: 86,403,495 (GRCm39) S1565* probably null Het
Eya4 A G 10: 22,982,163 (GRCm39) S622P probably damaging Het
Fbln1 T C 15: 85,147,549 (GRCm39) V598A probably benign Het
Gldc A T 19: 30,078,226 (GRCm39) F924I probably damaging Het
H1f10 T C 6: 87,958,130 (GRCm39) Y70C probably damaging Het
Herc1 C A 9: 66,415,563 (GRCm39) S4846* probably null Het
Jmjd1c A T 10: 67,074,629 (GRCm39) K1917N probably damaging Het
Kcnh2 A G 5: 24,529,952 (GRCm39) probably null Het
Lmtk2 T C 5: 144,110,444 (GRCm39) F388S probably damaging Het
Lpar1 A C 4: 58,487,168 (GRCm39) Y34* probably null Het
Lrpprc G A 17: 85,080,686 (GRCm39) P180S probably damaging Het
Mex3a A G 3: 88,443,785 (GRCm39) H287R probably damaging Het
Nid1 A G 13: 13,675,078 (GRCm39) T933A probably benign Het
Or52r1c A G 7: 102,735,633 (GRCm39) T298A probably damaging Het
Pcdhb7 A G 18: 37,475,250 (GRCm39) T129A probably benign Het
Pfkm T A 15: 98,023,456 (GRCm39) Y385N probably damaging Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Prx T C 7: 27,216,051 (GRCm39) V184A possibly damaging Het
Ptgdr A C 14: 45,096,619 (GRCm39) L31R probably damaging Het
Rab3b A G 4: 108,747,691 (GRCm39) T63A probably damaging Het
Rassf1 T C 9: 107,434,749 (GRCm39) M156T probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rmnd1 A T 10: 4,377,466 (GRCm39) M71K probably benign Het
Rnf130 T A 11: 49,978,290 (GRCm39) probably null Het
Rxrb T A 17: 34,251,103 (GRCm39) probably benign Het
Ryr2 G T 13: 11,753,128 (GRCm39) T1731K probably damaging Het
Serpine2 A T 1: 79,780,570 (GRCm39) L293Q probably damaging Het
Skint6 T C 4: 113,095,339 (GRCm39) T107A probably damaging Het
Slc9a8 T A 2: 167,293,196 (GRCm39) H181Q probably benign Het
Spaca3 A T 11: 80,754,037 (GRCm39) Y58F possibly damaging Het
Sptbn1 T C 11: 30,104,249 (GRCm39) T152A probably damaging Het
Tlr2 A G 3: 83,744,847 (GRCm39) L412P probably damaging Het
Trak2 A G 1: 58,974,941 (GRCm39) S84P probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Trpm2 C A 10: 77,754,798 (GRCm39) E1229D probably benign Het
Ttc14 A G 3: 33,861,984 (GRCm39) probably null Het
Tyrp1 G A 4: 80,755,801 (GRCm39) W190* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vegfb C A 19: 6,962,795 (GRCm39) R160L possibly damaging Het
Vmn1r220 A G 13: 23,368,147 (GRCm39) M183T probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt10a C A 1: 74,842,589 (GRCm39) A355E 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
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'- CATGACGAGGAGCACATCTTTG -3'
(R):5'- GTAGAGGAATCTCAGCAGGGTC -3'

Sequencing Primer
(F):5'- GCACATCTTTGCGCACCG -3'
(R):5'- AAAGGGCCTGACTGCATC -3'
Posted On 2014-11-11