Incidental Mutation 'IGL02117:Rhobtb3'
ID 280429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhobtb3
Ensembl Gene ENSMUSG00000021589
Gene Name Rho-related BTB domain containing 3
Synonyms 4930503C18Rik, 1700040C17Rik, 2610033K01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.148) question?
Stock # IGL02117
Quality Score
Status
Chromosome 13
Chromosomal Location 76017656-76092044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76025547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 523 (S523N)
Ref Sequence ENSEMBL: ENSMUSP00000022078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022078]
AlphaFold Q9CTN4
Predicted Effect probably damaging
Transcript: ENSMUST00000022078
AA Change: S523N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: S523N

DomainStartEndE-ValueType
Pfam:Ras 47 195 9e-7 PFAM
Blast:BTB 254 406 2e-95 BLAST
BTB 420 518 3.12e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123353
Predicted Effect probably benign
Transcript: ENSMUST00000220939
Predicted Effect probably benign
Transcript: ENSMUST00000222923
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RHOBTB3 is a member of the evolutionarily conserved RHOBTB subfamily of Rho GTPases. For background information on RHOBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality, reduced body weight and slightly reduced organ weights that varies by sex. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(2) Gene trapped(1)

Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T A 2: 151,315,466 (GRCm39) M71L probably benign Het
Abcb11 A G 2: 69,154,169 (GRCm39) probably benign Het
Ago4 T C 4: 126,410,645 (GRCm39) T249A probably benign Het
Ahr A T 12: 35,562,922 (GRCm39) C92* probably null Het
Arhgap17 G A 7: 122,885,996 (GRCm39) probably benign Het
Arid1a G T 4: 133,420,126 (GRCm39) T992K unknown Het
Camk2a A G 18: 61,111,061 (GRCm39) I83M probably damaging Het
Ccdc154 T C 17: 25,386,792 (GRCm39) probably null Het
Chtf18 T C 17: 25,941,177 (GRCm39) H607R possibly damaging Het
Col25a1 T C 3: 130,313,422 (GRCm39) probably benign Het
Col9a1 C T 1: 24,276,574 (GRCm39) Q530* probably null Het
Cryl1 G T 14: 57,523,904 (GRCm39) D219E probably damaging Het
Cul3 A T 1: 80,300,781 (GRCm39) probably benign Het
Cul9 C A 17: 46,851,301 (GRCm39) R373L probably benign Het
Exo1 A G 1: 175,721,309 (GRCm39) Y316C possibly damaging Het
Fam114a1 G A 5: 65,187,465 (GRCm39) V408M probably benign Het
Hmcn2 A T 2: 31,347,185 (GRCm39) S4792C possibly damaging Het
Hps5 A G 7: 46,432,940 (GRCm39) F260S probably damaging Het
Hrh4 T C 18: 13,155,477 (GRCm39) S339P probably benign Het
Ist1 A T 8: 110,405,584 (GRCm39) L152Q probably damaging Het
Marco A G 1: 120,418,683 (GRCm39) V190A probably benign Het
Mdn1 T C 4: 32,709,364 (GRCm39) V1711A probably benign Het
Mmp9 A G 2: 164,791,644 (GRCm39) Y179C probably damaging Het
Mrgprb5 A G 7: 47,818,742 (GRCm39) probably benign Het
Mrgprx1 G T 7: 47,671,371 (GRCm39) C125* probably null Het
Msh6 A G 17: 88,298,234 (GRCm39) probably benign Het
Myot C A 18: 44,488,177 (GRCm39) R441S probably benign Het
Or11g7 A G 14: 50,691,399 (GRCm39) R297G possibly damaging Het
Paf1 A G 7: 28,098,115 (GRCm39) probably benign Het
Pde11a A G 2: 75,821,606 (GRCm39) L891P probably damaging Het
Prkar2a T A 9: 108,596,460 (GRCm39) I135N probably damaging Het
Rap1gap C T 4: 137,454,355 (GRCm39) T646M probably damaging Het
Rgs7bp T C 13: 105,088,087 (GRCm39) D229G possibly damaging Het
Setd7 A T 3: 51,428,826 (GRCm39) Y335N probably damaging Het
Setdb2 C T 14: 59,639,764 (GRCm39) R709Q probably damaging Het
Socs4 T C 14: 47,528,264 (GRCm39) Y400H probably damaging Het
Spag16 A T 1: 69,909,479 (GRCm39) H192L probably damaging Het
Ssh1 A T 5: 114,084,541 (GRCm39) C566* probably null Het
Stap1 T G 5: 86,234,552 (GRCm39) I98S possibly damaging Het
Tgs1 C T 4: 3,585,836 (GRCm39) H238Y probably damaging Het
Tifab T C 13: 56,324,275 (GRCm39) Y56C probably benign Het
Tssk2 A G 16: 17,717,653 (GRCm39) E352G probably benign Het
Vmn2r57 A T 7: 41,049,874 (GRCm39) V625D probably benign Het
Wbp1l T C 19: 46,632,876 (GRCm39) Y75H probably benign Het
Wnt5a T C 14: 28,228,077 (GRCm39) probably benign Het
Other mutations in Rhobtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Rhobtb3 APN 13 76,025,614 (GRCm39) missense probably damaging 1.00
IGL02708:Rhobtb3 APN 13 76,065,843 (GRCm39) missense probably damaging 0.99
IGL02732:Rhobtb3 APN 13 76,059,056 (GRCm39) missense probably damaging 1.00
IGL02969:Rhobtb3 APN 13 76,091,550 (GRCm39) missense probably damaging 1.00
R0048:Rhobtb3 UTSW 13 76,050,364 (GRCm39) makesense probably null
R0285:Rhobtb3 UTSW 13 76,025,628 (GRCm39) missense possibly damaging 0.86
R2233:Rhobtb3 UTSW 13 76,020,484 (GRCm39) missense possibly damaging 0.76
R2289:Rhobtb3 UTSW 13 76,059,046 (GRCm39) missense probably damaging 0.97
R2332:Rhobtb3 UTSW 13 76,058,971 (GRCm39) missense probably benign 0.44
R3684:Rhobtb3 UTSW 13 76,087,600 (GRCm39) missense probably damaging 1.00
R4685:Rhobtb3 UTSW 13 76,027,051 (GRCm39) nonsense probably null
R5060:Rhobtb3 UTSW 13 76,061,389 (GRCm39) missense probably benign
R5374:Rhobtb3 UTSW 13 76,027,014 (GRCm39) missense probably damaging 0.98
R5688:Rhobtb3 UTSW 13 76,020,537 (GRCm39) missense probably benign 0.01
R6181:Rhobtb3 UTSW 13 76,058,808 (GRCm39) missense probably benign 0.05
R6235:Rhobtb3 UTSW 13 76,041,029 (GRCm39) missense probably damaging 0.99
R6947:Rhobtb3 UTSW 13 76,058,785 (GRCm39) missense probably benign 0.14
R7032:Rhobtb3 UTSW 13 76,020,513 (GRCm39) missense probably benign 0.01
R7039:Rhobtb3 UTSW 13 76,020,572 (GRCm39) nonsense probably null
R7148:Rhobtb3 UTSW 13 76,059,006 (GRCm39) missense probably benign
R7449:Rhobtb3 UTSW 13 76,058,860 (GRCm39) missense probably benign 0.14
R7508:Rhobtb3 UTSW 13 76,026,976 (GRCm39) missense probably benign 0.00
R7598:Rhobtb3 UTSW 13 76,059,021 (GRCm39) missense probably benign 0.00
R7691:Rhobtb3 UTSW 13 76,027,056 (GRCm39) missense probably damaging 0.99
R7770:Rhobtb3 UTSW 13 76,065,934 (GRCm39) missense probably damaging 0.99
R8465:Rhobtb3 UTSW 13 76,087,741 (GRCm39) missense probably damaging 1.00
R9098:Rhobtb3 UTSW 13 76,087,702 (GRCm39) missense probably damaging 1.00
R9133:Rhobtb3 UTSW 13 76,020,512 (GRCm39) missense probably damaging 1.00
R9169:Rhobtb3 UTSW 13 76,041,121 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16