Incidental Mutation 'IGL02732:Rhobtb3'
ID 305511
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 # IGL02732
Quality Score
Status
Chromosome 13
Chromosomal Location 76017656-76092044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76059056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 247 (L247F)
Ref Sequence ENSEMBL: ENSMUSP00000022078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022078] [ENSMUST00000109606]
AlphaFold Q9CTN4
Predicted Effect probably damaging
Transcript: ENSMUST00000022078
AA Change: L247F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: L247F

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 probably benign
Transcript: ENSMUST00000109606
SMART Domains Protein: ENSMUSP00000105235
Gene: ENSMUSG00000021589

DomainStartEndE-ValueType
Pfam:Ras 45 195 1.3e-7 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000220939
AA Change: L55F
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apoo-ps C A 13: 107,551,123 (GRCm39) noncoding transcript Het
Ash1l T A 3: 88,873,535 (GRCm39) V106E probably damaging Het
Baz2a A G 10: 127,961,044 (GRCm39) T1618A possibly damaging Het
Brca1 A G 11: 101,383,045 (GRCm39) S1732P probably benign Het
Cdh1 T A 8: 107,392,955 (GRCm39) I813N probably damaging Het
Cdk5rap2 G A 4: 70,184,902 (GRCm39) R1183* probably null Het
Cep170 C T 1: 176,564,440 (GRCm39) E1479K probably damaging Het
Cep68 A T 11: 20,186,109 (GRCm39) probably benign Het
Cog7 C T 7: 121,522,590 (GRCm39) V750I probably benign Het
Cplane1 A G 15: 8,209,375 (GRCm39) T271A probably benign Het
Cyb5d1 A C 11: 69,284,635 (GRCm39) probably null Het
Dlgap4 A G 2: 156,591,243 (GRCm39) K120E probably benign Het
Dmtf1 T C 5: 9,186,098 (GRCm39) I75V possibly damaging Het
Fnip2 T C 3: 79,373,004 (GRCm39) T995A probably damaging Het
Hecw2 G A 1: 53,965,847 (GRCm39) probably benign Het
Il17rd T A 14: 26,809,376 (GRCm39) F111I probably damaging Het
Itgb8 A C 12: 119,127,088 (GRCm39) M722R probably benign Het
Maip1 A G 1: 57,449,114 (GRCm39) D165G probably damaging Het
Mcm6 A T 1: 128,287,227 (GRCm39) C26S probably benign Het
Mdp1 T C 14: 55,896,678 (GRCm39) I128V possibly damaging Het
Myof A T 19: 37,966,164 (GRCm39) F385L possibly damaging Het
Nebl C T 2: 17,457,295 (GRCm39) probably benign Het
Nusap1 A G 2: 119,466,061 (GRCm39) E227G probably damaging Het
Or4b13 A G 2: 90,082,652 (GRCm39) S227P probably damaging Het
Or51m1 T G 7: 103,578,336 (GRCm39) M102R probably damaging Het
Or52e3 A C 7: 102,869,447 (GRCm39) N174T probably benign Het
Pamr1 A T 2: 102,472,486 (GRCm39) H595L probably benign Het
Pate5 C T 9: 35,750,345 (GRCm39) G109D probably damaging Het
Pdgfc G A 3: 80,944,864 (GRCm39) probably benign Het
Pierce1 T C 2: 28,355,192 (GRCm39) N91S probably damaging Het
Ptpn22 A T 3: 103,793,349 (GRCm39) E500V probably damaging Het
Ptprg G T 14: 12,225,617 (GRCm38) probably null Het
R3hdm2 T C 10: 127,319,929 (GRCm39) F513L probably benign Het
Ramac T C 7: 81,417,473 (GRCm39) probably null Het
Scfd1 T C 12: 51,469,756 (GRCm39) S434P probably benign Het
Serpinb3d T A 1: 107,010,526 (GRCm39) probably null Het
Sin3b T C 8: 73,460,081 (GRCm39) F223L possibly damaging Het
Slc9c1 T C 16: 45,370,548 (GRCm39) V263A possibly damaging Het
Sntb1 A G 15: 55,655,596 (GRCm39) S207P possibly damaging Het
Sqor A T 2: 122,641,682 (GRCm39) T1S possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,328,602 (GRCm39) probably null Het
Tasor2 A G 13: 3,623,626 (GRCm39) V2108A probably benign Het
Tmod2 A G 9: 75,493,454 (GRCm39) V167A possibly damaging Het
Trak2 G A 1: 58,949,222 (GRCm39) T526M probably benign Het
Trdn G A 10: 33,344,195 (GRCm39) probably null Het
Trim5 T A 7: 103,927,672 (GRCm39) E156V probably benign Het
Twf1 A G 15: 94,478,890 (GRCm39) S273P probably damaging Het
Xylt1 T C 7: 117,191,164 (GRCm39) V320A possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Rhobtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Rhobtb3 APN 13 76,025,547 (GRCm39) missense probably damaging 1.00
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
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