Incidental Mutation 'IGL02732:Rhobtb3'
ID305511
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhobtb3
Ensembl Gene ENSMUSG00000021589
Gene NameRho-related BTB domain containing 3
Synonyms2610033K01Rik, 4930503C18Rik, 1700040C17Rik
Accession Numbers

Ncbi RefSeq: NM_028493.2; MGI:1920546

Is this an essential gene? Probably non essential (E-score: 0.210) question?
Stock #IGL02732
Quality Score
Status
Chromosome13
Chromosomal Location75869537-75943925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 75910937 bp
ZygosityHeterozygous
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]
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
1700007K13Rik T C 2: 28,465,180 N91S probably damaging Het
2410089E03Rik A G 15: 8,179,891 T271A probably benign Het
9230110F15Rik C T 9: 35,839,049 G109D probably damaging Het
Apoo-ps C A 13: 107,414,623 noncoding transcript Het
Ash1l T A 3: 88,966,228 V106E probably damaging Het
Baz2a A G 10: 128,125,175 T1618A possibly damaging Het
Brca1 A G 11: 101,492,219 S1732P probably benign Het
Cdh1 T A 8: 106,666,323 I813N probably damaging Het
Cdk5rap2 G A 4: 70,266,665 R1183* probably null Het
Cep170 C T 1: 176,736,874 E1479K probably damaging Het
Cep68 A T 11: 20,236,109 probably benign Het
Cog7 C T 7: 121,923,367 V750I probably benign Het
Cyb5d1 A C 11: 69,393,809 probably null Het
Dlgap4 A G 2: 156,749,323 K120E probably benign Het
Dmtf1 T C 5: 9,136,098 I75V possibly damaging Het
Fam103a1 T C 7: 81,767,725 probably null Het
Fam208b A G 13: 3,573,626 V2108A probably benign Het
Fnip2 T C 3: 79,465,697 T995A probably damaging Het
Hecw2 G A 1: 53,926,688 probably benign Het
Il17rd T A 14: 27,087,419 F111I probably damaging Het
Itgb8 A C 12: 119,163,353 M722R probably benign Het
Maip1 A G 1: 57,409,955 D165G probably damaging Het
Mcm6 A T 1: 128,359,490 C26S probably benign Het
Mdp1 T C 14: 55,659,221 I128V possibly damaging Het
Myof A T 19: 37,977,716 F385L possibly damaging Het
Nebl C T 2: 17,452,484 probably benign Het
Nusap1 A G 2: 119,635,580 E227G probably damaging Het
Olfr142 A G 2: 90,252,308 S227P probably damaging Het
Olfr594 A C 7: 103,220,240 N174T probably benign Het
Olfr631 T G 7: 103,929,129 M102R probably damaging Het
Pamr1 A T 2: 102,642,141 H595L probably benign Het
Pdgfc G A 3: 81,037,557 probably benign Het
Ptpn22 A T 3: 103,886,033 E500V probably damaging Het
Ptprg G T 14: 12,225,617 probably null Het
R3hdm2 T C 10: 127,484,060 F513L probably benign Het
Scfd1 T C 12: 51,422,973 S434P probably benign Het
Serpinb3d T A 1: 107,082,796 probably null Het
Sin3b T C 8: 72,733,453 F223L possibly damaging Het
Slc9c1 T C 16: 45,550,185 V263A possibly damaging Het
Sntb1 A G 15: 55,792,200 S207P possibly damaging Het
Sqor A T 2: 122,799,762 T1S possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,437,776 probably null Het
Tmod2 A G 9: 75,586,172 V167A possibly damaging Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Trdn G A 10: 33,468,199 probably null Het
Trim5 T A 7: 104,278,465 E156V probably benign Het
Twf1 A G 15: 94,581,009 S273P probably damaging Het
Xylt1 T C 7: 117,591,937 V320A possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Rhobtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02117:Rhobtb3 APN 13 75877428 missense probably damaging 1.00
IGL02142:Rhobtb3 APN 13 75877495 missense probably damaging 1.00
IGL02708:Rhobtb3 APN 13 75917724 missense probably damaging 0.99
IGL02969:Rhobtb3 APN 13 75943431 missense probably damaging 1.00
R0048:Rhobtb3 UTSW 13 75902245 makesense probably null
R0285:Rhobtb3 UTSW 13 75877509 missense possibly damaging 0.86
R2233:Rhobtb3 UTSW 13 75872365 missense possibly damaging 0.76
R2289:Rhobtb3 UTSW 13 75910927 missense probably damaging 0.97
R2332:Rhobtb3 UTSW 13 75910852 missense probably benign 0.44
R3684:Rhobtb3 UTSW 13 75939481 missense probably damaging 1.00
R4685:Rhobtb3 UTSW 13 75878932 nonsense probably null
R5060:Rhobtb3 UTSW 13 75913270 missense probably benign
R5374:Rhobtb3 UTSW 13 75878895 missense probably damaging 0.98
R5688:Rhobtb3 UTSW 13 75872418 missense probably benign 0.01
R6181:Rhobtb3 UTSW 13 75910689 missense probably benign 0.05
R6235:Rhobtb3 UTSW 13 75892910 missense probably damaging 0.99
R6947:Rhobtb3 UTSW 13 75910666 missense probably benign 0.14
R7032:Rhobtb3 UTSW 13 75872394 missense probably benign 0.01
R7039:Rhobtb3 UTSW 13 75872453 nonsense probably null
R7148:Rhobtb3 UTSW 13 75910887 missense probably benign
R7449:Rhobtb3 UTSW 13 75910741 missense probably benign 0.14
R7508:Rhobtb3 UTSW 13 75878857 missense probably benign 0.00
R7598:Rhobtb3 UTSW 13 75910902 missense probably benign 0.00
R7691:Rhobtb3 UTSW 13 75878937 missense probably damaging 0.99
R7770:Rhobtb3 UTSW 13 75917815 missense probably damaging 0.99
Posted On2015-04-16