Incidental Mutation 'IGL02708:Rhobtb3'
ID304458
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: 0.216) question?
Stock #IGL02708
Quality Score
Status
Chromosome13
Chromosomal Location75869537-75943925 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 75917724 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 180 (D180G)
Ref Sequence ENSEMBL: ENSMUSP00000022078 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022078] [ENSMUST00000109606]
Predicted Effect probably damaging
Transcript: ENSMUST00000022078
AA Change: D180G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022078
Gene: ENSMUSG00000021589
AA Change: D180G

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 damaging
Transcript: ENSMUST00000109606
AA Change: D180G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105235
Gene: ENSMUSG00000021589
AA Change: D180G

DomainStartEndE-ValueType
Pfam:Ras 45 195 1.3e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220939
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,500,801 V1104D probably damaging Het
Adgrl2 A T 3: 148,826,525 V1024E probably damaging Het
Agbl2 A G 2: 90,801,342 H348R probably benign Het
Aifm2 T C 10: 61,738,575 probably benign Het
Ankrd26 T C 6: 118,518,418 probably benign Het
Avpr1b A G 1: 131,600,651 D304G probably damaging Het
Duox1 A G 2: 122,326,017 D475G possibly damaging Het
E2f8 T C 7: 48,867,234 probably null Het
Fat2 T A 11: 55,282,385 I2501F probably damaging Het
Gm13119 T A 4: 144,363,413 L341H probably damaging Het
Gm4181 A G 14: 51,633,232 C91R probably benign Het
Gm5424 T A 10: 62,071,611 noncoding transcript Het
Gnai3 A G 3: 108,118,344 F140L probably benign Het
Htra1 A T 7: 130,962,035 D212V probably damaging Het
Irgm2 T C 11: 58,220,524 V347A probably benign Het
Itch A G 2: 155,174,044 T150A probably benign Het
Itgb3 A C 11: 104,637,829 I261L possibly damaging Het
Kalrn C T 16: 34,392,050 V31M probably damaging Het
Klra7 C T 6: 130,226,500 C181Y probably damaging Het
Klrb1 A G 6: 128,713,585 L58S probably benign Het
Kndc1 A G 7: 139,901,181 E61G probably damaging Het
Krt78 T A 15: 101,953,407 T135S possibly damaging Het
Mpdz A G 4: 81,284,571 probably null Het
Mphosph6 A G 8: 117,792,786 probably benign Het
Myo19 T C 11: 84,899,396 S393P possibly damaging Het
Olfr586 A G 7: 103,121,820 probably benign Het
Olfr968 T C 9: 39,771,918 N294S probably damaging Het
Pkdrej T C 15: 85,820,787 Y316C probably damaging Het
Pkp3 A T 7: 141,089,768 probably benign Het
Ppil2 A T 16: 17,106,008 V59D probably benign Het
Psmb8 A G 17: 34,201,243 K270E probably benign Het
Ptprq T C 10: 107,652,700 N959D probably damaging Het
Rab6b T G 9: 103,160,875 probably null Het
Sccpdh G A 1: 179,680,509 C238Y probably benign Het
Srm C T 4: 148,593,346 S147L probably benign Het
Synj1 A T 16: 90,991,462 S173T probably damaging Het
Tas1r1 T C 4: 152,028,340 E752G possibly damaging Het
Tmem151a G T 19: 5,082,847 Y110* probably null Het
Ttn A G 2: 76,726,613 V30016A probably damaging Het
Txnrd2 A G 16: 18,468,840 E331G probably benign Het
Vldlr T C 19: 27,238,085 C161R possibly damaging Het
Vmn1r91 T A 7: 20,101,490 S111R probably damaging Het
Vmn2r66 T A 7: 85,006,588 I407F probably benign Het
Vps13d T C 4: 145,128,280 M2258V probably benign 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
IGL02732:Rhobtb3 APN 13 75910937 missense probably damaging 1.00
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