Incidental Mutation 'IGL02437:Rhobtb2'
ID293299
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhobtb2
Ensembl Gene ENSMUSG00000022075
Gene NameRho-related BTB domain containing 2
SynonymsDbc2, E130206H14Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02437
Quality Score
Status
Chromosome14
Chromosomal Location69784990-69805636 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69795916 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 535 (E535G)
Ref Sequence ENSEMBL: ENSMUSP00000022665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022665]
Predicted Effect probably damaging
Transcript: ENSMUST00000022665
AA Change: E535G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022665
Gene: ENSMUSG00000022075
AA Change: E535G

DomainStartEndE-ValueType
RHO 17 210 4.86e-36 SMART
low complexity region 227 249 N/A INTRINSIC
BTB 266 472 5.27e-15 SMART
BTB 500 598 2.78e-14 SMART
low complexity region 706 726 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223603
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225088
Coding Region Coverage
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 is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Abca16 T G 7: 120,533,729 C1294G probably benign Het
Abca7 T A 10: 80,008,389 S1410T probably damaging Het
Abhd12 T C 2: 150,834,369 D356G probably benign Het
BC004004 T C 17: 29,298,697 L295P probably damaging Het
Bpifc T C 10: 85,988,731 S215G probably damaging Het
Bptf C T 11: 107,074,695 M1109I probably benign Het
Brat1 C T 5: 140,712,808 A245V possibly damaging Het
Cask G A X: 13,537,621 T16I probably damaging Het
Clic6 A T 16: 92,530,929 I541F probably damaging Het
Clnk C T 5: 38,774,566 probably null Het
Cntnap1 T A 11: 101,186,851 I1113N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26a1 T C 19: 37,698,495 S132P probably benign Het
Cyp4f13 G T 17: 32,930,608 H85N probably benign Het
Dcaf15 C T 8: 84,101,816 G215D probably damaging Het
Dip2a T C 10: 76,298,267 T500A probably benign Het
Fam92b T C 8: 120,174,786 E60G probably damaging Het
Gbe1 T A 16: 70,434,658 probably benign Het
Gli2 T A 1: 118,836,003 I1473F probably damaging Het
Gm5129 A T 5: 29,735,863 probably benign Het
Hdgf C T 3: 87,914,485 R168C probably damaging Het
Heph A G X: 96,473,027 T342A probably benign Het
Kdelr3 T C 15: 79,525,787 Y158H probably damaging Het
Lamb3 C T 1: 193,327,945 R289C probably damaging Het
Leng8 C T 7: 4,142,093 A164V probably damaging Het
Ltn1 T C 16: 87,398,001 T1337A probably benign Het
Mast3 C A 8: 70,780,558 R316L possibly damaging Het
Nampt A G 12: 32,830,216 Y36C probably damaging Het
Ncapd3 T A 9: 27,063,968 probably benign Het
Nipbl T C 15: 8,359,074 D354G probably damaging Het
Nsd1 A T 13: 55,313,441 R2494W probably damaging Het
Nt5c1a A G 4: 123,214,241 N239S probably benign Het
Ogfr A G 2: 180,589,536 E19G possibly damaging Het
Olfr48 A G 2: 89,844,784 L63P probably damaging Het
Olfr747 A T 14: 50,681,200 S145T probably benign Het
Pcna A T 2: 132,251,235 probably benign Het
Pdia3 T A 2: 121,433,648 V326E probably damaging Het
Phf8 T A X: 151,631,360 L1002Q possibly damaging Het
Rusc2 G T 4: 43,415,545 D284Y probably damaging Het
Samd8 A G 14: 21,775,423 Y212C probably benign Het
Sash3 C A X: 48,158,795 Q169K probably benign Het
Scyl1 C T 19: 5,766,196 G324S probably damaging Het
Sec62 G A 3: 30,818,847 G360R unknown Het
Sis T C 3: 72,919,614 probably null Het
Slc6a1 T A 6: 114,308,617 I338N probably damaging Het
Snrnp200 A G 2: 127,216,110 D264G probably damaging Het
Tgm3 G T 2: 130,030,041 probably null Het
Tmem2 T C 19: 21,811,978 probably null Het
Tnrc6b T G 15: 80,880,457 L720R probably damaging Het
Tspyl4 A T 10: 34,298,232 Q240L probably damaging Het
Tube1 G A 10: 39,140,850 V80I probably damaging Het
Uap1l1 C T 2: 25,363,933 V304M probably damaging Het
Wtap T C 17: 12,967,733 N309S probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfyve26 T C 12: 79,268,847 D1285G probably benign Het
Zscan20 G A 4: 128,588,417 T484I probably damaging Het
Other mutations in Rhobtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01482:Rhobtb2 APN 14 69796588 missense possibly damaging 0.82
Paunchy UTSW 14 69798178 missense probably damaging 1.00
reeses UTSW 14 69799711 missense probably damaging 1.00
smoke UTSW 14 69796444 missense probably damaging 0.99
waft UTSW 14 69796735 missense probably benign 0.22
R0034:Rhobtb2 UTSW 14 69788688 missense probably benign
R0149:Rhobtb2 UTSW 14 69795908 missense probably benign 0.02
R0361:Rhobtb2 UTSW 14 69795908 missense probably benign 0.02
R0376:Rhobtb2 UTSW 14 69796735 missense probably benign 0.22
R0594:Rhobtb2 UTSW 14 69793948 missense probably benign
R1005:Rhobtb2 UTSW 14 69798277 missense probably damaging 1.00
R1072:Rhobtb2 UTSW 14 69787527 small deletion probably benign
R1929:Rhobtb2 UTSW 14 69796444 missense probably damaging 0.99
R1938:Rhobtb2 UTSW 14 69796613 missense probably benign 0.01
R2058:Rhobtb2 UTSW 14 69794039 missense possibly damaging 0.49
R2244:Rhobtb2 UTSW 14 69787527 small deletion probably benign
R2992:Rhobtb2 UTSW 14 69798323 missense probably damaging 1.00
R3953:Rhobtb2 UTSW 14 69794039 missense possibly damaging 0.49
R4655:Rhobtb2 UTSW 14 69795989 missense probably damaging 0.97
R4712:Rhobtb2 UTSW 14 69799711 missense probably damaging 1.00
R4744:Rhobtb2 UTSW 14 69794002 missense probably damaging 1.00
R4771:Rhobtb2 UTSW 14 69797050 missense probably benign 0.20
R5648:Rhobtb2 UTSW 14 69797144 missense probably damaging 1.00
R5990:Rhobtb2 UTSW 14 69796369 missense probably damaging 1.00
R6166:Rhobtb2 UTSW 14 69798178 missense probably damaging 1.00
R6186:Rhobtb2 UTSW 14 69798244 missense probably damaging 1.00
R7448:Rhobtb2 UTSW 14 69795948 nonsense probably null
Posted On2015-04-16