Incidental Mutation 'IGL01123:Kbtbd7'
ID52706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kbtbd7
Ensembl Gene ENSMUSG00000043881
Gene Namekelch repeat and BTB (POZ) domain containing 7
Synonyms1110008P08Rik, LOC211255
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL01123
Quality Score
Status
Chromosome14
Chromosomal Location79426511-79431036 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79428612 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 628 (V628A)
Ref Sequence ENSEMBL: ENSMUSP00000060768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061222]
Predicted Effect probably damaging
Transcript: ENSMUST00000061222
AA Change: V628A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060768
Gene: ENSMUSG00000043881
AA Change: V628A

DomainStartEndE-ValueType
Blast:BTB 11 44 2e-11 BLAST
BTB 63 168 1.05e-23 SMART
BACK 173 279 1.41e-19 SMART
low complexity region 317 340 N/A INTRINSIC
Pfam:Kelch_1 434 481 1.7e-9 PFAM
low complexity region 657 676 N/A INTRINSIC
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 transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 D167E probably damaging Het
Aadat A T 8: 60,526,614 E170V probably benign Het
Acsf2 T C 11: 94,570,450 E300G probably benign Het
Agbl3 C T 6: 34,846,976 Q859* probably null Het
Arhgap11a T C 2: 113,834,773 probably benign Het
Arhgef40 C A 14: 51,994,346 Q730K probably damaging Het
Armc3 C T 2: 19,201,805 P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 T233S probably benign Het
Bnc1 G A 7: 81,973,707 Q591* probably null Het
Bsn A T 9: 108,115,986 F856I probably damaging Het
CK137956 T A 4: 127,935,850 T558S probably benign Het
Coq8b G A 7: 27,240,084 V180I probably damaging Het
Csmd1 A T 8: 17,534,928 L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 S769P possibly damaging Het
Diras1 T A 10: 81,022,415 M1L probably damaging Het
Fam161b A G 12: 84,357,664 W81R probably benign Het
Fat4 A T 3: 38,957,269 I2173L probably benign Het
Fbn2 T C 18: 58,104,081 T617A possibly damaging Het
Gabrq G A X: 72,836,833 D311N probably benign Het
Isl2 G T 9: 55,545,462 G335C probably damaging Het
Kmt2d T C 15: 98,837,148 M5378V unknown Het
Lrrc23 G T 6: 124,778,819 D75E probably benign Het
Mab21l3 G A 3: 101,835,130 T38M probably benign Het
Matn1 T C 4: 130,950,011 I177T possibly damaging Het
Mtor T C 4: 148,453,037 S60P probably benign Het
Naip6 T C 13: 100,304,438 E278G probably benign Het
Nsun6 T C 2: 15,048,978 I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 S492T probably benign Het
Pakap C T 4: 57,757,627 Q188* probably null Het
Pom121 A T 5: 135,391,706 V287D unknown Het
Ptprq A T 10: 107,686,218 F624Y probably damaging Het
Ptprr A G 10: 116,188,317 T178A probably benign Het
Pygm A G 19: 6,391,394 N473S probably benign Het
Ros1 A T 10: 52,120,809 Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 S6P possibly damaging Het
Sgca T A 11: 94,972,287 Q80L probably damaging Het
Skint6 A G 4: 112,804,682 L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 N600K probably benign Het
Spata20 T C 11: 94,483,395 T350A probably benign Het
Syne1 G T 10: 5,344,921 Y1227* probably null Het
Unc13c T C 9: 73,933,197 Y124C probably benign Het
Usp40 G A 1: 87,986,123 T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 W116R probably benign Het
Vps4a T C 8: 107,039,219 probably benign Het
Zfyve16 A G 13: 92,492,522 V1469A probably damaging Het
Other mutations in Kbtbd7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Kbtbd7 APN 14 79428046 missense possibly damaging 0.82
R0973:Kbtbd7 UTSW 14 79427430 missense possibly damaging 0.48
R0973:Kbtbd7 UTSW 14 79427430 missense possibly damaging 0.48
R0974:Kbtbd7 UTSW 14 79427430 missense possibly damaging 0.48
R1236:Kbtbd7 UTSW 14 79427832 missense probably benign 0.05
R2909:Kbtbd7 UTSW 14 79428482 missense probably benign 0.16
R4731:Kbtbd7 UTSW 14 79428800 makesense probably null
R4732:Kbtbd7 UTSW 14 79428800 makesense probably null
R4733:Kbtbd7 UTSW 14 79428800 makesense probably null
R4984:Kbtbd7 UTSW 14 79427162 missense probably damaging 1.00
R5712:Kbtbd7 UTSW 14 79428765 missense possibly damaging 0.86
R6699:Kbtbd7 UTSW 14 79428192 missense probably benign 0.31
R7122:Kbtbd7 UTSW 14 79428317 missense probably damaging 0.98
R7176:Kbtbd7 UTSW 14 79427754 missense possibly damaging 0.77
R7457:Kbtbd7 UTSW 14 79427924 frame shift probably null
R7875:Kbtbd7 UTSW 14 79427366 missense probably benign 0.04
R7958:Kbtbd7 UTSW 14 79427366 missense probably benign 0.04
R8041:Kbtbd7 UTSW 14 79428704 missense not run
Posted On2013-06-21