Incidental Mutation 'R9156:Kbtbd8'
ID 695366
Institutional Source Beutler Lab
Gene Symbol Kbtbd8
Ensembl Gene ENSMUSG00000030031
Gene Name kelch repeat and BTB (POZ) domain containing 8
Synonyms SSEC 51, SSEC51, Takrp, SSEC-51
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.269) question?
Stock # R9156 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 95117240-95129790 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 95122844 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 445 (Q445*)
Ref Sequence ENSEMBL: ENSMUSP00000032107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032107] [ENSMUST00000119582] [ENSMUST00000122938]
AlphaFold Q3UQV5
Predicted Effect probably null
Transcript: ENSMUST00000032107
AA Change: Q445*
SMART Domains Protein: ENSMUSP00000032107
Gene: ENSMUSG00000030031
AA Change: Q445*

DomainStartEndE-ValueType
BTB 49 147 7.37e-28 SMART
BACK 152 254 1.37e-26 SMART
Kelch 334 388 2.63e-3 SMART
Kelch 389 439 6.13e-4 SMART
Kelch 480 530 5.06e0 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119582
AA Change: Q368*
SMART Domains Protein: ENSMUSP00000113739
Gene: ENSMUSG00000030031
AA Change: Q368*

DomainStartEndE-ValueType
Pfam:BTB 1 70 5.1e-14 PFAM
BACK 75 177 1.37e-26 SMART
Kelch 257 311 2.63e-3 SMART
Kelch 312 362 6.13e-4 SMART
Blast:Kelch 364 402 4e-18 BLAST
Kelch 403 453 5.06e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122938
SMART Domains Protein: ENSMUSP00000145009
Gene: ENSMUSG00000030031

DomainStartEndE-ValueType
BTB 65 142 1.4e-11 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,670,998 L1150V probably damaging Het
AB124611 A G 9: 21,544,693 D194G possibly damaging Het
Adgrv1 A G 13: 81,521,183 L2418P probably benign Het
Ap3m1 A G 14: 21,040,084 S213P probably damaging Het
Apobec2 A T 17: 48,432,503 L36H Het
Arrb1 A G 7: 99,588,073 D78G Het
Astn1 A G 1: 158,510,985 Q434R probably damaging Het
Cadps C G 14: 12,705,676 D240H probably damaging Het
Cmya5 A C 13: 93,097,370 D403E unknown Het
Crxos A C 7: 15,897,511 I45L probably benign Het
Dmxl1 C G 18: 49,939,572 N2744K probably damaging Het
Dnah2 A G 11: 69,422,861 I4204T Het
Ei24 A G 9: 36,786,031 S134P probably damaging Het
Eif2ak3 G T 6: 70,883,630 V397F probably damaging Het
Eif4g2 T C 7: 111,073,762 I134V Het
Fam186a A G 15: 99,943,278 I1695T possibly damaging Het
Gcnt3 T C 9: 70,034,657 M210V probably damaging Het
Gm21671 CTTT C 5: 25,950,859 probably benign Het
Gm4788 A G 1: 139,732,347 I680T probably damaging Het
Gpatch8 A G 11: 102,479,473 S1080P probably benign Het
Gtf3c1 A G 7: 125,645,777 L1695P possibly damaging Het
Haus3 A G 5: 34,167,650 F222L probably damaging Het
Kcnc3 A G 7: 44,591,168 N95D probably damaging Het
Krt40 C T 11: 99,539,867 probably null Het
Lgi1 A G 19: 38,301,298 T271A probably benign Het
Ltbp2 G A 12: 84,791,090 P1192L probably benign Het
Map3k21 A G 8: 125,938,724 T551A possibly damaging Het
Muc5ac T C 7: 141,809,792 I2280T unknown Het
Mug1 C A 6: 121,874,431 D762E probably damaging Het
Myo1e A T 9: 70,359,323 N615I probably damaging Het
Olfr1280 T C 2: 111,315,482 M1T probably null Het
Olfr564 T C 7: 102,804,132 L218P probably damaging Het
Pld5 T C 1: 175,975,538 E387G possibly damaging Het
Pld5 A G 1: 176,074,437 V195A probably benign Het
Rad54l T C 4: 116,123,152 probably benign Het
Rnf123 A T 9: 108,063,028 probably benign Het
Rnf213 A G 11: 119,440,748 E2262G Het
Rp1 C A 1: 4,163,938 V910L unknown Het
Rpp21 A T 17: 36,257,515 C23S probably benign Het
Scn11a T C 9: 119,759,923 M1306V possibly damaging Het
Scn2b C T 9: 45,125,436 L81F possibly damaging Het
Sco2 T C 15: 89,372,160 D97G probably damaging Het
Slc25a54 T C 3: 109,094,232 V112A probably benign Het
Slc5a11 A T 7: 123,265,269 K363* probably null Het
Smg1 G T 7: 118,154,661 T2563K unknown Het
Snap47 A T 11: 59,428,464 S283T probably damaging Het
Stat1 G T 1: 52,139,229 R274L probably damaging Het
Stoml1 A G 9: 58,257,126 T166A Het
Svs2 G T 2: 164,237,589 Q133K probably benign Het
Tas2r107 T A 6: 131,659,459 H209L probably benign Het
Tmco3 T A 8: 13,310,228 V477D possibly damaging Het
Tmem131 A T 1: 36,841,686 S168T possibly damaging Het
Tmem41a T C 16: 21,937,109 N149S probably damaging Het
Ttll4 T C 1: 74,680,066 F359L probably benign Het
Ttn T A 2: 76,954,818 M784L unknown Het
Ubr1 A G 2: 120,873,122 probably null Het
Ubxn2b C T 4: 6,214,646 P227S probably damaging Het
Upb1 C T 10: 75,430,127 L263F probably benign Het
Usp15 T A 10: 123,113,648 T935S probably benign Het
Zscan4-ps3 G A 7: 11,613,237 C400Y probably damaging Het
Other mutations in Kbtbd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00594:Kbtbd8 APN 6 95126513 missense probably damaging 1.00
IGL01382:Kbtbd8 APN 6 95122230 missense probably damaging 1.00
IGL01459:Kbtbd8 APN 6 95122808 missense probably benign 0.10
IGL01656:Kbtbd8 APN 6 95118676 missense probably benign 0.02
IGL02100:Kbtbd8 APN 6 95122682 missense probably damaging 1.00
IGL02133:Kbtbd8 APN 6 95121732 splice site probably benign
IGL02532:Kbtbd8 APN 6 95126536 missense probably benign 0.17
IGL02982:Kbtbd8 APN 6 95126566 missense probably benign 0.01
IGL03074:Kbtbd8 APN 6 95122352 missense probably damaging 0.99
R0782:Kbtbd8 UTSW 6 95122232 missense probably damaging 1.00
R2075:Kbtbd8 UTSW 6 95126683 missense possibly damaging 0.47
R2329:Kbtbd8 UTSW 6 95126780 missense probably benign 0.00
R2698:Kbtbd8 UTSW 6 95126589 nonsense probably null
R3906:Kbtbd8 UTSW 6 95126584 missense probably damaging 1.00
R4276:Kbtbd8 UTSW 6 95126933 missense probably damaging 0.99
R4915:Kbtbd8 UTSW 6 95126534 missense possibly damaging 0.95
R5141:Kbtbd8 UTSW 6 95121839 missense probably damaging 1.00
R5294:Kbtbd8 UTSW 6 95121832 nonsense probably null
R5779:Kbtbd8 UTSW 6 95118534 missense probably benign
R6645:Kbtbd8 UTSW 6 95126749 nonsense probably null
R7073:Kbtbd8 UTSW 6 95121833 missense probably damaging 1.00
R7161:Kbtbd8 UTSW 6 95126696 missense probably benign 0.30
R7600:Kbtbd8 UTSW 6 95122592 missense probably damaging 1.00
R7731:Kbtbd8 UTSW 6 95118578 missense probably benign 0.00
R9617:Kbtbd8 UTSW 6 95126893 missense possibly damaging 0.88
R9747:Kbtbd8 UTSW 6 95121857 missense possibly damaging 0.62
Predicted Primers PCR Primer
(F):5'- AATAGGCTGCAAGCTAGTATACTGC -3'
(R):5'- AGAGAACTGACTATTTCGGGAAC -3'

Sequencing Primer
(F):5'- CTGCAAGCTAGTATACTGCTGTGG -3'
(R):5'- GAACTGACTATTTCGGGAACTTAGG -3'
Posted On 2022-01-20