Incidental Mutation 'R7046:Kbtbd12'
ID 547310
Institutional Source Beutler Lab
Gene Symbol Kbtbd12
Ensembl Gene ENSMUSG00000033182
Gene Name kelch repeat and BTB (POZ) domain containing 12
Synonyms 4933428M03Rik, 4833415F11Rik, Klhdc6
MMRRC Submission 045144-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R7046 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 88521931-88604636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88595497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 111 (M111T)
Ref Sequence ENSEMBL: ENSMUSP00000112581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184664] [ENSMUST00000184878]
AlphaFold Q9D618
Predicted Effect possibly damaging
Transcript: ENSMUST00000120933
AA Change: M111T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: M111T

DomainStartEndE-ValueType
BTB 29 126 1.39e-23 SMART
BACK 131 233 6.69e-30 SMART
Kelch 384 434 9.15e-3 SMART
Kelch 435 490 4.3e-8 SMART
Kelch 491 550 1.01e-1 SMART
Kelch 551 601 1.92e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184664
SMART Domains Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182

DomainStartEndE-ValueType
Pfam:BTB 19 77 6.2e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184878
SMART Domains Protein: ENSMUSP00000139333
Gene: ENSMUSG00000033182

DomainStartEndE-ValueType
Kelch 30 67 9.94e-1 SMART
Kelch 68 127 1.01e-1 SMART
Kelch 128 178 1.92e0 SMART
Meta Mutation Damage Score 0.2257 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 T C 7: 45,772,364 (GRCm39) Y805C probably damaging Het
Aoc1l3 T A 6: 48,964,512 (GRCm39) D173E probably benign Het
Cabp7 T A 11: 4,688,886 (GRCm39) I195F probably damaging Het
Camsap1 T C 2: 25,835,201 (GRCm39) N317S probably damaging Het
Ccdc127 T G 13: 74,500,994 (GRCm39) L4V probably damaging Het
Ccdc7a T C 8: 129,774,100 (GRCm39) E145G probably damaging Het
Cdh10 T A 15: 19,013,287 (GRCm39) V629D probably damaging Het
Cdh23 A C 10: 60,214,530 (GRCm39) L1497R probably damaging Het
Chsy3 A G 18: 59,542,875 (GRCm39) K671R probably benign Het
Clca4b T C 3: 144,621,367 (GRCm39) Y569C probably damaging Het
Cnga1 T C 5: 72,786,696 (GRCm39) probably benign Het
Cyp51 T A 5: 4,150,188 (GRCm39) E178D probably damaging Het
Defa30 T A 8: 21,625,471 (GRCm39) N78K probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Dnah14 G T 1: 181,450,568 (GRCm39) C727F probably benign Het
Egf A T 3: 129,548,607 (GRCm39) W3R unknown Het
Egfem1 G A 3: 29,136,364 (GRCm39) probably null Het
Epb41l1 G T 2: 156,368,812 (GRCm39) V682L possibly damaging Het
Etv1 A G 12: 38,834,369 (GRCm39) probably null Het
Faap100 A G 11: 120,268,200 (GRCm39) F191S possibly damaging Het
Fmo1 T A 1: 162,667,263 (GRCm39) D184V possibly damaging Het
Ghrl A G 6: 113,696,344 (GRCm39) L16P probably damaging Het
Gria4 T A 9: 4,420,278 (GRCm39) L861F probably damaging Het
Gsr T A 8: 34,185,090 (GRCm39) M428K probably damaging Het
Hspa5 C T 2: 34,663,204 (GRCm39) P127L probably damaging Het
Krtap21-1 G T 16: 89,200,623 (GRCm39) Y6* probably null Het
Lin9 A G 1: 180,494,935 (GRCm39) D219G probably damaging Het
Lrrc38 A G 4: 143,076,739 (GRCm39) M1V probably null Het
Macc1 T G 12: 119,410,773 (GRCm39) F514V probably benign Het
Madcam1 C T 10: 79,504,139 (GRCm39) R242C probably benign Het
Mfhas1 T C 8: 36,131,944 (GRCm39) S1037P probably benign Het
Micall2 C T 5: 139,694,699 (GRCm39) probably benign Het
Mtr C A 13: 12,205,095 (GRCm39) A1122S possibly damaging Het
Muc6 T A 7: 141,226,456 (GRCm39) probably benign Het
Myh15 T A 16: 48,929,662 (GRCm39) C529* probably null Het
Napsa T C 7: 44,234,509 (GRCm39) V247A probably damaging Het
Nr2c2 A G 6: 92,135,338 (GRCm39) T309A probably damaging Het
Or1e26 A T 11: 73,480,558 (GRCm39) I2K probably benign Het
Or1q1 T A 2: 36,887,173 (GRCm39) V117E probably benign Het
Or2n1b A T 17: 38,459,691 (GRCm39) M71L probably benign Het
Osgepl1 A T 1: 53,360,710 (GRCm39) I384F possibly damaging Het
Otud4 C T 8: 80,377,671 (GRCm39) L111F possibly damaging Het
Pds5b A G 5: 150,673,385 (GRCm39) Y481C probably damaging Het
Pdzrn4 T A 15: 92,668,303 (GRCm39) Y818* probably null Het
Pin1rt1 T C 2: 104,544,767 (GRCm39) S122G probably benign Het
Pkdcc A T 17: 83,531,687 (GRCm39) Y487F probably damaging Het
Plxna4 C T 6: 32,493,440 (GRCm39) C392Y probably damaging Het
Psd4 T G 2: 24,284,985 (GRCm39) M283R probably benign Het
Ralgds G T 2: 28,430,741 (GRCm39) G68W probably damaging Het
Rmdn2 T A 17: 79,928,808 (GRCm39) I20N probably damaging Het
Sestd1 A G 2: 77,022,910 (GRCm39) V486A probably benign Het
Skic8 T A 9: 54,626,539 (GRCm39) D275V probably damaging Het
Spmap2 G T 10: 79,422,796 (GRCm39) D35E probably benign Het
Tango6 A G 8: 107,533,748 (GRCm39) H958R possibly damaging Het
Taok3 C T 5: 117,411,771 (GRCm39) R857C probably damaging Het
Tasor A T 14: 27,194,392 (GRCm39) L1197F probably damaging Het
Trio T C 15: 27,832,137 (GRCm39) E1245G probably damaging Het
Usp19 C T 9: 108,374,334 (GRCm39) H763Y possibly damaging Het
Vmn1r185 A G 7: 26,310,651 (GRCm39) S285P probably damaging Het
Vmn1r45 T G 6: 89,910,538 (GRCm39) Y144S probably benign Het
Vwa3b G A 1: 37,212,959 (GRCm39) E152K probably benign Het
Xrcc5 G A 1: 72,433,875 (GRCm39) M731I probably benign Het
Zfp619 G A 7: 39,186,787 (GRCm39) S939N possibly damaging Het
Zfp874a C A 13: 67,590,418 (GRCm39) C422F probably damaging Het
Zfp948 A G 17: 21,808,719 (GRCm39) D637G possibly damaging Het
Other mutations in Kbtbd12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01600:Kbtbd12 APN 6 88,595,540 (GRCm39) missense probably benign 0.08
IGL01845:Kbtbd12 APN 6 88,590,922 (GRCm39) missense probably benign 0.16
IGL02447:Kbtbd12 APN 6 88,595,676 (GRCm39) missense probably damaging 1.00
IGL02623:Kbtbd12 APN 6 88,595,371 (GRCm39) missense probably damaging 1.00
IGL02851:Kbtbd12 APN 6 88,595,311 (GRCm39) missense probably benign 0.18
R0334:Kbtbd12 UTSW 6 88,594,888 (GRCm39) missense probably damaging 0.99
R1689:Kbtbd12 UTSW 6 88,595,567 (GRCm39) missense probably damaging 1.00
R1712:Kbtbd12 UTSW 6 88,595,676 (GRCm39) missense probably damaging 1.00
R1777:Kbtbd12 UTSW 6 88,595,042 (GRCm39) missense probably benign 0.00
R2037:Kbtbd12 UTSW 6 88,594,779 (GRCm39) missense probably benign 0.00
R3967:Kbtbd12 UTSW 6 88,595,488 (GRCm39) missense probably benign 0.01
R4660:Kbtbd12 UTSW 6 88,594,772 (GRCm39) missense probably benign 0.44
R4785:Kbtbd12 UTSW 6 88,595,003 (GRCm39) missense probably damaging 1.00
R5224:Kbtbd12 UTSW 6 88,594,681 (GRCm39) intron probably benign
R5568:Kbtbd12 UTSW 6 88,595,609 (GRCm39) missense probably damaging 1.00
R6051:Kbtbd12 UTSW 6 88,594,930 (GRCm39) missense possibly damaging 0.69
R6412:Kbtbd12 UTSW 6 88,595,638 (GRCm39) missense probably damaging 1.00
R6525:Kbtbd12 UTSW 6 88,591,062 (GRCm39) missense probably benign 0.29
R6776:Kbtbd12 UTSW 6 88,595,248 (GRCm39) missense probably damaging 0.97
R7157:Kbtbd12 UTSW 6 88,595,650 (GRCm39) missense probably damaging 1.00
R7224:Kbtbd12 UTSW 6 88,590,965 (GRCm39) nonsense probably null
R7303:Kbtbd12 UTSW 6 88,591,094 (GRCm39) missense unknown
R7650:Kbtbd12 UTSW 6 88,595,530 (GRCm39) missense probably damaging 1.00
R7763:Kbtbd12 UTSW 6 88,595,179 (GRCm39) missense probably benign 0.31
R7982:Kbtbd12 UTSW 6 88,595,616 (GRCm39) missense possibly damaging 0.61
R8103:Kbtbd12 UTSW 6 88,595,663 (GRCm39) missense probably damaging 1.00
R8195:Kbtbd12 UTSW 6 88,594,913 (GRCm39) missense possibly damaging 0.64
R8305:Kbtbd12 UTSW 6 88,595,132 (GRCm39) missense possibly damaging 0.50
R9072:Kbtbd12 UTSW 6 88,595,422 (GRCm39) missense probably damaging 1.00
R9073:Kbtbd12 UTSW 6 88,595,422 (GRCm39) missense probably damaging 1.00
R9438:Kbtbd12 UTSW 6 88,591,040 (GRCm39) nonsense probably null
R9773:Kbtbd12 UTSW 6 88,524,744 (GRCm39) missense probably damaging 1.00
Z1177:Kbtbd12 UTSW 6 88,595,650 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTCGATGTCAAGTATTTCTCC -3'
(R):5'- AATTCCCTTGCCACAGACTG -3'

Sequencing Primer
(F):5'- GTCAAGTATTTCTCCATGAAGGC -3'
(R):5'- TTGCCACAGACTGGTGCTC -3'
Posted On 2019-05-13