Incidental Mutation 'R6776:Kbtbd12'
ID 531288
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 044892-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6776 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 88521931-88604636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88595248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 194 (D194G)
Ref Sequence ENSEMBL: ENSMUSP00000112581 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184664] [ENSMUST00000184878]
AlphaFold Q9D618
Predicted Effect probably damaging
Transcript: ENSMUST00000120933
AA Change: D194G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: D194G

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 A G 8: 10,038,075 (GRCm39) H224R probably benign Het
Anapc10 T C 8: 80,446,374 (GRCm39) F68S probably damaging Het
Arid2 A G 15: 96,268,830 (GRCm39) N981S probably benign Het
Bmerb1 T A 16: 13,804,670 (GRCm39) S6T possibly damaging Het
Cfap73 A G 5: 120,772,276 (GRCm39) F9L probably damaging Het
Chd3 A C 11: 69,245,296 (GRCm39) L1141V probably damaging Het
Daam1 C T 12: 72,036,582 (GRCm39) L1052F possibly damaging Het
Dmxl1 C T 18: 50,027,041 (GRCm39) R2050C probably damaging Het
Dpp10 G A 1: 123,295,385 (GRCm39) Q552* probably null Het
Dysf A G 6: 84,041,876 (GRCm39) D160G possibly damaging Het
Ecrg4 C A 1: 43,781,551 (GRCm39) N144K probably damaging Het
Firrm T C 1: 163,804,318 (GRCm39) I338M probably damaging Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Ftcd T C 10: 76,425,073 (GRCm39) I518T probably benign Het
Gapdh A G 6: 125,139,236 (GRCm39) S248P probably damaging Het
Gm5592 C G 7: 40,939,153 (GRCm39) P812A probably damaging Het
Grik2 G A 10: 49,232,085 (GRCm39) L482F probably damaging Het
Gzmg C T 14: 56,394,288 (GRCm39) G202D probably damaging Het
Hectd4 G A 5: 121,491,574 (GRCm39) A3671T possibly damaging Het
Hexa G T 9: 59,465,355 (GRCm39) W203C probably damaging Het
Igdcc4 A T 9: 65,042,700 (GRCm39) T1217S probably benign Het
Ipo7 A G 7: 109,646,272 (GRCm39) D557G probably damaging Het
Irx3 T A 8: 92,526,463 (GRCm39) T414S probably benign Het
Jakmip1 G A 5: 37,344,498 (GRCm39) E1313K probably damaging Het
Klk6 T C 7: 43,476,298 (GRCm39) L46P probably damaging Het
Krt86 T C 15: 101,374,817 (GRCm39) I329T probably benign Het
Mroh5 A G 15: 73,661,817 (GRCm39) probably null Het
Mtrf1 T C 14: 79,650,521 (GRCm39) V323A probably damaging Het
Oas3 A T 5: 120,896,939 (GRCm39) I894N probably damaging Het
Oplah C T 15: 76,185,053 (GRCm39) V887I possibly damaging Het
Pag1 T C 3: 9,764,848 (GRCm39) T102A probably benign Het
Pcnx1 C T 12: 82,009,496 (GRCm39) A1181V possibly damaging Het
Pkdrej G T 15: 85,701,510 (GRCm39) Y1475* probably null Het
Pla2g5 A G 4: 138,527,964 (GRCm39) S101P probably benign Het
Plekha4 C A 7: 45,184,241 (GRCm39) A76E probably damaging Het
Plk2 T C 13: 110,536,325 (GRCm39) I592T probably benign Het
Ppp2r3c T A 12: 55,345,252 (GRCm39) R79* probably null Het
Ppp2r3d A T 9: 101,090,061 (GRCm39) H87Q probably benign Het
Prpf40b C T 15: 99,212,784 (GRCm39) R627W probably damaging Het
Prrt4 G T 6: 29,176,551 (GRCm39) T258K possibly damaging Het
Rhpn2 T A 7: 35,083,194 (GRCm39) probably null Het
Slc11a1 T A 1: 74,423,244 (GRCm39) I365N probably damaging Het
Slc7a7 C T 14: 54,612,108 (GRCm39) G265D possibly damaging Het
Thsd7a T A 6: 12,555,636 (GRCm39) T83S possibly damaging Het
Tln2 A G 9: 67,170,187 (GRCm39) S1989P probably damaging Het
Tnfaip3 T G 10: 18,881,324 (GRCm39) T321P probably benign Het
Tnrc6b C T 15: 80,808,320 (GRCm39) P1623L possibly damaging Het
Trpa1 T C 1: 14,982,601 (GRCm39) N85S probably benign Het
Trrap C T 5: 144,788,066 (GRCm39) R3544* probably null Het
Ttf2 A T 3: 100,859,869 (GRCm39) V695E probably benign Het
Ttll4 A G 1: 74,720,512 (GRCm39) E509G probably damaging Het
Vdr T C 15: 97,767,709 (GRCm39) I94V probably damaging Het
Wdfy3 G T 5: 102,031,911 (GRCm39) Q2304K possibly damaging Het
Zfp663 T C 2: 165,200,935 (GRCm39) Y33C probably 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
R7046:Kbtbd12 UTSW 6 88,595,497 (GRCm39) missense possibly damaging 0.89
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'- CATGCCATAGCGAAGGTTGG -3'
(R):5'- CTTTGCAAAACAAATCGGAGCAG -3'

Sequencing Primer
(F):5'- CTTGATGGCTTTGAACGCATTC -3'
(R):5'- GCAGAAGATTTATCGGATCAGTC -3'
Posted On 2018-08-29