Incidental Mutation 'R1712:Kbtbd12'
ID 190666
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 039745-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R1712 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 88521931-88604636 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88595676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 51 (S51R)
Ref Sequence ENSEMBL: ENSMUSP00000139069 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000120933] [ENSMUST00000184664] [ENSMUST00000184878]
AlphaFold Q9D618
Predicted Effect noncoding transcript
Transcript: ENSMUST00000038804
SMART Domains Protein: ENSMUSP00000047155
Gene: ENSMUSG00000033182

DomainStartEndE-ValueType
BTB 29 126 1.39e-23 SMART
BACK 131 233 6.69e-30 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000120933
AA Change: S51R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112581
Gene: ENSMUSG00000033182
AA Change: S51R

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 noncoding transcript
Transcript: ENSMUST00000184591
Predicted Effect probably damaging
Transcript: ENSMUST00000184664
AA Change: S51R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139069
Gene: ENSMUSG00000033182
AA Change: S51R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203223
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,678,448 (GRCm39) E12D probably damaging Het
Ahnak2 C A 12: 112,748,998 (GRCm39) R283L probably benign Het
BC005624 T C 2: 30,864,020 (GRCm39) E191G probably damaging Het
C1galt1 A G 6: 7,871,217 (GRCm39) N351S probably benign Het
Ccdc162 T C 10: 41,415,427 (GRCm39) R2179G probably benign Het
Ccdc88c G A 12: 100,905,284 (GRCm39) T1108M probably benign Het
Cd47 T C 16: 49,714,543 (GRCm39) L184P probably damaging Het
Cdc40 T C 10: 40,717,372 (GRCm39) K440E probably damaging Het
Cenpe G A 3: 134,971,694 (GRCm39) V2262I probably damaging Het
Cep290 A G 10: 100,390,361 (GRCm39) K2035E probably benign Het
Cks1brt G T 8: 85,898,172 (GRCm39) L8F probably benign Het
Col17a1 T C 19: 47,637,442 (GRCm39) probably benign Het
Coro6 A T 11: 77,360,293 (GRCm39) N421I probably benign Het
Cps1 T C 1: 67,269,440 (GRCm39) S1480P probably damaging Het
Csrnp3 G T 2: 65,832,826 (GRCm39) A110S probably damaging Het
Cyp2d10 G T 15: 82,287,240 (GRCm39) T461K probably damaging Het
Dmxl2 A G 9: 54,308,769 (GRCm39) V1994A probably benign Het
Dnah11 T A 12: 118,160,379 (GRCm39) N117I probably benign Het
Dnajc3 A G 14: 119,195,307 (GRCm39) Y74C probably damaging Het
Fam13c T A 10: 70,390,403 (GRCm39) F555I possibly damaging Het
Fbn1 T A 2: 125,188,354 (GRCm39) D1495V probably damaging Het
Fbrsl1 T C 5: 110,595,862 (GRCm39) T58A probably benign Het
Gjd3 A G 11: 102,691,706 (GRCm39) I99T possibly damaging Het
Glce T C 9: 61,977,857 (GRCm39) N9S probably damaging Het
Gosr1 T C 11: 76,641,704 (GRCm39) T125A possibly damaging Het
Ifi27l2a T A 12: 103,406,202 (GRCm39) probably null Het
Jph1 C T 1: 17,167,456 (GRCm39) D125N possibly damaging Het
Klra9 A T 6: 130,166,659 (GRCm39) probably null Het
Kmo A T 1: 175,484,289 (GRCm39) M340L probably benign Het
Lama1 T C 17: 68,024,181 (GRCm39) I93T possibly damaging Het
Limk2 A T 11: 3,308,104 (GRCm39) probably null Het
Mgat5 C A 1: 127,248,375 (GRCm39) N92K probably benign Het
Mib2 T A 4: 155,739,256 (GRCm39) I908F probably damaging Het
Mical1 T G 10: 41,356,359 (GRCm39) L304R probably damaging Het
Mtbp G T 15: 55,434,690 (GRCm39) probably null Het
Myo3a T C 2: 22,455,004 (GRCm39) Y70H probably damaging Het
Neb T C 2: 52,133,401 (GRCm39) Y3379C probably damaging Het
Neurod2 G T 11: 98,218,029 (GRCm39) N378K probably damaging Het
Oog4 G A 4: 143,166,484 (GRCm39) L107F probably damaging Het
Or2g25 A G 17: 37,970,799 (GRCm39) S142P probably benign Het
Or4k40 T A 2: 111,251,003 (GRCm39) M98L probably benign Het
Or6x1 A G 9: 40,099,161 (GRCm39) Y250C probably damaging Het
Or8k20 T A 2: 86,106,337 (GRCm39) T165S probably damaging Het
Pfdn6 T C 17: 34,158,528 (GRCm39) Y82C probably damaging Het
Pla2g4d C A 2: 120,107,971 (GRCm39) A313S possibly damaging Het
Ptcd3 C A 6: 71,885,637 (GRCm39) E30* probably null Het
Rai1 A G 11: 60,078,428 (GRCm39) T831A probably benign Het
Rims1 G A 1: 22,367,172 (GRCm39) T1176M probably damaging Het
Rin1 A C 19: 5,105,171 (GRCm39) I744L probably benign Het
Rora T A 9: 69,282,771 (GRCm39) S430T probably benign Het
Rsph10b T A 5: 143,873,967 (GRCm39) S23T probably damaging Het
Ryr1 T C 7: 28,746,928 (GRCm39) N3773S probably benign Het
Scn4a A G 11: 106,230,180 (GRCm39) Y543H probably damaging Het
Scn4a C A 11: 106,236,373 (GRCm39) G296C probably benign Het
Scn7a T C 2: 66,535,447 (GRCm39) T435A probably benign Het
Shank2 G T 7: 143,964,890 (GRCm39) D833Y probably damaging Het
Slc9a2 T C 1: 40,802,770 (GRCm39) S607P possibly damaging Het
Slx4 G A 16: 3,809,458 (GRCm39) R346W probably damaging Het
Spata20 A T 11: 94,371,340 (GRCm39) C675S probably benign Het
Suclg2 A T 6: 95,563,997 (GRCm39) I196N probably damaging Het
Sv2b G A 7: 74,798,807 (GRCm39) H272Y possibly damaging Het
Svep1 T C 4: 58,070,629 (GRCm39) I2386V probably benign Het
Taf13 A T 3: 108,488,445 (GRCm39) E109D possibly damaging Het
Tanc2 A G 11: 105,790,606 (GRCm39) T976A probably benign Het
Tax1bp1 A G 6: 52,706,311 (GRCm39) Y104C probably damaging Het
Tfeb T C 17: 48,099,911 (GRCm39) probably null Het
Tlr9 T C 9: 106,101,248 (GRCm39) Y180H probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttc12 T A 9: 49,356,499 (GRCm39) T510S probably benign Het
Ubqln1 T C 13: 58,339,895 (GRCm39) E280G probably damaging Het
Urm1 T C 2: 29,731,437 (GRCm39) W44R probably damaging Het
Usp32 A T 11: 84,933,406 (GRCm39) I34N probably benign Het
Vars1 T C 17: 35,233,728 (GRCm39) L1018P probably damaging Het
Vcan A T 13: 89,869,894 (GRCm39) V206D probably damaging Het
Vim T C 2: 13,583,270 (GRCm39) V224A probably damaging Het
Vmn2r106 G T 17: 20,498,997 (GRCm39) H305N probably benign Het
Vmn2r78 A G 7: 86,604,132 (GRCm39) N770S probably damaging Het
Wdr33 T A 18: 32,029,684 (GRCm39) L961Q unknown Het
Xylt2 A G 11: 94,559,575 (GRCm39) S356P possibly damaging Het
Zbtb14 A G 17: 69,694,575 (GRCm39) N91S probably damaging Het
Zc3h6 T C 2: 128,858,654 (GRCm39) L895S probably damaging Het
Zc3h7b C T 15: 81,661,289 (GRCm39) P376L probably benign Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign 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
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
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'- ATGGCTACGGTCTGAACGTTGG -3'
(R):5'- TCTTACCCGCAGGAATGCTTCG -3'

Sequencing Primer
(F):5'- GCGTTATTGATCTCCAGGACAG -3'
(R):5'- CAGGAATGCTTCGTGGCATC -3'
Posted On 2014-05-14