Incidental Mutation 'R0239:Kbtbd3'
ID 59234
Institutional Source Beutler Lab
Gene Symbol Kbtbd3
Ensembl Gene ENSMUSG00000025893
Gene Name kelch repeat and BTB (POZ) domain containing 3
Synonyms Bklhd3, 2200003A07Rik
MMRRC Submission 038477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R0239 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 4309833-4331732 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4330144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 173 (V173L)
Ref Sequence ENSEMBL: ENSMUSP00000148445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049648] [ENSMUST00000212221]
AlphaFold Q8BHI4
Predicted Effect possibly damaging
Transcript: ENSMUST00000049648
AA Change: V173L

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000050183
Gene: ENSMUSG00000025893
AA Change: V173L

DomainStartEndE-ValueType
BTB 48 145 1.83e-23 SMART
BACK 150 252 1.19e-26 SMART
Blast:Kelch 292 338 7e-15 BLAST
Kelch 339 399 2.56e0 SMART
Kelch 400 450 8.67e-4 SMART
Kelch 548 597 3.3e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000212221
AA Change: V173L

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (81/83)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C A 2: 131,388,134 (GRCm39) V474F probably benign Het
Alg8 A T 7: 97,032,891 (GRCm39) probably null Het
Ash1l A G 3: 88,974,529 (GRCm39) D2618G possibly damaging Het
Atp6v1c2 C A 12: 17,344,676 (GRCm39) probably null Het
Cacna1d A G 14: 29,845,453 (GRCm39) V572A probably benign Het
Camta1 A G 4: 151,228,187 (GRCm39) W882R probably damaging Het
Cd72 A G 4: 43,453,163 (GRCm39) V91A probably benign Het
Cdh12 T C 15: 21,586,493 (GRCm39) W771R probably damaging Het
Cdx2 G T 5: 147,240,097 (GRCm39) T193K probably damaging Het
Cfap70 A C 14: 20,498,673 (GRCm39) S5A probably benign Het
Chmp7 A G 14: 69,958,446 (GRCm39) V241A probably damaging Het
Col4a1 C T 8: 11,268,780 (GRCm39) probably benign Het
D3Ertd751e A G 3: 41,708,313 (GRCm39) Y150C probably damaging Het
Depdc5 T C 5: 33,100,584 (GRCm39) S832P probably damaging Het
Dnhd1 A G 7: 105,370,738 (GRCm39) S4673G probably benign Het
Dock4 G T 12: 40,787,539 (GRCm39) S818I probably damaging Het
Dysf C T 6: 84,041,461 (GRCm39) Q156* probably null Het
Elp1 C A 4: 56,784,596 (GRCm39) V466L probably benign Het
Espnl T C 1: 91,250,009 (GRCm39) V52A probably damaging Het
Flcn T C 11: 59,691,902 (GRCm39) N249S probably benign Het
Gemin6 C A 17: 80,533,139 (GRCm39) A24D probably damaging Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Greb1l C T 18: 10,458,567 (GRCm39) probably benign Het
Hal T C 10: 93,339,344 (GRCm39) S478P possibly damaging Het
Hectd1 T A 12: 51,816,101 (GRCm39) M1324L possibly damaging Het
Hyal5 T A 6: 24,876,343 (GRCm39) L72Q probably damaging Het
Ift140 C A 17: 25,264,497 (GRCm39) C557* probably null Het
Il4ra T C 7: 125,174,371 (GRCm39) probably benign Het
Ipo9 A G 1: 135,332,074 (GRCm39) probably benign Het
Irag2 G A 6: 145,117,704 (GRCm39) probably benign Het
Kif14 A G 1: 136,455,131 (GRCm39) E1551G probably damaging Het
Klc1 A G 12: 111,751,758 (GRCm39) probably benign Het
Krt17 G A 11: 100,151,704 (GRCm39) R30* probably null Het
Lamb3 A T 1: 193,003,361 (GRCm39) D100V probably damaging Het
Map2 A G 1: 66,455,265 (GRCm39) D1385G probably damaging Het
Mettl25 C T 10: 105,662,386 (GRCm39) V195I probably damaging Het
Micu2 G A 14: 58,154,835 (GRCm39) probably benign Het
Mrrf T C 2: 36,067,293 (GRCm39) probably benign Het
Myh8 A G 11: 67,192,518 (GRCm39) T1466A probably benign Het
Myo3b T A 2: 69,935,769 (GRCm39) C61S probably benign Het
Nacc2 T G 2: 25,952,273 (GRCm39) N361T probably damaging Het
Nf1 A T 11: 79,309,400 (GRCm39) K438M possibly damaging Het
Nipal4 A G 11: 46,041,268 (GRCm39) V309A possibly damaging Het
Nomo1 T C 7: 45,729,018 (GRCm39) probably null Het
Nubp2 T C 17: 25,103,445 (GRCm39) E144G probably damaging Het
Nwd2 A T 5: 63,957,467 (GRCm39) I266F probably benign Het
Or12e7 T C 2: 87,288,381 (GRCm39) F291L probably benign Het
Or2ag1b A G 7: 106,288,462 (GRCm39) Y159H probably benign Het
Or52s1 G A 7: 102,861,933 (GRCm39) V289M possibly damaging Het
Orc1 T C 4: 108,452,843 (GRCm39) probably null Het
Otogl T A 10: 107,642,557 (GRCm39) N1291I probably damaging Het
Pah C T 10: 87,403,143 (GRCm39) P173S possibly damaging Het
Pga5 A G 19: 10,646,817 (GRCm39) Y305H probably damaging Het
Plekha4 A G 7: 45,181,782 (GRCm39) H62R probably damaging Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Ppfia4 T C 1: 134,256,927 (GRCm39) E98G possibly damaging Het
Ptk2 A T 15: 73,215,132 (GRCm39) probably null Het
Pzp C T 6: 128,466,119 (GRCm39) probably benign Het
Raet1c C A 10: 22,056,761 (GRCm39) H112Q possibly damaging Het
Scai T A 2: 38,965,054 (GRCm39) I597F probably benign Het
Scgb1b2 T A 7: 30,991,155 (GRCm39) probably benign Het
Sec31b G A 19: 44,513,908 (GRCm39) probably benign Het
Sirpd A G 3: 15,361,661 (GRCm39) L163P probably damaging Het
Slc35c2 C T 2: 165,122,757 (GRCm39) G176S probably damaging Het
Slc35f4 A T 14: 49,541,713 (GRCm39) I347N possibly damaging Het
Slc49a3 G T 5: 108,591,882 (GRCm39) probably benign Het
Slc52a3 T C 2: 151,850,076 (GRCm39) *461Q probably null Het
Slc6a1 G A 6: 114,279,761 (GRCm39) V142I probably benign Het
Tbc1d31 C A 15: 57,804,149 (GRCm39) T388N probably benign Het
Tmem131 T C 1: 36,867,131 (GRCm39) probably benign Het
Tmem63c T C 12: 87,122,413 (GRCm39) W404R probably damaging Het
Tmem79 A G 3: 88,240,628 (GRCm39) S107P probably benign Het
Trip11 C T 12: 101,850,987 (GRCm39) E741K probably damaging Het
Trpm5 G T 7: 142,636,695 (GRCm39) T414N probably damaging Het
Tsnaxip1 T A 8: 106,571,120 (GRCm39) I660N possibly damaging Het
Ube2q2 T C 9: 55,070,291 (GRCm39) S78P probably damaging Het
Vac14 A T 8: 111,362,007 (GRCm39) probably null Het
Vps51 G T 19: 6,121,467 (GRCm39) S185* probably null Het
Zfp11 C T 5: 129,735,302 (GRCm39) G53E possibly damaging Het
Zfp532 A T 18: 65,816,056 (GRCm39) I810F possibly damaging Het
Zfp599 C T 9: 22,161,055 (GRCm39) C370Y probably damaging Het
Other mutations in Kbtbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00642:Kbtbd3 APN 9 4,330,169 (GRCm39) missense probably benign
IGL00674:Kbtbd3 APN 9 4,329,949 (GRCm39) missense probably benign 0.05
IGL00848:Kbtbd3 APN 9 4,331,184 (GRCm39) missense probably damaging 1.00
IGL01949:Kbtbd3 APN 9 4,331,066 (GRCm39) missense possibly damaging 0.95
IGL02619:Kbtbd3 APN 9 4,331,252 (GRCm39) missense probably damaging 1.00
IGL02830:Kbtbd3 APN 9 4,330,096 (GRCm39) missense possibly damaging 0.95
IGL02894:Kbtbd3 APN 9 4,331,444 (GRCm39) missense probably benign 0.05
R0239:Kbtbd3 UTSW 9 4,330,144 (GRCm39) missense possibly damaging 0.62
R0348:Kbtbd3 UTSW 9 4,330,519 (GRCm39) missense possibly damaging 0.94
R0372:Kbtbd3 UTSW 9 4,316,950 (GRCm39) missense possibly damaging 0.75
R0380:Kbtbd3 UTSW 9 4,330,545 (GRCm39) nonsense probably null
R0644:Kbtbd3 UTSW 9 4,329,868 (GRCm39) missense probably damaging 1.00
R1496:Kbtbd3 UTSW 9 4,330,276 (GRCm39) missense probably benign
R1651:Kbtbd3 UTSW 9 4,330,589 (GRCm39) missense possibly damaging 0.62
R1707:Kbtbd3 UTSW 9 4,316,985 (GRCm39) missense probably benign 0.01
R1998:Kbtbd3 UTSW 9 4,330,760 (GRCm39) missense probably benign 0.01
R2012:Kbtbd3 UTSW 9 4,330,919 (GRCm39) missense probably benign
R2027:Kbtbd3 UTSW 9 4,317,075 (GRCm39) splice site probably benign
R3717:Kbtbd3 UTSW 9 4,330,598 (GRCm39) missense probably benign
R4463:Kbtbd3 UTSW 9 4,331,257 (GRCm39) missense probably damaging 0.99
R4482:Kbtbd3 UTSW 9 4,331,051 (GRCm39) missense probably damaging 1.00
R4795:Kbtbd3 UTSW 9 4,331,073 (GRCm39) nonsense probably null
R5195:Kbtbd3 UTSW 9 4,316,905 (GRCm39) missense possibly damaging 0.74
R5645:Kbtbd3 UTSW 9 4,331,426 (GRCm39) missense possibly damaging 0.92
R5753:Kbtbd3 UTSW 9 4,331,404 (GRCm39) missense possibly damaging 0.74
R5898:Kbtbd3 UTSW 9 4,330,476 (GRCm39) missense probably damaging 0.97
R6463:Kbtbd3 UTSW 9 4,316,921 (GRCm39) missense probably benign
R6681:Kbtbd3 UTSW 9 4,330,687 (GRCm39) missense probably benign 0.00
R7284:Kbtbd3 UTSW 9 4,330,690 (GRCm39) nonsense probably null
R7390:Kbtbd3 UTSW 9 4,330,424 (GRCm39) missense probably benign 0.27
R7735:Kbtbd3 UTSW 9 4,330,846 (GRCm39) missense possibly damaging 0.89
R7793:Kbtbd3 UTSW 9 4,331,221 (GRCm39) missense probably damaging 1.00
R7950:Kbtbd3 UTSW 9 4,316,878 (GRCm39) nonsense probably null
R8005:Kbtbd3 UTSW 9 4,330,655 (GRCm39) missense probably damaging 1.00
R8050:Kbtbd3 UTSW 9 4,330,408 (GRCm39) missense probably benign 0.43
R8213:Kbtbd3 UTSW 9 4,331,269 (GRCm39) missense probably damaging 0.99
R9163:Kbtbd3 UTSW 9 4,330,584 (GRCm39) missense probably benign 0.30
X0024:Kbtbd3 UTSW 9 4,331,437 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTTGTCCTCCAAAGCTGTAAAGGC -3'
(R):5'- CAGTTGTGGATGGTCGAGCATCAG -3'

Sequencing Primer
(F):5'- CTCCAAAGCTGTAAAGGCATTTC -3'
(R):5'- GAGCAAATAGTCTTGAAGTGTGTCC -3'
Posted On 2013-07-11