Incidental Mutation 'R6360:Kbtbd2'
ID513063
Institutional Source Beutler Lab
Gene Symbol Kbtbd2
Ensembl Gene ENSMUSG00000059486
Gene Namekelch repeat and BTB (POZ) domain containing 2
SynonymsBklhd1
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6360 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location56777524-56797813 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 56779206 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 515 (I515T)
Ref Sequence ENSEMBL: ENSMUSP00000109962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]
Predicted Effect probably damaging
Transcript: ENSMUST00000114321
AA Change: I515T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: I515T

DomainStartEndE-ValueType
BTB 31 128 1.5e-28 SMART
BACK 133 235 7.34e-27 SMART
Kelch 317 380 7.31e0 SMART
Kelch 381 429 4.33e-4 SMART
Kelch 430 469 2.7e0 SMART
Kelch 470 532 7.7e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114323
AA Change: I515T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: I515T

DomainStartEndE-ValueType
BTB 31 128 1.5e-28 SMART
BACK 133 235 7.34e-27 SMART
Kelch 317 380 7.31e0 SMART
Kelch 381 429 4.33e-4 SMART
Kelch 430 469 2.7e0 SMART
Kelch 470 532 7.7e0 SMART
Meta Mutation Damage Score 0.8572 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 98% (59/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele or mutation exhibit diabetes, lipodystrophy, and hepatic steatosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,259,202 Q657* probably null Het
Car15 T C 16: 17,838,066 T560A probably benign Het
Cass4 C T 2: 172,432,611 H769Y probably damaging Het
Cdh6 A G 15: 13,041,460 I506T possibly damaging Het
Clstn3 G T 6: 124,438,429 R659S possibly damaging Het
Cntnap5b C T 1: 100,431,736 R695* probably null Het
Cpsf1 CCCCTGCATGAGGCAGGTCCC CCCC 15: 76,597,455 probably null Het
Dab2ip A G 2: 35,710,266 H355R probably benign Het
Dennd2a C T 6: 39,493,142 A539T probably benign Het
Dnajc18 T C 18: 35,686,709 E173G probably damaging Het
Dock7 T C 4: 98,969,662 I1472V probably benign Het
Esco1 A T 18: 10,574,931 F714I probably damaging Het
Fam107a T G 14: 8,299,619 H73P probably damaging Het
Fam46b T C 4: 133,486,756 F313L probably damaging Het
Flg A G 3: 93,290,601 probably benign Het
Fyn C A 10: 39,526,883 T217K possibly damaging Het
Gbp9 T C 5: 105,083,730 D330G probably benign Het
Gin1 T C 1: 97,792,539 S509P possibly damaging Het
Gm15922 A T 7: 3,736,504 L455Q probably damaging Het
Gm17067 A C 7: 42,708,482 S199A probably benign Het
Grk4 A T 5: 34,674,537 K50M probably damaging Het
Inpp4b A G 8: 81,902,852 H272R probably benign Het
Ipo7 T A 7: 110,027,129 L48Q probably damaging Het
Kcnu1 T A 8: 25,861,180 S190R possibly damaging Het
Kpnb1 T C 11: 97,173,270 N336S probably benign Het
Lbr G T 1: 181,832,155 D158E probably benign Het
Mphosph10 T C 7: 64,389,955 Q89R probably benign Het
Nectin3 T A 16: 46,411,109 T21S probably benign Het
Numb C A 12: 83,797,262 R383L probably damaging Het
Olfr1370 A T 13: 21,072,583 N239K probably damaging Het
Olfr461 G T 6: 40,544,713 Q89K possibly damaging Het
Park2 T C 17: 12,004,052 F363S probably damaging Het
Pcdhb11 A T 18: 37,422,159 I181F probably benign Het
Pcgf2 T A 11: 97,692,409 probably null Het
Pdzd8 T C 19: 59,300,983 T662A probably benign Het
Pex13 A C 11: 23,655,690 V180G probably benign Het
Pkp4 T A 2: 59,214,747 V22D probably benign Het
Ppp1r32 T C 19: 10,479,481 N167D probably damaging Het
Prpf4b A C 13: 34,901,433 D954A probably damaging Het
Rfx8 T C 1: 39,680,965 I317V probably benign Het
Rnaseh2b T C 14: 62,361,419 S198P probably damaging Het
Rock1 A T 18: 10,116,778 C453S possibly damaging Het
Scarf1 G T 11: 75,515,669 G260W probably damaging Het
Scyl1 T C 19: 5,760,571 E538G probably damaging Het
Sec14l5 A T 16: 5,172,995 I267F probably damaging Het
Senp6 T A 9: 80,113,806 V256D probably benign Het
Sf3b4 G A 3: 96,176,728 probably benign Het
Ssh1 T C 5: 113,961,347 probably null Het
Tas2r143 A C 6: 42,400,835 M200L probably benign Het
Tbc1d22a C T 15: 86,214,629 P19S probably damaging Het
Tmc5 T A 7: 118,633,966 M1K probably null Het
Tnc T C 4: 64,000,733 Y1151C probably damaging Het
Tshz3 A G 7: 36,769,441 E285G probably damaging Het
Txndc11 C T 16: 11,084,792 V664M probably damaging Het
Ube2g1 A T 11: 72,663,082 N20Y probably damaging Het
Ufl1 T A 4: 25,265,476 I369L probably benign Het
Vwf A T 6: 125,683,526 T2666S probably benign Het
Yif1a A G 19: 5,092,341 M259V probably benign Het
Zbtb46 T C 2: 181,391,455 D471G probably damaging Het
Other mutations in Kbtbd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02237:Kbtbd2 APN 6 56779048 missense possibly damaging 0.94
infinitesimal UTSW 6 56779090 missense probably damaging 1.00
teeny UTSW 6 56780389 nonsense probably null
tiny UTSW 6 56779206 missense probably damaging 0.99
R0491:Kbtbd2 UTSW 6 56780389 nonsense probably null
R1452:Kbtbd2 UTSW 6 56781924 missense probably damaging 0.98
R1696:Kbtbd2 UTSW 6 56779341 missense probably benign 0.00
R2146:Kbtbd2 UTSW 6 56779090 missense probably damaging 1.00
R4563:Kbtbd2 UTSW 6 56789279 missense probably benign
R4579:Kbtbd2 UTSW 6 56778908 missense probably damaging 0.99
R4702:Kbtbd2 UTSW 6 56779303 missense probably benign 0.00
R4855:Kbtbd2 UTSW 6 56779702 missense probably benign 0.01
R4959:Kbtbd2 UTSW 6 56781958 missense probably benign 0.11
R4973:Kbtbd2 UTSW 6 56781958 missense probably benign 0.11
R5096:Kbtbd2 UTSW 6 56779275 missense probably benign 0.06
R6754:Kbtbd2 UTSW 6 56779254 missense probably damaging 0.99
R6864:Kbtbd2 UTSW 6 56780026 nonsense probably null
R6900:Kbtbd2 UTSW 6 56780023 missense probably damaging 1.00
R7738:Kbtbd2 UTSW 6 56779737 missense possibly damaging 0.92
R8409:Kbtbd2 UTSW 6 56780356 missense probably damaging 0.97
Z1176:Kbtbd2 UTSW 6 56780309 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCGAAAATCTCTCCCTAGGTCC -3'
(R):5'- CTCATGGGTAGAAATGGCCATG -3'

Sequencing Primer
(F):5'- TAGGTCCCACAGTACACGTTCAG -3'
(R):5'- AGGCAGACTAGCAGATCTTTTGC -3'
Posted On2018-04-27