Incidental Mutation 'R7738:Kbtbd2'
ID596369
Institutional Source Beutler Lab
Gene Symbol Kbtbd2
Ensembl Gene ENSMUSG00000059486
Gene Namekelch repeat and BTB (POZ) domain containing 2
SynonymsBklhd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7738 (G1)
Quality Score225.009
Status Not validated
Chromosome6
Chromosomal Location56777524-56797813 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 56779737 bp
ZygosityHeterozygous
Amino Acid Change Serine to Isoleucine at position 338 (S338I)
Ref Sequence ENSEMBL: ENSMUSP00000109960 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114321] [ENSMUST00000114323]
Predicted Effect possibly damaging
Transcript: ENSMUST00000114321
AA Change: S338I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109960
Gene: ENSMUSG00000059486
AA Change: S338I

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 possibly damaging
Transcript: ENSMUST00000114323
AA Change: S338I

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109962
Gene: ENSMUSG00000059486
AA Change: S338I

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 T A 1: 6,389,504 D101E probably benign Het
Ank2 C T 3: 126,947,622 A1538T Het
Arhgap21 A G 2: 20,849,479 S1701P probably damaging Het
Arhgap21 A G 2: 20,850,358 Y1408H probably damaging Het
Armc3 A T 2: 19,288,950 L517F probably damaging Het
Cep57l1 T A 10: 41,740,846 E148D probably damaging Het
Clstn1 A C 4: 149,635,354 Q452P probably damaging Het
Csmd1 C A 8: 16,100,990 R1437L probably damaging Het
Dcbld1 C T 10: 52,312,826 T249I possibly damaging Het
Dsp A G 13: 38,185,175 E749G probably damaging Het
Enox1 A C 14: 77,577,780 N126T probably damaging Het
Fgfr1 T A 8: 25,558,185 L99Q probably damaging Het
Fscn3 G A 6: 28,434,446 R340Q probably benign Het
Glrb C T 3: 80,860,184 C243Y probably damaging Het
Gpld1 A T 13: 24,962,322 Y183F probably damaging Het
Has2 T C 15: 56,667,712 K536E possibly damaging Het
Igtp A G 11: 58,207,080 E359G probably benign Het
Kat14 A G 2: 144,394,242 D509G probably damaging Het
Mpdz A G 4: 81,335,749 S1049P probably benign Het
Ncoa3 C T 2: 166,050,067 A121V probably damaging Het
Nfatc4 A G 14: 55,831,957 T647A possibly damaging Het
Nip7 T C 8: 107,057,365 F79S probably damaging Het
Nrxn3 A C 12: 88,850,304 E251D possibly damaging Het
Olfr198 G A 16: 59,201,955 A157V probably benign Het
Olfr544 C A 7: 102,484,611 V170F probably damaging Het
Olig2 T C 16: 91,227,160 I254T unknown Het
Ostf1 A T 19: 18,584,701 L177* probably null Het
Pabpc2 A T 18: 39,774,266 I195F possibly damaging Het
Pacs1 A T 19: 5,152,350 M404K probably benign Het
Pcdh1 A G 18: 38,197,476 S964P probably benign Het
Pcdhb3 T A 18: 37,302,959 N659K probably benign Het
Pla2g6 A T 15: 79,297,433 Y537* probably null Het
Plekhn1 G A 4: 156,232,234 T330M probably damaging Het
Proc G A 18: 32,127,479 R198* probably null Het
Rfx8 G T 1: 39,682,931 T298K probably damaging Het
S1pr4 A C 10: 81,498,507 S378A probably benign Het
Slfn2 T A 11: 83,069,973 F259L probably damaging Het
Snx14 T C 9: 88,407,474 T242A probably benign Het
Sptbn2 A G 19: 4,724,125 N68S probably damaging Het
Tex45 T C 8: 3,483,525 F277S probably damaging Het
Tmem44 A T 16: 30,543,410 S201T probably benign Het
Ttc3 A T 16: 94,387,382 I177L probably benign Het
Vmn1r177 T C 7: 23,866,134 T106A probably damaging Het
Vmn1r28 T C 6: 58,266,054 M294T probably benign Het
Zfp518b G A 5: 38,672,187 T825I probably benign Het
Zfp729b A T 13: 67,592,075 N690K probably benign 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
R6360:Kbtbd2 UTSW 6 56779206 missense probably damaging 0.99
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
Z1176:Kbtbd2 UTSW 6 56780309 missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CCGGTTAAGTTCTCCACCAAC -3'
(R):5'- CCAGACTTGGGATGACTAAGG -3'

Sequencing Primer
(F):5'- AACACTATCTCCTCCGATTGCATAG -3'
(R):5'- TCCTCAGAAAACCCTTGTAGTC -3'
Posted On2019-11-26