Incidental Mutation 'R5163:Btbd19'
ID 397092
Institutional Source Beutler Lab
Gene Symbol Btbd19
Ensembl Gene ENSMUSG00000073771
Gene Name BTB domain containing 19
Synonyms 9530048O09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5163 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 116976416-116982922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116978628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 152 (I152L)
Ref Sequence ENSEMBL: ENSMUSP00000138230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000143213] [ENSMUST00000153257] [ENSMUST00000183310]
AlphaFold S4R1I0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000097915
SMART Domains Protein: ENSMUSP00000095528
Gene: ENSMUSG00000073771

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125896
Predicted Effect probably benign
Transcript: ENSMUST00000143213
Predicted Effect probably benign
Transcript: ENSMUST00000153257
SMART Domains Protein: ENSMUSP00000121768
Gene: ENSMUSG00000073771

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Blast:BACK 33 84 5e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181979
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153924
Predicted Effect probably damaging
Transcript: ENSMUST00000183310
AA Change: I152L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771
AA Change: I152L

DomainStartEndE-ValueType
BTB 29 124 1.82e-18 SMART
BACK 129 233 4.17e-8 SMART
low complexity region 260 280 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Bcor C T X: 11,906,725 (GRCm39) R1551Q probably damaging Het
Dnaaf11 T C 15: 66,314,067 (GRCm39) D311G probably benign Het
Dync2i1 C T 12: 116,219,486 (GRCm39) R152H possibly damaging Het
Ercc6l2 A G 13: 64,046,845 (GRCm39) probably benign Het
Fat4 A G 3: 39,034,946 (GRCm39) D2866G probably damaging Het
Fkbp10 C T 11: 100,313,925 (GRCm39) A311V probably benign Het
Fnbp1l T C 3: 122,338,312 (GRCm39) N511S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gltp A G 5: 114,812,122 (GRCm39) I147T probably benign Het
Gpr37 A T 6: 25,669,614 (GRCm39) I410N possibly damaging Het
Hivep2 G A 10: 14,015,169 (GRCm39) G1779R probably damaging Het
Ifna14 T C 4: 88,489,599 (GRCm39) Y146C probably damaging Het
Loxhd1 A G 18: 77,449,432 (GRCm39) D662G possibly damaging Het
Lrrc9 A T 12: 72,496,163 (GRCm39) I13F probably damaging Het
Map2k3 T A 11: 60,834,317 (GRCm39) I95N probably damaging Het
Mark1 A G 1: 184,637,807 (GRCm39) I594T probably damaging Het
Mettl14 T C 3: 123,168,474 (GRCm39) I189V possibly damaging Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Odf4 C A 11: 68,813,672 (GRCm39) C133F probably damaging Het
Opa1 A T 16: 29,416,438 (GRCm39) Q106L probably damaging Het
Or10d5j T C 9: 39,868,216 (GRCm39) N5S probably damaging Het
Pax4 T G 6: 28,446,269 (GRCm39) S75R probably damaging Het
Ppfibp1 T A 6: 146,923,629 (GRCm39) probably null Het
Ptpn20 T C 14: 33,353,068 (GRCm39) I269T probably benign Het
Ptprq T C 10: 107,360,192 (GRCm39) Q2161R probably damaging Het
Rab22a A G 2: 173,503,280 (GRCm39) D31G probably damaging Het
Rap1gds1 A T 3: 138,664,817 (GRCm39) M296K probably damaging Het
Rfx1 A G 8: 84,819,840 (GRCm39) T692A probably damaging Het
Sf3b2 A G 19: 5,325,165 (GRCm39) V769A probably damaging Het
Skint5 A T 4: 113,652,762 (GRCm39) F621I unknown Het
Spink5 A C 18: 44,132,924 (GRCm39) R513S possibly damaging Het
Srrm2 C T 17: 24,038,524 (GRCm39) probably benign Het
Srrt A G 5: 137,295,035 (GRCm39) probably null Het
Sun3 T C 11: 8,973,295 (GRCm39) Q134R possibly damaging Het
Tpo A G 12: 30,155,979 (GRCm39) V174A probably benign Het
Ucp1 A G 8: 84,020,832 (GRCm39) R183G possibly damaging Het
Vmn2r66 A G 7: 84,656,017 (GRCm39) V333A probably benign Het
Zfp108 G T 7: 23,960,163 (GRCm39) K251N probably benign Het
Zfp936 A G 7: 42,839,664 (GRCm39) Q377R probably damaging Het
Zkscan2 T C 7: 123,099,090 (GRCm39) E34G probably benign Het
Zup1 T A 10: 33,825,439 (GRCm39) E14D probably damaging Het
Other mutations in Btbd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3690:Btbd19 UTSW 4 116,977,789 (GRCm39) utr 3 prime probably benign
R3691:Btbd19 UTSW 4 116,977,789 (GRCm39) utr 3 prime probably benign
R4907:Btbd19 UTSW 4 116,977,764 (GRCm39) utr 3 prime probably benign
R5052:Btbd19 UTSW 4 116,979,454 (GRCm39) missense possibly damaging 0.60
R5396:Btbd19 UTSW 4 116,980,957 (GRCm39) missense probably damaging 1.00
R5398:Btbd19 UTSW 4 116,980,957 (GRCm39) missense probably damaging 1.00
R5399:Btbd19 UTSW 4 116,980,957 (GRCm39) missense probably damaging 1.00
R5998:Btbd19 UTSW 4 116,978,196 (GRCm39) missense probably benign 0.39
R7313:Btbd19 UTSW 4 116,978,616 (GRCm39) missense probably damaging 1.00
R9105:Btbd19 UTSW 4 116,977,961 (GRCm39) missense probably damaging 0.98
RF020:Btbd19 UTSW 4 116,979,472 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGAGCTTGTCACTGCGTAG -3'
(R):5'- GACCTGAACATGGTCTCCTC -3'

Sequencing Primer
(F):5'- TAGCACAGGCAGCAGCG -3'
(R):5'- GCCTACTTTCAGGAGACACTG -3'
Posted On 2016-06-21