Incidental Mutation 'R5163:Btbd19'
ID397092
Institutional Source Beutler Lab
Gene Symbol Btbd19
Ensembl Gene ENSMUSG00000073771
Gene NameBTB (POZ) domain containing 19
Synonyms9530048O09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #R5163 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location117119219-117125725 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 117121431 bp
ZygosityHeterozygous
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]
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: ENSMUST00000153924
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181979
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: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
Bcor C T X: 12,040,486 R1551Q probably damaging Het
Ercc6l2 A G 13: 63,899,031 probably benign Het
Fat4 A G 3: 38,980,797 D2866G probably damaging Het
Fkbp10 C T 11: 100,423,099 A311V probably benign Het
Fnbp1l T C 3: 122,544,663 N511S probably benign Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gltp A G 5: 114,674,061 I147T probably benign Het
Gpr37 A T 6: 25,669,615 I410N possibly damaging Het
Hivep2 G A 10: 14,139,425 G1779R probably damaging Het
Ifna14 T C 4: 88,571,362 Y146C probably damaging Het
Loxhd1 A G 18: 77,361,736 D662G possibly damaging Het
Lrrc6 T C 15: 66,442,218 D311G probably benign Het
Lrrc9 A T 12: 72,449,389 I13F probably damaging Het
Map2k3 T A 11: 60,943,491 I95N probably damaging Het
Mark1 A G 1: 184,905,610 I594T probably damaging Het
Mettl14 T C 3: 123,374,825 I189V possibly damaging Het
Msh2 C A 17: 87,723,413 A906E probably benign Het
Odf4 C A 11: 68,922,846 C133F probably damaging Het
Olfr976 T C 9: 39,956,920 N5S probably damaging Het
Opa1 A T 16: 29,597,620 Q106L probably damaging Het
Pax4 T G 6: 28,446,270 S75R probably damaging Het
Ppfibp1 T A 6: 147,022,131 probably null Het
Ptpn20 T C 14: 33,631,111 I269T probably benign Het
Ptprq T C 10: 107,524,331 Q2161R probably damaging Het
Rab22a A G 2: 173,661,487 D31G probably damaging Het
Rap1gds1 A T 3: 138,959,056 M296K probably damaging Het
Rfx1 A G 8: 84,093,211 T692A probably damaging Het
Sf3b2 A G 19: 5,275,137 V769A probably damaging Het
Skint5 A T 4: 113,795,565 F621I unknown Het
Spink5 A C 18: 43,999,857 R513S possibly damaging Het
Srrm2 C T 17: 23,819,550 probably benign Het
Srrt A G 5: 137,296,773 probably null Het
Sun3 T C 11: 9,023,295 Q134R possibly damaging Het
Tpo A G 12: 30,105,980 V174A probably benign Het
Ucp1 A G 8: 83,294,203 R183G possibly damaging Het
Vmn2r66 A G 7: 85,006,809 V333A probably benign Het
Wdr60 C T 12: 116,255,866 R152H possibly damaging Het
Zfp108 G T 7: 24,260,738 K251N probably benign Het
Zfp936 A G 7: 43,190,240 Q377R probably damaging Het
Zkscan2 T C 7: 123,499,867 E34G probably benign Het
Zufsp T A 10: 33,949,443 E14D probably damaging Het
Other mutations in Btbd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3690:Btbd19 UTSW 4 117120592 utr 3 prime probably benign
R3691:Btbd19 UTSW 4 117120592 utr 3 prime probably benign
R4907:Btbd19 UTSW 4 117120567 utr 3 prime probably benign
R5052:Btbd19 UTSW 4 117122257 missense possibly damaging 0.60
R5396:Btbd19 UTSW 4 117123760 missense probably damaging 1.00
R5398:Btbd19 UTSW 4 117123760 missense probably damaging 1.00
R5399:Btbd19 UTSW 4 117123760 missense probably damaging 1.00
R5998:Btbd19 UTSW 4 117120999 missense probably benign 0.39
R7313:Btbd19 UTSW 4 117121419 missense probably damaging 1.00
RF020:Btbd19 UTSW 4 117122275 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 On2016-06-21