Incidental Mutation 'R5052:Btbd19'
ID 394686
Institutional Source Beutler Lab
Gene Symbol Btbd19
Ensembl Gene ENSMUSG00000073771
Gene Name BTB domain containing 19
Synonyms 9530048O09Rik
MMRRC Submission 042642-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R5052 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 116976416-116982922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 116979454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamine at position 122 (K122Q)
Ref Sequence ENSEMBL: ENSMUSP00000138230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000134074] [ENSMUST00000143213] [ENSMUST00000183310] [ENSMUST00000144269] [ENSMUST00000153257]
AlphaFold S4R1I0
Predicted Effect probably benign
Transcript: ENSMUST00000062206
SMART Domains Protein: ENSMUSP00000052243
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:Tctex-1 121 217 3.7e-23 PFAM
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: ENSMUST00000134074
SMART Domains Protein: ENSMUSP00000114182
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143213
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153924
Predicted Effect possibly damaging
Transcript: ENSMUST00000183310
AA Change: K122Q

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771
AA Change: K122Q

DomainStartEndE-ValueType
BTB 29 124 1.82e-18 SMART
BACK 129 233 4.17e-8 SMART
low complexity region 260 280 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181979
Predicted Effect probably benign
Transcript: ENSMUST00000144269
SMART Domains Protein: ENSMUSP00000122605
Gene: ENSMUSG00000047671

DomainStartEndE-ValueType
low complexity region 17 33 N/A INTRINSIC
Pfam:Tctex-1 118 178 1.3e-9 PFAM
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
Meta Mutation Damage Score 0.0718 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.0%
  • 10x: 94.8%
  • 20x: 86.2%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 A T 3: 121,563,162 (GRCm39) probably null Het
Adgrv1 T C 13: 81,676,940 (GRCm39) T1964A probably damaging Het
Agbl5 C T 5: 31,048,558 (GRCm39) T210I possibly damaging Het
Ak5 T C 3: 152,366,204 (GRCm39) T66A probably benign Het
Aktip G A 8: 91,856,279 (GRCm39) T66I possibly damaging Het
Aldh1l2 T C 10: 83,344,556 (GRCm39) Y330C possibly damaging Het
Cd180 A G 13: 102,841,403 (GRCm39) T150A probably benign Het
Celsr2 A G 3: 108,319,674 (GRCm39) I1046T probably damaging Het
Cep170 C T 1: 176,621,117 (GRCm39) R20Q probably damaging Het
Cercam T A 2: 29,765,639 (GRCm39) N260K probably damaging Het
Cfh T A 1: 140,071,782 (GRCm39) H284L probably damaging Het
Chmp5 A G 4: 40,948,608 (GRCm39) M1V probably null Het
Elp3 A T 14: 65,815,389 (GRCm39) I220N probably damaging Het
Esyt2 A G 12: 116,331,416 (GRCm39) T765A probably damaging Het
Evi5l T C 8: 4,256,019 (GRCm39) probably benign Het
Gm5866 T G 5: 52,740,234 (GRCm39) noncoding transcript Het
Grik1 C A 16: 87,746,986 (GRCm39) G417V probably benign Het
Gtpbp1 T G 15: 79,600,170 (GRCm39) I399R probably damaging Het
Il17rc T C 6: 113,449,284 (GRCm39) C14R probably damaging Het
Ipo9 T C 1: 135,316,349 (GRCm39) probably null Het
Kazn G A 4: 141,845,514 (GRCm39) probably benign Het
Map3k15 T C X: 158,771,742 (GRCm39) V105A possibly damaging Het
Mitf A G 6: 97,987,406 (GRCm39) T320A possibly damaging Het
Ncapd3 T G 9: 26,963,015 (GRCm39) L440R probably damaging Het
Nrxn2 C G 19: 6,505,234 (GRCm39) A359G probably damaging Het
P2rx3 T G 2: 84,829,368 (GRCm39) I371L probably benign Het
Pde1b C A 15: 103,436,075 (GRCm39) Q493K possibly damaging Het
Ptpn13 T C 5: 103,709,846 (GRCm39) F1503S probably damaging Het
Ptprz1 T G 6: 23,045,625 (GRCm39) W1283G probably damaging Het
Rasd2 T A 8: 75,948,564 (GRCm39) D163E possibly damaging Het
Rgs11 A G 17: 26,426,947 (GRCm39) probably benign Het
Scap T C 9: 110,182,220 (GRCm39) I37T possibly damaging Het
Sgms2 C T 3: 131,124,005 (GRCm39) V232M probably benign Het
Slc25a54 A G 3: 109,010,016 (GRCm39) I172V probably benign Het
Sympk C T 7: 18,769,967 (GRCm39) R215C probably benign Het
Tacc2 T A 7: 130,336,744 (GRCm39) D171E probably damaging Het
Tmco4 A G 4: 138,785,817 (GRCm39) E629G probably benign Het
Trav7-1 T G 14: 52,892,765 (GRCm39) L106R possibly damaging Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Utf1 T C 7: 139,524,814 (GRCm39) probably benign Het
Zdhhc13 A G 7: 48,474,479 (GRCm39) N577S possibly damaging Het
Zmym6 A G 4: 127,017,767 (GRCm39) N1183D possibly 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
R5163:Btbd19 UTSW 4 116,978,628 (GRCm39) missense probably damaging 1.00
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'- GAGCACAGGCAGAATTTCTTTC -3'
(R):5'- CTGGGCTTGCTAAATTACAGGTC -3'

Sequencing Primer
(F):5'- GCACAGGCAGAATTTCTTTCATAAGC -3'
(R):5'- GGGCTTGCTAAATTACAGGTCTGAAC -3'
Posted On 2016-06-15