Incidental Mutation 'RF020:Btbd19'
ID 603779
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 # RF020 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 116976416-116982922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116979472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 116 (C116S)
Ref Sequence ENSEMBL: ENSMUSP00000138230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062206] [ENSMUST00000134074] [ENSMUST00000143213] [ENSMUST00000144269] [ENSMUST00000153257] [ENSMUST00000183310]
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 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 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
Predicted Effect probably damaging
Transcript: ENSMUST00000183310
AA Change: C116S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138230
Gene: ENSMUSG00000073771
AA Change: C116S

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: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,132,880 (GRCm39) K1270E possibly damaging Het
Adgrb2 T C 4: 129,903,877 (GRCm39) S668P probably damaging Het
Ahdc1 T G 4: 132,791,588 (GRCm39) L943R possibly damaging Het
Ank2 T C 3: 126,739,125 (GRCm39) K2253R unknown Het
Arhgap23 T C 11: 97,354,387 (GRCm39) S767P probably damaging Het
Arhgef12 A G 9: 42,901,285 (GRCm39) I839T possibly damaging Het
Begain CGCCGC CGCCGCGGCCGC 12: 108,999,350 (GRCm39) probably benign Het
Cbr1 C T 16: 93,407,067 (GRCm39) A261V probably benign Het
Ccdc137 A G 11: 120,349,022 (GRCm39) R18G probably benign Het
Cdsn AG AGACAGGAAGTAGTAGCTCTCAG 17: 35,865,876 (GRCm39) probably benign Het
Celsr3 C T 9: 108,726,256 (GRCm39) R3162C probably benign Het
Cep350 A T 1: 155,791,224 (GRCm39) V1300E probably benign Het
Cluh G GCCAGAT 11: 74,560,364 (GRCm39) probably benign Het
Cmya5 G T 13: 93,205,799 (GRCm39) Q3357K possibly damaging Het
Col6a2 T G 10: 76,442,043 (GRCm39) probably null Het
Cyp2j9 T A 4: 96,465,889 (GRCm39) T315S probably damaging Het
Cyp3a13 CATTATT CATT 5: 137,892,525 (GRCm39) probably null Het
Dnah6 T A 6: 73,095,040 (GRCm39) Y2181F probably benign Het
Dnah7b A G 1: 46,412,421 (GRCm39) D4010G possibly damaging Het
E4f1 CCG CCGACG 17: 24,674,169 (GRCm39) probably benign Het
Ep300 A T 15: 81,470,772 (GRCm39) probably benign Het
Fam234a A G 17: 26,437,725 (GRCm39) V90A probably benign Het
Gab3 TCT TCTGCT X: 74,043,623 (GRCm39) probably benign Het
Gal3st1 A G 11: 3,948,153 (GRCm39) Y120C possibly damaging Het
Garin5a GGA GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA 7: 44,149,959 (GRCm39) probably null Het
Gm5475 GTGGAAGGAAAGGT G 15: 100,325,030 (GRCm39) probably null Het
Gm6665 T TC 18: 31,953,430 (GRCm39) probably null Het
Hdlbp T C 1: 93,368,456 (GRCm39) T8A probably benign Het
Hnrnpa2b1 T A 6: 51,443,674 (GRCm39) K92N probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Klhl10 C G 11: 100,332,896 (GRCm39) Q14E probably benign Het
Klra2 GAAAGAAATCCA GAAAGAAATCCAAAGAAATCCA 6: 131,198,801 (GRCm39) probably null Het
Kmt2b CC CCTCCTGC 7: 30,285,807 (GRCm39) probably benign Het
Krt1c A G 15: 101,726,403 (GRCm39) I45T unknown Het
Ksr2 T C 5: 117,693,283 (GRCm39) S244P probably benign Het
Lama5 A T 2: 179,837,971 (GRCm39) M915K probably benign Het
Lrp1b A C 2: 41,660,858 (GRCm39) H197Q Het
Lrrc1 T C 9: 77,359,913 (GRCm39) E293G probably damaging Het
Med12l AACA AACAACA 3: 59,183,379 (GRCm39) probably benign Het
Mgam T A 6: 40,662,243 (GRCm39) Y1179N probably damaging Het
Mgat4c A G 10: 102,224,928 (GRCm39) I381V probably benign Het
Mrgprx1 A AGAC 7: 47,671,259 (GRCm39) probably benign Het
Myc A T 15: 61,857,672 (GRCm39) probably benign Het
Nipbl A G 15: 8,388,418 (GRCm39) S401P probably damaging Het
Nlrp9c A T 7: 26,084,649 (GRCm39) I310N probably benign Het
Nwd2 C A 5: 63,963,066 (GRCm39) Y883* probably null Het
Oas1e T A 5: 120,932,383 (GRCm39) T87S possibly damaging Het
Or10n7-ps1 GA GATACA 9: 39,598,049 (GRCm39) probably null Het
Or51a5 A T 7: 102,771,098 (GRCm39) C294S probably benign Het
Or52d3 A G 7: 104,229,497 (GRCm39) M215V probably benign Het
Or8b38 G A 9: 37,972,620 (GRCm39) M1I probably null Het
Pappa T G 4: 65,123,282 (GRCm39) S872R possibly damaging Het
Parp4 T C 14: 56,884,806 (GRCm39) L1295P unknown Het
Pcdh15 A T 10: 74,021,242 (GRCm39) Y152F probably damaging Het
Pdk1 A T 2: 71,714,240 (GRCm39) I217L possibly damaging Het
Phldb1 A C 9: 44,609,243 (GRCm39) C450W probably damaging Het
Pnma8a C CCATGATGCACCTGCTTCAACATCA 7: 16,695,376 (GRCm39) probably benign Het
Prl2c5 G A 13: 13,360,497 (GRCm39) G55S probably benign Het
Psme2b A T 11: 48,836,397 (GRCm39) H183Q probably damaging Het
Ptms CCTCCTC CCTCCTCCTC 6: 124,891,412 (GRCm39) probably benign Het
Rln3 T C 8: 84,769,931 (GRCm39) T73A probably benign Het
Rprd1a T A 18: 24,663,062 (GRCm39) Q21L probably damaging Het
Septin3 A T 15: 82,168,662 (GRCm39) D155V probably damaging Het
Sh3rf3 T A 10: 58,649,590 (GRCm39) V65E probably damaging Het
Shank3 A G 15: 89,384,593 (GRCm39) N155S probably benign Het
Shox2 G T 3: 66,881,146 (GRCm39) P278Q probably damaging Het
Slc1a1 T C 19: 28,856,555 (GRCm39) probably null Het
Slc39a10 A T 1: 46,849,175 (GRCm39) F814I probably damaging Het
Slc5a1 T C 5: 33,290,773 (GRCm39) I119T probably damaging Het
Slc6a13 T C 6: 121,301,310 (GRCm39) probably null Het
Spmap2l CAGCGATCCTCCCCAGTCCCGCAAGGC CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC 5: 77,164,247 (GRCm39) probably benign Het
Spta1 A G 1: 174,041,010 (GRCm39) D1270G probably benign Het
Spta1 T A 1: 174,045,469 (GRCm39) F1542L probably damaging Het
Tacc3 T A 5: 33,818,568 (GRCm39) M1K probably null Het
Tax1bp1 T C 6: 52,698,339 (GRCm39) V17A probably damaging Het
Tmem156 T A 5: 65,248,890 (GRCm39) E3D probably benign Het
Tmem209 T A 6: 30,487,417 (GRCm39) M530L probably benign Het
Trpc2 A G 7: 101,745,433 (GRCm39) D883G unknown Het
Tsen34 GGAGCCAAAAT G 7: 3,698,795 (GRCm39) probably null Het
Uhrf2 T C 19: 30,063,791 (GRCm39) Y585H probably damaging Het
Vmn1r26 T A 6: 57,985,705 (GRCm39) K161N probably benign Het
Vmn1r29 A G 6: 58,284,528 (GRCm39) S83G probably benign Het
Vps13b G T 15: 35,925,552 (GRCm39) W3829L probably null Het
Vwce G A 19: 10,630,449 (GRCm39) G503R probably damaging Het
Zc3h11a T C 1: 133,554,735 (GRCm39) E415G possibly damaging Het
Zc3h14 T A 12: 98,746,541 (GRCm39) probably null Het
Zfp119b A T 17: 56,246,499 (GRCm39) M229K probably benign Het
Zfp384 CCAAGCTCAAGC CCAAGC 6: 125,013,418 (GRCm39) probably benign Het
Zfp384 GGCCCAGGC GGCCCAGGCCCACGCCCAGGC 6: 125,013,451 (GRCm39) probably benign Het
Zyx T A 6: 42,334,330 (GRCm39) L518Q 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
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
Predicted Primers PCR Primer
(F):5'- TTTAACAGACAGACCAGTCCGG -3'
(R):5'- TTTTACCAGAGACAAGTGTACCAG -3'

Sequencing Primer
(F):5'- ACCAGTCCGGGCTTCTGAC -3'
(R):5'- CCTCTGGGCTTGCTAAATTACAGG -3'
Posted On 2019-12-04