Incidental Mutation 'R9279:Btbd18'
ID 703485
Institutional Source Beutler Lab
Gene Symbol Btbd18
Ensembl Gene ENSMUSG00000086598
Gene Name BTB domain containing 18
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R9279 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 84489423-84499124 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84491920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 34 (C34S)
Ref Sequence ENSEMBL: ENSMUSP00000142247 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000133437] [ENSMUST00000189772]
AlphaFold A0A0A6YY25
Predicted Effect probably damaging
Transcript: ENSMUST00000133437
AA Change: C34S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598
AA Change: C34S

DomainStartEndE-ValueType
BTB 34 132 4.96e-11 SMART
low complexity region 217 230 N/A INTRINSIC
low complexity region 271 286 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189772
SMART Domains Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

DomainStartEndE-ValueType
coiled coil region 10 45 N/A INTRINSIC
low complexity region 126 153 N/A INTRINSIC
ARM 397 437 2.53e-6 SMART
ARM 440 481 2.8e-8 SMART
ARM 482 539 6.3e1 SMART
ARM 541 588 3.74e0 SMART
Blast:ARM 651 693 9e-20 BLAST
ARM 699 739 1.23e-4 SMART
ARM 789 831 4.41e1 SMART
low complexity region 857 868 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (50/50)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased male germ cell apoptosis and arrested spermiogenesis resulting in azoospermia and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr7a5 A T 4: 139,044,079 (GRCm39) H225L possibly damaging Het
Arhgap32 C A 9: 32,168,655 (GRCm39) H879Q probably benign Het
Axin2 A G 11: 108,833,128 (GRCm39) I438V possibly damaging Het
Carns1 G T 19: 4,216,256 (GRCm39) T642N possibly damaging Het
Casp8 T C 1: 58,883,542 (GRCm39) I283T probably benign Het
Ccdc136 T A 6: 29,421,982 (GRCm39) probably benign Het
Ccnk C A 12: 108,161,946 (GRCm39) Q284K unknown Het
Ceacam12 T A 7: 17,801,177 (GRCm39) L52H probably damaging Het
Cit G A 5: 116,065,970 (GRCm39) D540N probably damaging Het
Cntnap1 T C 11: 101,072,121 (GRCm39) V458A probably damaging Het
Col6a5 T A 9: 105,758,976 (GRCm39) I2077F probably damaging Het
Dnah2 T C 11: 69,409,104 (GRCm39) K425E probably benign Het
Eya2 A G 2: 165,529,631 (GRCm39) S125G probably benign Het
Gabrg1 T G 5: 70,934,599 (GRCm39) M260L probably benign Het
Greb1 T C 12: 16,732,153 (GRCm39) S1603G probably damaging Het
Isx A G 8: 75,600,434 (GRCm39) T56A probably benign Het
Kif2b A T 11: 91,467,975 (GRCm39) S103T probably benign Het
Krtap26-1 T C 16: 88,444,342 (GRCm39) H93R probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mdm4 G A 1: 132,924,416 (GRCm39) T236M probably damaging Het
Mgat5 T A 1: 127,325,348 (GRCm39) L405Q probably damaging Het
Msantd1 A G 5: 35,080,885 (GRCm39) I272V probably benign Het
Ocstamp A G 2: 165,237,768 (GRCm39) *499Q probably null Het
Or11h6 A G 14: 50,880,493 (GRCm39) K252E possibly damaging Het
Or1e16 G A 11: 73,279,789 (GRCm39) P21L probably benign Het
Or2n1d G A 17: 38,646,414 (GRCm39) R122Q probably damaging Het
Or4c100 A G 2: 88,356,211 (GRCm39) M95V probably benign Het
Or5b12 A T 19: 12,897,309 (GRCm39) Y121* probably null Het
Pcdh15 T A 10: 74,461,756 (GRCm39) probably benign Het
Pkdrej C T 15: 85,700,834 (GRCm39) G1701S probably damaging Het
Ppp1r9a A G 6: 5,113,757 (GRCm39) T754A probably damaging Het
Prss8 C A 7: 127,527,082 (GRCm39) Q55H probably damaging Het
Psg20 G T 7: 18,416,670 (GRCm39) R149S probably benign Het
Ptprz1 T G 6: 23,002,444 (GRCm39) N1511K probably benign Het
Rbbp8nl C T 2: 179,920,894 (GRCm39) probably null Het
Sgk2 A G 2: 162,854,975 (GRCm39) D362G probably benign Het
Sim1 T C 10: 50,859,796 (GRCm39) Y553H probably damaging Het
Sipa1l2 T C 8: 126,208,896 (GRCm39) D504G probably damaging Het
Smad7 T C 18: 75,502,547 (GRCm39) V174A possibly damaging Het
Smarcc1 T A 9: 109,996,792 (GRCm39) N303K possibly damaging Het
Snai3 T C 8: 123,183,038 (GRCm39) H169R possibly damaging Het
Tecpr2 T A 12: 110,895,505 (GRCm39) S331T possibly damaging Het
Tenm2 G A 11: 35,959,303 (GRCm39) T1082I probably benign Het
Tle4 A T 19: 14,429,890 (GRCm39) I627N probably damaging Het
Tnxb A T 17: 34,898,088 (GRCm39) N912I possibly damaging Het
Ube2q2l A G 6: 136,377,978 (GRCm39) V284A probably damaging Het
Vmn1r238 A T 18: 3,122,994 (GRCm39) V140E probably damaging Het
Vmn1r65 G A 7: 6,011,988 (GRCm39) T82I probably benign Het
Vps13b A G 15: 35,572,290 (GRCm39) K969R probably damaging Het
Zfp943 A G 17: 22,209,832 (GRCm39) R35G possibly damaging Het
Other mutations in Btbd18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4519:Btbd18 UTSW 2 84,497,924 (GRCm39) missense probably damaging 1.00
R4751:Btbd18 UTSW 2 84,498,265 (GRCm39) nonsense probably null
R5209:Btbd18 UTSW 2 84,498,443 (GRCm39) missense possibly damaging 0.90
R7126:Btbd18 UTSW 2 84,496,546 (GRCm39) missense possibly damaging 0.84
R7153:Btbd18 UTSW 2 84,496,772 (GRCm39) nonsense probably null
R7362:Btbd18 UTSW 2 84,491,887 (GRCm39) nonsense probably null
R7963:Btbd18 UTSW 2 84,498,239 (GRCm39) missense probably benign 0.02
R8094:Btbd18 UTSW 2 84,498,260 (GRCm39) missense possibly damaging 0.84
R8821:Btbd18 UTSW 2 84,497,601 (GRCm39) missense probably damaging 0.96
R9397:Btbd18 UTSW 2 84,497,810 (GRCm39) missense probably damaging 0.99
R9443:Btbd18 UTSW 2 84,497,524 (GRCm39) missense probably benign 0.01
R9696:Btbd18 UTSW 2 84,497,854 (GRCm39) nonsense probably null
Z1177:Btbd18 UTSW 2 84,491,912 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCTTGTGTTTCTTCAACTCATT -3'
(R):5'- CAACAATTCTACTCTTGAGAACAGTTT -3'

Sequencing Primer
(F):5'- ACAACATGTGCTCTCCTG -3'
(R):5'- TTCTAGGTCACCAGGGCTACATAG -3'
Posted On 2022-03-25