Incidental Mutation 'R0765:Btbd8'
ID 72601
Institutional Source Beutler Lab
Gene Symbol Btbd8
Ensembl Gene ENSMUSG00000070632
Gene Name BTB domain containing 8
Synonyms EG627196, A830010M20Rik, Gm16115
MMRRC Submission 038945-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R0765 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 107585863-107659073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107654800 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 354 (D354E)
Ref Sequence ENSEMBL: ENSMUSP00000098511 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060553] [ENSMUST00000100951] [ENSMUST00000112671] [ENSMUST00000152474] [ENSMUST00000160160] [ENSMUST00000211896]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000060553
Predicted Effect probably benign
Transcript: ENSMUST00000100951
AA Change: D354E

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000098511
Gene: ENSMUSG00000111375
AA Change: D354E

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Pfam:DUF4596 1195 1239 2.6e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112671
AA Change: D354E

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000108290
Gene: ENSMUSG00000111375
AA Change: D354E

DomainStartEndE-ValueType
low complexity region 340 353 N/A INTRINSIC
low complexity region 698 709 N/A INTRINSIC
low complexity region 946 957 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133800
Predicted Effect probably benign
Transcript: ENSMUST00000143074
SMART Domains Protein: ENSMUSP00000122032
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
low complexity region 116 127 N/A INTRINSIC
low complexity region 364 375 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152474
AA Change: D353E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114881
Gene: ENSMUSG00000111375
AA Change: D353E

DomainStartEndE-ValueType
low complexity region 339 352 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160160
SMART Domains Protein: ENSMUSP00000124398
Gene: ENSMUSG00000106631

DomainStartEndE-ValueType
Pfam:DUF4580 10 140 1.5e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000211896
AA Change: D866E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Meta Mutation Damage Score 0.0599 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 92.7%
Validation Efficiency 100% (62/62)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,827 (GRCm39) V425D probably benign Het
Ano9 T G 7: 140,687,097 (GRCm39) I381L probably damaging Het
Apob C T 12: 8,066,518 (GRCm39) L4496F probably benign Het
Arhgef38 C T 3: 132,822,344 (GRCm39) E724K probably damaging Het
Atp8b4 T A 2: 126,214,070 (GRCm39) probably null Het
Baiap2l1 G T 5: 144,214,513 (GRCm39) P394T probably damaging Het
Cnbp C A 6: 87,822,155 (GRCm39) C122F probably damaging Het
Col3a1 A G 1: 45,375,811 (GRCm39) probably benign Het
Colq T G 14: 31,247,994 (GRCm39) D408A possibly damaging Het
Cuzd1 A T 7: 130,917,824 (GRCm39) S259T probably benign Het
Cyp3a57 A G 5: 145,327,220 (GRCm39) probably benign Het
Dbn1 C A 13: 55,630,107 (GRCm39) V112F probably damaging Het
Dcc T A 18: 71,496,061 (GRCm39) D1028V probably damaging Het
Dnajb11 T C 16: 22,681,318 (GRCm39) V32A probably damaging Het
Dsg4 G A 18: 20,587,703 (GRCm39) probably benign Het
Dyrk1b C T 7: 27,885,136 (GRCm39) probably benign Het
Ebf1 T A 11: 44,759,987 (GRCm39) M208K probably damaging Het
Efhc1 A G 1: 21,048,876 (GRCm39) I430V probably benign Het
Elovl2 T C 13: 41,340,942 (GRCm39) Y181C probably benign Het
Fras1 A G 5: 96,700,655 (GRCm39) Q225R probably benign Het
Frmd3 G A 4: 74,080,004 (GRCm39) R332Q probably damaging Het
Glg1 A G 8: 111,886,429 (GRCm39) probably null Het
Hmcn1 G A 1: 150,684,538 (GRCm39) T344M probably damaging Het
Il1rap T G 16: 26,529,382 (GRCm39) probably null Het
Klra1 A T 6: 130,356,055 (GRCm39) probably benign Het
Larp7 C A 3: 127,339,814 (GRCm39) K289N probably damaging Het
Lgr6 C A 1: 134,921,624 (GRCm39) G240V probably benign Het
Lrp10 G T 14: 54,705,547 (GRCm39) D246Y probably damaging Het
Map3k20 G A 2: 72,202,269 (GRCm39) V167I probably damaging Het
Med23 T C 10: 24,776,608 (GRCm39) S347P probably damaging Het
Mybph T C 1: 134,125,234 (GRCm39) V254A possibly damaging Het
Ndufv2 A G 17: 66,408,073 (GRCm39) probably benign Het
Nuf2 A T 1: 169,350,505 (GRCm39) probably benign Het
Nup210l T C 3: 90,027,184 (GRCm39) Y189H probably damaging Het
Or4c52 G A 2: 89,846,014 (GRCm39) V247I probably benign Het
Or51t4 C T 7: 102,597,939 (GRCm39) T79I probably damaging Het
Or5m13 T C 2: 85,749,049 (GRCm39) L260P probably damaging Het
Pdgfra C A 5: 75,348,648 (GRCm39) probably benign Het
Phlpp1 T C 1: 106,320,013 (GRCm39) L1336P probably damaging Het
Prpf38b T C 3: 108,818,734 (GRCm39) T9A possibly damaging Het
Rnf213 G A 11: 119,313,921 (GRCm39) probably null Het
Saal1 A T 7: 46,349,071 (GRCm39) V281E possibly damaging Het
Slc17a3 C T 13: 24,030,879 (GRCm39) Q186* probably null Het
Slc6a2 A G 8: 93,715,659 (GRCm39) T266A probably damaging Het
Snai2 T C 16: 14,524,668 (GRCm39) V58A possibly damaging Het
Srfbp1 T C 18: 52,623,507 (GRCm39) probably benign Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Tesk1 C T 4: 43,446,706 (GRCm39) P365S possibly damaging Het
Tmem127 C A 2: 127,099,069 (GRCm39) T201K probably damaging Het
Trim17 T G 11: 58,862,195 (GRCm39) V409G possibly damaging Het
Trim43c C T 9: 88,723,969 (GRCm39) T165I probably benign Het
Ush2a C A 1: 188,680,771 (GRCm39) F4916L possibly damaging Het
Vmn1r89 A G 7: 12,953,467 (GRCm39) M68V probably benign Het
Vmn2r105 C T 17: 20,447,973 (GRCm39) E284K probably benign Het
Vmn2r105 T C 17: 20,448,119 (GRCm39) D235G probably damaging Het
Vmn2r-ps134 C T 17: 23,665,015 (GRCm39) noncoding transcript Het
Zdbf2 G A 1: 63,344,882 (GRCm39) S1087N possibly damaging Het
Zfp534 G A 4: 147,758,693 (GRCm39) P659S probably damaging Het
Other mutations in Btbd8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01911:Btbd8 APN 5 107,656,446 (GRCm39) missense probably damaging 1.00
IGL02638:Btbd8 APN 5 107,656,422 (GRCm39) missense possibly damaging 0.87
IGL03001:Btbd8 APN 5 107,645,708 (GRCm39) missense probably damaging 1.00
IGL03007:Btbd8 APN 5 107,651,542 (GRCm39) missense probably benign 0.37
IGL03008:Btbd8 APN 5 107,639,464 (GRCm39) splice site probably null
IGL03281:Btbd8 APN 5 107,651,742 (GRCm39) missense probably benign 0.02
R0206:Btbd8 UTSW 5 107,652,906 (GRCm39) missense probably benign 0.00
R0426:Btbd8 UTSW 5 107,658,239 (GRCm39) missense probably damaging 1.00
R1747:Btbd8 UTSW 5 107,599,865 (GRCm39) missense probably damaging 1.00
R2013:Btbd8 UTSW 5 107,658,655 (GRCm39) missense probably damaging 0.99
R2338:Btbd8 UTSW 5 107,658,440 (GRCm39) missense probably damaging 0.99
R3963:Btbd8 UTSW 5 107,655,222 (GRCm39) missense probably damaging 0.99
R4460:Btbd8 UTSW 5 107,651,631 (GRCm39) missense possibly damaging 0.74
R4776:Btbd8 UTSW 5 107,658,317 (GRCm39) missense probably damaging 0.99
R4909:Btbd8 UTSW 5 107,655,176 (GRCm39) nonsense probably null
R5105:Btbd8 UTSW 5 107,658,337 (GRCm39) missense possibly damaging 0.70
R5155:Btbd8 UTSW 5 107,638,569 (GRCm39) missense probably damaging 0.96
R5700:Btbd8 UTSW 5 107,651,514 (GRCm39) missense possibly damaging 0.65
R5857:Btbd8 UTSW 5 107,609,398 (GRCm39) missense probably damaging 1.00
R5908:Btbd8 UTSW 5 107,655,460 (GRCm39) missense probably damaging 0.96
R6089:Btbd8 UTSW 5 107,654,895 (GRCm39) missense probably damaging 0.99
R6339:Btbd8 UTSW 5 107,651,583 (GRCm39) missense probably benign 0.17
R6484:Btbd8 UTSW 5 107,651,451 (GRCm39) missense probably benign 0.00
R7282:Btbd8 UTSW 5 107,658,371 (GRCm39) missense probably damaging 0.99
R7282:Btbd8 UTSW 5 107,655,062 (GRCm39) missense probably benign
R7492:Btbd8 UTSW 5 107,658,373 (GRCm39) missense probably benign 0.01
R8087:Btbd8 UTSW 5 107,632,953 (GRCm39) missense probably damaging 1.00
R8694:Btbd8 UTSW 5 107,658,635 (GRCm39) missense probably benign 0.02
R8777:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8777-TAIL:Btbd8 UTSW 5 107,658,293 (GRCm39) missense probably damaging 0.99
R8788:Btbd8 UTSW 5 107,618,853 (GRCm39) makesense probably null
R9240:Btbd8 UTSW 5 107,600,034 (GRCm39) missense probably benign 0.17
R9584:Btbd8 UTSW 5 107,658,347 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- CCAATTTGGGCACGATGAAGGTTC -3'
(R):5'- CATGAAGCACGCTTTTCTCAGCTAC -3'

Sequencing Primer
(F):5'- GACTGTCAATACTAGATGTTTCCCTG -3'
(R):5'- CGCTGAGAAGCATGACTTTGC -3'
Posted On 2013-09-30