Incidental Mutation 'IGL03108:Btbd3'
ID419083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btbd3
Ensembl Gene ENSMUSG00000062098
Gene NameBTB (POZ) domain containing 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.502) question?
Stock #IGL03108
Quality Score
Status
Chromosome2
Chromosomal Location138256565-138589292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138284123 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 409 (V409A)
Ref Sequence ENSEMBL: ENSMUSP00000074864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075410] [ENSMUST00000091556]
Predicted Effect possibly damaging
Transcript: ENSMUST00000075410
AA Change: V409A

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: V409A

DomainStartEndE-ValueType
low complexity region 26 51 N/A INTRINSIC
low complexity region 63 69 N/A INTRINSIC
low complexity region 89 101 N/A INTRINSIC
BTB 128 228 5.55e-23 SMART
BACK 234 343 1.11e-12 SMART
Pfam:PHR 384 529 4.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091556
AA Change: V340A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: V340A

DomainStartEndE-ValueType
low complexity region 20 32 N/A INTRINSIC
BTB 59 159 5.55e-23 SMART
BACK 165 274 1.11e-12 SMART
Pfam:PHR 315 461 8.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155646
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik G A 19: 45,820,353 T633I probably damaging Het
Adgrv1 C A 13: 81,559,529 V1253F probably damaging Het
Apbb2 A G 5: 66,400,231 W296R probably damaging Het
C130050O18Rik A T 5: 139,415,065 D291V probably damaging Het
Catsper3 A G 13: 55,808,035 N318D probably benign Het
Chd1 T A 17: 15,725,281 D22E possibly damaging Het
Chrnb2 G A 3: 89,763,374 probably benign Het
Col24a1 G A 3: 145,323,401 G550D probably damaging Het
Cryl1 T C 14: 57,313,077 D110G probably damaging Het
Deaf1 A G 7: 141,322,961 I150T probably damaging Het
Eif3a A T 19: 60,782,309 D33E possibly damaging Het
Fabp12 C A 3: 10,250,054 G78C probably benign Het
Fat1 A G 8: 45,023,614 D1899G probably damaging Het
Galnt13 G A 2: 54,854,648 V120I probably benign Het
Ganab G A 19: 8,912,476 A635T probably damaging Het
Gm17509 G A 13: 117,220,844 probably benign Het
Gstm3 A T 3: 107,967,764 probably null Het
Hfm1 T A 5: 106,895,934 probably benign Het
Hoxd13 A C 2: 74,670,096 D327A probably damaging Het
Ints4 G T 7: 97,490,930 probably null Het
Kcna10 A T 3: 107,194,943 T297S probably benign Het
Ldb2 G A 5: 44,541,715 T127I probably damaging Het
Mapk7 T C 11: 61,491,672 D68G probably damaging Het
Msh3 A T 13: 92,221,088 probably benign Het
Muc6 A G 7: 141,637,489 S2359P possibly damaging Het
Mup6 A T 4: 60,005,990 I161F possibly damaging Het
Nup160 G A 2: 90,703,825 V665I probably benign Het
Olfr1507 T A 14: 52,490,076 D296V probably damaging Het
Olfr304 T C 7: 86,385,721 Y313C possibly damaging Het
Olfr535 A G 7: 140,493,121 N161S possibly damaging Het
Otog G A 7: 46,251,338 V352I probably damaging Het
Oxct1 T A 15: 4,035,282 V34D probably benign Het
Pcdhb21 T A 18: 37,515,891 probably null Het
Pcdhb8 T G 18: 37,357,246 V659G probably damaging Het
Plxnb2 T C 15: 89,158,031 N1590S probably benign Het
Rnf168 G T 16: 32,278,281 R56L possibly damaging Het
Scn8a C T 15: 100,974,615 P362S probably benign Het
Slc1a3 T A 15: 8,639,078 I468F probably damaging Het
Slc39a14 G A 14: 70,318,919 R3W probably damaging Het
Slc7a6 T A 8: 106,194,517 N373K probably damaging Het
Snrnp200 T C 2: 127,238,167 S1955P possibly damaging Het
Stat5a T A 11: 100,863,139 Y98* probably null Het
Thsd7b G T 1: 130,210,276 G1564C probably damaging Het
Zc3h13 T C 14: 75,331,766 V1351A possibly damaging Het
Other mutations in Btbd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01519:Btbd3 APN 2 138279777 missense probably benign 0.05
IGL01650:Btbd3 APN 2 138284105 missense probably damaging 1.00
IGL01783:Btbd3 APN 2 138283736 missense probably damaging 1.00
IGL03232:Btbd3 APN 2 138284143 missense probably damaging 1.00
IGL03259:Btbd3 APN 2 138279760 missense probably damaging 1.00
IGL03405:Btbd3 APN 2 138279761 missense probably damaging 0.98
R0540:Btbd3 UTSW 2 138283816 missense possibly damaging 0.90
R0607:Btbd3 UTSW 2 138283816 missense possibly damaging 0.90
R1171:Btbd3 UTSW 2 138283961 missense probably benign 0.03
R1983:Btbd3 UTSW 2 138283688 missense probably damaging 0.99
R2034:Btbd3 UTSW 2 138278983 missense probably benign 0.15
R5111:Btbd3 UTSW 2 138278909 start codon destroyed probably null 0.53
R6170:Btbd3 UTSW 2 138278942 missense probably damaging 1.00
R6663:Btbd3 UTSW 2 138279083 missense probably benign 0.00
R6708:Btbd3 UTSW 2 138283571 missense possibly damaging 0.62
R7210:Btbd3 UTSW 2 138283744 missense probably damaging 1.00
Z1189:Btbd3 UTSW 2 138284090 small deletion probably benign
Z1192:Btbd3 UTSW 2 138284090 small deletion probably benign
Posted On2016-08-02