Incidental Mutation 'IGL03405:Btbd3'
ID421555
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: 0.587) question?
Stock #IGL03405
Quality Score
Status
Chromosome2
Chromosomal Location138256565-138589292 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 138279761 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 121 (M121I)
Ref Sequence ENSEMBL: ENSMUSP00000074864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075410] [ENSMUST00000091556]
Predicted Effect probably damaging
Transcript: ENSMUST00000075410
AA Change: M121I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: M121I

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 possibly damaging
Transcript: ENSMUST00000091556
AA Change: M52I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: M52I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 120,016,403 V101A probably benign Het
Caprin1 G A 2: 103,779,505 R143C probably damaging Het
Cfap206 A G 4: 34,716,445 I340T possibly damaging Het
Chmp6 A G 11: 119,915,447 Y33C probably damaging Het
Clstn3 T C 6: 124,438,368 D679G possibly damaging Het
Col24a1 G A 3: 145,315,157 A430T possibly damaging Het
Commd6 A T 14: 101,637,072 V28E probably damaging Het
Eno2 T A 6: 124,763,885 Y236F probably benign Het
Erbb4 T C 1: 68,330,238 S415G probably benign Het
Evpl A G 11: 116,227,927 I648T possibly damaging Het
Fat1 T A 8: 45,025,241 D2441E probably damaging Het
Fat4 T C 3: 38,958,450 V2298A probably benign Het
Fbxl8 C A 8: 105,268,120 T88K probably benign Het
Ganc A G 2: 120,433,766 H400R probably damaging Het
Helb G A 10: 120,089,796 T892I probably damaging Het
Jaml A T 9: 45,093,809 K124N possibly damaging Het
Llgl2 G T 11: 115,850,842 E599D probably benign Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nr2e1 G A 10: 42,568,381 A244V probably damaging Het
Obscn T C 11: 59,000,124 K7194R unknown Het
Olfr1031 A G 2: 85,991,886 Q23R possibly damaging Het
Olfr1394 A G 11: 49,160,886 probably null Het
Rasgrf2 A T 13: 91,896,051 I961N probably damaging Het
Retreg3 T C 11: 101,100,969 D46G probably damaging Het
Rtp2 A C 16: 23,927,576 S122A probably benign Het
Sbf2 T A 7: 110,462,932 D146V probably damaging Het
Slc39a13 A G 2: 91,063,103 V324A probably damaging Het
Sptan1 A G 2: 30,025,581 T2013A probably damaging Het
Tnni3k A G 3: 154,792,767 probably benign Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Trpm2 G A 10: 77,966,072 probably benign Het
Ttn A G 2: 76,708,932 L34570P possibly damaging Het
Vmn2r100 T C 17: 19,531,924 V806A probably damaging Het
Wdr70 A G 15: 8,035,871 S237P possibly damaging Het
Wnk1 T C 6: 119,953,895 N896S probably benign Het
Zan T A 5: 137,424,597 D2718V unknown 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
IGL03108:Btbd3 APN 2 138284123 missense possibly damaging 0.55
IGL03232:Btbd3 APN 2 138284143 missense probably damaging 1.00
IGL03259:Btbd3 APN 2 138279760 missense probably damaging 1.00
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
Posted On2016-08-02