Incidental Mutation 'IGL01593:Abtb3'
ID 91665
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abtb3
Ensembl Gene ENSMUSG00000020042
Gene Name ankyrin repeat and BTB domain containing 3
Synonyms Btbd11, 6330404E16Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.136) question?
Stock # IGL01593
Quality Score
Status
Chromosome 10
Chromosomal Location 85222678-85496156 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 85490339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000100944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105306] [ENSMUST00000105307]
AlphaFold Q6GQW0
Predicted Effect probably benign
Transcript: ENSMUST00000105306
SMART Domains Protein: ENSMUSP00000100943
Gene: ENSMUSG00000020042

DomainStartEndE-ValueType
ANK 139 168 2.74e-7 SMART
ANK 185 214 7.3e-3 SMART
ANK 223 252 1.05e-3 SMART
ANK 266 296 2.21e3 SMART
BTB 459 558 5.38e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105307
SMART Domains Protein: ENSMUSP00000100944
Gene: ENSMUSG00000020042

DomainStartEndE-ValueType
low complexity region 101 109 N/A INTRINSIC
low complexity region 174 194 N/A INTRINSIC
Blast:H2A 195 261 5e-37 BLAST
low complexity region 262 285 N/A INTRINSIC
low complexity region 292 344 N/A INTRINSIC
Blast:H2A 350 384 1e-15 BLAST
ANK 608 637 2.74e-7 SMART
ANK 654 683 7.3e-3 SMART
ANK 692 721 1.05e-3 SMART
ANK 735 765 2.21e3 SMART
BTB 928 1027 5.38e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156123
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 87,284,279 (GRCm39) I310N probably damaging Het
Ackr4 C T 9: 103,963,130 (GRCm39) probably benign Het
Ankib1 A T 5: 3,782,590 (GRCm39) D346E probably benign Het
Asap2 G T 12: 21,263,203 (GRCm39) A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 (GRCm39) R219L probably damaging Het
Atp6v1e2 A T 17: 87,251,727 (GRCm39) F224I probably damaging Het
Bnc2 T C 4: 84,194,478 (GRCm39) probably null Het
Cd33 A G 7: 43,179,705 (GRCm39) L241P possibly damaging Het
Clec4g A T 8: 3,769,474 (GRCm39) probably null Het
Dym C T 18: 75,247,852 (GRCm39) probably benign Het
Enpp5 A G 17: 44,391,612 (GRCm39) T14A probably benign Het
Ggt1 T C 10: 75,421,121 (GRCm39) probably null Het
Gm17541 T A 12: 4,739,868 (GRCm39) probably benign Het
Gpr39 A T 1: 125,605,188 (GRCm39) I39F probably benign Het
Kcnb1 G T 2: 166,948,127 (GRCm39) F240L probably damaging Het
Kcnt1 T A 2: 25,788,766 (GRCm39) V400E probably damaging Het
Klhdc7a A G 4: 139,694,125 (GRCm39) I274T probably damaging Het
Lrwd1 A T 5: 136,163,483 (GRCm39) L71Q probably damaging Het
Mycbp2 A T 14: 103,528,723 (GRCm39) probably null Het
Nckap1 A T 2: 80,350,914 (GRCm39) M725K probably benign Het
Odad2 T C 18: 7,127,345 (GRCm39) K956R probably benign Het
Or2b7 T A 13: 21,739,389 (GRCm39) I268F probably damaging Het
Pole2 C T 12: 69,269,873 (GRCm39) probably null Het
Prss32 A G 17: 24,074,982 (GRCm39) T111A probably benign Het
Rgs9 A G 11: 109,139,875 (GRCm39) probably benign Het
Slc2a4 A G 11: 69,835,654 (GRCm39) C361R probably damaging Het
Ston1 G A 17: 88,944,438 (GRCm39) G615R probably null Het
Tas2r139 T G 6: 42,117,891 (GRCm39) W8G probably benign Het
Tmem101 A T 11: 102,046,704 (GRCm39) L55Q probably damaging Het
Tnni3k T C 3: 154,646,666 (GRCm39) probably null Het
Uba2 A G 7: 33,845,689 (GRCm39) V478A probably damaging Het
Vps13a T C 19: 16,739,545 (GRCm39) D52G probably damaging Het
Other mutations in Abtb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00666:Abtb3 APN 10 85,465,080 (GRCm39) missense possibly damaging 0.87
IGL01143:Abtb3 APN 10 85,490,335 (GRCm39) splice site probably benign
IGL01365:Abtb3 APN 10 85,469,680 (GRCm39) missense possibly damaging 0.75
IGL01409:Abtb3 APN 10 85,494,029 (GRCm39) missense possibly damaging 0.88
IGL01531:Abtb3 APN 10 85,465,069 (GRCm39) splice site probably benign
IGL01751:Abtb3 APN 10 85,490,366 (GRCm39) missense probably damaging 1.00
IGL01752:Abtb3 APN 10 85,490,366 (GRCm39) missense probably damaging 1.00
IGL02041:Abtb3 APN 10 85,223,418 (GRCm39) missense unknown
IGL02486:Abtb3 APN 10 85,476,419 (GRCm39) missense probably damaging 1.00
IGL02597:Abtb3 APN 10 85,469,665 (GRCm39) missense probably damaging 1.00
IGL02957:Abtb3 APN 10 85,467,150 (GRCm39) splice site probably benign
IGL02957:Abtb3 APN 10 85,469,701 (GRCm39) missense probably damaging 1.00
IGL02967:Abtb3 APN 10 85,469,646 (GRCm39) missense probably benign 0.11
IGL02975:Abtb3 APN 10 85,467,207 (GRCm39) missense probably benign 0.16
IGL03078:Abtb3 APN 10 85,468,027 (GRCm39) missense probably damaging 1.00
IGL03130:Abtb3 APN 10 85,224,347 (GRCm39) splice site probably null
IGL03335:Abtb3 APN 10 85,494,222 (GRCm39) utr 3 prime probably benign
R0024:Abtb3 UTSW 10 85,223,311 (GRCm39) missense unknown
R0599:Abtb3 UTSW 10 85,494,200 (GRCm39) missense probably damaging 1.00
R0655:Abtb3 UTSW 10 85,481,390 (GRCm39) missense probably damaging 1.00
R0660:Abtb3 UTSW 10 85,224,234 (GRCm39) missense possibly damaging 0.65
R0664:Abtb3 UTSW 10 85,224,234 (GRCm39) missense possibly damaging 0.65
R1155:Abtb3 UTSW 10 85,465,155 (GRCm39) missense probably damaging 1.00
R1244:Abtb3 UTSW 10 85,223,227 (GRCm39) missense unknown
R1389:Abtb3 UTSW 10 85,476,460 (GRCm39) missense possibly damaging 0.76
R1418:Abtb3 UTSW 10 85,481,442 (GRCm39) missense probably damaging 1.00
R1703:Abtb3 UTSW 10 85,223,248 (GRCm39) missense unknown
R1957:Abtb3 UTSW 10 85,469,563 (GRCm39) missense probably damaging 1.00
R2519:Abtb3 UTSW 10 85,487,475 (GRCm39) missense probably damaging 1.00
R3716:Abtb3 UTSW 10 85,397,392 (GRCm39) missense probably damaging 1.00
R3915:Abtb3 UTSW 10 85,468,134 (GRCm39) missense probably damaging 1.00
R4738:Abtb3 UTSW 10 85,463,112 (GRCm39) nonsense probably null
R4782:Abtb3 UTSW 10 85,490,414 (GRCm39) missense probably damaging 1.00
R4846:Abtb3 UTSW 10 85,465,130 (GRCm39) missense probably damaging 1.00
R4887:Abtb3 UTSW 10 85,223,242 (GRCm39) missense unknown
R4960:Abtb3 UTSW 10 85,487,526 (GRCm39) missense probably benign 0.34
R5224:Abtb3 UTSW 10 85,481,386 (GRCm39) small deletion probably benign
R5341:Abtb3 UTSW 10 85,223,236 (GRCm39) missense unknown
R5713:Abtb3 UTSW 10 85,487,516 (GRCm39) missense probably damaging 1.00
R6046:Abtb3 UTSW 10 85,223,947 (GRCm39) missense unknown
R6461:Abtb3 UTSW 10 85,476,428 (GRCm39) missense probably damaging 1.00
R6809:Abtb3 UTSW 10 85,467,240 (GRCm39) missense probably benign 0.01
R7069:Abtb3 UTSW 10 85,223,520 (GRCm39) missense unknown
R7130:Abtb3 UTSW 10 85,223,419 (GRCm39) missense unknown
R7202:Abtb3 UTSW 10 85,223,629 (GRCm39) missense unknown
R7275:Abtb3 UTSW 10 85,490,346 (GRCm39) missense probably damaging 1.00
R7489:Abtb3 UTSW 10 85,463,079 (GRCm39) missense probably damaging 1.00
R7743:Abtb3 UTSW 10 85,460,813 (GRCm39) missense possibly damaging 0.95
R7873:Abtb3 UTSW 10 85,466,989 (GRCm39) missense possibly damaging 0.74
R8155:Abtb3 UTSW 10 85,476,473 (GRCm39) critical splice donor site probably null
R8306:Abtb3 UTSW 10 85,434,409 (GRCm39) nonsense probably null
R8812:Abtb3 UTSW 10 85,463,113 (GRCm39) missense probably damaging 0.99
R8891:Abtb3 UTSW 10 85,223,958 (GRCm39) missense unknown
R9068:Abtb3 UTSW 10 85,223,762 (GRCm39) missense unknown
R9800:Abtb3 UTSW 10 85,224,079 (GRCm39) missense unknown
X0020:Abtb3 UTSW 10 85,467,216 (GRCm39) missense possibly damaging 0.86
Z1088:Abtb3 UTSW 10 85,223,721 (GRCm39) missense probably benign 0.23
Posted On 2013-12-09