Incidental Mutation 'IGL02376:Abtb1'
ID 291142
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abtb1
Ensembl Gene ENSMUSG00000030083
Gene Name ankyrin repeat and BTB domain containing 1
Synonyms EF1ABP, BPOZ
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.326) question?
Stock # IGL02376
Quality Score
Status
Chromosome 6
Chromosomal Location 88812896-88818966 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 88815466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144915 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000145944] [ENSMUST00000203137] [ENSMUST00000204327] [ENSMUST00000204458] [ENSMUST00000203272] [ENSMUST00000205082] [ENSMUST00000203864] [ENSMUST00000204932]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032169
SMART Domains Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083

DomainStartEndE-ValueType
ANK 1 31 5.03e2 SMART
ANK 35 64 2.81e-4 SMART
BTB 115 212 7.8e-18 SMART
BTB 272 376 4.24e-19 SMART
low complexity region 412 433 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000038409
SMART Domains Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 132 152 N/A INTRINSIC
Pfam:CD34_antigen 328 539 9e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000061262
SMART Domains Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
coiled coil region 88 125 N/A INTRINSIC
low complexity region 132 152 N/A INTRINSIC
Pfam:CD34_antigen 328 539 5.4e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141401
Predicted Effect probably benign
Transcript: ENSMUST00000145944
SMART Domains Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
coiled coil region 152 189 N/A INTRINSIC
low complexity region 196 216 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147542
Predicted Effect probably benign
Transcript: ENSMUST00000203120
Predicted Effect probably benign
Transcript: ENSMUST00000203137
Predicted Effect probably benign
Transcript: ENSMUST00000204327
Predicted Effect probably benign
Transcript: ENSMUST00000204458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204560
Predicted Effect probably benign
Transcript: ENSMUST00000203272
Predicted Effect probably benign
Transcript: ENSMUST00000205082
Predicted Effect probably benign
Transcript: ENSMUST00000203864
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203460
Predicted Effect probably benign
Transcript: ENSMUST00000204932
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 G A 12: 4,251,031 (GRCm39) E597K possibly damaging Het
Adcy9 A G 16: 4,236,544 (GRCm39) V289A probably benign Het
Akr1d1 A T 6: 37,507,220 (GRCm39) D14V probably damaging Het
Ankrd12 T C 17: 66,349,524 (GRCm39) probably benign Het
Arap3 T C 18: 38,111,506 (GRCm39) T1137A possibly damaging Het
Arhgef4 A T 1: 34,845,140 (GRCm39) Q77L probably damaging Het
Arhgef7 A G 8: 11,867,735 (GRCm39) T444A probably damaging Het
Arr3 A C X: 99,658,281 (GRCm39) K281Q probably damaging Het
Arrdc2 A T 8: 71,291,623 (GRCm39) I114N probably benign Het
Atg2b A T 12: 105,611,727 (GRCm39) F1217Y probably damaging Het
C1qtnf1 A C 11: 118,338,894 (GRCm39) Y188S probably benign Het
Cbx6 C A 15: 79,712,500 (GRCm39) R309L probably benign Het
Cfap410 A G 10: 77,820,388 (GRCm39) probably benign Het
Chrna9 T C 5: 66,128,502 (GRCm39) S237P probably damaging Het
Dapk1 G A 13: 60,844,208 (GRCm39) V76I probably benign Het
Elk4 T A 1: 131,942,288 (GRCm39) N53K probably benign Het
Epha7 A C 4: 28,951,287 (GRCm39) T799P probably damaging Het
Exosc2 G A 2: 31,569,887 (GRCm39) V233M possibly damaging Het
Fam217b A G 2: 178,059,366 (GRCm39) D3G probably benign Het
Farp1 T A 14: 121,510,268 (GRCm39) N755K probably damaging Het
Fer A G 17: 64,241,341 (GRCm39) E327G possibly damaging Het
Fmnl3 A T 15: 99,216,844 (GRCm39) F1017Y possibly damaging Het
Gabbr2 A C 4: 46,684,300 (GRCm39) I658S probably damaging Het
Gemin2 A G 12: 59,068,506 (GRCm39) D195G probably benign Het
Gtf3c1 T A 7: 125,268,168 (GRCm39) Y875F probably benign Het
Hnrnpr G A 4: 136,046,766 (GRCm39) G149D probably damaging Het
Krt74 A C 15: 101,662,938 (GRCm39) noncoding transcript Het
Ltf A G 9: 110,858,692 (GRCm39) D480G probably benign Het
Map1b A G 13: 99,572,103 (GRCm39) L206P probably damaging Het
Meis1 T C 11: 18,831,752 (GRCm39) M429V probably benign Het
Myh4 C A 11: 67,136,554 (GRCm39) T444N probably benign Het
Nckap1l A T 15: 103,379,658 (GRCm39) Y315F possibly damaging Het
Ndst3 A G 3: 123,350,447 (GRCm39) I646T probably damaging Het
Ndufv1 T C 19: 4,057,823 (GRCm39) probably null Het
Ogdhl T C 14: 32,065,275 (GRCm39) Y710H probably damaging Het
Or4c52 A G 2: 89,845,804 (GRCm39) I177V probably benign Het
Otud7b A G 3: 96,062,354 (GRCm39) K531R possibly damaging Het
Pax3 T C 1: 78,108,929 (GRCm39) Y243C probably damaging Het
Pde1a A G 2: 79,705,567 (GRCm39) probably benign Het
Pik3cb C T 9: 98,934,405 (GRCm39) M813I probably benign Het
Prss42 A T 9: 110,632,175 (GRCm39) D302V possibly damaging Het
Rad52 T C 6: 119,892,191 (GRCm39) probably benign Het
Reln A T 5: 22,285,789 (GRCm39) Y393* probably null Het
Rhbdd3 T C 11: 5,053,192 (GRCm39) probably benign Het
Sbf2 C T 7: 110,062,163 (GRCm39) G138D probably damaging Het
Slco1a1 A T 6: 141,870,060 (GRCm39) probably null Het
Smg9 A G 7: 24,114,455 (GRCm39) I265V probably benign Het
Sppl2b G T 10: 80,703,432 (GRCm39) E565* probably null Het
Stx6 T A 1: 155,077,725 (GRCm39) V244D probably benign Het
Tle4 T C 19: 14,571,768 (GRCm39) N78D probably damaging Het
Tmcc3 A G 10: 94,414,429 (GRCm39) I44V possibly damaging Het
Tnnt3 C T 7: 142,066,295 (GRCm39) T220I possibly damaging Het
Ttn A T 2: 76,557,811 (GRCm39) D29798E possibly damaging Het
Vtcn1 A T 3: 100,799,981 (GRCm39) M281L probably benign Het
Zfp595 T C 13: 67,464,514 (GRCm39) K586R possibly damaging Het
Zfta C T 19: 7,399,741 (GRCm39) P496L probably damaging Het
Other mutations in Abtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Abtb1 APN 6 88,816,431 (GRCm39) missense probably damaging 0.98
IGL02264:Abtb1 APN 6 88,813,517 (GRCm39) missense probably benign 0.00
IGL02702:Abtb1 APN 6 88,815,120 (GRCm39) missense probably benign
IGL03132:Abtb1 APN 6 88,815,941 (GRCm39) missense probably benign 0.01
IGL03266:Abtb1 APN 6 88,815,916 (GRCm39) missense probably damaging 0.97
PIT4243001:Abtb1 UTSW 6 88,815,708 (GRCm39) missense probably benign 0.16
PIT4418001:Abtb1 UTSW 6 88,816,630 (GRCm39) missense possibly damaging 0.78
R0331:Abtb1 UTSW 6 88,817,684 (GRCm39) unclassified probably benign
R0763:Abtb1 UTSW 6 88,815,261 (GRCm39) missense probably damaging 0.96
R1565:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R1796:Abtb1 UTSW 6 88,813,601 (GRCm39) missense possibly damaging 0.68
R1822:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R1824:Abtb1 UTSW 6 88,813,536 (GRCm39) missense probably benign 0.03
R2225:Abtb1 UTSW 6 88,813,349 (GRCm39) missense probably damaging 1.00
R2227:Abtb1 UTSW 6 88,813,349 (GRCm39) missense probably damaging 1.00
R2399:Abtb1 UTSW 6 88,815,720 (GRCm39) missense possibly damaging 0.89
R4394:Abtb1 UTSW 6 88,813,566 (GRCm39) missense probably damaging 0.96
R4625:Abtb1 UTSW 6 88,813,269 (GRCm39) missense probably benign 0.00
R5312:Abtb1 UTSW 6 88,815,240 (GRCm39) missense probably damaging 1.00
R5552:Abtb1 UTSW 6 88,813,530 (GRCm39) missense probably benign 0.04
R6035:Abtb1 UTSW 6 88,818,788 (GRCm39) missense probably damaging 1.00
R6035:Abtb1 UTSW 6 88,818,788 (GRCm39) missense probably damaging 1.00
R6092:Abtb1 UTSW 6 88,815,433 (GRCm39) missense probably benign
R6195:Abtb1 UTSW 6 88,817,718 (GRCm39) missense probably benign 0.04
R7257:Abtb1 UTSW 6 88,816,434 (GRCm39) missense probably benign 0.01
R9547:Abtb1 UTSW 6 88,815,917 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16