Incidental Mutation 'IGL03132:Abtb1'
ID 410381
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 # IGL03132
Quality Score
Status
Chromosome 6
Chromosomal Location 88812896-88818966 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88815941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 177 (R177C)
Ref Sequence ENSEMBL: ENSMUSP00000032169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000145944] [ENSMUST00000205082] [ENSMUST00000204327] [ENSMUST00000204458] [ENSMUST00000203864] [ENSMUST00000203137] [ENSMUST00000204932] [ENSMUST00000203272]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032169
AA Change: R177C

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: R177C

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: ENSMUST00000124562
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 unknown
Transcript: ENSMUST00000205082
AA Change: P38L
Predicted Effect unknown
Transcript: ENSMUST00000204327
AA Change: P13L
Predicted Effect probably benign
Transcript: ENSMUST00000204458
Predicted Effect probably benign
Transcript: ENSMUST00000203864
Predicted Effect probably benign
Transcript: ENSMUST00000203137
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203514
Predicted Effect probably benign
Transcript: ENSMUST00000204932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204560
Predicted Effect probably benign
Transcript: ENSMUST00000203272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203460
Predicted Effect probably benign
Transcript: ENSMUST00000203120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147542
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 C A 12: 81,607,148 (GRCm39) G205* probably null Het
Baz2b T A 2: 59,738,097 (GRCm39) probably benign Het
Col6a3 C T 1: 90,731,615 (GRCm39) G939D probably damaging Het
Csf1r A G 18: 61,261,171 (GRCm39) E749G probably benign Het
Dnm3 C T 1: 161,838,674 (GRCm39) probably null Het
Dsg3 A G 18: 20,657,653 (GRCm39) D241G probably damaging Het
Dst T C 1: 34,295,722 (GRCm39) S6015P probably benign Het
Dvl2 T C 11: 69,896,514 (GRCm39) S183P probably benign Het
Exoc6b T C 6: 84,768,246 (GRCm39) N699S possibly damaging Het
Fat2 T C 11: 55,144,746 (GRCm39) R4043G probably benign Het
Gbp9 T A 5: 105,232,819 (GRCm39) T278S possibly damaging Het
Gm2a T A 11: 54,994,474 (GRCm39) I48N probably damaging Het
Gorasp2 T C 2: 70,514,379 (GRCm39) V232A probably benign Het
Gpa33 G A 1: 165,980,218 (GRCm39) D94N probably benign Het
Il1rap A T 16: 26,498,869 (GRCm39) S123C probably damaging Het
Kctd17 T C 15: 78,319,887 (GRCm39) S102P probably damaging Het
Lamb1 A G 12: 31,350,333 (GRCm39) probably null Het
Mfsd1 T A 3: 67,495,273 (GRCm39) I131K possibly damaging Het
Pkhd1l1 G A 15: 44,438,013 (GRCm39) C3576Y probably damaging Het
Pla2g4a A T 1: 149,778,035 (GRCm39) probably benign Het
Ptpn11 T A 5: 121,272,878 (GRCm39) D575V possibly damaging Het
Reck A T 4: 43,938,898 (GRCm39) R755* probably null Het
Scgb2b21 A G 7: 33,219,299 (GRCm39) V35A possibly damaging Het
Srpra G A 9: 35,125,574 (GRCm39) probably null Het
Stk11ip T C 1: 75,512,733 (GRCm39) S1025P probably benign Het
Tmprss9 G A 10: 80,730,699 (GRCm39) V742M probably damaging Het
Trh T C 6: 92,220,755 (GRCm39) T36A probably benign Het
Trim35 A G 14: 66,546,595 (GRCm39) E454G probably damaging Het
Vmn2r99 C T 17: 19,598,485 (GRCm39) Q170* probably null 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
IGL02376:Abtb1 APN 6 88,815,466 (GRCm39) splice site probably benign
IGL02702:Abtb1 APN 6 88,815,120 (GRCm39) missense probably benign
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 2016-08-02