Incidental Mutation 'IGL02264:Abtb1'
ID286833
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abtb1
Ensembl Gene ENSMUSG00000030083
Gene Nameankyrin repeat and BTB (POZ) domain containing 1
SynonymsBPOZ, EF1ABP
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.216) question?
Stock #IGL02264
Quality Score
Status
Chromosome6
Chromosomal Location88835914-88841984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88836535 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 407 (V407A)
Ref Sequence ENSEMBL: ENSMUSP00000032169 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000203137] [ENSMUST00000203272] [ENSMUST00000203864] [ENSMUST00000204327] [ENSMUST00000204458] [ENSMUST00000204932] [ENSMUST00000205082]
Predicted Effect probably benign
Transcript: ENSMUST00000032169
AA Change: V407A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: V407A

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: ENSMUST00000203120
Predicted Effect probably benign
Transcript: ENSMUST00000203137
Predicted Effect probably benign
Transcript: ENSMUST00000203272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203514
Predicted Effect probably benign
Transcript: ENSMUST00000203864
Predicted Effect probably benign
Transcript: ENSMUST00000204327
Predicted Effect probably benign
Transcript: ENSMUST00000204458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204560
Predicted Effect probably benign
Transcript: ENSMUST00000204932
Predicted Effect probably benign
Transcript: ENSMUST00000205082
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik A G 2: 19,542,369 probably null Het
Abhd17b T C 19: 21,678,432 L26P probably damaging Het
Adamts17 C A 7: 67,047,459 probably null Het
Arhgap21 G T 2: 20,860,039 probably null Het
Brwd1 T C 16: 96,019,456 D1290G probably damaging Het
Btbd6 A G 12: 112,976,969 T49A probably damaging Het
Carmil1 C T 13: 24,075,716 V702I possibly damaging Het
Cts8 T A 13: 61,250,958 I245F probably damaging Het
D230025D16Rik C T 8: 105,234,546 A71V possibly damaging Het
Dclre1a T A 19: 56,544,293 N623I possibly damaging Het
Dnah9 A T 11: 66,080,488 probably benign Het
Emc1 T C 4: 139,375,464 F978S probably damaging Het
Fam185a G A 5: 21,480,394 V363I possibly damaging Het
Iglc2 G T 16: 19,198,647 S69R probably damaging Het
Ints5 T C 19: 8,895,712 V345A probably benign Het
Kif21b T A 1: 136,159,757 L937Q probably damaging Het
Lrba A G 3: 86,780,262 R2825G probably damaging Het
Map1a A G 2: 121,307,313 E2870G probably damaging Het
Olfr1233 G T 2: 89,339,684 T206K probably benign Het
Olfr1287 A G 2: 111,449,862 T241A probably benign Het
Olfr259 C T 2: 87,107,441 probably benign Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcsk1 C A 13: 75,105,959 T210K probably damaging Het
Slco5a1 A G 1: 12,871,995 V809A probably benign Het
Synm T C 7: 67,734,396 T1173A probably damaging Het
Tbc1d9b T C 11: 50,149,757 I367T probably damaging Het
Tmem169 T A 1: 72,300,955 Y181* probably null Het
Trp73 G T 4: 154,064,428 F289L probably null Het
Ttll9 A G 2: 153,000,135 Y303C probably damaging Het
Ubr4 G T 4: 139,455,628 E3577* probably null Het
Zbtb3 T G 19: 8,803,365 V114G probably damaging Het
Other mutations in Abtb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01487:Abtb1 APN 6 88839449 missense probably damaging 0.98
IGL02376:Abtb1 APN 6 88838484 splice site probably benign
IGL02702:Abtb1 APN 6 88838138 missense probably benign
IGL03132:Abtb1 APN 6 88838959 missense probably benign 0.01
IGL03266:Abtb1 APN 6 88838934 missense probably damaging 0.97
PIT4243001:Abtb1 UTSW 6 88838726 missense probably benign 0.16
PIT4418001:Abtb1 UTSW 6 88839648 missense possibly damaging 0.78
R0331:Abtb1 UTSW 6 88840702 unclassified probably benign
R0763:Abtb1 UTSW 6 88838279 missense probably damaging 0.96
R1565:Abtb1 UTSW 6 88836554 missense probably benign 0.03
R1796:Abtb1 UTSW 6 88836619 missense possibly damaging 0.68
R1822:Abtb1 UTSW 6 88836554 missense probably benign 0.03
R1824:Abtb1 UTSW 6 88836554 missense probably benign 0.03
R2225:Abtb1 UTSW 6 88836367 missense probably damaging 1.00
R2227:Abtb1 UTSW 6 88836367 missense probably damaging 1.00
R2399:Abtb1 UTSW 6 88838738 missense possibly damaging 0.89
R4394:Abtb1 UTSW 6 88836584 missense probably damaging 0.96
R4625:Abtb1 UTSW 6 88836287 missense probably benign 0.00
R5312:Abtb1 UTSW 6 88838258 missense probably damaging 1.00
R5552:Abtb1 UTSW 6 88836548 missense probably benign 0.04
R6035:Abtb1 UTSW 6 88841806 missense probably damaging 1.00
R6035:Abtb1 UTSW 6 88841806 missense probably damaging 1.00
R6092:Abtb1 UTSW 6 88838451 missense probably benign
R6195:Abtb1 UTSW 6 88840736 missense probably benign 0.04
R7257:Abtb1 UTSW 6 88839452 missense probably benign 0.01
Posted On2015-04-16