Incidental Mutation 'IGL01161:Abtb2'
ID53427
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abtb2
Ensembl Gene ENSMUSG00000032724
Gene Nameankyrin repeat and BTB (POZ) domain containing 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01161
Quality Score
Status
Chromosome2
Chromosomal Location103566310-103718423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103705118 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 543 (D543E)
Ref Sequence ENSEMBL: ENSMUSP00000075566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076212]
Predicted Effect probably benign
Transcript: ENSMUST00000076212
AA Change: D543E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: D543E

DomainStartEndE-ValueType
low complexity region 29 48 N/A INTRINSIC
low complexity region 122 143 N/A INTRINSIC
Blast:H2A 186 301 2e-38 BLAST
low complexity region 366 376 N/A INTRINSIC
ANK 521 550 4.78e-7 SMART
ANK 567 596 6.26e-2 SMART
ANK 606 635 3.65e-3 SMART
ANK 649 678 5.52e2 SMART
ANK 715 746 1.84e3 SMART
BTB 844 946 9.15e-24 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Bex3 T C X: 136,271,469 F60S probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Ecel1 T C 1: 87,153,193 D329G possibly damaging Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gml T G 15: 74,813,839 Y99S probably damaging Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Sdf4 T A 4: 156,009,306 M299K probably benign Het
Slc30a7 A G 3: 115,954,110 V344A possibly damaging Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Other mutations in Abtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02605:Abtb2 APN 2 103717257 missense probably benign
IGL03161:Abtb2 APN 2 103567454 missense probably benign 0.02
PIT4504001:Abtb2 UTSW 2 103717192 nonsense probably null
R0147:Abtb2 UTSW 2 103567135 missense probably benign 0.04
R1052:Abtb2 UTSW 2 103705072 missense possibly damaging 0.46
R1419:Abtb2 UTSW 2 103709420 missense probably benign 0.00
R1518:Abtb2 UTSW 2 103709284 missense probably benign 0.03
R1650:Abtb2 UTSW 2 103702402 missense probably damaging 1.00
R1795:Abtb2 UTSW 2 103567024 missense probably benign 0.00
R2054:Abtb2 UTSW 2 103705117 missense probably benign 0.41
R2101:Abtb2 UTSW 2 103566862 missense probably benign 0.05
R2363:Abtb2 UTSW 2 103567183 missense probably damaging 1.00
R3440:Abtb2 UTSW 2 103567232 missense probably benign 0.43
R3927:Abtb2 UTSW 2 103708218 splice site probably null
R4351:Abtb2 UTSW 2 103683393 missense possibly damaging 0.46
R4352:Abtb2 UTSW 2 103683393 missense possibly damaging 0.46
R4782:Abtb2 UTSW 2 103717299 missense probably benign 0.35
R4814:Abtb2 UTSW 2 103717287 missense probably benign 0.08
R4831:Abtb2 UTSW 2 103683475 missense probably benign 0.06
R4900:Abtb2 UTSW 2 103567004 missense possibly damaging 0.62
R5038:Abtb2 UTSW 2 103567063 missense probably damaging 0.99
R5513:Abtb2 UTSW 2 103709278 critical splice acceptor site probably null
R6119:Abtb2 UTSW 2 103702310 missense probably benign 0.00
R6298:Abtb2 UTSW 2 103709488 missense probably benign 0.10
R6383:Abtb2 UTSW 2 103567376 missense probably damaging 0.98
R6860:Abtb2 UTSW 2 103709425 nonsense probably null
R7000:Abtb2 UTSW 2 103712442 missense possibly damaging 0.85
R7109:Abtb2 UTSW 2 103715515 missense probably benign 0.20
R7176:Abtb2 UTSW 2 103709375 missense probably benign 0.00
R7189:Abtb2 UTSW 2 103567516 missense probably benign 0.00
R7199:Abtb2 UTSW 2 103567220 missense possibly damaging 0.74
R7299:Abtb2 UTSW 2 103702424 splice site probably null
R7347:Abtb2 UTSW 2 103567412 missense probably damaging 1.00
R7469:Abtb2 UTSW 2 103566947 missense probably benign 0.00
R7629:Abtb2 UTSW 2 103683493 critical splice donor site probably null
R7862:Abtb2 UTSW 2 103702281 missense probably damaging 1.00
R8200:Abtb2 UTSW 2 103700817 missense probably benign 0.02
R8682:Abtb2 UTSW 2 103567375 missense probably benign 0.36
R8700:Abtb2 UTSW 2 103566944 missense probably damaging 0.99
Z1176:Abtb2 UTSW 2 103708172 nonsense probably null
Z1177:Abtb2 UTSW 2 103711196 missense probably damaging 1.00
Posted On2013-06-28