Incidental Mutation 'IGL02605:Abtb2'
ID300223
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 #IGL02605
Quality Score
Status
Chromosome2
Chromosomal Location103566310-103718423 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103717257 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 992 (Y992F)
Ref Sequence ENSEMBL: ENSMUSP00000075566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028608] [ENSMUST00000076212]
Predicted Effect probably benign
Transcript: ENSMUST00000028608
SMART Domains Protein: ENSMUSP00000028608
Gene: ENSMUSG00000027185

DomainStartEndE-ValueType
Pfam:DUF1726 107 201 6.9e-39 PFAM
low complexity region 226 242 N/A INTRINSIC
Pfam:Helicase_RecD 281 488 1.3e-68 PFAM
Pfam:GNAT_acetyltr_2 528 753 7e-103 PFAM
Pfam:tRNA_bind_2 771 892 3.6e-46 PFAM
low complexity region 999 1024 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076212
AA Change: Y992F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: Y992F

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131122
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143017
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144590
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 T A 10: 14,467,232 N324Y probably damaging Het
Ampd3 T C 7: 110,795,758 F305L probably benign Het
Ankrd35 A G 3: 96,681,072 probably null Het
Api5 A G 2: 94,429,719 I64T possibly damaging Het
Arhgap21 A G 2: 20,855,588 I1165T probably damaging Het
Bdp1 T C 13: 100,078,115 probably null Het
Capn3 T A 2: 120,496,037 I570N probably damaging Het
Catsperg2 T C 7: 29,719,565 H232R possibly damaging Het
Clcn7 T C 17: 25,146,818 L156P possibly damaging Het
Cpa3 C A 3: 20,222,212 V286F probably benign Het
Csrnp3 G A 2: 66,022,809 C527Y probably damaging Het
Dock5 A T 14: 67,828,438 V372E probably benign Het
Elmo1 T C 13: 20,605,202 L696P probably damaging Het
Fam91a1 T C 15: 58,431,196 probably benign Het
Gm12695 T A 4: 96,762,751 D155V probably null Het
Hspa4l A G 3: 40,781,623 I559V probably benign Het
Kdm1a G T 4: 136,551,037 probably benign Het
Lrrc8d A T 5: 105,826,817 noncoding transcript Het
Minpp1 A T 19: 32,498,415 Y316F possibly damaging Het
Neto2 T C 8: 85,663,435 probably benign Het
Nrxn2 T A 19: 6,450,580 D277E probably benign Het
Ola1 A G 2: 73,142,300 probably benign Het
Olfr1298 A G 2: 111,645,505 V164A probably benign Het
Olfr550 T C 7: 102,579,395 I300T probably damaging Het
Olfr893 T A 9: 38,209,236 M61K probably damaging Het
Pam A G 1: 97,840,339 V722A possibly damaging Het
Pfdn6 T C 17: 33,939,103 Y90C probably benign Het
Pkhd1 T A 1: 20,550,902 H844L possibly damaging Het
Plk5 G A 10: 80,363,062 V422M probably damaging Het
Psmc1 G T 12: 100,119,127 R249L probably damaging Het
Ptpro C T 6: 137,380,318 P269L probably benign Het
Ralgapa1 G T 12: 55,712,665 H1480Q possibly damaging Het
Rars G A 11: 35,824,526 probably benign Het
Rbm48 G A 5: 3,590,600 R260C possibly damaging Het
Smarcc1 C T 9: 110,222,000 H963Y possibly damaging Het
Spef2 T C 15: 9,725,152 E230G probably damaging Het
Spg11 A G 2: 122,092,260 S903P probably benign Het
Tas2r122 T C 6: 132,711,609 Y107C probably damaging Het
Tpm3 C A 3: 90,088,446 N204K probably benign Het
Wdr36 T C 18: 32,851,991 I450T possibly damaging Het
Other mutations in Abtb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Abtb2 APN 2 103705118 missense probably benign 0.00
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
R7945:Abtb2 UTSW 2 103702281 missense probably damaging 1.00
Z1176:Abtb2 UTSW 2 103708172 nonsense probably null
Z1177:Abtb2 UTSW 2 103711196 missense probably damaging 1.00
Posted On2015-04-16