Incidental Mutation 'IGL01757:Tfap2d'
ID 153202
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfap2d
Ensembl Gene ENSMUSG00000042596
Gene Name transcription factor AP-2, delta
Synonyms Tcfap2d
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01757
Quality Score
Status
Chromosome 1
Chromosomal Location 19103022-19166346 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19104580 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 86 (T86A)
Ref Sequence ENSEMBL: ENSMUSP00000037699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037294]
AlphaFold Q91ZK0
Predicted Effect probably benign
Transcript: ENSMUST00000037294
AA Change: T86A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: T86A

DomainStartEndE-ValueType
low complexity region 41 53 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
low complexity region 162 181 N/A INTRINSIC
Pfam:TF_AP-2 209 409 3.3e-91 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159108
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit loss of inferior colliculus due to apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,990,281 probably benign Het
Adamts9 T C 6: 92,796,159 Y1789C probably damaging Het
Cdcp1 A T 9: 123,180,001 Y537* probably null Het
Chic2 T C 5: 75,006,767 probably benign Het
Cpa5 G A 6: 30,625,927 probably benign Het
Csgalnact2 T C 6: 118,129,346 R4G probably damaging Het
Dnah10 T A 5: 124,768,927 V1510D probably benign Het
Dnm2 T A 9: 21,465,619 F91L probably damaging Het
Eif2b1 T C 5: 124,573,140 K189E probably benign Het
Fgf17 A T 14: 70,636,980 L123Q probably damaging Het
Ifna15 T C 4: 88,558,085 K54R possibly damaging Het
Isg15 A G 4: 156,199,844 C76R probably damaging Het
Ldb2 A T 5: 44,541,867 probably benign Het
Lig4 A G 8: 9,971,185 I865T probably benign Het
Lrrc46 T C 11: 97,035,875 Y154C probably damaging Het
Lrrc8a G A 2: 30,255,525 R117H possibly damaging Het
Mrpl2 A G 17: 46,648,257 I96V probably damaging Het
Mtif2 G A 11: 29,541,337 probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Ptpn23 G A 9: 110,391,636 R269W probably damaging Het
Senp2 T C 16: 22,009,664 V8A probably benign Het
Slf1 T C 13: 77,084,440 D515G probably benign Het
Spc25 G A 2: 69,202,608 Q58* probably null Het
Sult2a5 T C 7: 13,665,154 S229P probably damaging Het
Trp53bp1 A G 2: 121,211,304 V1257A probably damaging Het
Wdr6 A G 9: 108,576,228 V152A possibly damaging Het
Zdhhc7 A G 8: 120,087,923 V49A probably benign Het
Zfp648 T C 1: 154,204,925 S277P probably damaging Het
Other mutations in Tfap2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00484:Tfap2d APN 1 19142881 missense probably benign 0.44
IGL00837:Tfap2d APN 1 19119206 missense probably damaging 1.00
IGL01370:Tfap2d APN 1 19104785 missense probably damaging 0.96
IGL01470:Tfap2d APN 1 19148396 missense probably damaging 0.98
IGL01986:Tfap2d APN 1 19119159 splice site probably benign
IGL02613:Tfap2d APN 1 19119191 missense probably damaging 1.00
IGL02666:Tfap2d APN 1 19104755 missense probably benign 0.13
IGL02812:Tfap2d APN 1 19142927 missense possibly damaging 0.84
IGL02900:Tfap2d APN 1 19119250 missense probably damaging 1.00
IGL03184:Tfap2d APN 1 19118886 missense probably damaging 1.00
R0389:Tfap2d UTSW 1 19104367 missense possibly damaging 0.94
R0443:Tfap2d UTSW 1 19104367 missense possibly damaging 0.94
R3962:Tfap2d UTSW 1 19118965 missense probably damaging 1.00
R3977:Tfap2d UTSW 1 19104494 missense possibly damaging 0.76
R3980:Tfap2d UTSW 1 19165963 missense possibly damaging 0.69
R4721:Tfap2d UTSW 1 19104760 missense possibly damaging 0.46
R6281:Tfap2d UTSW 1 19104478 missense probably benign 0.12
R6283:Tfap2d UTSW 1 19104478 missense probably benign 0.12
R6492:Tfap2d UTSW 1 19104478 missense probably benign 0.12
R6493:Tfap2d UTSW 1 19104478 missense probably benign 0.12
R6751:Tfap2d UTSW 1 19103283 missense possibly damaging 0.72
R7288:Tfap2d UTSW 1 19118983 missense probably damaging 1.00
R7400:Tfap2d UTSW 1 19142926 missense possibly damaging 0.70
R8156:Tfap2d UTSW 1 19103262 missense probably benign
R8551:Tfap2d UTSW 1 19104800 missense probably benign 0.08
R8686:Tfap2d UTSW 1 19108284 missense probably benign 0.06
R8838:Tfap2d UTSW 1 19104812 missense possibly damaging 0.83
Posted On 2014-02-04