Incidental Mutation 'IGL03184:Tfap2d'
ID412394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfap2d
Ensembl Gene ENSMUSG00000042596
Gene Nametranscription factor AP-2, delta
SynonymsTcfap2d
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03184
Quality Score
Status
Chromosome1
Chromosomal Location19103022-19166346 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 19118886 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 219 (S219P)
Ref Sequence ENSEMBL: ENSMUSP00000037699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037294]
Predicted Effect probably damaging
Transcript: ENSMUST00000037294
AA Change: S219P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037699
Gene: ENSMUSG00000042596
AA Change: S219P

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
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,323,451 Y992H possibly damaging Het
Adcy7 T A 8: 88,308,643 D58E probably benign Het
Aff2 G A X: 69,767,234 V404M possibly damaging Het
Ankhd1 T A 18: 36,647,777 L1961M probably damaging Het
BC024978 A G 7: 27,197,007 probably benign Het
Brms1l T C 12: 55,868,277 *324Q probably null Het
Bub1b T C 2: 118,609,777 probably benign Het
Cacna1b A G 2: 24,658,489 probably null Het
Clrn1 T A 3: 58,846,224 T239S probably benign Het
Clta T C 4: 44,025,514 Y145H probably benign Het
Coro6 T C 11: 77,463,953 V14A probably damaging Het
Cyp4a30b A G 4: 115,459,019 D314G probably damaging Het
Fn1 T C 1: 71,609,497 N1418D probably benign Het
Fshr A C 17: 89,046,640 L97V possibly damaging Het
Gcm2 T C 13: 41,105,412 Q152R probably damaging Het
Gcnt2 A G 13: 40,888,184 N273S probably benign Het
Gm11437 A T 11: 84,156,264 probably benign Het
Gm4559 A G 7: 142,274,309 S19P unknown Het
Igsf8 T G 1: 172,318,632 I462R probably damaging Het
Kirrel3 T C 9: 35,007,756 F243S probably damaging Het
Krt80 C T 15: 101,352,254 V37M probably damaging Het
Lama4 T C 10: 39,078,843 Y1131H probably damaging Het
Mrpl21 T C 19: 3,292,529 probably benign Het
Mtcl1 T C 17: 66,354,214 N923S probably benign Het
Nectin2 G A 7: 19,738,306 P53S possibly damaging Het
Nup98 G A 7: 102,183,545 T335I probably damaging Het
Olfr1247 T C 2: 89,609,568 D178G probably damaging Het
Olfr1391 C A 11: 49,327,741 T110K probably damaging Het
Olfr1507 A G 14: 52,490,923 S14P probably benign Het
Olfr643 T A 7: 104,058,847 I252F probably damaging Het
Olfr822 T C 10: 130,074,758 M116T possibly damaging Het
Pcdhb14 A G 18: 37,449,032 E397G probably benign Het
Pcgf5 T G 19: 36,434,676 probably benign Het
Pclo C T 5: 14,714,443 P1025L probably damaging Het
Pdcd1lg2 C A 19: 29,454,511 F226L probably benign Het
Pik3ca T A 3: 32,439,886 S332R probably benign Het
Plek A T 11: 16,981,887 D321E probably benign Het
Pm20d2 A G 4: 33,179,241 F333L probably damaging Het
Polk T C 13: 96,483,983 T570A probably benign Het
Rpgrip1l G A 8: 91,300,809 L201F probably damaging Het
Serpinb2 T A 1: 107,524,877 L395H probably damaging Het
Slc9c1 T G 16: 45,547,640 S197R probably damaging Het
Smg1 T A 7: 118,180,380 E1264V possibly damaging Het
Sned1 A G 1: 93,274,668 D678G probably benign Het
Sorcs2 A G 5: 36,031,212 S851P probably benign Het
Srcap A G 7: 127,530,502 probably benign Het
Tbck T C 3: 132,736,103 Y557H probably damaging Het
Trim9 T C 12: 70,251,221 D570G probably damaging Het
Usp25 A G 16: 77,081,653 Y655C probably damaging Het
Utrn T A 10: 12,710,166 T956S probably benign Het
Vmn1r68 T A 7: 10,527,872 I100F probably benign Het
Vps13a A T 19: 16,654,370 S2634T probably benign Het
Zfp472 T A 17: 32,977,416 L155* probably null Het
Zfp808 A G 13: 62,169,567 I43M possibly 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
IGL01757:Tfap2d APN 1 19104580 missense probably benign
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
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
Posted On2016-08-02