Incidental Mutation 'IGL00662:Tfap2c'
ID14404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfap2c
Ensembl Gene ENSMUSG00000028640
Gene Nametranscription factor AP-2, gamma
SynonymsTcfap2c, Stra2, AP2gamma, Ap-2.2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00662
Quality Score
Status
Chromosome2
Chromosomal Location172549593-172558622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 172551518 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 118 (Y118H)
Ref Sequence ENSEMBL: ENSMUSP00000096657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030391] [ENSMUST00000099058] [ENSMUST00000170744]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030391
AA Change: Y54H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: Y54H

DomainStartEndE-ValueType
low complexity region 54 66 N/A INTRINSIC
low complexity region 112 124 N/A INTRINSIC
low complexity region 148 168 N/A INTRINSIC
Pfam:TF_AP-2 219 427 2.1e-102 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099058
AA Change: Y118H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: Y118H

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 118 130 N/A INTRINSIC
low complexity region 176 188 N/A INTRINSIC
low complexity region 212 232 N/A INTRINSIC
Pfam:TF_AP-2 285 486 2e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142633
Predicted Effect probably damaging
Transcript: ENSMUST00000170744
AA Change: Y93H

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: Y93H

DomainStartEndE-ValueType
low complexity region 93 105 N/A INTRINSIC
low complexity region 151 163 N/A INTRINSIC
low complexity region 187 207 N/A INTRINSIC
Pfam:TF_AP-2 258 466 4.4e-102 PFAM
Meta Mutation Damage Score 0.1525 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to embryonic growth retardation, failure to establish a normal maternal-embryonic interface, malformed extra-embryonic tissues, and early embryonic lethality due to placental malfunction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 101,289,896 N587S probably benign Het
Bcar3 C T 3: 122,512,936 A186V probably benign Het
Bcr A T 10: 75,168,100 probably benign Het
Cd207 A G 6: 83,675,926 I74T possibly damaging Het
Cenpn T C 8: 116,928,587 probably null Het
Chuk A T 19: 44,097,210 F228I possibly damaging Het
Cmss1 T C 16: 57,303,729 D233G probably damaging Het
Copg1 C T 6: 87,902,370 T466I possibly damaging Het
Ctsll3 A G 13: 60,798,942 S288P probably benign Het
Ddx58 A G 4: 40,220,389 probably benign Het
Fat3 T A 9: 15,996,427 I2760F possibly damaging Het
Gpi1 A G 7: 34,215,950 probably benign Het
Il18rap C T 1: 40,541,921 R318C probably benign Het
Kcnk9 A G 15: 72,546,075 S69P probably benign Het
Kctd18 T C 1: 57,956,738 T127A probably damaging Het
Khk T C 5: 30,929,675 probably benign Het
Ncapg T A 5: 45,693,160 S703T possibly damaging Het
Nup98 T A 7: 102,194,987 N47I probably damaging Het
Rad1 A G 15: 10,490,409 N154S probably benign Het
Slc35f5 T A 1: 125,587,424 L438H probably damaging Het
Slc7a2 A G 8: 40,905,622 Y334C possibly damaging Het
Spata17 T C 1: 187,117,339 N124S probably benign Het
Tnpo3 A T 6: 29,565,846 L503* probably null Het
Utrn C T 10: 12,664,961 E1907K probably damaging Het
Vav3 T A 3: 109,528,392 probably benign Het
Vps13a T A 19: 16,704,540 K1033I probably damaging Het
Zfp202 A G 9: 40,211,043 N367S probably benign Het
Other mutations in Tfap2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02986:Tfap2c APN 2 172557251 missense probably damaging 1.00
IGL03151:Tfap2c APN 2 172557190 nonsense probably null
R0268:Tfap2c UTSW 2 172551503 missense probably benign 0.01
R0344:Tfap2c UTSW 2 172551503 missense probably benign 0.01
R1982:Tfap2c UTSW 2 172557236 missense probably damaging 0.98
R3120:Tfap2c UTSW 2 172557095 missense possibly damaging 0.96
R4038:Tfap2c UTSW 2 172556190 missense probably damaging 0.96
R4498:Tfap2c UTSW 2 172557182 nonsense probably null
R4570:Tfap2c UTSW 2 172557327 missense probably damaging 1.00
R4855:Tfap2c UTSW 2 172551518 missense probably damaging 0.98
R5061:Tfap2c UTSW 2 172552027 missense probably damaging 1.00
R5610:Tfap2c UTSW 2 172549858 missense probably benign 0.06
R6706:Tfap2c UTSW 2 172557356 missense probably benign 0.26
R7218:Tfap2c UTSW 2 172557357 missense probably benign 0.12
R7228:Tfap2c UTSW 2 172551572 missense probably benign 0.01
R7502:Tfap2c UTSW 2 172551719 missense probably benign
Posted On2012-12-06