Incidental Mutation 'IGL02412:Tfap2b'
ID294409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tfap2b
Ensembl Gene ENSMUSG00000025927
Gene Nametranscription factor AP-2 beta
SynonymsAP-2(beta), Tcfap2b, E130018K07Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02412
Quality Score
Status
Chromosome1
Chromosomal Location19208914-19238576 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 19219203 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 166 (D166V)
Ref Sequence ENSEMBL: ENSMUSP00000064488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027059] [ENSMUST00000064976] [ENSMUST00000187754]
Predicted Effect probably damaging
Transcript: ENSMUST00000027059
AA Change: D184V

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027059
Gene: ENSMUSG00000025927
AA Change: D184V

DomainStartEndE-ValueType
low complexity region 61 83 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
Pfam:TF_AP-2 228 428 7.1e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000064976
AA Change: D166V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064488
Gene: ENSMUSG00000025927
AA Change: D166V

DomainStartEndE-ValueType
low complexity region 43 65 N/A INTRINSIC
low complexity region 103 114 N/A INTRINSIC
low complexity region 178 192 N/A INTRINSIC
Pfam:TF_AP-2 208 415 2.2e-100 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186972
Predicted Effect probably damaging
Transcript: ENSMUST00000187754
AA Change: D184V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140213
Gene: ENSMUSG00000025927
AA Change: D184V

DomainStartEndE-ValueType
low complexity region 61 83 N/A INTRINSIC
low complexity region 121 132 N/A INTRINSIC
low complexity region 196 210 N/A INTRINSIC
Pfam:TF_AP-2 226 433 2.2e-101 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191068
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have kidney cysts and show neonatal or postnatal lethality, depending on strain background. On a congenic 129P2 background, mice have tremors, polydactyly, defective tubular secretory function and ion homeostasis, hypocalcemia, hyperphosphatemia, hyperuremia, and terminal renal failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Ccdc88b A T 19: 6,846,644 F1414I probably damaging Het
Cr1l C T 1: 195,114,766 G283E probably damaging Het
Cr1l T G 1: 195,114,772 Y319S probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr203 T A 16: 59,303,192 L13H probably damaging Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttc29 G A 8: 78,276,940 E262K possibly damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Yy1 T C 12: 108,794,097 probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null Het
Other mutations in Tfap2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00504:Tfap2b APN 1 19214026 missense possibly damaging 0.94
IGL01868:Tfap2b APN 1 19214282 missense probably damaging 0.98
IGL02408:Tfap2b APN 1 19234261 missense probably damaging 0.99
R0243:Tfap2b UTSW 1 19234123 missense probably damaging 1.00
R0552:Tfap2b UTSW 1 19234225 missense probably damaging 1.00
R1077:Tfap2b UTSW 1 19234149 nonsense probably null
R1541:Tfap2b UTSW 1 19234070 missense probably damaging 1.00
R1816:Tfap2b UTSW 1 19209212 missense probably damaging 0.98
R2474:Tfap2b UTSW 1 19214375 missense possibly damaging 0.49
R5019:Tfap2b UTSW 1 19226442 missense probably benign 0.31
R5300:Tfap2b UTSW 1 19228453 missense probably damaging 1.00
R5331:Tfap2b UTSW 1 19226498 missense probably benign
R5383:Tfap2b UTSW 1 19226498 missense probably benign
R5541:Tfap2b UTSW 1 19214026 missense possibly damaging 0.94
R5744:Tfap2b UTSW 1 19219221 missense probably benign 0.15
R7239:Tfap2b UTSW 1 19234180 missense probably damaging 1.00
X0026:Tfap2b UTSW 1 19226550 missense probably damaging 1.00
Posted On2015-04-16