Incidental Mutation 'R7218:Tfap2c'
ID561571
Institutional Source Beutler Lab
Gene Symbol Tfap2c
Ensembl Gene ENSMUSG00000028640
Gene Nametranscription factor AP-2, gamma
SynonymsTcfap2c, Stra2, AP2gamma, Ap-2.2
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7218 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location172549593-172558622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 172557357 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 508 (M508K)
Ref Sequence ENSEMBL: ENSMUSP00000096657 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030391] [ENSMUST00000099058] [ENSMUST00000170744]
Predicted Effect probably benign
Transcript: ENSMUST00000030391
AA Change: M444K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000030391
Gene: ENSMUSG00000028640
AA Change: M444K

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 benign
Transcript: ENSMUST00000099058
AA Change: M508K

PolyPhen 2 Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000096657
Gene: ENSMUSG00000028640
AA Change: M508K

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 probably benign
Transcript: ENSMUST00000170744
AA Change: M483K

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000129922
Gene: ENSMUSG00000028640
AA Change: M483K

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 0.026 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C23Rik T C 17: 45,733,051 T94A unknown Het
1700025G04Rik T C 1: 151,915,508 R101G probably damaging Het
6430548M08Rik T A 8: 120,145,583 S83R probably damaging Het
9130019O22Rik A T 7: 127,384,680 S417T probably benign Het
A430089I19Rik C A 5: 94,303,254 V338F probably benign Het
Actn2 A G 13: 12,278,913 S574P probably benign Het
Ank A T 15: 27,544,321 Y56F probably damaging Het
Ano7 A G 1: 93,380,469 D74G probably benign Het
Apaf1 T A 10: 91,037,002 T738S probably damaging Het
Apcs A T 1: 172,894,664 D38E possibly damaging Het
Arntl A T 7: 113,287,183 H149L probably damaging Het
Asap1 G A 15: 64,130,250 T404M probably damaging Het
Atp8a1 T A 5: 67,702,981 D717V Het
Baiap2l1 A G 5: 144,275,877 S443P probably benign Het
Brix1 T C 15: 10,483,292 probably null Het
C1qtnf6 T C 15: 78,527,374 E34G probably benign Het
Chil3 A C 3: 106,160,537 probably null Het
Chmp4c T A 3: 10,367,138 L36Q probably damaging Het
Chrna2 T A 14: 66,143,871 probably null Het
Clec1a C T 6: 129,436,955 C57Y probably damaging Het
Clec7a G T 6: 129,468,922 T95K probably damaging Het
Csf1r C A 18: 61,130,324 S926R probably damaging Het
Dnajc9 A G 14: 20,388,439 I61T probably benign Het
Extl1 T G 4: 134,359,769 S493R probably benign Het
Fance A G 17: 28,326,174 D143G probably benign Het
Fcho2 C T 13: 98,753,613 probably null Het
Filip1 T C 9: 79,818,074 S1088G probably benign Het
Gm10696 A T 3: 94,175,549 H318Q possibly damaging Het
Gnat1 A C 9: 107,675,985 M319R possibly damaging Het
Gpr132 A T 12: 112,852,429 V259E probably damaging Het
Gprc5d T A 6: 135,116,454 M152L probably benign Het
Hif3a C T 7: 17,050,588 R244H probably damaging Het
Hivep3 T C 4: 120,095,452 S322P possibly damaging Het
Il33 T A 19: 29,958,925 F229I probably damaging Het
Il4ra A G 7: 125,575,778 D386G probably benign Het
Ino80 G T 2: 119,458,127 H33N probably benign Het
Ip6k1 A G 9: 108,045,582 D228G unknown Het
Mamdc2 C T 19: 23,447,610 A40T probably benign Het
Meis3 T C 7: 16,184,701 V357A probably benign Het
Mycbp2 T C 14: 103,133,846 T4199A probably benign Het
Myo7b A T 18: 31,981,001 M1099K probably benign Het
Mzb1 A T 18: 35,647,922 H104Q probably benign Het
Nfatc2 A G 2: 168,571,264 L167P probably benign Het
Numa1 A T 7: 102,000,910 S1283C probably benign Het
Nup98 T G 7: 102,191,900 probably null Het
Olfr1342 T C 4: 118,690,018 I145V probably benign Het
Olfr476 T C 7: 107,967,667 L90P probably benign Het
Pkhd1l1 A G 15: 44,522,695 T1243A possibly damaging Het
Ptpro C T 6: 137,454,598 R1152W probably damaging Het
Ptprt T C 2: 161,547,364 T1270A probably damaging Het
Pwwp2b A C 7: 139,256,133 T497P probably damaging Het
Rab44 T A 17: 29,139,444 V202E Het
Rbfox1 C T 16: 7,294,083 T191I probably damaging Het
Rufy4 A G 1: 74,133,015 K299R probably damaging Het
Snip1 T A 4: 125,072,919 S381T probably damaging Het
Spen T C 4: 141,472,650 I2889V possibly damaging Het
St3gal3 T A 4: 117,957,442 D218V Het
Sun1 A G 5: 139,226,687 T70A unknown Het
Tbc1d23 C T 16: 57,170,382 V678M probably damaging Het
Tdh T A 14: 63,495,757 Y195F probably damaging Het
Tescl C T 7: 24,333,861 R13H possibly damaging Het
Trappc4 A G 9: 44,405,290 M136T probably benign Het
Tyk2 A G 9: 21,105,054 C1207R probably damaging Het
Ugt2b36 T C 5: 87,081,539 Y355C probably damaging Het
Vmn1r119 T A 7: 21,011,647 H270L probably benign Het
Vmn2r20 G A 6: 123,386,115 P570L probably damaging Het
Wnk1 A C 6: 120,002,273 Y284* probably null Het
Yars2 C T 16: 16,303,318 A112V probably damaging Het
Zer1 T C 2: 30,105,012 N470S probably damaging Het
Zfp879 A C 11: 50,832,681 V516G possibly damaging Het
Other mutations in Tfap2c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Tfap2c APN 2 172551518 missense probably damaging 0.98
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
R7228:Tfap2c UTSW 2 172551572 missense probably benign 0.01
R7502:Tfap2c UTSW 2 172551719 missense probably benign
Predicted Primers PCR Primer
(F):5'- TTGGAGCCGAACATACAAAACTG -3'
(R):5'- CTTCAGGATAGCATGTCCAGGG -3'

Sequencing Primer
(F):5'- AAAACTGTTTGTCTCATTTCAGCCTG -3'
(R):5'- TAGCATGTCCAGGGTTAAATGG -3'
Posted On2019-06-26