Incidental Mutation 'E0370:Tfap4'
ID 206419
Institutional Source Beutler Lab
Gene Symbol Tfap4
Ensembl Gene ENSMUSG00000005718
Gene Name transcription factor AP4
Synonyms AP-4, Tcfap4, D930048N17Rik, bHLHc41
Accession Numbers
Essential gene? Possibly essential (E-score: 0.657) question?
Stock # E0370 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4362525-4377718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4377334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 16 (H16L)
Ref Sequence ENSEMBL: ENSMUSP00000005862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005862] [ENSMUST00000230875]
AlphaFold Q9JIZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000005862
AA Change: H16L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: H16L

DomainStartEndE-ValueType
low complexity region 41 52 N/A INTRINSIC
HLH 54 105 2.06e-16 SMART
coiled coil region 144 183 N/A INTRINSIC
low complexity region 193 210 N/A INTRINSIC
low complexity region 225 238 N/A INTRINSIC
low complexity region 306 327 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000230875
Meta Mutation Damage Score 0.1818 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.1%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial prenatal lethality and reduced suppression of Cd4 in double negative thymocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik TGCAGCGACTGGACGGCGGCA TGCA 11: 70,507,252 (GRCm39) probably null Het
Aire T A 10: 77,877,897 (GRCm39) N180I probably damaging Het
Asic3 G T 5: 24,618,985 (GRCm39) L92F probably damaging Het
Birc6 G A 17: 74,984,352 (GRCm39) D4455N probably damaging Het
Cd36 A T 5: 17,990,747 (GRCm39) C464* probably null Het
Cdx1 A C 18: 61,153,501 (GRCm39) I179S probably damaging Het
Dnah2 A T 11: 69,406,441 (GRCm39) probably null Het
Dst A T 1: 34,288,552 (GRCm39) probably benign Het
Epb41l3 A G 17: 69,581,799 (GRCm39) N580S possibly damaging Het
Hnrnpm A T 17: 33,877,896 (GRCm39) probably benign Het
Katnip A G 7: 125,449,474 (GRCm39) D846G probably benign Het
Map2 A T 1: 66,455,883 (GRCm39) probably benign Het
Mapk11 T C 15: 89,030,716 (GRCm39) D88G probably damaging Het
Mbd4 C T 6: 115,826,116 (GRCm39) E271K possibly damaging Het
Mpp4 T G 1: 59,178,917 (GRCm39) probably benign Het
Mtarc1 T C 1: 184,527,425 (GRCm39) probably benign Het
Muc2 T C 7: 141,282,598 (GRCm39) Y609H probably damaging Het
Or8b3b A T 9: 38,583,857 (GRCm39) D307E probably damaging Het
Pex1 T A 5: 3,681,614 (GRCm39) probably null Het
Prdm11 T C 2: 92,810,924 (GRCm39) Y225C probably damaging Het
Psmc3 T A 2: 90,885,463 (GRCm39) probably null Het
Slc26a8 A T 17: 28,861,361 (GRCm39) D774E possibly damaging Het
Slc9a2 A T 1: 40,802,701 (GRCm39) probably null Het
Smc1b A G 15: 85,011,782 (GRCm39) Y168H probably damaging Het
Steap1 T C 5: 5,790,673 (GRCm39) R92G probably damaging Het
Tbx22 T C X: 106,728,759 (GRCm39) I430T probably benign Het
Tnxb A G 17: 34,897,917 (GRCm39) D855G probably damaging Het
Trip13 A G 13: 74,068,558 (GRCm39) probably benign Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Vmn2r121 A G X: 123,037,617 (GRCm39) V801A probably benign Het
Wiz C T 17: 32,574,092 (GRCm39) R935Q probably damaging Het
Other mutations in Tfap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Tfap4 APN 16 4,365,223 (GRCm39) missense probably damaging 1.00
IGL01816:Tfap4 APN 16 4,369,956 (GRCm39) missense probably damaging 0.98
IGL02947:Tfap4 APN 16 4,369,224 (GRCm39) missense probably damaging 0.99
R1311:Tfap4 UTSW 16 4,377,290 (GRCm39) critical splice donor site probably null
R1791:Tfap4 UTSW 16 4,369,933 (GRCm39) missense possibly damaging 0.53
R4300:Tfap4 UTSW 16 4,369,224 (GRCm39) missense probably damaging 0.99
R4371:Tfap4 UTSW 16 4,369,863 (GRCm39) missense probably damaging 1.00
R5945:Tfap4 UTSW 16 4,363,493 (GRCm39) missense possibly damaging 0.53
R6219:Tfap4 UTSW 16 4,365,175 (GRCm39) missense probably damaging 0.96
R6738:Tfap4 UTSW 16 4,367,311 (GRCm39) missense probably damaging 0.99
R7678:Tfap4 UTSW 16 4,369,630 (GRCm39) missense possibly damaging 0.53
R8496:Tfap4 UTSW 16 4,369,170 (GRCm39) missense probably damaging 0.99
R8854:Tfap4 UTSW 16 4,367,238 (GRCm39) missense probably benign 0.03
R8927:Tfap4 UTSW 16 4,369,218 (GRCm39) missense probably damaging 0.99
R8928:Tfap4 UTSW 16 4,369,218 (GRCm39) missense probably damaging 0.99
R9127:Tfap4 UTSW 16 4,365,183 (GRCm39) missense possibly damaging 0.53
X0065:Tfap4 UTSW 16 4,365,140 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCCAGTAGCTAAGAAAGGCG -3'
(R):5'- TTTCCCGCCTTGAAACAGAC -3'

Sequencing Primer
(F):5'- CTAAGAAAGGCGAGCGAGCTC -3'
(R):5'- CTTGAAACAGACATCTGATCAGCTG -3'
Posted On 2014-06-23