Incidental Mutation 'IGL01816:Tfap4'
ID 154403
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01816
Quality Score
Status
Chromosome 16
Chromosomal Location 4362525-4377718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4369956 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 13 (N13S)
Ref Sequence ENSEMBL: ENSMUSP00000155803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005862] [ENSMUST00000229956] [ENSMUST00000230875]
AlphaFold Q9JIZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000005862
AA Change: N33S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: N33S

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 damaging
Transcript: ENSMUST00000229956
AA Change: N13S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000230875
Coding Region Coverage
Validation Efficiency
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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T A 13: 81,677,168 (GRCm39) T1888S probably benign Het
Asxl3 T C 18: 22,655,545 (GRCm39) V1185A probably benign Het
Bmp8a G A 4: 123,210,190 (GRCm39) R299C probably damaging Het
Cactin T C 10: 81,161,699 (GRCm39) Y744H possibly damaging Het
Ccr2 A T 9: 123,906,235 (GRCm39) I172L probably benign Het
Cyp2j11 T G 4: 96,183,161 (GRCm39) Q469P probably damaging Het
Dync1i1 T C 6: 5,767,146 (GRCm39) probably null Het
Epb41 A G 4: 131,731,006 (GRCm39) S192P probably benign Het
Gpd2 T A 2: 57,254,078 (GRCm39) Y601* probably null Het
Ift140 G A 17: 25,305,999 (GRCm39) probably null Het
Obscn A G 11: 58,886,605 (GRCm39) probably benign Het
Or10j27 A G 1: 172,957,840 (GRCm39) probably benign Het
Pcdhb13 A C 18: 37,576,028 (GRCm39) R135S probably benign Het
Phtf2 A T 5: 21,008,274 (GRCm39) W136R probably damaging Het
Prpf40b G A 15: 99,213,099 (GRCm39) A662T probably damaging Het
Retsat A G 6: 72,578,588 (GRCm39) N100S probably benign Het
Saxo1 T A 4: 86,363,851 (GRCm39) M211L probably benign Het
Slc5a9 A G 4: 111,755,811 (GRCm39) L29P probably damaging Het
St14 A G 9: 31,019,563 (GRCm39) V86A possibly damaging Het
Other mutations in Tfap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Tfap4 APN 16 4,365,223 (GRCm39) missense probably damaging 1.00
IGL02947:Tfap4 APN 16 4,369,224 (GRCm39) missense probably damaging 0.99
E0370:Tfap4 UTSW 16 4,377,334 (GRCm39) missense possibly damaging 0.53
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
Posted On 2014-02-04