Incidental Mutation 'IGL01155:Tfap4'
ID 52987
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: 0.599) question?
Stock # IGL01155
Quality Score
Status
Chromosome 16
Chromosomal Location 4362525-4377718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4365223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 180 (P180T)
Ref Sequence ENSEMBL: ENSMUSP00000155303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005862] [ENSMUST00000229956] [ENSMUST00000230875]
AlphaFold Q9JIZ5
Predicted Effect possibly damaging
Transcript: ENSMUST00000005862
AA Change: P240T

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: P240T

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: ENSMUST00000229956
Predicted Effect probably damaging
Transcript: ENSMUST00000230875
AA Change: P180T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adgrl3 T A 5: 81,708,740 (GRCm39) I409N probably benign Het
Akap13 A G 7: 75,219,684 (GRCm39) D29G probably damaging Het
Ap4e1 C A 2: 126,885,365 (GRCm39) T322K probably damaging Het
Arfgef1 G A 1: 10,269,207 (GRCm39) probably benign Het
Asic5 A G 3: 81,915,895 (GRCm39) T282A probably benign Het
Bptf T C 11: 106,971,553 (GRCm39) T985A probably damaging Het
Btnl9 A G 11: 49,066,518 (GRCm39) F349L probably damaging Het
Bves T A 10: 45,229,955 (GRCm39) I253K probably damaging Het
Cars1 T A 7: 143,123,586 (GRCm39) Y455F probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cuedc2 C A 19: 46,321,088 (GRCm39) V15F probably damaging Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Fat1 G A 8: 45,476,986 (GRCm39) A2011T probably damaging Het
Fyb2 C T 4: 104,856,583 (GRCm39) T533I probably benign Het
Gm1043 T C 5: 37,344,433 (GRCm39) L182P probably damaging Het
Ice1 A T 13: 70,752,201 (GRCm39) V1295E possibly damaging Het
Il12b T A 11: 44,294,915 (GRCm39) S18T probably benign Het
Iqcg A G 16: 32,861,245 (GRCm39) V157A probably damaging Het
Itgax T A 7: 127,744,207 (GRCm39) M937K probably benign Het
Large1 T C 8: 73,858,617 (GRCm39) S84G probably benign Het
Lrp1b T C 2: 41,660,947 (GRCm39) T54A probably benign Het
Mfn1 A G 3: 32,596,985 (GRCm39) M148V probably damaging Het
Mobp C A 9: 119,997,300 (GRCm39) T73K probably benign Het
Ms4a3 T C 19: 11,607,019 (GRCm39) probably benign Het
Muc5ac C T 7: 141,360,680 (GRCm39) probably benign Het
Mzt2 A C 16: 15,680,274 (GRCm39) S104A possibly damaging Het
Naa16 T A 14: 79,622,155 (GRCm39) K27N probably damaging Het
Nos1 T A 5: 118,083,991 (GRCm39) I1267N probably damaging Het
Or10j5 T A 1: 172,784,491 (GRCm39) I43N probably benign Het
Rara A G 11: 98,859,010 (GRCm39) E153G possibly damaging Het
Scn2a T G 2: 65,548,092 (GRCm39) S66A probably damaging Het
Slc6a1 A T 6: 114,291,426 (GRCm39) probably null Het
Sorbs3 A G 14: 70,436,790 (GRCm39) V136A probably damaging Het
Spink5 T A 18: 44,114,214 (GRCm39) H143Q probably benign Het
Susd2 G A 10: 75,476,726 (GRCm39) T99I possibly damaging Het
T C T 17: 8,660,577 (GRCm39) probably null Het
Tac2 G A 10: 127,562,003 (GRCm39) probably null Het
Trap1 G A 16: 3,861,842 (GRCm39) Q641* probably null Het
Unc119 A G 11: 78,239,435 (GRCm39) N252S probably damaging Het
Other mutations in Tfap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21