Incidental Mutation 'R6219:Tfap4'
ID 503914
Institutional Source Beutler Lab
Gene Symbol Tfap4
Ensembl Gene ENSMUSG00000005718
Gene Name transcription factor AP4
Synonyms AP-4, Tcfap4, D930048N17Rik, bHLHc41
MMRRC Submission 044351-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.599) question?
Stock # R6219 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 4362525-4377718 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4365175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 196 (S196P)
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: S256P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000005862
Gene: ENSMUSG00000005718
AA Change: S256P

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: S196P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.0603 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (42/42)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik T C 4: 136,190,059 (GRCm39) S147P unknown Het
Acat2 T C 17: 13,179,604 (GRCm39) probably benign Het
Ano2 A G 6: 125,792,553 (GRCm39) D349G probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ccnf C A 17: 24,445,678 (GRCm39) E523* probably null Het
Ccr10 C T 11: 101,065,375 (GRCm39) A52T possibly damaging Het
Cdc14b C T 13: 64,353,338 (GRCm39) probably benign Het
Cirop G T 14: 54,933,116 (GRCm39) Q356K noncoding transcript Het
Cmya5 T C 13: 93,230,951 (GRCm39) E1379G probably damaging Het
Cyfip1 A G 7: 55,558,189 (GRCm39) D822G possibly damaging Het
Cyp4a29 A C 4: 115,106,927 (GRCm39) T195P probably damaging Het
Dmxl1 A T 18: 50,035,434 (GRCm39) T2283S probably damaging Het
Dnah7b A G 1: 46,272,745 (GRCm39) D2291G probably benign Het
Dock3 T A 9: 106,872,080 (GRCm39) L493F probably damaging Het
Fbxw7 G A 3: 84,876,520 (GRCm39) G227D probably damaging Het
Fmo2 A T 1: 162,708,085 (GRCm39) V350D probably damaging Het
Glis1 C T 4: 107,489,102 (GRCm39) P487S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm35315 G T 5: 110,226,410 (GRCm39) T343K probably benign Het
Gpr141 A G 13: 19,936,697 (GRCm39) I26T probably benign Het
Hectd4 T G 5: 121,446,941 (GRCm39) V311G possibly damaging Het
Ino80d C T 1: 63,118,206 (GRCm39) E322K possibly damaging Het
Irs2 A G 8: 11,055,121 (GRCm39) S1104P probably damaging Het
Lama1 T C 17: 68,097,851 (GRCm39) F1744L probably benign Het
Lcn10 A T 2: 25,573,587 (GRCm39) R55* probably null Het
Lrp2 A T 2: 69,299,822 (GRCm39) C3077S probably damaging Het
Mdc1 T A 17: 36,161,566 (GRCm39) S826R probably benign Het
Nr2c1 G T 10: 93,999,648 (GRCm39) V103L probably benign Het
Nup133 A T 8: 124,663,612 (GRCm39) D310E possibly damaging Het
Or7c70 A G 10: 78,683,093 (GRCm39) S219P possibly damaging Het
Pip5k1b T A 19: 24,359,187 (GRCm39) E112D probably damaging Het
Pira12 A T 7: 3,897,640 (GRCm39) V485E probably damaging Het
Reln T C 5: 22,153,594 (GRCm39) K2237E probably damaging Het
Sirt2 A G 7: 28,466,940 (GRCm39) probably benign Het
Slit2 A T 5: 48,459,770 (GRCm39) H1350L possibly damaging Het
Snx15 A G 19: 6,171,538 (GRCm39) S179P probably damaging Het
Sp8 T G 12: 118,812,402 (GRCm39) S86A probably benign Het
Sptbn5 T C 2: 119,907,803 (GRCm39) probably benign Het
Tgm3 T C 2: 129,880,530 (GRCm39) probably null Het
Tnks2 T C 19: 36,843,604 (GRCm39) probably benign Het
Ttll11 A T 2: 35,642,511 (GRCm39) probably null Het
Vwa3b C A 1: 37,139,779 (GRCm39) Q367K possibly damaging Het
Zdhhc20 A T 14: 58,078,340 (GRCm39) V312E 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
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
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'- TCCTACAGGAGCTCCATCTTG -3'
(R):5'- GACAGCCATGATGAGAGCTATG -3'

Sequencing Primer
(F):5'- AGCTCCATCTTGCTCTTGATCCAC -3'
(R):5'- TACTGGAGACCAAGCCTTTG -3'
Posted On 2018-02-27