Incidental Mutation 'R8701:Tead4'
ID 669064
Institutional Source Beutler Lab
Gene Symbol Tead4
Ensembl Gene ENSMUSG00000030353
Gene Name TEA domain family member 4
Synonyms TEF-3, Etfr2, Tefr, Tef3, Tcf13r1, TEAD-4, ETFR-2a, Tefr1a, Rtef1
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8701 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 128224288-128300823 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128242566 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 237 (K237N)
Ref Sequence ENSEMBL: ENSMUSP00000006311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006311] [ENSMUST00000112157] [ENSMUST00000130454]
AlphaFold Q62296
Predicted Effect probably damaging
Transcript: ENSMUST00000006311
AA Change: K237N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006311
Gene: ENSMUSG00000030353
AA Change: K237N

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
TEA 27 98 2.13e-48 SMART
low complexity region 121 130 N/A INTRINSIC
low complexity region 191 206 N/A INTRINSIC
PDB:4LN0|B 209 427 1e-164 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000112157
AA Change: K194N

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107784
Gene: ENSMUSG00000030353
AA Change: K194N

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
TEA 27 98 2.13e-48 SMART
Pfam:TEA 111 376 2.2e-109 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000130454
AA Change: K194N

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118083
Gene: ENSMUSG00000030353
AA Change: K194N

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
TEA 27 98 2.13e-48 SMART
Pfam:TEA 111 376 2.2e-109 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene product is a member of the transcriptional enhancer factor (TEF) family of transcription factors, which contain the TEA/ATTS DNA-binding domain. It is preferentially expressed in the skeletal muscle, and binds to the M-CAT regulatory element found in promoters of muscle-specific genes to direct their gene expression. This factor may play a role in the embryonic development of skeletal muscle. Alternatively spliced transcripts encoding distinct isoforms, which are translated through the use of a non-AUG (AUU) initiation codon, have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele die prior to somitogenesis, lack trophoblast stem cells and develop abnormally. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik A T 1: 26,685,445 V218D probably benign Het
Abcc4 T C 14: 118,599,373 I659V probably benign Het
Adamtsl4 T A 3: 95,684,966 D24V possibly damaging Het
Agtr1b A T 3: 20,316,092 F117I probably damaging Het
Aldh3b2 A G 19: 3,978,448 E116G probably damaging Het
Alox5 T A 6: 116,413,826 I455F possibly damaging Het
Arnt C T 3: 95,493,765 S675F possibly damaging Het
C330027C09Rik T A 16: 49,007,141 Y456* probably null Het
Camkv A G 9: 107,948,041 T414A possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cnr1 A G 4: 33,944,739 I376V probably benign Het
Cyp2j12 T A 4: 96,121,573 K183M possibly damaging Het
Dact3 G T 7: 16,885,276 R232L probably damaging Het
Dlg5 G A 14: 24,176,700 T378M probably benign Het
Dnah10 T A 5: 124,726,847 D79E probably benign Het
Dsc1 A T 18: 20,107,682 Y195* probably null Het
Elovl1 A T 4: 118,430,510 M1L probably benign Het
Fam107a A G 14: 8,298,755 F124L probably damaging Het
Fam219a A G 4: 41,520,283 M155T probably damaging Het
Gm28308 C G 6: 52,163,450 probably benign Het
Gpr153 C T 4: 152,279,101 probably benign Het
Gtf2ird2 T A 5: 134,216,235 I445N probably damaging Het
Gzmb A T 14: 56,260,360 V141E probably benign Het
Hmcn1 A T 1: 150,755,257 M930K probably benign Het
Hunk T A 16: 90,386,610 F52Y probably damaging Het
Il18rap A G 1: 40,539,341 E304G probably benign Het
Klk14 A G 7: 43,694,142 S133G possibly damaging Het
Man2b1 T C 8: 85,095,153 S695P probably damaging Het
Mccc1 A T 3: 35,995,784 D86E probably benign Het
Mcu T A 10: 59,467,653 I121F probably damaging Het
Mlxipl T C 5: 135,107,191 F90S possibly damaging Het
Muc2 A G 7: 141,695,607 D536G probably damaging Het
Naa11 T C 5: 97,391,958 S114G possibly damaging Het
Ncaph T C 2: 127,106,138 K676E probably benign Het
Neurl2 C T 2: 164,833,134 D103N probably benign Het
Nup210l T C 3: 90,122,814 M278T probably benign Het
Olfr1192-ps1 A G 2: 88,652,487 I112V possibly damaging Het
Olfr550 A T 7: 102,578,692 M66L possibly damaging Het
Olfr897-ps1 A T 9: 38,309,438 L214F unknown Het
Olfr967 A T 9: 39,750,914 H176L probably damaging Het
Olfr981 A G 9: 40,022,519 N42S probably damaging Het
Pcdh20 A T 14: 88,468,413 Y484N possibly damaging Het
Pkhd1l1 A G 15: 44,574,683 Y3598C probably damaging Het
Plcg2 T A 8: 117,581,677 L336Q probably damaging Het
Ppp1r8 T C 4: 132,830,642 D207G possibly damaging Het
Prdm13 C T 4: 21,678,615 C625Y probably damaging Het
Ptcd3 T C 6: 71,885,511 D480G possibly damaging Het
Rbm39 T A 2: 156,161,587 K291M probably damaging Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Rnf220 T C 4: 117,489,993 H74R probably damaging Het
Sp6 A T 11: 97,022,264 T268S probably damaging Het
Sphk2 A T 7: 45,710,825 V585E probably damaging Het
Syne1 G A 10: 5,205,026 Q5638* probably null Het
Tas1r3 C T 4: 155,861,046 V573I probably benign Het
Tdrd1 T C 19: 56,851,484 S659P possibly damaging Het
Tex24 T A 8: 27,345,124 C227S probably benign Het
Tom1 A T 8: 75,052,168 T174S probably benign Het
Tpm3 C T 3: 90,087,680 R168C possibly damaging Het
Trpv3 A G 11: 73,278,936 E111G possibly damaging Het
Unc80 A G 1: 66,638,032 D2040G possibly damaging Het
Usp47 A G 7: 112,093,195 T955A probably damaging Het
Vmn2r11 G A 5: 109,047,690 A590V probably damaging Het
Wisp2 G T 2: 163,828,866 G98W probably damaging Het
Zfp112 A G 7: 24,125,740 R382G probably damaging Het
Zfp606 T A 7: 12,481,098 D84E unknown Het
Other mutations in Tead4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0234:Tead4 UTSW 6 128243402 missense probably damaging 1.00
R0234:Tead4 UTSW 6 128243402 missense probably damaging 1.00
R2054:Tead4 UTSW 6 128270962 missense probably damaging 1.00
R2865:Tead4 UTSW 6 128248099 splice site probably null
R4959:Tead4 UTSW 6 128270987 missense probably damaging 1.00
R4973:Tead4 UTSW 6 128270987 missense probably damaging 1.00
R5023:Tead4 UTSW 6 128294171 intron probably benign
R5051:Tead4 UTSW 6 128294299 intron probably benign
R6785:Tead4 UTSW 6 128242481 nonsense probably null
R7215:Tead4 UTSW 6 128228678 missense probably damaging 1.00
R7913:Tead4 UTSW 6 128243368 critical splice donor site probably null
R9283:Tead4 UTSW 6 128228629 missense probably damaging 1.00
Z1088:Tead4 UTSW 6 128270904 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTTACCCAGAACTTCACAAG -3'
(R):5'- AGCTAGGGTGACTCTAGTGG -3'

Sequencing Primer
(F):5'- TTCACAAGGAAGAAGGCATTAGAG -3'
(R):5'- GGGGAATCCATCTCATCTGAG -3'
Posted On 2021-04-30