Incidental Mutation 'R6479:Tead1'
ID 516979
Institutional Source Beutler Lab
Gene Symbol Tead1
Ensembl Gene ENSMUSG00000055320
Gene Name TEA domain family member 1
Synonyms mTEF-1, Tcf13, TEAD-1, TEF-1, Gtrgeo5, B230114H05Rik, 2610024B07Rik
MMRRC Submission 044611-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6479 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 112278563-112505991 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112460672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 192 (V192A)
Ref Sequence ENSEMBL: ENSMUSP00000128439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059768] [ENSMUST00000069256] [ENSMUST00000084705] [ENSMUST00000106638] [ENSMUST00000164363] [ENSMUST00000165036] [ENSMUST00000168981] [ENSMUST00000170352] [ENSMUST00000171197]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000059768
AA Change: V213A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000060671
Gene: ENSMUSG00000055320
AA Change: V213A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
Pfam:TEA 95 428 3e-127 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069256
AA Change: V188A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130459
Gene: ENSMUSG00000055320
AA Change: V188A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 128 144 N/A INTRINSIC
PDB:3KYS|C 194 411 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000084705
AA Change: V188A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081755
Gene: ENSMUSG00000055320
AA Change: V188A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 128 144 N/A INTRINSIC
PDB:3KYS|C 194 411 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000106638
AA Change: V192A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102249
Gene: ENSMUSG00000055320
AA Change: V192A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
PDB:3KYS|C 198 415 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000164363
AA Change: V213A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127574
Gene: ENSMUSG00000055320
AA Change: V213A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
internal_repeat_1 95 119 8.98e-7 PROSPERO
low complexity region 153 169 N/A INTRINSIC
PDB:3KYS|C 219 436 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000165036
AA Change: V192A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131221
Gene: ENSMUSG00000055320
AA Change: V192A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
PDB:3KYS|C 198 415 1e-153 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000168981
AA Change: V171A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133025
Gene: ENSMUSG00000055320
AA Change: V171A

DomainStartEndE-ValueType
Pfam:TEA 1 386 7.1e-166 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170352
AA Change: V167A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129798
Gene: ENSMUSG00000055320
AA Change: V167A

DomainStartEndE-ValueType
Pfam:TEA 1 382 4.5e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171197
AA Change: V192A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000128439
Gene: ENSMUSG00000055320
AA Change: V192A

DomainStartEndE-ValueType
TEA 11 82 3.67e-52 SMART
low complexity region 132 148 N/A INTRINSIC
Pfam:TEA 222 349 3e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167060
SMART Domains Protein: ENSMUSP00000130564
Gene: ENSMUSG00000055320

DomainStartEndE-ValueType
Pfam:TEA 1 128 1.8e-28 PFAM
low complexity region 132 148 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.7%
  • 20x: 92.0%
Validation Efficiency 95% (55/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitous transcriptional enhancer factor that is a member of the TEA/ATTS domain family. This protein directs the transactivation of a wide variety of genes and, in placental cells, also acts as a transcriptional repressor. Mutations in this gene cause Sveinsson's chorioretinal atrophy. Additional transcript variants have been described but their full-length natures have not been experimentally verified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene die between embryonic day 11 and 12.5. Abnormalities were seen in heart development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 A C 8: 25,119,681 (GRCm39) S533A probably benign Het
Akap6 T G 12: 53,187,952 (GRCm39) S1789A probably damaging Het
Alox15 A G 11: 70,236,011 (GRCm39) S519P probably damaging Het
Anapc2 A G 2: 25,175,407 (GRCm39) K816E probably benign Het
Atp6v1a T C 16: 43,919,121 (GRCm39) D488G probably benign Het
Banp A G 8: 122,718,176 (GRCm39) probably null Het
Camsap1 A G 2: 25,825,874 (GRCm39) C1367R possibly damaging Het
Casz1 C A 4: 149,021,535 (GRCm39) H539Q probably damaging Het
Ccl5 A G 11: 83,421,212 (GRCm39) Y26H probably benign Het
Cops3 A T 11: 59,723,898 (GRCm39) S86R probably benign Het
Cts7 A G 13: 61,503,455 (GRCm39) S170P probably benign Het
Cxcl15 A T 5: 90,943,104 (GRCm39) E35D possibly damaging Het
Dennd1b C T 1: 138,969,698 (GRCm39) probably benign Het
Dicer1 T C 12: 104,662,982 (GRCm39) D1533G probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock4 A G 12: 40,878,954 (GRCm39) E1531G probably damaging Het
Erap1 A G 13: 74,811,612 (GRCm39) probably null Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gm10309 A T 17: 86,812,007 (GRCm39) M1K probably null Het
Gm4884 A T 7: 40,690,211 (GRCm39) N36Y probably damaging Het
Hmcn1 G A 1: 150,553,053 (GRCm39) R2546* probably null Het
Hmcn2 A G 2: 31,315,480 (GRCm39) D3743G probably damaging Het
Hsd3b9 T A 3: 98,354,157 (GRCm39) E114V possibly damaging Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Jarid2 G A 13: 45,001,765 (GRCm39) G26D probably benign Het
Kif13b A G 14: 64,988,974 (GRCm39) K785R probably benign Het
Lamc3 A T 2: 31,777,413 (GRCm39) I20F probably benign Het
Limk1 G A 5: 134,690,373 (GRCm39) probably benign Het
Lrp4 C T 2: 91,317,429 (GRCm39) T851I probably damaging Het
Med13 G A 11: 86,248,353 (GRCm39) probably benign Het
Megf10 T C 18: 57,379,642 (GRCm39) F273L possibly damaging Het
Meltf T A 16: 31,700,700 (GRCm39) D73E probably damaging Het
Mroh7 A G 4: 106,560,385 (GRCm39) F640L possibly damaging Het
Mtor T C 4: 148,635,457 (GRCm39) S2448P probably benign Het
Myo3a T C 2: 22,467,877 (GRCm39) V377A probably benign Het
Myo5b T C 18: 74,750,086 (GRCm39) V183A probably damaging Het
Nedd4l G A 18: 65,342,752 (GRCm39) R755H probably damaging Het
Nrde2 T C 12: 100,110,207 (GRCm39) T275A probably benign Het
Or52n4 A G 7: 104,294,333 (GRCm39) I80T probably benign Het
Osgepl1 T C 1: 53,360,702 (GRCm39) V381A probably benign Het
Pcdha1 C T 18: 37,064,509 (GRCm39) T391I probably benign Het
Pdp1 T C 4: 11,961,327 (GRCm39) N328S probably damaging Het
Pepd A G 7: 34,740,147 (GRCm39) E340G probably benign Het
Plch1 T C 3: 63,651,931 (GRCm39) T387A probably benign Het
Plxnb1 C A 9: 108,940,733 (GRCm39) T1536K possibly damaging Het
Rbp7 T C 4: 149,534,347 (GRCm39) T130A probably benign Het
Rhot2 A T 17: 26,060,054 (GRCm39) V309E probably benign Het
Slc37a1 A G 17: 31,557,964 (GRCm39) I421M possibly damaging Het
Slit2 T A 5: 48,389,331 (GRCm39) L585H probably damaging Het
Spint4 C A 2: 164,542,764 (GRCm39) A119D probably benign Het
Strip2 G T 6: 29,944,496 (GRCm39) probably null Het
Stxbp4 T C 11: 90,510,013 (GRCm39) Y59C probably damaging Het
Syne1 G A 10: 5,181,679 (GRCm39) Q4219* probably null Het
Syne1 A T 10: 5,406,826 (GRCm39) I37N probably damaging Het
Syne4 G T 7: 30,016,340 (GRCm39) G179* probably null Het
Trim37 G T 11: 87,107,313 (GRCm39) E317* probably null Het
Wdfy3 A C 5: 102,061,045 (GRCm39) Y1390D probably damaging Het
Wdr81 A G 11: 75,342,931 (GRCm39) F779L possibly damaging Het
Zfp1002 C T 2: 150,096,511 (GRCm39) G306D probably damaging Het
Other mutations in Tead1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Tead1 APN 7 112,438,662 (GRCm39) missense probably damaging 1.00
IGL00678:Tead1 APN 7 112,441,087 (GRCm39) splice site probably null
IGL02640:Tead1 APN 7 112,460,663 (GRCm39) missense probably benign 0.09
R0635:Tead1 UTSW 7 112,490,913 (GRCm39) splice site probably benign
R1469:Tead1 UTSW 7 112,475,391 (GRCm39) missense probably damaging 1.00
R1469:Tead1 UTSW 7 112,475,391 (GRCm39) missense probably damaging 1.00
R1981:Tead1 UTSW 7 112,490,952 (GRCm39) missense probably benign 0.03
R2679:Tead1 UTSW 7 112,456,053 (GRCm39) missense probably damaging 1.00
R2866:Tead1 UTSW 7 112,358,694 (GRCm39) missense probably damaging 0.98
R4060:Tead1 UTSW 7 112,475,269 (GRCm39) splice site probably null
R4810:Tead1 UTSW 7 112,441,073 (GRCm39) splice site probably null
R5253:Tead1 UTSW 7 112,460,752 (GRCm39) missense probably damaging 1.00
R5266:Tead1 UTSW 7 112,358,673 (GRCm39) utr 5 prime probably benign
R6316:Tead1 UTSW 7 112,491,046 (GRCm39) missense probably damaging 1.00
R6562:Tead1 UTSW 7 112,460,650 (GRCm39) missense probably benign
R7178:Tead1 UTSW 7 112,441,144 (GRCm39) missense probably benign 0.00
R7207:Tead1 UTSW 7 112,441,287 (GRCm39) missense possibly damaging 0.78
R7996:Tead1 UTSW 7 112,441,311 (GRCm39) critical splice donor site probably null
R8037:Tead1 UTSW 7 112,358,727 (GRCm39) missense possibly damaging 0.67
R8057:Tead1 UTSW 7 112,358,721 (GRCm39) missense probably benign
R8415:Tead1 UTSW 7 112,456,135 (GRCm39) missense probably benign 0.00
R8827:Tead1 UTSW 7 112,475,449 (GRCm39) missense probably damaging 1.00
R8933:Tead1 UTSW 7 112,497,818 (GRCm39) missense probably benign 0.01
R9209:Tead1 UTSW 7 112,475,378 (GRCm39) missense probably damaging 1.00
R9245:Tead1 UTSW 7 112,358,723 (GRCm39) missense probably benign
R9276:Tead1 UTSW 7 112,493,601 (GRCm39) missense probably damaging 1.00
R9380:Tead1 UTSW 7 112,441,105 (GRCm39) missense possibly damaging 0.68
X0028:Tead1 UTSW 7 112,458,323 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- CAGTCTGCTTAGCTGTCACTG -3'
(R):5'- TACACAGGGCATTTCACACAGG -3'

Sequencing Primer
(F):5'- TTAGCTGTCACTGTCCGCAGAAG -3'
(R):5'- GGCATTTCACACAGGTGTAAG -3'
Posted On 2018-05-21