Incidental Mutation 'IGL00493:Tead3'
ID3888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tead3
Ensembl Gene ENSMUSG00000002249
Gene NameTEA domain family member 3
SynonymsDTEF-1, TEF-5, Tcf13r2, ETFR-1, TEAD-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00493
Quality Score
Status
Chromosome17
Chromosomal Location28331671-28350805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28332806 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 438 (T438A)
Ref Sequence ENSEMBL: ENSMUSP00000110447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042334] [ENSMUST00000114799] [ENSMUST00000129935] [ENSMUST00000154873] [ENSMUST00000156862] [ENSMUST00000219703]
Predicted Effect probably benign
Transcript: ENSMUST00000042334
SMART Domains Protein: ENSMUSP00000048469
Gene: ENSMUSG00000037805

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 12 213 3.5e-49 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000080572
AA Change: T412A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079410
Gene: ENSMUSG00000002249
AA Change: T412A

DomainStartEndE-ValueType
TEA 26 97 9.04e-52 SMART
low complexity region 124 139 N/A INTRINSIC
low complexity region 155 176 N/A INTRINSIC
low complexity region 182 196 N/A INTRINSIC
low complexity region 201 218 N/A INTRINSIC
PDB:3KYS|C 222 439 1e-121 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000114799
AA Change: T438A

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110447
Gene: ENSMUSG00000002249
AA Change: T438A

DomainStartEndE-ValueType
low complexity region 8 19 N/A INTRINSIC
TEA 52 123 9.04e-52 SMART
low complexity region 150 165 N/A INTRINSIC
low complexity region 181 202 N/A INTRINSIC
low complexity region 208 222 N/A INTRINSIC
low complexity region 227 244 N/A INTRINSIC
PDB:3KYS|C 248 465 1e-120 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127212
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128758
Predicted Effect probably benign
Transcript: ENSMUST00000129935
SMART Domains Protein: ENSMUSP00000114141
Gene: ENSMUSG00000037805

DomainStartEndE-ValueType
Pfam:Ribosomal_L1 3 57 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150103
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152665
Predicted Effect possibly damaging
Transcript: ENSMUST00000154873
AA Change: T347A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118582
Gene: ENSMUSG00000002249
AA Change: T347A

DomainStartEndE-ValueType
Pfam:TEA 1 366 3.8e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000156862
AA Change: T347A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115443
Gene: ENSMUSG00000002249
AA Change: T347A

DomainStartEndE-ValueType
Pfam:TEA 1 366 3.8e-149 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000219703
AA Change: T412A

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226172
Coding Region Coverage
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 predominantly expressed in the placenta and thought to play a role in placental gene regulation and development. Alternative splicing, and alternate use of an upstream AUG translation initiation codon, and an in-frame downstream non-AUG (AUA) codon, results in 2 isoforms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310035C23Rik A G 1: 105,696,599 probably benign Het
4930415O20Rik T C 15: 98,588,544 probably benign Het
Adarb2 A G 13: 8,701,725 T509A probably benign Het
Arhgap23 T C 11: 97,446,553 probably null Het
Astn1 A T 1: 158,600,319 I687F possibly damaging Het
Atg4d T C 9: 21,266,921 F112L probably damaging Het
Cd200 T A 16: 45,397,046 D94V probably damaging Het
Cfap46 T C 7: 139,614,443 K2285R probably benign Het
Clhc1 T A 11: 29,571,745 I426N probably damaging Het
Cnnm2 T A 19: 46,763,220 V483E probably damaging Het
Dlc1 A T 8: 36,570,282 probably benign Het
Fpgs T C 2: 32,687,997 I138V possibly damaging Het
Gpr152 T C 19: 4,143,507 V349A probably benign Het
Hk1 C A 10: 62,286,348 E523* probably null Het
Krt6a T G 15: 101,692,794 K241N probably damaging Het
Mcm3ap A G 10: 76,471,177 S375G probably benign Het
Meikin C T 11: 54,398,494 P231L probably damaging Het
Micall1 G A 15: 79,115,021 probably benign Het
Mvk G A 5: 114,445,441 V14I probably benign Het
Myo6 C T 9: 80,292,472 S1021L probably damaging Het
N4bp2l2 G A 5: 150,661,936 T193M probably benign Het
Naip5 G T 13: 100,230,771 D272E probably damaging Het
Nptn T A 9: 58,643,639 N316K probably damaging Het
Pde6c T C 19: 38,162,876 probably benign Het
Prg4 T A 1: 150,451,920 I850L probably damaging Het
Rdm1 T G 11: 101,635,754 C251G possibly damaging Het
Rps6kl1 G A 12: 85,139,383 P291L probably benign Het
Sel1l A G 12: 91,814,613 probably benign Het
Serpinb1b T C 13: 33,093,867 F361S probably damaging Het
Sirpb1a G A 3: 15,410,728 probably benign Het
Smpd1 T G 7: 105,556,641 V405G probably damaging Het
St5 G A 7: 109,527,708 A932V possibly damaging Het
Treh A T 9: 44,683,900 D89V probably damaging Het
Trim10 A T 17: 36,877,248 H452L probably benign Het
Ttc30a1 C A 2: 75,981,741 probably benign Het
Ugt2b1 A G 5: 86,925,958 C181R probably benign Het
Uhrf1bp1l A C 10: 89,779,984 D163A probably damaging Het
Xdh A T 17: 73,923,106 F277I possibly damaging Het
Zswim4 T G 8: 84,212,140 T1038P probably damaging Het
Other mutations in Tead3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01752:Tead3 APN 17 28333594 missense probably damaging 1.00
IGL01760:Tead3 APN 17 28333081 missense probably benign 0.07
IGL02868:Tead3 APN 17 28333095 nonsense probably null
IGL02932:Tead3 APN 17 28341351 missense probably damaging 1.00
R0015:Tead3 UTSW 17 28341351 missense probably damaging 1.00
R0376:Tead3 UTSW 17 28341365 missense probably damaging 0.98
R0383:Tead3 UTSW 17 28334698 splice site probably null
R1203:Tead3 UTSW 17 28341562 missense probably benign 0.06
R1699:Tead3 UTSW 17 28334724 missense possibly damaging 0.52
R2037:Tead3 UTSW 17 28336570 missense probably damaging 0.98
R2148:Tead3 UTSW 17 28333664 missense probably damaging 1.00
R4871:Tead3 UTSW 17 28333615 missense probably damaging 1.00
R4871:Tead3 UTSW 17 28334988 missense probably benign 0.42
R5070:Tead3 UTSW 17 28341477 missense probably benign 0.06
R5557:Tead3 UTSW 17 28336270 intron probably benign
R5891:Tead3 UTSW 17 28341365 missense probably damaging 0.98
R5991:Tead3 UTSW 17 28334378 splice site probably null
R6335:Tead3 UTSW 17 28333325 missense probably damaging 1.00
R6999:Tead3 UTSW 17 28341532 missense probably benign 0.00
R7165:Tead3 UTSW 17 28333254 missense probably benign 0.00
R7718:Tead3 UTSW 17 28333517 missense probably damaging 1.00
R7743:Tead3 UTSW 17 28332827 missense probably benign 0.06
R8025:Tead3 UTSW 17 28335035 missense probably benign 0.23
R8034:Tead3 UTSW 17 28333229 missense probably damaging 1.00
X0066:Tead3 UTSW 17 28341427 missense probably damaging 1.00
Posted On2012-04-20