Incidental Mutation 'IGL01016:Tbx20'
ID53774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tbx20
Ensembl Gene ENSMUSG00000031965
Gene NameT-box 20
SynonymsTbx12, 9430010M06Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01016
Quality Score
Status
Chromosome9
Chromosomal Location24718138-24774303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24750321 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 293 (D293G)
Ref Sequence ENSEMBL: ENSMUSP00000126318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052946] [ENSMUST00000166018]
Predicted Effect probably damaging
Transcript: ENSMUST00000052946
AA Change: D293G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: D293G

DomainStartEndE-ValueType
low complexity region 68 78 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
TBOX 98 292 1.08e-122 SMART
low complexity region 339 353 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166018
AA Change: D293G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: D293G

DomainStartEndE-ValueType
low complexity region 68 78 N/A INTRINSIC
low complexity region 81 95 N/A INTRINSIC
TBOX 98 292 1.08e-122 SMART
Predicted Effect unknown
Transcript: ENSMUST00000215802
AA Change: D121G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217597
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality, impaired cardiac looping, a small hourglass shaped heart, and decreased cardiomyocyte proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cdh7 G A 1: 110,108,956 probably null Het
Dennd1c T C 17: 57,066,839 I575V probably damaging Het
Focad G A 4: 88,392,015 V1394I possibly damaging Het
Gldc G A 19: 30,133,493 S570F possibly damaging Het
Gm12695 T A 4: 96,757,947 Y286F probably benign Het
Grid1 C T 14: 34,822,639 Q56* probably null Het
Il7r A T 15: 9,510,208 V253E probably damaging Het
Iqgap3 T C 3: 88,107,560 L861P probably damaging Het
Kcnc3 C T 7: 44,595,386 R367W probably damaging Het
Lipt1 T C 1: 37,875,183 Y107H probably damaging Het
Mep1a T C 17: 43,479,084 E445G probably benign Het
Mpo A G 11: 87,797,610 probably null Het
Nme5 T C 18: 34,578,659 probably null Het
Olfr281 T A 15: 98,456,305 probably benign Het
Olfr666 A T 7: 104,893,036 N197K probably damaging Het
Olfr921 T A 9: 38,775,441 F62Y probably damaging Het
Papolg A T 11: 23,885,570 N83K possibly damaging Het
Picalm A T 7: 90,161,318 D111V probably damaging Het
Ppargc1a T A 5: 51,498,031 probably null Het
Rnh1 G T 7: 141,164,496 probably benign Het
Rpgrip1 T C 14: 52,145,836 Y576H probably damaging Het
Sobp T A 10: 43,022,878 Y237F probably damaging Het
Spink5 T C 18: 44,007,644 Y637H probably damaging Het
St18 G T 1: 6,844,323 G797V probably damaging Het
Tcl1b1 A T 12: 105,164,404 R49* probably null Het
Tnfsf13b A G 8: 10,031,612 Q258R probably damaging Het
Vmn1r223 A T 13: 23,250,067 Y277F probably damaging Het
Wdr62 T C 7: 30,254,251 T146A probably benign Het
Zfp236 G A 18: 82,668,690 A241V probably benign Het
Zfp318 T C 17: 46,400,077 S909P probably damaging Het
Other mutations in Tbx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Tbx20 APN 9 24758748 missense probably damaging 1.00
IGL00572:Tbx20 APN 9 24725688 missense probably benign
IGL01317:Tbx20 APN 9 24769755 missense probably damaging 1.00
IGL02643:Tbx20 APN 9 24773713 unclassified probably benign
IGL02690:Tbx20 APN 9 24773737 missense probably benign 0.27
BB006:Tbx20 UTSW 9 24725763 missense possibly damaging 0.86
BB016:Tbx20 UTSW 9 24725763 missense possibly damaging 0.86
R0853:Tbx20 UTSW 9 24725612 missense probably benign 0.05
R0855:Tbx20 UTSW 9 24725612 missense probably benign 0.05
R0856:Tbx20 UTSW 9 24725612 missense probably benign 0.05
R1781:Tbx20 UTSW 9 24725499 missense probably benign 0.00
R1840:Tbx20 UTSW 9 24725676 missense probably benign 0.22
R1981:Tbx20 UTSW 9 24770913 missense possibly damaging 0.85
R2063:Tbx20 UTSW 9 24769771 nonsense probably null
R2357:Tbx20 UTSW 9 24769776 missense possibly damaging 0.56
R4166:Tbx20 UTSW 9 24769744 missense probably damaging 1.00
R4790:Tbx20 UTSW 9 24725714 missense probably benign 0.34
R4904:Tbx20 UTSW 9 24758833 missense probably damaging 0.98
R5436:Tbx20 UTSW 9 24769720 missense probably damaging 1.00
R5799:Tbx20 UTSW 9 24725520 nonsense probably null
R5898:Tbx20 UTSW 9 24758859 missense probably damaging 1.00
R6914:Tbx20 UTSW 9 24725483 missense probably benign 0.19
R6962:Tbx20 UTSW 9 24769740 missense probably damaging 1.00
R7556:Tbx20 UTSW 9 24750277 splice site probably null
R7731:Tbx20 UTSW 9 24770697 missense probably damaging 1.00
R7741:Tbx20 UTSW 9 24740285 splice site probably null
R7832:Tbx20 UTSW 9 24773812 missense probably damaging 1.00
R7929:Tbx20 UTSW 9 24725763 missense possibly damaging 0.86
R7982:Tbx20 UTSW 9 24773924 unclassified probably benign
R8110:Tbx20 UTSW 9 24725525 missense probably damaging 1.00
Posted On2013-06-28