Incidental Mutation 'IGL00332:Tbx20'
ID4923
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 #IGL00332
Quality Score
Status
Chromosome9
Chromosomal Location24718138-24774303 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24758748 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 91 (V91A)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052946] [ENSMUST00000166018]
Predicted Effect probably damaging
Transcript: ENSMUST00000052946
AA Change: V263A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052591
Gene: ENSMUSG00000031965
AA Change: V263A

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: V263A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000126318
Gene: ENSMUSG00000031965
AA Change: V263A

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 probably damaging
Transcript: ENSMUST00000215802
AA Change: V91A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216564
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Katna1 T C 10: 7,762,994 probably benign Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Tbx20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Tbx20 APN 9 24725688 missense probably benign
IGL01016:Tbx20 APN 9 24750321 missense probably damaging 1.00
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
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 intron probably null
R7731:Tbx20 UTSW 9 24770697 missense probably damaging 1.00
Posted On2012-04-20