|Institutional Source||Beutler Lab|
|Gene Name||T-box 20|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6914 (G1)|
|Chromosomal Location||24718138-24774303 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 24725483 bp|
|Amino Acid Change||Histidine to Arginine at position 436 (H436R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000052591 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052946]|
|Predicted Effect||probably benign
AA Change: H436R
PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: H436R
|Meta Mutation Damage Score||0.1096|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
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||
|Other mutations in Tbx20||
(F):5'- GTGTTTTGCGAGTCCAGCTC -3'
(R):5'- GTACCAGTACAGCATCCATAGCG -3'
(F):5'- GCGAGTCCAGCTCTCCTC -3'
(R):5'- TCCATAGCGACACCGATTC -3'