|Institutional Source||Beutler Lab|
|Gene Name||T-box 5|
|Is this an essential gene?||Probably essential (E-score: 0.938)|
|Stock #||R6218 (G1)|
|Chromosomal Location||119832668-119885219 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 119853598 bp|
|Amino Acid Change||Histidine to Tyrosine at position 245 (H245Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018407 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018407]|
|Predicted Effect||probably damaging
AA Change: H245Y
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: H245Y
|Meta Mutation Damage Score||0.2475|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. This gene is closely linked to related family member T-box 3 (ulnar mammary syndrome) on human chromosome 12. The encoded protein may play a role in heart development and specification of limb identity. Mutations in this gene have been associated with Holt-Oram syndrome, a developmental disorder affecting the heart and upper limbs. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Heterozygous null mice exhibit strain-dependent perinatal lethality, forelimb and variable congenital heart malformations, whereas homozygous null mice are growth arrested and die by E10.5 of severe heart defects. Hypomorphic mutants show milder defects both in the hetero- and homozygous null state. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbx5||
(F):5'- TCCTGTCACTGTGATGGCTG -3'
(R):5'- TCCAGATCCTAAGGGTTATGAGAAG -3'
(F):5'- CACTGTGATGGCTGCGTTG -3'
(R):5'- CATGGTGAGACTTGCTTGCAATACC -3'