|Institutional Source||Beutler Lab|
|Gene Name||teashirt zinc finger family member 1|
|Synonyms||Mtsh1, teashirt1, Sdccag33, D18Bwg1409e, Tsh1, NY-CO-33, 5730407I04Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7165 (G1)|
|Chromosomal Location||84011627-84086404 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 84015927 bp (GRCm38)|
|Amino Acid Change||Valine to Leucine at position 119 (V119L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089388 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060303]|
AA Change: V119L
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: V119L
|Coding Region Coverage||
|Validation Efficiency||98% (79/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulation of developmental processes. Mutations in this gene may be associated with congenital aural atresia syndrome. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null allele die shortly after birth of respiratory distress, have defects in soft palate formation, have altered axial skeleton and have middle ear defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tshz1||
(F):5'- TATTCTGTCGGTAGAGCTGCAC -3'
(R):5'- AGCTATCAGAACTCCCCTGTC -3'
(F):5'- TAGAGCTGCACGGTGCTGAAC -3'
(R):5'- GAACTCCCCTGTCAGCACTG -3'