|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 #||R4031 (G1)|
|Chromosomal Location||84011627-84086404 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 84014829 bp|
|Amino Acid Change||Lysine to Glutamic Acid at position 485 (K485E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089388 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060303]|
|Predicted Effect||possibly damaging
AA Change: K485E
PolyPhen 2 Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: K485E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0611|
|Coding Region Coverage||
|Validation Efficiency||95% (52/55)|
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'- AGGATATCTACTCCTCCCTTGG -3'
(R):5'- CCATGATACCTTGCAGCAGC -3'
(F):5'- AGGTCTTCCTCACGCAGGTAC -3'
(R):5'- TTGCAGCAGCTCACAGC -3'