|Institutional Source||Beutler Lab|
|Gene Name||teashirt zinc finger family member 3|
|Synonyms||Tsh3, teashirt3, A630038G13Rik, Zfp537|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2404 (G1)|
|Chromosomal Location||36698118-36773553 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 36770380 bp|
|Amino Acid Change||Glutamine to Leucine at position 598 (Q598L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021641 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021641]|
|Predicted Effect||probably damaging
AA Change: Q598L
PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: Q598L
|Meta Mutation Damage Score||0.0715|
|Coding Region Coverage||
|Validation Efficiency||98% (52/53)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc-finger transcription factor that regulates smooth muscle cell differentiation in the developing urinary tract. Consistent with this role, mice in which this gene has been inactivated exhibit abnormal gene expression in urinary tract smooth muscle cell precursors and kidney defects including hydronephrosis. The encoded transcription factor comprises a gene silencing complex that inhibits caspase expression. Reduced expression of this gene and consequent caspase upregulation may be correlated with progression of Alzheimer's disease in human patients. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit neoatal lethality likely due to respiratory distress and hydroureter and hydronephrosis associated with impaired development of ureteric smooth muscle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tshz3||
(F):5'- ACAAGGCTCAGAATGGCACTC -3'
(R):5'- TCCTGACTTTTGAAGCTGCC -3'
(F):5'- TGATGAAGTTGTCCCTGG -3'
(R):5'- GACTTTTGAAGCTGCCGTCGC -3'