|Institutional Source||Beutler Lab|
|Gene Name||pancreas specific transcription factor, 1a|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7082 (G1)|
|Chromosomal Location||19445663-19447501 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 19445865 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 2 (D2G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028068 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028068]|
|Predicted Effect||possibly damaging
AA Change: D2G
PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)
AA Change: D2G
|Coding Region Coverage||
|Validation Efficiency||100% (88/88)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show neonatal death, exocrine pancreas and cerebellum agenesis, hypoglycemia and relocation of endocrine cells to the spleen. Knock-in mutations can lead to neonatal death, absent pancreas, altered GABAergic neuronal fate and retinal dysplasia due to misspecified retinal precursors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ptf1a||
(F):5'- ATAAGAATCCTCGCGTGCCG -3'
(R):5'- CGGTAGCAGTATTCGTGTAGC -3'
(F):5'- TCCAGCAAGCGGGTACTATC -3'
(R):5'- GCTGGTGGCTGAGGAAC -3'