Incidental Mutation 'IGL03153:Ptf1a'
ID 411175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptf1a
Ensembl Gene ENSMUSG00000026735
Gene Name pancreas specific transcription factor, 1a
Synonyms bHLHa29, PTF1-p48
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03153
Quality Score
Status
Chromosome 2
Chromosomal Location 19450474-19452312 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 19451456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
AlphaFold Q9QX98
Predicted Effect probably benign
Transcript: ENSMUST00000028068
SMART Domains Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735

DomainStartEndE-ValueType
low complexity region 66 86 N/A INTRINSIC
low complexity region 131 151 N/A INTRINSIC
HLH 166 218 6.65e-20 SMART
low complexity region 221 240 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122978
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A G 4: 62,465,563 (GRCm39) E419G possibly damaging Het
Abcg3 A G 5: 105,122,631 (GRCm39) probably benign Het
Adam17 T C 12: 21,395,698 (GRCm39) D256G probably damaging Het
Adgrb3 G A 1: 25,570,978 (GRCm39) R500* probably null Het
Aldh3a2 A G 11: 61,149,665 (GRCm39) Y234H probably damaging Het
Alpk3 A G 7: 80,743,143 (GRCm39) T987A probably benign Het
Amtn A G 5: 88,532,828 (GRCm39) K148E possibly damaging Het
Asap1 G A 15: 64,032,123 (GRCm39) T237M probably damaging Het
Ccdc124 A T 8: 71,321,573 (GRCm39) probably null Het
Cdon T C 9: 35,389,255 (GRCm39) Y787H probably damaging Het
Cimip4 T C 15: 78,269,516 (GRCm39) D188G probably damaging Het
Coro7 A G 16: 4,453,246 (GRCm39) probably null Het
Dram2 T A 3: 106,462,490 (GRCm39) probably benign Het
Drd5 T C 5: 38,477,124 (GRCm39) V39A probably benign Het
Ern1 A G 11: 106,300,924 (GRCm39) L490P possibly damaging Het
Fat1 A G 8: 45,483,160 (GRCm39) T3083A possibly damaging Het
Irgm1 A G 11: 48,757,094 (GRCm39) I239T probably damaging Het
Klhl10 A T 11: 100,347,758 (GRCm39) T605S probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Lgi4 G T 7: 30,759,983 (GRCm39) V60F probably damaging Het
Lin37 G A 7: 30,256,585 (GRCm39) R84W probably damaging Het
Lmf1 A G 17: 25,804,624 (GRCm39) S97G possibly damaging Het
Oasl2 A G 5: 115,039,393 (GRCm39) T194A probably benign Het
Or5ac17 A G 16: 59,036,566 (GRCm39) S137P probably benign Het
Pnpo A T 11: 96,834,661 (GRCm39) F12I probably damaging Het
Prdm4 T C 10: 85,743,860 (GRCm39) T132A probably benign Het
Ptbp2 T C 3: 119,545,593 (GRCm39) T118A probably benign Het
Rev3l T A 10: 39,682,874 (GRCm39) F331I probably damaging Het
Rfx6 C A 10: 51,599,217 (GRCm39) S524* probably null Het
Scube3 A G 17: 28,386,032 (GRCm39) S758G possibly damaging Het
Slc44a2 T C 9: 21,254,496 (GRCm39) I257T probably benign Het
Spon1 A T 7: 113,629,579 (GRCm39) I408F probably damaging Het
Srpk1 C A 17: 28,811,240 (GRCm39) D541Y possibly damaging Het
Tenm4 A T 7: 96,522,969 (GRCm39) I1467F probably damaging Het
Uggt1 A C 1: 36,241,899 (GRCm39) V345G possibly damaging Het
Vmn1r23 A T 6: 57,902,917 (GRCm39) I287K probably damaging Het
Whamm A G 7: 81,239,280 (GRCm39) probably benign Het
Zeb1 A G 18: 5,770,511 (GRCm39) D888G probably damaging Het
Zfp263 A G 16: 3,564,744 (GRCm39) N253S possibly damaging Het
Zfp446 C A 7: 12,711,834 (GRCm39) A19E probably benign Het
Other mutations in Ptf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptf1a APN 2 19,451,429 (GRCm39) missense probably damaging 1.00
IGL01934:Ptf1a APN 2 19,451,431 (GRCm39) missense possibly damaging 0.60
R3236:Ptf1a UTSW 2 19,450,718 (GRCm39) missense probably damaging 1.00
R4170:Ptf1a UTSW 2 19,451,819 (GRCm39) missense possibly damaging 0.95
R4451:Ptf1a UTSW 2 19,451,092 (GRCm39) missense possibly damaging 0.71
R4452:Ptf1a UTSW 2 19,451,092 (GRCm39) missense possibly damaging 0.71
R4788:Ptf1a UTSW 2 19,450,762 (GRCm39) missense probably benign 0.05
R5533:Ptf1a UTSW 2 19,451,969 (GRCm39) missense probably damaging 1.00
R6513:Ptf1a UTSW 2 19,451,848 (GRCm39) missense probably damaging 1.00
R7082:Ptf1a UTSW 2 19,450,676 (GRCm39) missense possibly damaging 0.73
R7342:Ptf1a UTSW 2 19,451,977 (GRCm39) makesense probably null
R8215:Ptf1a UTSW 2 19,450,760 (GRCm39) missense possibly damaging 0.88
R8394:Ptf1a UTSW 2 19,450,746 (GRCm39) missense probably damaging 1.00
R9037:Ptf1a UTSW 2 19,451,036 (GRCm39) missense possibly damaging 0.90
R9178:Ptf1a UTSW 2 19,450,536 (GRCm39) start gained probably benign
R9766:Ptf1a UTSW 2 19,451,062 (GRCm39) missense probably benign 0.18
R9784:Ptf1a UTSW 2 19,451,381 (GRCm39) missense probably benign
Posted On 2016-08-02