Incidental Mutation 'IGL03153:Ptf1a'
ID411175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ptf1a
Ensembl Gene ENSMUSG00000026735
Gene Namepancreas specific transcription factor, 1a
SynonymsPTF1-p48, bHLHa29
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03153
Quality Score
Status
Chromosome2
Chromosomal Location19445663-19447501 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 19446645 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
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: 62,547,326 E419G possibly damaging Het
Abcg3 A G 5: 104,974,765 probably benign Het
Adam17 T C 12: 21,345,697 D256G probably damaging Het
Adgrb3 G A 1: 25,531,897 R500* probably null Het
Aldh3a2 A G 11: 61,258,839 Y234H probably damaging Het
Alpk3 A G 7: 81,093,395 T987A probably benign Het
Amtn A G 5: 88,384,969 K148E possibly damaging Het
Asap1 G A 15: 64,160,274 T237M probably damaging Het
Ccdc124 A T 8: 70,868,929 probably null Het
Cdon T C 9: 35,477,959 Y787H probably damaging Het
Coro7 A G 16: 4,635,382 probably null Het
Dram2 T A 3: 106,555,174 probably benign Het
Drd5 T C 5: 38,319,781 V39A probably benign Het
Ern1 A G 11: 106,410,098 L490P possibly damaging Het
Fat1 A G 8: 45,030,123 T3083A possibly damaging Het
Irgm1 A G 11: 48,866,267 I239T probably damaging Het
Klhl10 A T 11: 100,456,932 T605S probably benign Het
Lcor T A 19: 41,558,356 S126R probably damaging Het
Lgi4 G T 7: 31,060,558 V60F probably damaging Het
Lin37 G A 7: 30,557,160 R84W probably damaging Het
Lmf1 A G 17: 25,585,650 S97G possibly damaging Het
Oasl2 A G 5: 114,901,332 T194A probably benign Het
Olfr199 A G 16: 59,216,203 S137P probably benign Het
Pnpo A T 11: 96,943,835 F12I probably damaging Het
Prdm4 T C 10: 85,907,996 T132A probably benign Het
Ptbp2 T C 3: 119,751,944 T118A probably benign Het
Rev3l T A 10: 39,806,878 F331I probably damaging Het
Rfx6 C A 10: 51,723,121 S524* probably null Het
Scube3 A G 17: 28,167,058 S758G possibly damaging Het
Slc44a2 T C 9: 21,343,200 I257T probably benign Het
Spon1 A T 7: 114,030,344 I408F probably damaging Het
Srpk1 C A 17: 28,592,266 D541Y possibly damaging Het
Tenm4 A T 7: 96,873,762 I1467F probably damaging Het
Tex33 T C 15: 78,385,316 D188G probably damaging Het
Uggt1 A C 1: 36,202,818 V345G possibly damaging Het
Vmn1r23 A T 6: 57,925,932 I287K probably damaging Het
Whamm A G 7: 81,589,532 probably benign Het
Zeb1 A G 18: 5,770,511 D888G probably damaging Het
Zfp263 A G 16: 3,746,880 N253S possibly damaging Het
Zfp446 C A 7: 12,977,907 A19E probably benign Het
Other mutations in Ptf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptf1a APN 2 19446618 missense probably damaging 1.00
IGL01934:Ptf1a APN 2 19446620 missense possibly damaging 0.60
R3236:Ptf1a UTSW 2 19445907 missense probably damaging 1.00
R4170:Ptf1a UTSW 2 19447008 missense possibly damaging 0.95
R4451:Ptf1a UTSW 2 19446281 missense possibly damaging 0.71
R4452:Ptf1a UTSW 2 19446281 missense possibly damaging 0.71
R4788:Ptf1a UTSW 2 19445951 missense probably benign 0.05
R5533:Ptf1a UTSW 2 19447158 missense probably damaging 1.00
R6513:Ptf1a UTSW 2 19447037 missense probably damaging 1.00
R7082:Ptf1a UTSW 2 19445865 missense possibly damaging 0.73
R7342:Ptf1a UTSW 2 19447166 makesense probably null
Posted On2016-08-02