Incidental Mutation 'IGL01934:Ptf1a'
ID180556
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 #IGL01934
Quality Score
Status
Chromosome2
Chromosomal Location19445663-19447501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 19446620 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 254 (C254S)
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028068
AA Change: C254S

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: C254S

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,585,655 K362E probably damaging Het
4932438H23Rik T A 16: 91,055,865 T128S probably damaging Het
Aars T A 8: 111,048,018 I593N probably damaging Het
Abca6 A T 11: 110,188,655 N1224K probably benign Het
Abcc5 A T 16: 20,422,441 probably benign Het
Adam7 A G 14: 68,532,599 L35P probably damaging Het
Ahnak T A 19: 9,002,657 L435Q probably damaging Het
Ankef1 A G 2: 136,552,531 E620G possibly damaging Het
Ap3d1 A T 10: 80,709,258 L1082* probably null Het
Atp6v0a4 T A 6: 38,051,546 I712F possibly damaging Het
Bco1 T A 8: 117,096,045 F5L possibly damaging Het
Cacna2d4 A T 6: 119,308,768 S794C probably damaging Het
Camk2d T C 3: 126,834,655 probably null Het
Capn15 T C 17: 25,963,024 T604A probably damaging Het
Cd180 A T 13: 102,702,858 D83V probably damaging Het
Ces1a C A 8: 93,032,650 R286L probably damaging Het
Col6a6 A G 9: 105,698,659 probably null Het
Crnkl1 A G 2: 145,931,282 V148A probably benign Het
Epas1 A T 17: 86,823,729 K312N probably damaging Het
Fbxw2 T C 2: 34,822,606 S148G probably damaging Het
Fig4 T C 10: 41,228,112 T791A probably benign Het
Galnt9 A T 5: 110,602,636 I340F possibly damaging Het
Gfap G A 11: 102,894,460 A230V probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm454 T C 5: 138,207,162 noncoding transcript Het
Il24 A T 1: 130,883,877 L115Q probably damaging Het
Ipp C A 4: 116,510,655 N28K probably damaging Het
Kalrn A T 16: 34,198,512 probably null Het
Klf10 C T 15: 38,297,284 V171M probably benign Het
Man1b1 T C 2: 25,345,511 S350P probably benign Het
Mfsd4a T C 1: 132,046,311 Y343C probably damaging Het
Mrpl58 C A 11: 115,410,729 probably benign Het
Myo7b A G 18: 32,001,341 probably null Het
Nbas T C 12: 13,289,879 probably benign Het
Nisch A G 14: 31,176,739 probably benign Het
Olfr494 A G 7: 108,368,161 I224V probably damaging Het
Olfr619 T C 7: 103,603,975 F107S probably damaging Het
Olfr97 A T 17: 37,231,548 V274D probably damaging Het
Parva T A 7: 112,588,553 C352* probably null Het
R3hdm1 G T 1: 128,236,535 R1062L probably benign Het
Rnf44 A G 13: 54,681,950 V407A probably damaging Het
Shank3 T C 15: 89,549,846 L1598P probably damaging Het
Slit2 T C 5: 48,238,405 S717P possibly damaging Het
Svs1 A T 6: 48,988,761 I568F probably damaging Het
Tdpoz4 A G 3: 93,797,472 K359E probably damaging Het
Tmtc4 A T 14: 122,927,635 L604* probably null Het
Tnfrsf21 A T 17: 43,065,187 N488I probably benign Het
Tnfsf8 A G 4: 63,834,510 probably benign Het
Tnpo3 A T 6: 29,575,020 L382M probably benign Het
Tut1 T C 19: 8,953,991 C18R probably damaging Het
Ugt8a A G 3: 125,914,775 S229P probably benign Het
Usp22 T C 11: 61,155,288 E476G probably damaging Het
Vill G T 9: 119,066,809 A146S probably damaging Het
Vmn1r178 T C 7: 23,893,937 Y137H probably damaging Het
Wdfy1 A T 1: 79,740,116 W51R probably damaging Het
Zc3hav1 A T 6: 38,319,833 probably null Het
Zfp236 A T 18: 82,633,120 V889E probably damaging Het
Zscan20 T C 4: 128,592,484 D141G possibly damaging Het
Other mutations in Ptf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Ptf1a APN 2 19446618 missense probably damaging 1.00
IGL03153:Ptf1a APN 2 19446645 splice site probably benign
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
R8215:Ptf1a UTSW 2 19445949 missense possibly damaging 0.88
R8394:Ptf1a UTSW 2 19445935 missense probably damaging 1.00
Posted On2014-05-07