Incidental Mutation 'IGL01295:Ptf1a'
ID 73059
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 # IGL01295
Quality Score
Status
Chromosome 2
Chromosomal Location 19450474-19452312 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19451429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 253 (I253T)
Ref Sequence ENSEMBL: ENSMUSP00000028068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028068]
AlphaFold Q9QX98
Predicted Effect probably damaging
Transcript: ENSMUST00000028068
AA Change: I253T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028068
Gene: ENSMUSG00000026735
AA Change: I253T

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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik G T 14: 32,383,893 (GRCm39) L691I possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Apol10b A T 15: 77,469,796 (GRCm39) V127E probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Atn1 T C 6: 124,726,239 (GRCm39) E80G probably damaging Het
Carmil2 T C 8: 106,422,148 (GRCm39) M1139T probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Celf5 G T 10: 81,302,914 (GRCm39) probably benign Het
Chd6 G A 2: 160,830,290 (GRCm39) probably benign Het
Col12a1 A T 9: 79,551,208 (GRCm39) V2136E probably damaging Het
Col4a1 G T 8: 11,286,075 (GRCm39) probably benign Het
Dph1 A G 11: 75,071,775 (GRCm39) probably benign Het
Dvl2 G T 11: 69,900,410 (GRCm39) V735F possibly damaging Het
Eif3b A G 5: 140,427,495 (GRCm39) I709V possibly damaging Het
Elp5 C T 11: 69,859,296 (GRCm39) probably benign Het
Exd1 A T 2: 119,360,560 (GRCm39) probably benign Het
Fbxl4 C A 4: 22,427,348 (GRCm39) R530S probably benign Het
Fmo4 A T 1: 162,626,693 (GRCm39) D284E probably damaging Het
Fn3krp A G 11: 121,312,380 (GRCm39) Y31C probably damaging Het
Galnt14 G T 17: 73,811,914 (GRCm39) Q436K probably benign Het
Gm5114 A T 7: 39,057,241 (GRCm39) W793R probably damaging Het
Gm9376 T G 14: 118,505,059 (GRCm39) S164A possibly damaging Het
Gtf2ird2 G A 5: 134,221,603 (GRCm39) D69N probably damaging Het
Hfm1 A C 5: 107,065,472 (GRCm39) M69R possibly damaging Het
Ighv9-1 A C 12: 114,057,619 (GRCm39) S94A probably damaging Het
Ikzf2 C T 1: 69,617,146 (GRCm39) R67H probably benign Het
Ipcef1 A T 10: 6,850,642 (GRCm39) F316L probably damaging Het
Kdsr A G 1: 106,683,187 (GRCm39) V62A possibly damaging Het
Kif23 A T 9: 61,839,411 (GRCm39) C279S possibly damaging Het
Klf5 C T 14: 99,539,157 (GRCm39) T110I probably benign Het
Klhl25 T A 7: 75,515,620 (GRCm39) H175Q probably benign Het
Malrd1 G A 2: 16,106,768 (GRCm39) probably null Het
Nfatc4 T C 14: 56,069,962 (GRCm39) V710A probably benign Het
Optn G A 2: 5,037,967 (GRCm39) T409I possibly damaging Het
Or10j3b A T 1: 173,043,440 (GRCm39) Y74F probably damaging Het
Or52a5 C T 7: 103,427,448 (GRCm39) V35I probably benign Het
Pabpc2 T A 18: 39,907,082 (GRCm39) Y116N probably damaging Het
Pafah1b1 G T 11: 74,574,473 (GRCm39) R238S probably damaging Het
Pdzd9 C T 7: 120,267,618 (GRCm39) G66R probably damaging Het
Pih1d1 T C 7: 44,809,388 (GRCm39) L285P probably damaging Het
Pirb G A 7: 3,720,405 (GRCm39) P323S probably damaging Het
Pkd1l1 A G 11: 8,883,685 (GRCm39) F396L possibly damaging Het
Pla2g4d G A 2: 120,112,207 (GRCm39) T108M probably damaging Het
Plin3 T C 17: 56,586,814 (GRCm39) Y411C probably damaging Het
Ppfibp2 T C 7: 107,346,746 (GRCm39) probably benign Het
Prrc2c T C 1: 162,510,061 (GRCm39) S995G probably damaging Het
Ptprb A G 10: 116,198,553 (GRCm39) I1684V probably benign Het
Ptprk G A 10: 28,351,174 (GRCm39) V556I probably benign Het
Rffl A T 11: 82,709,283 (GRCm39) C47S probably damaging Het
Rnf17 C T 14: 56,700,521 (GRCm39) Q569* probably null Het
Shprh A G 10: 11,059,612 (GRCm39) E1121G probably damaging Het
Slc1a5 A G 7: 16,529,787 (GRCm39) D402G probably damaging Het
Slc24a3 G A 2: 145,458,634 (GRCm39) probably null Het
Slc2a13 T A 15: 91,234,335 (GRCm39) probably null Het
Slc30a8 A T 15: 52,169,955 (GRCm39) N61Y possibly damaging Het
Slitrk6 A T 14: 110,988,868 (GRCm39) S280T possibly damaging Het
Smad2 G A 18: 76,435,501 (GRCm39) A365T probably benign Het
Tcp10b C T 17: 13,299,047 (GRCm39) P367S probably damaging Het
Tdp1 A G 12: 99,857,929 (GRCm39) N163D probably benign Het
Thbs1 A G 2: 117,948,808 (GRCm39) D488G possibly damaging Het
Trappc12 C T 12: 28,796,761 (GRCm39) S257N probably damaging Het
Treml1 T C 17: 48,672,627 (GRCm39) probably benign Het
Ugt2b36 A G 5: 87,228,744 (GRCm39) V234A probably damaging Het
Vmn2r86 T G 10: 130,288,895 (GRCm39) H202P probably damaging Het
Vmn2r87 C A 10: 130,307,878 (GRCm39) V787F probably damaging Het
Wbp2nl T A 15: 82,190,619 (GRCm39) M129K probably damaging Het
Zdhhc15 T C X: 103,588,519 (GRCm39) probably null Het
Other mutations in Ptf1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01934:Ptf1a APN 2 19,451,431 (GRCm39) missense possibly damaging 0.60
IGL03153:Ptf1a APN 2 19,451,456 (GRCm39) splice site probably benign
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 2013-10-07