Incidental Mutation 'IGL02729:Pdx1'
ID305388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pdx1
Ensembl Gene ENSMUSG00000029644
Gene Namepancreatic and duodenal homeobox 1
SynonymsIDX-1, Ipf1, IPF-1, Mody4, pdx-1, STF-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02729
Quality Score
Status
Chromosome5
Chromosomal Location147269959-147275848 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 147274614 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 215 (P215Q)
Ref Sequence ENSEMBL: ENSMUSP00000082729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085591]
Predicted Effect probably benign
Transcript: ENSMUST00000085591
AA Change: P215Q

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000082729
Gene: ENSMUSG00000029644
AA Change: P215Q

DomainStartEndE-ValueType
low complexity region 78 109 N/A INTRINSIC
HOX 147 209 4.67e-27 SMART
low complexity region 211 225 N/A INTRINSIC
low complexity region 236 257 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172461
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201192
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional activator of several genes, including insulin, somatostatin, glucokinase, islet amyloid polypeptide, and glucose transporter type 2. The encoded nuclear protein is involved in the early development of the pancreas and plays a major role in glucose-dependent regulation of insulin gene expression. Defects in this gene are a cause of pancreatic agenesis, which can lead to early-onset insulin-dependent diabetes mellitus (NIDDM), as well as maturity onset diabetes of the young type 4 (MODY4). [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, abnormal pancreatic and liver development, and increased plasma glucose levels. Mice heterozygous for a knock-out allele exhibit abnormal pancreatic development and abnormal glucose homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,280,481 E1358G probably benign Het
Alpk1 T A 3: 127,681,072 L427F possibly damaging Het
Atat1 T C 17: 35,898,391 T326A probably benign Het
Calcr T A 6: 3,707,595 H235L probably benign Het
Cdc16 A G 8: 13,779,250 D512G possibly damaging Het
Cilp G A 9: 65,278,090 R489Q possibly damaging Het
Ddx4 C T 13: 112,651,412 probably benign Het
Dennd1c T C 17: 57,066,637 D612G probably benign Het
Hyal6 A C 6: 24,734,695 Y209S probably damaging Het
Irf4 T C 13: 30,753,591 probably null Het
Itgae T C 11: 73,118,203 probably benign Het
L3mbtl4 C T 17: 68,484,743 T272I probably benign Het
Lyst T C 13: 13,674,339 I2037T possibly damaging Het
Lyst C A 13: 13,746,609 P3380Q possibly damaging Het
Mgat4b A G 11: 50,233,309 I359V probably benign Het
Mybl1 A T 1: 9,672,570 D604E probably benign Het
Myh7b A T 2: 155,625,689 S745C probably damaging Het
Olfr155 C A 4: 43,854,439 N43K probably damaging Het
Olfr51 T C 11: 51,007,065 F31S probably damaging Het
Olfr805 T G 10: 129,723,521 I8L probably benign Het
Pced1a A T 2: 130,421,903 H276Q probably benign Het
Pdzd7 T C 19: 45,045,643 M1V probably null Het
Prrc2b T A 2: 32,208,758 M621K probably damaging Het
Ptprh T G 7: 4,580,874 N240H probably damaging Het
Rsph1 T A 17: 31,273,319 E91V probably damaging Het
Scn1a A G 2: 66,299,650 C1274R probably damaging Het
Skint7 C A 4: 111,982,170 F220L probably benign Het
Skiv2l G A 17: 34,839,605 P1179S possibly damaging Het
Slit1 T A 19: 41,603,334 Y1283F probably damaging Het
Taf1b A G 12: 24,547,625 probably benign Het
Tarsl2 C T 7: 65,682,819 T556M probably damaging Het
Utrn A G 10: 12,720,810 probably benign Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Zfp276 T C 8: 123,267,816 Y541H probably damaging Het
Zfp40 C T 17: 23,178,311 V3I probably damaging Het
Zfp536 T A 7: 37,493,718 H766L probably damaging Het
Zfyve21 A G 12: 111,825,051 I157V probably benign Het
Other mutations in Pdx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01724:Pdx1 APN 5 147274407 missense probably damaging 0.99
R6500:Pdx1 UTSW 5 147270630 missense probably damaging 0.99
R6722:Pdx1 UTSW 5 147270500 missense probably damaging 1.00
R6811:Pdx1 UTSW 5 147274664 missense possibly damaging 0.83
R8253:Pdx1 UTSW 5 147270649 critical splice donor site probably null
Posted On2015-04-16