Incidental Mutation 'IGL02334:Sct'
ID 288814
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sct
Ensembl Gene ENSMUSG00000038580
Gene Name secretin
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # IGL02334
Quality Score
Status
Chromosome 7
Chromosomal Location 140858243-140859046 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 140858530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046156] [ENSMUST00000080654] [ENSMUST00000167263] [ENSMUST00000167790] [ENSMUST00000210124] [ENSMUST00000211667]
AlphaFold Q08535
Predicted Effect probably null
Transcript: ENSMUST00000046156
SMART Domains Protein: ENSMUSP00000041519
Gene: ENSMUSG00000038580

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
GLUCA 32 58 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080654
SMART Domains Protein: ENSMUSP00000079484
Gene: ENSMUSG00000025497

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 3e-24 BLAST
transmembrane domain 478 500 N/A INTRINSIC
low complexity region 546 580 N/A INTRINSIC
low complexity region 634 653 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000167263
SMART Domains Protein: ENSMUSP00000127292
Gene: ENSMUSG00000025497

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
CA 53 125 3.78e-2 SMART
CA 152 238 2.34e-1 SMART
Blast:CA 277 355 3e-35 BLAST
Blast:CA 388 458 1e-24 BLAST
low complexity region 462 476 N/A INTRINSIC
low complexity region 496 518 N/A INTRINSIC
low complexity region 520 544 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
transmembrane domain 640 662 N/A INTRINSIC
low complexity region 708 742 N/A INTRINSIC
low complexity region 796 815 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000167790
SMART Domains Protein: ENSMUSP00000128729
Gene: ENSMUSG00000038580

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
GLUCA 32 58 1.16e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210386
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210928
Predicted Effect probably null
Transcript: ENSMUST00000211667
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the precursor of a gastrointestinal peptide hormone of the secretin-glucagon family. The encoded protein is secreted as a prohormone that undergoes proteolytic processing to generate a mature peptide hormone. The mature peptide regulates secretion of gastric acid, biocarbonate ions from pancreatic and biliary duct epithelia and water homeostasis in the gastrointestinal system. Mice lacking the encoded protein display decreased survival of neuroprogenitor cells during early postnatal period and impaired long-term potentiation and spatial learning in adulthood. Alternative splicing results in multiple transcript variants encoding different isoforms. All of these isoforms may be processed in a similar manner to generate the mature peptide hormone. [provided by RefSeq, Jul 2015]
PHENOTYPE: Mice homozygous for a null allele display impaired hippocampal synaptic function. Mice homozygous for a different knock-out allele fail exhibit increased water concsumption of vasopressin serum levels in response to ANGII treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 A G 15: 36,486,079 (GRCm39) V58A possibly damaging Het
Dhx16 A G 17: 36,194,949 (GRCm39) E492G probably damaging Het
Dock1 T C 7: 134,747,294 (GRCm39) M1535T probably damaging Het
Evpl G T 11: 116,121,850 (GRCm39) S344* probably null Het
F2 A T 2: 91,463,439 (GRCm39) H148Q probably benign Het
Fam83e A T 7: 45,373,345 (GRCm39) H237L probably benign Het
Fscn3 A T 6: 28,428,153 (GRCm39) probably null Het
Gpr162 C A 6: 124,838,123 (GRCm39) G176C probably damaging Het
Icam5 A G 9: 20,946,505 (GRCm39) D376G possibly damaging Het
Ift172 T C 5: 31,440,402 (GRCm39) K295R probably benign Het
Irf3 A G 7: 44,648,134 (GRCm39) probably benign Het
Itga2 A T 13: 115,001,845 (GRCm39) probably null Het
Klhl11 A T 11: 100,354,662 (GRCm39) D386E probably damaging Het
Myh4 G T 11: 67,136,373 (GRCm39) G417V probably damaging Het
Nlrp3 A G 11: 59,455,909 (GRCm39) T902A probably benign Het
Or2y17 A G 11: 49,232,018 (GRCm39) I220V probably benign Het
Or4a72 A C 2: 89,405,668 (GRCm39) M134R possibly damaging Het
Or9g3 A T 2: 85,590,503 (GRCm39) Y72* probably null Het
Phf10 T C 17: 15,174,361 (GRCm39) Y239C probably damaging Het
Pla2g4e A G 2: 120,017,717 (GRCm39) F203S probably benign Het
Pramel1 T C 4: 143,124,096 (GRCm39) F257S probably damaging Het
Prodh2 A G 7: 30,205,803 (GRCm39) H213R probably damaging Het
Rgs7 C T 1: 175,016,788 (GRCm39) D61N probably damaging Het
Rhobtb1 T A 10: 69,121,508 (GRCm39) probably benign Het
Slc17a9 G A 2: 180,382,536 (GRCm39) probably null Het
Spire1 T C 18: 67,639,725 (GRCm39) T263A probably benign Het
Trpm1 A T 7: 63,895,690 (GRCm39) probably null Het
Trpm7 G T 2: 126,649,282 (GRCm39) N1469K probably benign Het
Zfp750 G T 11: 121,402,837 (GRCm39) T637K probably benign Het
Zswim5 T C 4: 116,843,841 (GRCm39) C960R probably damaging Het
Zwint T A 10: 72,490,815 (GRCm39) probably null Het
Other mutations in Sct
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1654:Sct UTSW 7 140,858,767 (GRCm39) missense probably damaging 0.96
R1879:Sct UTSW 7 140,858,612 (GRCm39) missense probably damaging 0.98
R1898:Sct UTSW 7 140,858,761 (GRCm39) missense probably damaging 1.00
R4762:Sct UTSW 7 140,858,954 (GRCm39) unclassified probably benign
R8296:Sct UTSW 7 140,858,807 (GRCm39) missense probably damaging 0.98
R9110:Sct UTSW 7 140,859,007 (GRCm39) missense unknown
Posted On 2015-04-16