Incidental Mutation 'IGL02224:Ensa'
ID285264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ensa
Ensembl Gene ENSMUSG00000038619
Gene Nameendosulfine alpha
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL02224
Quality Score
Status
Chromosome3
Chromosomal Location95624993-95632102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 95628679 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 108 (S108P)
Ref Sequence ENSEMBL: ENSMUSP00000051799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037983] [ENSMUST00000058230]
Predicted Effect probably benign
Transcript: ENSMUST00000037983
AA Change: S108P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045937
Gene: ENSMUSG00000038619
AA Change: S108P

DomainStartEndE-ValueType
Pfam:Endosulfine 1 113 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058230
AA Change: S108P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000051799
Gene: ENSMUSG00000038619
AA Change: S108P

DomainStartEndE-ValueType
Pfam:Endosulfine 11 114 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199421
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 belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cadm3 A G 1: 173,338,061 I344T possibly damaging Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Ensa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Ensa APN 3 95628533 splice site probably benign
R4745:Ensa UTSW 3 95631434 missense probably benign 0.00
R4754:Ensa UTSW 3 95622554 unclassified probably benign
R4793:Ensa UTSW 3 95625178 critical splice donor site probably null
R5435:Ensa UTSW 3 95622458 unclassified probably benign
R7021:Ensa UTSW 3 95627048 splice site probably null
R7577:Ensa UTSW 3 95628645 missense probably damaging 1.00
X0066:Ensa UTSW 3 95628658 nonsense probably null
Posted On2015-04-16