Incidental Mutation 'IGL02224:Ensa'
ID 285264
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ensa
Ensembl Gene ENSMUSG00000038619
Gene Name endosulfine alpha
Synonyms 1700020C18Rik, 2610007F17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL02224
Quality Score
Status
Chromosome 3
Chromosomal Location 95532304-95539413 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95535990 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P60840
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: 4,329,289 (GRCm39) T23S probably damaging Het
Alpk3 G A 7: 80,726,616 (GRCm39) probably benign Het
Atp8b3 A G 10: 80,361,810 (GRCm39) probably benign Het
Atr C T 9: 95,760,682 (GRCm39) R1051C probably damaging Het
B4galt2 T C 4: 117,734,110 (GRCm39) D309G probably benign Het
C130026L21Rik A G 5: 111,730,291 (GRCm39) noncoding transcript Het
Cadm3 A G 1: 173,165,628 (GRCm39) I344T possibly damaging Het
Cd101 T C 3: 100,924,318 (GRCm39) T370A probably benign Het
Col6a5 A T 9: 105,741,534 (GRCm39) S2462T probably damaging Het
Csf3r A T 4: 125,937,332 (GRCm39) N739Y probably benign Het
Fancd2 T A 6: 113,545,281 (GRCm39) probably null Het
Fbp1 T A 13: 63,035,821 (GRCm39) T13S probably damaging Het
Flrt2 C A 12: 95,746,802 (GRCm39) T380K possibly damaging Het
Gpatch11 T C 17: 79,148,522 (GRCm39) probably benign Het
Hagh A G 17: 25,071,861 (GRCm39) D29G probably damaging Het
Hmmr T C 11: 40,600,831 (GRCm39) Q513R unknown Het
Hoxb8 T C 11: 96,173,981 (GRCm39) S65P probably benign Het
Il4ra T C 7: 125,169,271 (GRCm39) probably benign Het
Lbp A G 2: 158,148,669 (GRCm39) N27S probably damaging Het
Msh4 G A 3: 153,595,822 (GRCm39) T76I possibly damaging Het
Nfat5 T C 8: 108,071,447 (GRCm39) V281A probably benign Het
Or10ag53 C T 2: 87,082,821 (GRCm39) S180F probably benign Het
Or13c25 A T 4: 52,911,392 (GRCm39) V134D probably damaging Het
Or4p20 C T 2: 88,254,052 (GRCm39) probably null Het
Or5b106 T A 19: 13,123,120 (GRCm39) K301M probably damaging Het
Or5w16 T A 2: 87,576,757 (GRCm39) C72* probably null Het
Phf11b A T 14: 59,563,515 (GRCm39) probably benign Het
Pik3c2a A G 7: 115,962,575 (GRCm39) probably benign Het
Prdx1 T A 4: 116,549,064 (GRCm39) F66L probably damaging Het
Prss39 A G 1: 34,538,459 (GRCm39) H108R probably damaging Het
Spta1 C A 1: 174,045,255 (GRCm39) probably benign Het
Tmem87b A G 2: 128,676,127 (GRCm39) I297V possibly damaging Het
Vmn1r191 T C 13: 22,363,068 (GRCm39) R229G probably damaging Het
Vmn2r113 A T 17: 23,174,960 (GRCm39) R524* probably null Het
Washc2 T A 6: 116,197,530 (GRCm39) D254E possibly damaging Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zfp773 T C 7: 7,135,975 (GRCm39) H207R probably benign Het
Other mutations in Ensa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Ensa APN 3 95,535,844 (GRCm39) splice site probably benign
R4745:Ensa UTSW 3 95,538,745 (GRCm39) missense probably benign 0.00
R4754:Ensa UTSW 3 95,529,865 (GRCm39) unclassified probably benign
R4793:Ensa UTSW 3 95,532,489 (GRCm39) critical splice donor site probably null
R5435:Ensa UTSW 3 95,529,769 (GRCm39) unclassified probably benign
R7021:Ensa UTSW 3 95,534,359 (GRCm39) splice site probably null
R7577:Ensa UTSW 3 95,535,956 (GRCm39) missense probably damaging 1.00
X0066:Ensa UTSW 3 95,535,969 (GRCm39) nonsense probably null
Posted On 2015-04-16