Incidental Mutation 'IGL01784:Ensa'
ID 154262
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 # IGL01784
Quality Score
Status
Chromosome 3
Chromosomal Location 95532304-95539413 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 95535844 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000051799 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037983] [ENSMUST00000058230]
AlphaFold P60840
Predicted Effect probably benign
Transcript: ENSMUST00000037983
SMART Domains Protein: ENSMUSP00000045937
Gene: ENSMUSG00000038619

DomainStartEndE-ValueType
Pfam:Endosulfine 1 113 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058230
SMART Domains Protein: ENSMUSP00000051799
Gene: ENSMUSG00000038619

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,445 (GRCm39) P309L possibly damaging Het
Abca4 A T 3: 121,932,154 (GRCm39) K269N probably benign Het
Abcb5 T C 12: 118,854,399 (GRCm39) T839A probably benign Het
Adcy7 A G 8: 89,040,751 (GRCm39) D30G probably damaging Het
Aldh3b1 A G 19: 3,971,217 (GRCm39) I149T probably benign Het
Ap3b1 A G 13: 94,630,247 (GRCm39) D199G probably damaging Het
Cplx3 T C 9: 57,527,847 (GRCm39) Y36C probably damaging Het
Ddo A G 10: 40,507,784 (GRCm39) probably benign Het
Etnppl A G 3: 130,425,427 (GRCm39) I405V possibly damaging Het
Fam171b T A 2: 83,710,031 (GRCm39) L568M possibly damaging Het
Fmn2 A G 1: 174,329,994 (GRCm39) D128G unknown Het
Fra10ac1 T A 19: 38,208,125 (GRCm39) H43L probably benign Het
Gm7589 T C 9: 59,053,310 (GRCm39) noncoding transcript Het
Gsx1 A G 5: 147,126,939 (GRCm39) D254G probably benign Het
Hoxb6 A G 11: 96,191,639 (GRCm39) E187G probably damaging Het
Kmt2c A T 5: 25,518,524 (GRCm39) I2385N probably damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Mccc1 T G 3: 36,030,897 (GRCm39) N390H probably damaging Het
Mphosph9 T C 5: 124,403,373 (GRCm39) probably benign Het
Nfic T C 10: 81,241,982 (GRCm39) D364G possibly damaging Het
Niban1 T A 1: 151,525,116 (GRCm39) Y174N probably damaging Het
Npy A G 6: 49,806,314 (GRCm39) probably benign Het
Or6c8 C T 10: 128,915,224 (GRCm39) V203M probably benign Het
Osbpl3 A G 6: 50,321,902 (GRCm39) S75P probably damaging Het
Plekhg4 G T 8: 106,105,589 (GRCm39) A685S probably damaging Het
Pramel51 A G 12: 88,143,085 (GRCm39) Y178H probably benign Het
Prss53 T C 7: 127,485,724 (GRCm39) T539A probably benign Het
Rnf43 T A 11: 87,622,632 (GRCm39) S537T possibly damaging Het
Rpgrip1l G A 8: 91,997,089 (GRCm39) T597I possibly damaging Het
Rtn4 C A 11: 29,657,291 (GRCm39) Q482K probably damaging Het
Sema3g T C 14: 30,944,924 (GRCm39) I349T probably damaging Het
Sh3gl1 A C 17: 56,326,325 (GRCm39) S108A possibly damaging Het
Tmc7 A T 7: 118,146,538 (GRCm39) probably null Het
Tmem131 G A 1: 36,854,564 (GRCm39) T131I probably damaging Het
Vac14 T C 8: 111,397,800 (GRCm39) L505P probably benign Het
Wasf2 A G 4: 132,919,439 (GRCm39) Q231R unknown Het
Wnt7a A G 6: 91,342,839 (GRCm39) C348R probably damaging Het
Zkscan6 T A 11: 65,705,547 (GRCm39) L86Q probably damaging Het
Other mutations in Ensa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02224:Ensa APN 3 95,535,990 (GRCm39) missense probably benign 0.00
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 2014-02-04