Incidental Mutation 'R4793:Ensa'
ID 368746
Institutional Source Beutler Lab
Gene Symbol Ensa
Ensembl Gene ENSMUSG00000038619
Gene Name endosulfine alpha
Synonyms 1700020C18Rik, 2610007F17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4793 (G1)
Quality Score 186
Status Validated
Chromosome 3
Chromosomal Location 95532304-95539413 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 95532489 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 null
Transcript: ENSMUST00000037983
SMART Domains Protein: ENSMUSP00000045937
Gene: ENSMUSG00000038619

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

DomainStartEndE-ValueType
Pfam:Endosulfine 11 114 1.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000074353
SMART Domains Protein: ENSMUSP00000136770
Gene: ENSMUSG00000060438

DomainStartEndE-ValueType
Pfam:S10_plectin 3 98 4.8e-50 PFAM
low complexity region 150 165 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199421
Meta Mutation Damage Score 0.9474 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 100% (91/91)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T A 11: 110,082,544 (GRCm39) E1143V probably benign Het
Abi2 T A 1: 60,448,963 (GRCm39) M1K probably null Het
Acp2 T C 2: 91,037,134 (GRCm39) F205L probably benign Het
Adam17 T C 12: 21,397,396 (GRCm39) N219D probably benign Het
Aldh2 T C 5: 121,707,042 (GRCm39) S168G probably damaging Het
Arhgap15 A T 2: 44,032,353 (GRCm39) E312D probably damaging Het
Calm5 T C 13: 3,904,401 (GRCm39) S32P probably benign Het
Capn12 G A 7: 28,592,094 (GRCm39) D671N probably benign Het
Ccdc73 A G 2: 104,848,127 (GRCm39) probably null Het
Cdc20 T A 4: 118,294,261 (GRCm39) I20F probably benign Het
Cdh23 A T 10: 60,167,129 (GRCm39) I1841N probably damaging Het
Cftr T C 6: 18,226,087 (GRCm39) V345A probably damaging Het
Col15a1 T C 4: 47,262,997 (GRCm39) S550P possibly damaging Het
Col4a4 A G 1: 82,516,820 (GRCm39) Y133H unknown Het
Csmd1 A G 8: 16,138,277 (GRCm39) S1592P probably damaging Het
Cts6 T A 13: 61,349,626 (GRCm39) M56L probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dock5 A G 14: 68,037,803 (GRCm39) S947P probably benign Het
Dpysl2 G T 14: 67,052,498 (GRCm39) A339D possibly damaging Het
Ebf2 A G 14: 67,647,531 (GRCm39) D360G probably damaging Het
Fap C A 2: 62,374,713 (GRCm39) V229F probably damaging Het
Fbn1 C A 2: 125,163,155 (GRCm39) G2116* probably null Het
Frmd4b A T 6: 97,272,822 (GRCm39) S857T probably damaging Het
Fsip2 T A 2: 82,818,044 (GRCm39) Y4592* probably null Het
Fubp1 T A 3: 151,928,966 (GRCm39) Y135N possibly damaging Het
Gdap2 T C 3: 100,078,234 (GRCm39) L66P probably damaging Het
Gm10257 T C 13: 101,083,305 (GRCm39) noncoding transcript Het
Gm1758 A T 16: 14,325,036 (GRCm39) noncoding transcript Het
Gna13 T C 11: 109,254,455 (GRCm39) probably benign Het
H2bc13 T C 13: 21,900,088 (GRCm39) S76G probably benign Het
Heatr1 T C 13: 12,446,718 (GRCm39) I1689T probably benign Het
Hephl1 A G 9: 15,009,286 (GRCm39) I102T probably benign Het
Hltf T G 3: 20,118,114 (GRCm39) Y121D possibly damaging Het
Hspg2 T C 4: 137,256,784 (GRCm39) V1509A possibly damaging Het
Ifitm5 G T 7: 140,530,077 (GRCm39) R16S probably benign Het
Il1rap A C 16: 26,513,984 (GRCm39) D239A probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kcna6 T C 6: 126,715,519 (GRCm39) I457V probably damaging Het
Kctd17 T A 15: 78,317,224 (GRCm39) L47Q probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lrrc63 A G 14: 75,363,601 (GRCm39) S177P possibly damaging Het
Lrriq1 T C 10: 103,006,327 (GRCm39) D1266G probably benign Het
Map3k2 G T 18: 32,361,203 (GRCm39) M554I probably damaging Het
Mst1r T A 9: 107,797,124 (GRCm39) V1331E probably damaging Het
Musk T C 4: 58,373,400 (GRCm39) I775T probably damaging Het
Mybl2 A G 2: 162,916,683 (GRCm39) K7E probably damaging Het
Nf1 T C 11: 79,338,398 (GRCm39) S1137P probably damaging Het
Nlrp5 A G 7: 23,117,055 (GRCm39) I260V probably damaging Het
Or13c7 A T 4: 43,854,323 (GRCm39) N5Y probably benign Het
Or9g4 A C 2: 85,504,842 (GRCm39) Y218D probably damaging Het
Or9s23 G T 1: 92,501,207 (GRCm39) A105S possibly damaging Het
Pabpc1l C T 2: 163,869,542 (GRCm39) A114V possibly damaging Het
Plac8l1 T A 18: 42,311,973 (GRCm39) I149F possibly damaging Het
Pou6f1 T A 15: 100,476,293 (GRCm39) N531I probably damaging Het
Prdm10 A G 9: 31,264,701 (GRCm39) Y712C probably damaging Het
Ptbp3 T C 4: 59,514,297 (GRCm39) T43A possibly damaging Het
Ptpn13 T C 5: 103,730,644 (GRCm39) probably null Het
Rnf135 T C 11: 80,087,775 (GRCm39) probably null Het
Rusf1 A T 7: 127,887,374 (GRCm39) probably benign Het
Serpinb3d A G 1: 107,005,951 (GRCm39) L379P probably damaging Het
Sh2d6 T A 6: 72,494,581 (GRCm39) T124S probably benign Het
Slc26a5 G A 5: 22,042,992 (GRCm39) P153S probably damaging Het
Slc5a7 A G 17: 54,588,822 (GRCm39) F275S possibly damaging Het
Snx14 A G 9: 88,276,495 (GRCm39) S606P probably damaging Het
Sphkap A T 1: 83,255,805 (GRCm39) I648K possibly damaging Het
Spon2 T C 5: 33,371,904 (GRCm39) T301A probably damaging Het
Srpra C T 9: 35,124,447 (GRCm39) T48I probably benign Het
Taar9 G A 10: 23,985,408 (GRCm39) P9S probably benign Het
Tacc1 A T 8: 25,672,405 (GRCm39) S274R possibly damaging Het
Tc2n A G 12: 101,617,376 (GRCm39) S348P possibly damaging Het
Timd2 G T 11: 46,578,008 (GRCm39) T41K probably damaging Het
Tmem132a T A 19: 10,842,857 (GRCm39) E206V probably damaging Het
Tmt1a3 A G 15: 100,232,889 (GRCm39) M27V probably benign Het
Tpi1 A T 6: 124,789,544 (GRCm39) probably benign Het
Traf5 T G 1: 191,729,765 (GRCm39) T429P probably benign Het
Trav4-3 A G 14: 53,836,615 (GRCm39) S27G possibly damaging Het
Tubd1 T C 11: 86,457,895 (GRCm39) M462T probably benign Het
Ube4a T C 9: 44,860,120 (GRCm39) D314G probably damaging Het
Utp25 T A 1: 192,796,116 (GRCm39) Q50L probably null Het
Vmn2r58 G T 7: 41,514,495 (GRCm39) T158K probably damaging Het
Vmn2r68 C A 7: 84,883,648 (GRCm39) M152I probably benign Het
Vmn2r91 A G 17: 18,325,658 (GRCm39) E92G probably damaging Het
Wdr20rt T C 12: 65,273,395 (GRCm39) V113A probably damaging Het
Zfp729a T C 13: 67,768,546 (GRCm39) H561R probably damaging Het
Zfp804a T A 2: 82,066,186 (GRCm39) D52E probably damaging Het
Other mutations in Ensa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01784:Ensa APN 3 95,535,844 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GCAACCATAGTGACAGGAGC -3'
(R):5'- AACGGCTTCCATGAACTGAATAG -3'

Sequencing Primer
(F):5'- CCATAGTGACAGGAGCCGGAG -3'
(R):5'- TCCATGAACTGAATAGAGGCCTACTG -3'
Posted On 2016-02-04