Incidental Mutation 'IGL02218:Ins1'
ID 284988
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ins1
Ensembl Gene ENSMUSG00000035804
Gene Name insulin I
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.490) question?
Stock # IGL02218
Quality Score
Status
Chromosome 19
Chromosomal Location 52252735-52253453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52253121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 20 (K20N)
Ref Sequence ENSEMBL: ENSMUSP00000049095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039652]
AlphaFold P01325
PDB Structure Crystal Structure of H-2D in complex with an insulin derived peptide [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000039652
AA Change: K20N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049095
Gene: ENSMUSG00000035804
AA Change: K20N

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 107 2.92e-35 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. The encoded precursor protein undergoes proteolytic cleavage to produce a disulfide-linked heterodimeric functional protein that is stored in secretory granules. An increase in blood glucose levels, among others, induces the release of insulin from the secretory granules. Mice deficient in the functional hormone encoded by this gene develop diabetes mellitus. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have a somewhat increased pancreatic beta cell mass and a limited amount of hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,838 (GRCm39) D122G probably benign Het
Abcc8 T C 7: 45,769,860 (GRCm39) D885G probably benign Het
Abcf1 T C 17: 36,269,230 (GRCm39) K676R probably benign Het
Acsf2 A G 11: 94,492,589 (GRCm39) V3A probably benign Het
Apba2 C T 7: 64,345,425 (GRCm39) T205I probably benign Het
Bricd5 C A 17: 24,694,296 (GRCm39) Y171* probably null Het
Camk2d T G 3: 126,633,802 (GRCm39) N441K probably benign Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Chd3 C T 11: 69,242,920 (GRCm39) probably benign Het
Cipc A G 12: 87,008,702 (GRCm39) N166S probably damaging Het
Cln5 A C 14: 103,313,276 (GRCm39) probably null Het
Cnbd1 C A 4: 18,887,739 (GRCm39) Q258H probably benign Het
Cyp8b1 A G 9: 121,744,183 (GRCm39) L383P probably damaging Het
Dnai4 A G 4: 102,953,971 (GRCm39) V76A probably damaging Het
Dok3 A G 13: 55,671,599 (GRCm39) L324P probably damaging Het
Eftud2 A T 11: 102,761,039 (GRCm39) F102Y possibly damaging Het
Ewsr1 G A 11: 5,020,668 (GRCm39) P551S unknown Het
Fam193a G T 5: 34,600,932 (GRCm39) V346L possibly damaging Het
Golim4 A G 3: 75,785,361 (GRCm39) S677P probably damaging Het
Gpr149 A G 3: 62,437,952 (GRCm39) probably benign Het
Itpr2 A T 6: 146,141,760 (GRCm39) probably benign Het
Jup G A 11: 100,272,665 (GRCm39) T249I probably damaging Het
Kctd20 T A 17: 29,176,877 (GRCm39) N2K probably benign Het
Kif15 A G 9: 122,824,892 (GRCm39) probably benign Het
Klrb1-ps1 T C 6: 129,106,269 (GRCm39) noncoding transcript Het
Krtap29-1 T C 11: 99,869,884 (GRCm39) probably null Het
Lamb3 A T 1: 193,010,941 (GRCm39) probably null Het
Large1 A G 8: 73,638,750 (GRCm39) W276R probably damaging Het
Lrp1b T C 2: 41,185,684 (GRCm39) N603D probably benign Het
Lrrc37a A G 11: 103,391,207 (GRCm39) V1406A probably benign Het
Lrrc74a A G 12: 86,795,822 (GRCm39) D265G probably benign Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mbtd1 A G 11: 93,822,629 (GRCm39) probably benign Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Mtfr1l C T 4: 134,256,491 (GRCm39) D225N probably benign Het
Nckap1l T A 15: 103,391,954 (GRCm39) S796R possibly damaging Het
Oaf T A 9: 43,136,219 (GRCm39) H119L probably benign Het
Or4d1 A T 11: 87,804,889 (GRCm39) M281K probably damaging Het
Pik3c2g A T 6: 139,806,081 (GRCm39) H516L probably damaging Het
Pkd1l3 A T 8: 110,387,434 (GRCm39) I1793F possibly damaging Het
Ptpra A G 2: 130,394,255 (GRCm39) probably benign Het
Slc25a27 C T 17: 43,974,964 (GRCm39) probably null Het
Slc2a2 A T 3: 28,752,174 (GRCm39) E3D possibly damaging Het
Slc35f5 T C 1: 125,512,292 (GRCm39) F14S probably damaging Het
Sspn T C 6: 145,907,112 (GRCm39) V105A probably damaging Het
Syvn1 T C 19: 6,100,229 (GRCm39) I263T probably damaging Het
Tek A C 4: 94,743,574 (GRCm39) D863A probably damaging Het
Tent5b C T 4: 133,213,462 (GRCm39) A111V probably damaging Het
Tm9sf4 G T 2: 153,046,536 (GRCm39) V592F probably benign Het
Tmem259 A G 10: 79,814,151 (GRCm39) M354T possibly damaging Het
Ttf2 T C 3: 100,871,409 (GRCm39) E84G possibly damaging Het
Ttyh3 T C 5: 140,612,246 (GRCm39) E487G probably damaging Het
Ubtf C A 11: 102,197,526 (GRCm39) E709* probably null Het
Vmn1r119 T C 7: 20,745,561 (GRCm39) R274G probably benign Het
Zfp804a A G 2: 82,089,546 (GRCm39) Q1125R probably damaging Het
Other mutations in Ins1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Ins1 APN 19 52,253,173 (GRCm39) missense probably damaging 1.00
R4849:Ins1 UTSW 19 52,253,384 (GRCm39) missense probably damaging 0.97
R5518:Ins1 UTSW 19 52,253,177 (GRCm39) missense probably damaging 1.00
R7466:Ins1 UTSW 19 52,252,858 (GRCm39) start gained probably benign
R8491:Ins1 UTSW 19 52,252,808 (GRCm39) start gained probably benign
R9307:Ins1 UTSW 19 52,253,258 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16