Incidental Mutation 'IGL02096:Iapp'
ID281131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iapp
Ensembl Gene ENSMUSG00000041681
Gene Nameislet amyloid polypeptide
Synonymsamylin
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02096
Quality Score
Status
Chromosome6
Chromosomal Location142298423-142303961 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 142303473 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 84 (N84I)
Ref Sequence ENSEMBL: ENSMUSP00000043956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041993] [ENSMUST00000081380] [ENSMUST00000128446]
Predicted Effect probably benign
Transcript: ENSMUST00000041993
AA Change: N84I

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043956
Gene: ENSMUSG00000041681
AA Change: N84I

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CALCITONIN 36 78 9.02e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081380
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:MFS_1 22 420 4.3e-30 PFAM
KAZAL 438 486 2.18e0 SMART
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128446
SMART Domains Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:OATP 1 157 6.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141583
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this locus increases glucose tolerance in a gender-dependent manner and results in decreased bone density due to increased bone resorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik C A 13: 63,061,089 A340E probably benign Het
Abca9 A G 11: 110,102,533 L1584P probably damaging Het
Abca9 G T 11: 110,165,980 H5N probably benign Het
Acox1 A T 11: 116,178,198 I371N probably damaging Het
Bmp5 A G 9: 75,898,551 N445S probably damaging Het
Cacna1b G T 2: 24,678,915 A999E probably benign Het
Cdc27 A T 11: 104,528,568 probably benign Het
D430042O09Rik G A 7: 125,814,821 C379Y probably benign Het
Dmxl2 T C 9: 54,401,065 E2134G possibly damaging Het
Dnttip2 A G 3: 122,284,413 N698S possibly damaging Het
Duox1 A T 2: 122,344,174 K1271M probably damaging Het
Dync1h1 T C 12: 110,632,820 Y1870H possibly damaging Het
Edem3 A G 1: 151,804,719 T532A probably benign Het
Epx A T 11: 87,869,468 L440Q probably damaging Het
F11 A G 8: 45,246,754 F432L probably benign Het
Fam185a C A 5: 21,425,343 P59Q probably damaging Het
Fsip2 A G 2: 82,991,860 D5979G possibly damaging Het
Furin A G 7: 80,393,459 S335P probably damaging Het
Gm10130 T C 2: 150,323,714 Y5H probably damaging Het
Gtf3c1 T A 7: 125,659,112 Q1262L probably damaging Het
Hmmr A T 11: 40,707,429 V652E probably benign Het
Mmp17 C T 5: 129,598,688 Q304* probably null Het
Mpl T C 4: 118,457,136 T55A possibly damaging Het
Mst1r G A 9: 107,917,279 R1219H probably damaging Het
Muc6 T A 7: 141,639,850 probably benign Het
Nalcn C T 14: 123,594,503 V120I probably benign Het
Nt5dc1 A T 10: 34,399,810 C134* probably null Het
Obscn A C 11: 59,080,704 N2228K probably damaging Het
Olfr135 T A 17: 38,209,183 *313R probably null Het
Osbpl10 T C 9: 115,216,994 M566T possibly damaging Het
Pabpc1l G A 2: 164,044,347 V466I probably benign Het
Pdcd11 T G 19: 47,106,421 V548G probably benign Het
Prss27 G T 17: 24,044,977 K212N possibly damaging Het
Ranbp2 T A 10: 58,461,967 S399T probably damaging Het
Rgs19 A G 2: 181,689,283 S159P probably damaging Het
Sh2b1 A G 7: 126,469,293 S449P probably damaging Het
Slc6a18 T A 13: 73,672,751 Y238F probably benign Het
Stx11 T C 10: 12,941,480 I167V probably benign Het
Sucnr1 A G 3: 60,086,950 M300V possibly damaging Het
Synj2 A G 17: 5,990,353 T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 I261N probably damaging Het
Vmn2r43 G A 7: 8,257,513 probably benign Het
Vmn2r45 A G 7: 8,481,444 M454T probably damaging Het
Vsig2 T A 9: 37,539,955 S51T probably damaging Het
Wdr41 T C 13: 95,017,456 probably benign Het
Wdr6 A C 9: 108,576,553 L44V probably damaging Het
Zfp592 T C 7: 81,025,048 Y587H probably damaging Het
Zfp735 A T 11: 73,711,428 K399N probably benign Het
Other mutations in Iapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Iapp APN 6 142303364 missense probably damaging 1.00
IGL01484:Iapp APN 6 142303439 missense possibly damaging 0.92
R2218:Iapp UTSW 6 142303370 missense probably benign 0.03
R3803:Iapp UTSW 6 142303425 missense probably benign 0.03
Posted On2015-04-16