Incidental Mutation 'IGL01990:Igfbp3'
ID182040
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igfbp3
Ensembl Gene ENSMUSG00000020427
Gene Nameinsulin-like growth factor binding protein 3
SynonymsIGFBP-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01990
Quality Score
Status
Chromosome11
Chromosomal Location7206086-7213923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 7208504 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 253 (R253L)
Ref Sequence ENSEMBL: ENSMUSP00000131670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020702] [ENSMUST00000135887]
Predicted Effect probably damaging
Transcript: ENSMUST00000020702
AA Change: R253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020702
Gene: ENSMUSG00000020427
AA Change: R253L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IB 38 118 1.05e-31 SMART
TY 238 290 2.22e-20 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135887
AA Change: R253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131670
Gene: ENSMUSG00000020427
AA Change: R253L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
IB 38 118 1.05e-31 SMART
TY 238 290 2.22e-20 SMART
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 is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit normal body weight. Mice homozygous for another knock-out allele exhibit increased body weight, and show altered hepatic carbohydrate and lipid metabolism when fed a high-fat diet. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Cnr2 C T 4: 135,916,805 R65C probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc38a7 C T 8: 95,844,962 W213* probably null Het
Slc5a4b T C 10: 76,060,354 E589G probably benign Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Xkr9 A G 1: 13,700,979 I240V probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Zfp551 C T 7: 12,422,416 V25M possibly damaging Het
Other mutations in Igfbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Igfbp3 APN 11 7208478 missense possibly damaging 0.69
R1756:Igfbp3 UTSW 11 7208461 missense probably damaging 1.00
R5936:Igfbp3 UTSW 11 7209472 missense probably damaging 1.00
R8098:Igfbp3 UTSW 11 7210104 missense possibly damaging 0.68
R8233:Igfbp3 UTSW 11 7210152 missense probably benign 0.18
R8467:Igfbp3 UTSW 11 7213523 missense probably damaging 1.00
Posted On2014-05-07