Incidental Mutation 'IGL01338:Igfbp3'
ID74712
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 #IGL01338
Quality Score
Status
Chromosome11
Chromosomal Location7206086-7213923 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 7208478 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 262 (F262I)
Ref Sequence ENSEMBL: ENSMUSP00000131670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020702] [ENSMUST00000135887]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020702
AA Change: F262I

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020702
Gene: ENSMUSG00000020427
AA Change: F262I

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 possibly damaging
Transcript: ENSMUST00000135887
AA Change: F262I

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131670
Gene: ENSMUSG00000020427
AA Change: F262I

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Gpd1 T A 15: 99,718,175 V22E probably damaging Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Igfbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01990:Igfbp3 APN 11 7208504 missense probably damaging 1.00
R1756:Igfbp3 UTSW 11 7208461 missense probably damaging 1.00
R5936:Igfbp3 UTSW 11 7209472 missense probably damaging 1.00
Posted On2013-10-07