Incidental Mutation 'R4060:Igfbp1'
ID 315825
Institutional Source Beutler Lab
Gene Symbol Igfbp1
Ensembl Gene ENSMUSG00000020429
Gene Name insulin-like growth factor binding protein 1
Synonyms IGFBP-1
MMRRC Submission 041618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4060 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 7147787-7152546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7148091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 45 (P45T)
Ref Sequence ENSEMBL: ENSMUSP00000020704 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020704]
AlphaFold P47876
Predicted Effect probably damaging
Transcript: ENSMUST00000020704
AA Change: P45T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020704
Gene: ENSMUSG00000020429
AA Change: P45T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IB 30 108 2.18e-29 SMART
TY 216 268 8.86e-20 SMART
Meta Mutation Damage Score 0.5685 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 95% (41/43)
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 binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene desplay a grossly normal phenotype but are more susceptible to liver injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A T 1: 53,197,928 (GRCm39) L140Q probably damaging Het
Abca8b A T 11: 109,848,027 (GRCm39) M756K probably benign Het
Cd44 T C 2: 102,731,687 (GRCm39) D2G probably damaging Het
Cdan1 T C 2: 120,556,224 (GRCm39) I681V probably benign Het
Cdc5l C T 17: 45,721,816 (GRCm39) A485T probably benign Het
Cfh T C 1: 140,047,664 (GRCm39) I488M possibly damaging Het
Cntn2 T A 1: 132,453,634 (GRCm39) L346F probably damaging Het
Creb3l2 T C 6: 37,311,484 (GRCm39) H435R probably benign Het
Dmbt1 A G 7: 130,675,932 (GRCm39) probably benign Het
Fam162a C T 16: 35,864,451 (GRCm39) R38K probably benign Het
Fat1 A T 8: 45,478,518 (GRCm39) E2521D probably benign Het
Foxo1 A G 3: 52,252,583 (GRCm39) R249G probably damaging Het
Grm6 A G 11: 50,744,051 (GRCm39) E174G probably damaging Het
Gtpbp2 G A 17: 46,478,253 (GRCm39) R467H probably damaging Het
Hypk A G 2: 121,284,160 (GRCm39) probably benign Het
Ifih1 T C 2: 62,429,143 (GRCm39) T932A possibly damaging Het
Ik A G 18: 36,881,943 (GRCm39) K142E probably damaging Het
Ltbp3 T C 19: 5,792,348 (GRCm39) L27P probably benign Het
Mast3 A G 8: 71,233,838 (GRCm39) V969A probably damaging Het
Mrps24 G A 11: 5,654,676 (GRCm39) R93* probably null Het
Or13a20 T C 7: 140,232,033 (GRCm39) I47T probably damaging Het
Or1j14 A G 2: 36,417,426 (GRCm39) M1V probably null Het
Or7g19 T C 9: 18,856,346 (GRCm39) V134A probably benign Het
Otop2 G A 11: 115,220,201 (GRCm39) G347D probably damaging Het
Pcdhb20 A G 18: 37,639,217 (GRCm39) E581G probably damaging Het
Rnf146 T C 10: 29,223,363 (GRCm39) I174M probably damaging Het
Serpinb9g G A 13: 33,679,089 (GRCm39) V320I probably benign Het
Sh3pxd2b G T 11: 32,372,263 (GRCm39) A477S probably benign Het
Slc23a3 T G 1: 75,109,964 (GRCm39) probably benign Het
Ssrp1 T G 2: 84,871,978 (GRCm39) Y401D probably damaging Het
Tas2r109 A T 6: 132,957,148 (GRCm39) W261R probably damaging Het
Tas2r144 T C 6: 42,192,563 (GRCm39) V101A possibly damaging Het
Tead1 T A 7: 112,475,269 (GRCm39) probably null Het
Tiam2 A G 17: 3,479,255 (GRCm39) S663G probably benign Het
Trbv20 T G 6: 41,165,195 (GRCm39) probably benign Het
Tspan9 T C 6: 128,011,135 (GRCm39) I19M probably benign Het
Ttbk2 T A 2: 120,579,465 (GRCm39) E552D probably benign Het
Zfp292 A G 4: 34,810,863 (GRCm39) V727A probably damaging Het
Other mutations in Igfbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0284:Igfbp1 UTSW 11 7,148,103 (GRCm39) missense probably damaging 1.00
R1292:Igfbp1 UTSW 11 7,150,863 (GRCm39) missense probably damaging 1.00
R1696:Igfbp1 UTSW 11 7,151,922 (GRCm39) missense probably damaging 1.00
R1696:Igfbp1 UTSW 11 7,147,978 (GRCm39) missense probably benign 0.30
R2940:Igfbp1 UTSW 11 7,151,970 (GRCm39) missense probably benign 0.00
R5276:Igfbp1 UTSW 11 7,151,892 (GRCm39) missense probably damaging 1.00
R5308:Igfbp1 UTSW 11 7,149,919 (GRCm39) critical splice donor site probably null
R8103:Igfbp1 UTSW 11 7,148,106 (GRCm39) missense probably damaging 1.00
R8784:Igfbp1 UTSW 11 7,151,952 (GRCm39) missense probably damaging 1.00
R8865:Igfbp1 UTSW 11 7,151,929 (GRCm39) missense probably damaging 1.00
R8933:Igfbp1 UTSW 11 7,148,333 (GRCm39) critical splice donor site probably null
R9569:Igfbp1 UTSW 11 7,147,881 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- TGTCCAGAGTCTCATCCACAG -3'
(R):5'- AGCTGAACAAGGTGCTCGTG -3'

Sequencing Primer
(F):5'- ACAGCCTGCTGAACCAGTTG -3'
(R):5'- TGCAGCAGGTTCTGGTACAC -3'
Posted On 2015-05-15