Incidental Mutation 'IGL02485:Igf1'
ID295384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf1
Ensembl Gene ENSMUSG00000020053
Gene Nameinsulin-like growth factor 1
SynonymsC730016P09Rik, Igf-I, Igf-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02485
Quality Score
Status
Chromosome10
Chromosomal Location87858265-87937042 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87864746 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 11 (M11V)
Ref Sequence ENSEMBL: ENSMUSP00000122188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062862] [ENSMUST00000095360] [ENSMUST00000105300] [ENSMUST00000121161] [ENSMUST00000121952] [ENSMUST00000122100] [ENSMUST00000122386] [ENSMUST00000126490]
Predicted Effect probably benign
Transcript: ENSMUST00000062862
AA Change: M11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000056668
Gene: ENSMUSG00000020053
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095360
AA Change: M27V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093005
Gene: ENSMUSG00000020053
AA Change: M27V

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105300
AA Change: M27V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000100937
Gene: ENSMUSG00000020053
AA Change: M27V

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121161
AA Change: M11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114120
Gene: ENSMUSG00000020053
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121952
AA Change: M11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113177
Gene: ENSMUSG00000020053
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122100
AA Change: M11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112878
Gene: ENSMUSG00000020053
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122386
AA Change: M27V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113905
Gene: ENSMUSG00000020053
AA Change: M27V

DomainStartEndE-ValueType
IlGF 51 109 9.22e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126490
AA Change: M11V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122188
Gene: ENSMUSG00000020053
AA Change: M11V

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
IlGF 35 93 9.22e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146581
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the insulin-like growth factor (IGF) family of proteins that promote growth and development during fetal and postnatal life. This gene is predominantly expressed in the liver and the encoded protein undergoes proteolytic processing to generate a disulfide-linked mature polypeptide. Transgenic disruption of this gene in mice results in reduced postnatal survival and severe growth retardation. Mice lacking the encoded protein exhibit generalized organ hypoplasia including underdevelopment of the central nervous system and developmental defects in bone, muscle and reproductive systems. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants are severely growth retarded and die perinatally with many immature organ systems. Heterozygotes and partial knockouts show genetic background effects and can display growth retardation and abnormalities in muscle, lungs, and CNS. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mars2 T C 1: 55,237,591 F118L possibly damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Igf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03171:Igf1 APN 10 87864821 missense probably damaging 1.00
R1850:Igf1 UTSW 10 87861374 missense possibly damaging 0.47
R1962:Igf1 UTSW 10 87864864 missense probably damaging 1.00
R2428:Igf1 UTSW 10 87864821 missense probably damaging 1.00
R3852:Igf1 UTSW 10 87915319 nonsense probably null
R4757:Igf1 UTSW 10 87915425 missense probably benign 0.01
R6893:Igf1 UTSW 10 87864860 missense probably damaging 1.00
R6954:Igf1 UTSW 10 87864860 missense probably damaging 1.00
Posted On2015-04-16