Incidental Mutation 'IGL02554:Igf2bp1'
ID298445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf2bp1
Ensembl Gene ENSMUSG00000013415
Gene Nameinsulin-like growth factor 2 mRNA binding protein 1
SynonymsIMP-1, Zbp1, D030026A21Rik, D11Moh45, CRD-BP, D11Moh40e, Crdbp
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02554
Quality Score
Status
Chromosome11
Chromosomal Location95957163-96005940 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 95974168 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 152 (S152P)
Ref Sequence ENSEMBL: ENSMUSP00000013559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013559]
Predicted Effect probably damaging
Transcript: ENSMUST00000013559
AA Change: S152P

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: S152P

DomainStartEndE-ValueType
RRM 3 71 7.42e-9 SMART
RRM 82 152 5.25e-9 SMART
KH 194 265 7.75e-14 SMART
KH 275 348 7.34e-15 SMART
low complexity region 377 390 N/A INTRINSIC
KH 404 475 1.91e-13 SMART
KH 486 558 1.42e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141515
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146586
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152896
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 insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous mutation of this locus results in increased neonatal lethality, growth retardation, and impaired intestinal development. Males exhibit increased anxiety-like response and decreased exploratory behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933408B17Rik A G 18: 34,593,015 S112P probably benign Het
9930111J21Rik1 T A 11: 48,948,003 M586L probably damaging Het
Abcg3 T C 5: 104,969,452 D204G possibly damaging Het
Acox3 C A 5: 35,608,366 L588I probably damaging Het
Adamts9 G T 6: 92,880,847 L849I probably benign Het
Alkbh3 T G 2: 93,996,347 T170P probably damaging Het
Anks1b A T 10: 90,921,378 H300L probably damaging Het
Arhgap29 T C 3: 121,992,524 probably benign Het
Cd86 C T 16: 36,618,485 G181D probably benign Het
Cep68 A T 11: 20,240,096 H305Q possibly damaging Het
Clptm1l A T 13: 73,607,760 D165V probably benign Het
Dctn1 T C 6: 83,182,722 Y61H probably damaging Het
Dnah7a A T 1: 53,618,046 M857K possibly damaging Het
Gpr158 A G 2: 21,826,596 M836V probably benign Het
Gria1 G T 11: 57,289,488 A755S possibly damaging Het
Helb G A 10: 120,089,712 T920M probably damaging Het
Hr T C 14: 70,559,866 probably benign Het
Iqsec1 T C 6: 90,669,345 Y784C probably damaging Het
Ldah T A 12: 8,283,935 C275* probably null Het
Lpin3 T C 2: 160,896,787 S220P probably damaging Het
Med23 T C 10: 24,898,575 probably null Het
Mllt1 T C 17: 56,899,806 D346G probably benign Het
Myef2 A C 2: 125,100,425 probably null Het
Myh2 A G 11: 67,189,165 S1095G probably benign Het
Nav1 A G 1: 135,584,913 silent Het
Olfr512 A G 7: 108,713,742 M118V possibly damaging Het
Piwil2 G A 14: 70,391,486 probably benign Het
Pkhd1l1 T A 15: 44,578,500 F3612I probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
S100pbp A T 4: 129,181,851 probably null Het
Scnn1b T C 7: 121,917,523 I495T probably damaging Het
Sgo2b A C 8: 63,926,537 V1087G probably damaging Het
Sil1 A T 18: 35,348,733 V91E probably damaging Het
Slc5a4b A G 10: 76,110,851 I29T possibly damaging Het
Spink5 A T 18: 44,015,594 N908I probably benign Het
Svopl A C 6: 38,017,043 I351S probably damaging Het
Syngr3 A G 17: 24,686,328 V198A probably benign Het
Tbck C A 3: 132,751,192 Y622* probably null Het
Tex33 A G 15: 78,378,536 M245T possibly damaging Het
Tkt T A 14: 30,558,780 M56K probably damaging Het
Trip10 T C 17: 57,263,135 V544A probably damaging Het
Txndc16 T C 14: 45,172,538 E195G probably damaging Het
Vmn2r69 G A 7: 85,409,806 P516S probably damaging Het
Vmn2r74 T C 7: 85,957,373 N255S probably benign Het
Xpo4 T C 14: 57,590,088 T884A probably benign Het
Zdhhc2 A G 8: 40,462,114 N167S probably damaging Het
Other mutations in Igf2bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03263:Igf2bp1 APN 11 95966673 missense probably damaging 1.00
R0011:Igf2bp1 UTSW 11 96005584 missense probably damaging 0.96
R0011:Igf2bp1 UTSW 11 96005584 missense probably damaging 0.96
R0098:Igf2bp1 UTSW 11 95973163 missense probably damaging 1.00
R0348:Igf2bp1 UTSW 11 95968893 missense possibly damaging 0.59
R0534:Igf2bp1 UTSW 11 95966796 splice site probably benign
R2025:Igf2bp1 UTSW 11 95974170 missense possibly damaging 0.95
R2026:Igf2bp1 UTSW 11 95974170 missense possibly damaging 0.95
R2103:Igf2bp1 UTSW 11 95975296 missense probably damaging 0.96
R2104:Igf2bp1 UTSW 11 95975296 missense probably damaging 0.96
R5021:Igf2bp1 UTSW 11 95974006 missense probably damaging 0.98
R5154:Igf2bp1 UTSW 11 95963547 nonsense probably null
R6123:Igf2bp1 UTSW 11 95975296 missense probably damaging 0.96
R6130:Igf2bp1 UTSW 11 95974020 missense probably damaging 1.00
R6736:Igf2bp1 UTSW 11 95973122 missense probably benign 0.14
Posted On2015-04-16