Incidental Mutation 'IGL03263:Igf2bp1'
ID 414974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf2bp1
Ensembl Gene ENSMUSG00000013415
Gene Name insulin-like growth factor 2 mRNA binding protein 1
Synonyms D030026A21Rik, IMP1, Crdbp, D11Moh45, IMP-1, D11Moh40e, CRD-BP, Zbp1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # IGL03263
Quality Score
Status
Chromosome 11
Chromosomal Location 95847989-95896766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95857499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 502 (V502D)
Ref Sequence ENSEMBL: ENSMUSP00000013559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013559]
AlphaFold O88477
Predicted Effect probably damaging
Transcript: ENSMUST00000013559
AA Change: V502D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: V502D

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: ENSMUST00000138513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175617
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,499 (GRCm39) I81F probably damaging Het
Acacb C T 5: 114,351,754 (GRCm39) H1164Y probably damaging Het
Adamts5 A T 16: 85,666,830 (GRCm39) V554E probably damaging Het
Asns G A 6: 7,689,404 (GRCm39) R33C probably benign Het
BC051076 T G 5: 88,111,977 (GRCm39) noncoding transcript Het
Bcas3 C T 11: 85,712,948 (GRCm39) probably benign Het
Bpifb1 A G 2: 154,057,226 (GRCm39) M395V probably benign Het
Cdcp1 C A 9: 123,009,152 (GRCm39) V509L probably benign Het
Cdhr2 A G 13: 54,865,926 (GRCm39) T277A possibly damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clca4a T A 3: 144,672,192 (GRCm39) E250V probably damaging Het
Cplx4 T C 18: 66,100,559 (GRCm39) D79G probably benign Het
Dcaf11 A G 14: 55,802,949 (GRCm39) D246G probably damaging Het
Dnah2 A T 11: 69,420,207 (GRCm39) probably null Het
Dock3 A T 9: 106,807,330 (GRCm39) probably benign Het
Fam170a T C 18: 50,413,588 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,782,149 (GRCm39) M423L probably benign Het
Gabra2 A G 5: 71,130,836 (GRCm39) F331L probably damaging Het
Galnt18 C T 7: 111,119,321 (GRCm39) R400Q probably damaging Het
H2-M11 A T 17: 36,859,805 (GRCm39) Q266L probably damaging Het
Ik A G 18: 36,881,699 (GRCm39) N111S probably damaging Het
Intu T A 3: 40,627,027 (GRCm39) Y269* probably null Het
Krt82 T C 15: 101,450,307 (GRCm39) Y463C probably benign Het
Lrig1 A G 6: 94,588,628 (GRCm39) M507T probably benign Het
Lrrc37 A G 11: 103,504,525 (GRCm39) V2481A possibly damaging Het
Mag T G 7: 30,598,953 (GRCm39) probably null Het
Map7 T A 10: 20,121,068 (GRCm39) Y121* probably null Het
Marchf6 A G 15: 31,486,508 (GRCm39) I349T probably benign Het
Mas1 A G 17: 13,060,451 (GRCm39) V324A possibly damaging Het
Nckap1l T C 15: 103,372,832 (GRCm39) W259R probably damaging Het
Nhsl1 T A 10: 18,373,827 (GRCm39) Y164* probably null Het
Or52e5 T A 7: 104,719,209 (GRCm39) H178Q probably damaging Het
Or8b38 A T 9: 37,973,009 (GRCm39) Y131F probably damaging Het
Pcdhb2 A G 18: 37,429,059 (GRCm39) D344G probably damaging Het
Pclo T C 5: 14,731,824 (GRCm39) V3442A unknown Het
Polr3c C T 3: 96,621,567 (GRCm39) probably benign Het
Ppp2r2d C T 7: 138,474,651 (GRCm39) R11* probably null Het
Ptgfr T A 3: 151,541,500 (GRCm39) M3L probably benign Het
Rfx6 A G 10: 51,601,903 (GRCm39) S741G probably benign Het
Rif1 T C 2: 51,980,273 (GRCm39) V490A probably damaging Het
Samd7 T A 3: 30,816,302 (GRCm39) H349Q probably damaging Het
Sh3pxd2a T C 19: 47,302,482 (GRCm39) N199S probably damaging Het
Spef2 T A 15: 9,667,305 (GRCm39) K794N possibly damaging Het
Spta1 C T 1: 174,041,484 (GRCm39) A1316V probably damaging Het
Vwa7 A G 17: 35,240,575 (GRCm39) E410G probably benign Het
Washc2 T A 6: 116,215,084 (GRCm39) probably benign Het
Wdr72 A C 9: 74,064,711 (GRCm39) Y581S probably damaging Het
Zdhhc17 T C 10: 110,796,877 (GRCm39) D298G probably damaging Het
Other mutations in Igf2bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Igf2bp1 APN 11 95,864,994 (GRCm39) missense probably damaging 0.97
R0011:Igf2bp1 UTSW 11 95,896,410 (GRCm39) missense probably damaging 0.96
R0011:Igf2bp1 UTSW 11 95,896,410 (GRCm39) missense probably damaging 0.96
R0098:Igf2bp1 UTSW 11 95,863,989 (GRCm39) missense probably damaging 1.00
R0348:Igf2bp1 UTSW 11 95,859,719 (GRCm39) missense possibly damaging 0.59
R0534:Igf2bp1 UTSW 11 95,857,622 (GRCm39) splice site probably benign
R2025:Igf2bp1 UTSW 11 95,864,996 (GRCm39) missense possibly damaging 0.95
R2026:Igf2bp1 UTSW 11 95,864,996 (GRCm39) missense possibly damaging 0.95
R2103:Igf2bp1 UTSW 11 95,866,122 (GRCm39) missense probably damaging 0.96
R2104:Igf2bp1 UTSW 11 95,866,122 (GRCm39) missense probably damaging 0.96
R5021:Igf2bp1 UTSW 11 95,864,832 (GRCm39) missense probably damaging 0.98
R5154:Igf2bp1 UTSW 11 95,854,373 (GRCm39) nonsense probably null
R6123:Igf2bp1 UTSW 11 95,866,122 (GRCm39) missense probably damaging 0.96
R6130:Igf2bp1 UTSW 11 95,864,846 (GRCm39) missense probably damaging 1.00
R6736:Igf2bp1 UTSW 11 95,863,948 (GRCm39) missense probably benign 0.14
R7173:Igf2bp1 UTSW 11 95,859,290 (GRCm39) missense probably benign
R7748:Igf2bp1 UTSW 11 95,858,413 (GRCm39) missense probably benign 0.03
R8722:Igf2bp1 UTSW 11 95,861,606 (GRCm39) missense possibly damaging 0.65
Posted On 2016-08-02