Incidental Mutation 'R0011:Igf2bp1'
ID 98986
Institutional Source Beutler Lab
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
MMRRC Submission 038306-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R0011 (G1)
Quality Score 38
Status Validated
Chromosome 11
Chromosomal Location 95847989-95896766 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95896410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 17 (D17G)
Ref Sequence ENSEMBL: ENSMUSP00000013559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013559]
AlphaFold O88477
Predicted Effect probably damaging
Transcript: ENSMUST00000013559
AA Change: D17G

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415
AA Change: D17G

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: ENSMUST00000191263
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194862
Meta Mutation Damage Score 0.2989 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 100% (59/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,380,213 (GRCm39) Y344C probably damaging Het
Alox15 A G 11: 70,240,422 (GRCm39) V253A possibly damaging Het
Ank3 A G 10: 69,815,281 (GRCm39) probably benign Het
Art3 T A 5: 92,551,471 (GRCm39) Y17N probably damaging Het
Asic3 C T 5: 24,622,490 (GRCm39) probably benign Het
Bach2 G T 4: 32,244,655 (GRCm39) probably benign Het
Brip1 C A 11: 86,077,824 (GRCm39) K201N possibly damaging Het
Ccdc88a T C 11: 29,324,364 (GRCm39) F6S probably damaging Het
Cdcp3 T A 7: 130,831,722 (GRCm39) L389Q probably damaging Het
Celsr2 A G 3: 108,320,718 (GRCm39) I698T probably benign Het
Cenpf A G 1: 189,382,903 (GRCm39) S2664P probably benign Het
Cfap54 A T 10: 92,901,087 (GRCm39) C156S probably damaging Het
Cops4 C A 5: 100,675,847 (GRCm39) Q28K probably benign Het
Cyb5a T A 18: 84,895,947 (GRCm39) probably benign Het
Diaph3 A T 14: 87,103,844 (GRCm39) C847S probably damaging Het
Dnah3 T C 7: 119,618,924 (GRCm39) K1648R probably damaging Het
Dnai7 T A 6: 145,124,781 (GRCm39) M515L probably damaging Het
Emilin2 C T 17: 71,580,863 (GRCm39) G621E probably benign Het
Enpp1 T A 10: 24,545,900 (GRCm39) K228* probably null Het
Epg5 T C 18: 77,991,698 (GRCm39) C132R probably benign Het
Epha7 G A 4: 28,962,564 (GRCm39) D961N probably benign Het
G6pc2 C A 2: 69,056,909 (GRCm39) probably benign Het
Gm7361 C T 5: 26,463,876 (GRCm39) probably benign Het
Grin2c T C 11: 115,146,576 (GRCm39) Y476C probably damaging Het
Hnrnpul1 T G 7: 25,442,340 (GRCm39) probably benign Het
Insrr T C 3: 87,716,923 (GRCm39) C688R possibly damaging Het
Itgb2l T C 16: 96,228,861 (GRCm39) probably benign Het
Kidins220 T A 12: 25,049,351 (GRCm39) V322E probably damaging Het
Klk1 C T 7: 43,878,959 (GRCm39) T149I probably benign Het
Mbd3l1 A G 9: 18,395,863 (GRCm39) probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mrc1 T C 2: 14,266,148 (GRCm39) probably null Het
Mtr T C 13: 12,252,938 (GRCm39) probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Npy4r C T 14: 33,868,680 (GRCm39) V203M probably damaging Het
Or8g52 T A 9: 39,630,923 (GRCm39) N133K probably benign Het
Pik3r4 C A 9: 105,521,836 (GRCm39) T134K probably benign Het
Rdh19 T A 10: 127,692,780 (GRCm39) L149Q probably damaging Het
Sema3e C T 5: 14,194,025 (GRCm39) R85* probably null Het
Shtn1 A G 19: 59,020,650 (GRCm39) S191P possibly damaging Het
Slc39a11 A T 11: 113,138,659 (GRCm39) F279L probably benign Het
Slc4a1 T C 11: 102,247,936 (GRCm39) K353E possibly damaging Het
Slc6a18 A T 13: 73,813,738 (GRCm39) M515K possibly damaging Het
Snapc4 A G 2: 26,254,825 (GRCm39) I1225T probably benign Het
Spidr A T 16: 15,784,467 (GRCm39) W534R probably benign Het
Tmem202 T A 9: 59,432,084 (GRCm39) N81I probably benign Het
Tnfrsf1b T G 4: 144,949,536 (GRCm39) R297S possibly damaging Het
Trim55 A G 3: 19,725,163 (GRCm39) T227A probably benign Het
Trim58 A T 11: 58,533,946 (GRCm39) T167S probably benign Het
Trp53i11 A T 2: 93,029,698 (GRCm39) probably benign Het
Ttn T C 2: 76,640,699 (GRCm39) H5356R probably damaging Het
Tyrp1 C T 4: 80,759,030 (GRCm39) T301I probably damaging Het
Wdr17 A T 8: 55,125,536 (GRCm39) I448K possibly damaging Het
Wscd1 T C 11: 71,679,654 (GRCm39) V509A probably damaging Het
Zfp251 A G 15: 76,738,754 (GRCm39) V108A probably benign Het
Other mutations in Igf2bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02554:Igf2bp1 APN 11 95,864,994 (GRCm39) missense probably damaging 0.97
IGL03263:Igf2bp1 APN 11 95,857,499 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- GAATCGGGGAAACCACGCCTATAC -3'
(R):5'- GTGCGTAGAAAGTTTGCGGCTC -3'

Sequencing Primer
(F):5'- TGAGAcacccccacccc -3'
(R):5'- GCCTGGAACCGTGTCCTT -3'
Posted On 2014-01-10