Incidental Mutation 'R0534:Igf2bp1'
ID 49379
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 038726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # R0534 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 95847989-95896766 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 95857622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000013559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013559]
AlphaFold O88477
Predicted Effect probably benign
Transcript: ENSMUST00000013559
SMART Domains Protein: ENSMUSP00000013559
Gene: ENSMUSG00000013415

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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
Cand2 A G 6: 115,764,197 (GRCm39) M324V probably damaging Het
Cap1 C T 4: 122,756,512 (GRCm39) V340M probably benign Het
Ccdc110 T C 8: 46,388,175 (GRCm39) V44A possibly damaging Het
Cps1 A G 1: 67,183,059 (GRCm39) D139G probably benign Het
Cwc27 T A 13: 104,768,124 (GRCm39) E457V unknown Het
Cxxc1 C T 18: 74,351,962 (GRCm39) P280S probably benign Het
Dennd2b A T 7: 109,140,635 (GRCm39) V197D probably damaging Het
Dop1b T A 16: 93,559,393 (GRCm39) L595Q probably benign Het
Dscam G T 16: 96,453,372 (GRCm39) S1292R possibly damaging Het
E2f4 C A 8: 106,030,851 (GRCm39) F353L probably damaging Het
Ep300 A G 15: 81,485,097 (GRCm39) probably benign Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
Fign T A 2: 63,811,135 (GRCm39) H45L probably damaging Het
Flcn T A 11: 59,685,025 (GRCm39) probably benign Het
Gm5141 A T 13: 62,922,408 (GRCm39) F254I probably damaging Het
Gpbp1l1 T A 4: 116,448,465 (GRCm39) N402K probably damaging Het
Gpr37 A T 6: 25,669,823 (GRCm39) C340* probably null Het
Gtf3c2 A T 5: 31,315,476 (GRCm39) probably benign Het
Hcfc2 T A 10: 82,574,242 (GRCm39) F139I probably damaging Het
Hectd4 T C 5: 121,486,539 (GRCm39) L3178P possibly damaging Het
Igsf9b T G 9: 27,244,358 (GRCm39) probably null Het
Il23r G A 6: 67,403,572 (GRCm39) A443V probably benign Het
Kcnv1 A G 15: 44,972,645 (GRCm39) F413L probably damaging Het
Lipe C A 7: 25,087,611 (GRCm39) A150S possibly damaging Het
Lrrcc1 T C 3: 14,622,333 (GRCm39) S557P probably damaging Het
Mrpl54 C A 10: 81,102,687 (GRCm39) W13L probably damaging Het
Mtcl3 T A 10: 29,056,952 (GRCm39) probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Npy1r C A 8: 67,157,670 (GRCm39) Q327K probably damaging Het
Nt5el C A 13: 105,218,762 (GRCm39) S32* probably null Het
Or51b17 C T 7: 103,542,438 (GRCm39) R168H probably benign Het
Osbpl10 C T 9: 114,996,246 (GRCm39) L139F probably damaging Het
P2rx6 A C 16: 17,385,768 (GRCm39) T199P probably damaging Het
Phyhip A T 14: 70,699,199 (GRCm39) M1L possibly damaging Het
Pkd1l3 C G 8: 110,350,281 (GRCm39) D375E possibly damaging Het
Psmc1 T A 12: 100,086,389 (GRCm39) I342N possibly damaging Het
Reln A T 5: 22,152,406 (GRCm39) D2353E probably damaging Het
Rmdn3 T C 2: 118,976,851 (GRCm39) E294G probably benign Het
Scnn1g A G 7: 121,366,647 (GRCm39) M615V probably benign Het
Shcbp1l T A 1: 153,304,314 (GRCm39) D124E possibly damaging Het
Sipa1l1 T C 12: 82,472,054 (GRCm39) S1345P possibly damaging Het
Taf7l2 T C 10: 115,948,707 (GRCm39) E273G possibly damaging Het
Timp4 A G 6: 115,226,802 (GRCm39) Y114H probably damaging Het
Tlr9 T A 9: 106,102,086 (GRCm39) L459Q probably benign Het
Tmem104 C A 11: 115,091,654 (GRCm39) T59K probably damaging Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Zfp622 A T 15: 25,984,654 (GRCm39) I7F possibly damaging 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
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
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

Sequencing Primer
(R):5'- gctgtgaacttgtgatcctg -3'
Posted On 2013-06-12