Incidental Mutation 'IGL02473:Igf2bp3'
ID 294818
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf2bp3
Ensembl Gene ENSMUSG00000029814
Gene Name insulin-like growth factor 2 mRNA binding protein 3
Synonyms 2610101N11Rik, IMP3, Koc13
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02473
Quality Score
Status
Chromosome 6
Chromosomal Location 49062157-49191891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 49071163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 411 (F411L)
Ref Sequence ENSEMBL: ENSMUSP00000031838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031838]
AlphaFold Q9CPN8
Predicted Effect probably benign
Transcript: ENSMUST00000031838
AA Change: F411L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814
AA Change: F411L

DomainStartEndE-ValueType
RRM 3 71 1.96e-8 SMART
RRM 82 152 3.92e-8 SMART
low complexity region 164 182 N/A INTRINSIC
KH 194 265 3.01e-11 SMART
KH 275 348 1.51e-16 SMART
low complexity region 377 398 N/A INTRINSIC
KH 404 475 2.16e-12 SMART
KH 486 558 1.66e-13 SMART
low complexity region 559 570 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205057
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is primarily found in the nucleolus, where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development. The encoded protein contains several KH domains, which are important in RNA binding and are known to be involved in RNA synthesis and metabolism. A pseudogene exists on chromosome 7, and there are putative pseudogenes on other chromosomes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730480H06Rik G A 5: 48,545,440 (GRCm39) probably benign Het
9030624G23Rik A G 12: 24,094,853 (GRCm39) F106S probably benign Het
A930011G23Rik T C 5: 99,370,854 (GRCm39) Y468C probably damaging Het
Abcd3 T C 3: 121,562,893 (GRCm39) T515A possibly damaging Het
Acrbp A G 6: 125,031,661 (GRCm39) T321A probably benign Het
Aldh2 T C 5: 121,710,141 (GRCm39) Y398C probably damaging Het
Baz2b T A 2: 59,790,407 (GRCm39) D602V probably benign Het
Ccdc191 T C 16: 43,777,257 (GRCm39) V714A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntn2 A G 1: 132,446,069 (GRCm39) L839P probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cyp3a16 T C 5: 145,377,304 (GRCm39) I428V possibly damaging Het
Dnah7b A T 1: 46,273,353 (GRCm39) T2494S probably damaging Het
Dnaja3 T A 16: 4,519,104 (GRCm39) Y348* probably null Het
Dnajb3 C A 1: 88,133,104 (GRCm39) E99D probably benign Het
L3mbtl4 A T 17: 68,866,772 (GRCm39) Y337F possibly damaging Het
Lias A G 5: 65,562,745 (GRCm39) T258A possibly damaging Het
Lipk T A 19: 34,016,548 (GRCm39) C254S probably damaging Het
Map4k1 T C 7: 28,699,297 (GRCm39) L596S probably damaging Het
Mdga2 T C 12: 66,597,385 (GRCm39) E703G possibly damaging Het
Mreg A G 1: 72,201,495 (GRCm39) Y166H probably damaging Het
Or2f1b A G 6: 42,739,640 (GRCm39) Y218C probably damaging Het
Or4b1b T C 2: 90,112,040 (GRCm39) K293R probably null Het
Pcgf2 A G 11: 97,582,747 (GRCm39) probably benign Het
Prdm15 T C 16: 97,638,805 (GRCm39) probably null Het
Rnf111 A G 9: 70,348,140 (GRCm39) V810A probably damaging Het
Rpl23a-ps1 A T 1: 46,020,951 (GRCm39) noncoding transcript Het
Smc3 C A 19: 53,624,879 (GRCm39) A779E probably benign Het
Smtn C T 11: 3,482,463 (GRCm39) G140D probably damaging Het
Son T C 16: 91,455,683 (GRCm39) S1477P probably damaging Het
Strn T C 17: 78,991,722 (GRCm39) D20G possibly damaging Het
Tektl1 A T 10: 78,586,428 (GRCm39) S208T probably benign Het
Tnxb T C 17: 34,936,736 (GRCm39) L2798P probably damaging Het
Ttn A C 2: 76,775,896 (GRCm39) N1715K probably damaging Het
Vps33a A T 5: 123,707,634 (GRCm39) I111N probably damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zscan4d A T 7: 10,896,336 (GRCm39) C345S probably benign Het
Other mutations in Igf2bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Igf2bp3 APN 6 49,065,458 (GRCm39) missense probably benign 0.02
IGL02957:Igf2bp3 APN 6 49,064,338 (GRCm39) missense probably benign 0.28
bittie UTSW 6 49,084,362 (GRCm39) missense possibly damaging 0.61
bump UTSW 6 49,094,084 (GRCm39) critical splice donor site probably benign
PIT4131001:Igf2bp3 UTSW 6 49,094,084 (GRCm39) critical splice donor site probably null
PIT4142001:Igf2bp3 UTSW 6 49,094,317 (GRCm39) missense probably damaging 0.98
R0207:Igf2bp3 UTSW 6 49,082,551 (GRCm39) missense probably benign 0.03
R0541:Igf2bp3 UTSW 6 49,084,401 (GRCm39) splice site probably benign
R1710:Igf2bp3 UTSW 6 49,082,565 (GRCm39) missense probably damaging 1.00
R1764:Igf2bp3 UTSW 6 49,085,980 (GRCm39) missense probably damaging 1.00
R2156:Igf2bp3 UTSW 6 49,085,858 (GRCm39) critical splice donor site probably null
R2207:Igf2bp3 UTSW 6 49,065,488 (GRCm39) missense possibly damaging 0.92
R5638:Igf2bp3 UTSW 6 49,064,734 (GRCm39) missense probably damaging 1.00
R5899:Igf2bp3 UTSW 6 49,094,084 (GRCm39) critical splice donor site probably benign
R6108:Igf2bp3 UTSW 6 49,094,308 (GRCm39) missense probably damaging 1.00
R6243:Igf2bp3 UTSW 6 49,084,362 (GRCm39) missense possibly damaging 0.61
R6340:Igf2bp3 UTSW 6 49,191,393 (GRCm39) missense probably damaging 1.00
R6959:Igf2bp3 UTSW 6 49,094,082 (GRCm39) splice site probably null
R7380:Igf2bp3 UTSW 6 49,085,933 (GRCm39) missense probably benign 0.27
R7731:Igf2bp3 UTSW 6 49,111,665 (GRCm39) missense probably damaging 0.99
R8004:Igf2bp3 UTSW 6 49,067,954 (GRCm39) missense probably benign
R8727:Igf2bp3 UTSW 6 49,086,009 (GRCm39) splice site probably benign
R8861:Igf2bp3 UTSW 6 49,082,550 (GRCm39) missense possibly damaging 0.93
R8902:Igf2bp3 UTSW 6 49,065,365 (GRCm39) missense probably damaging 0.99
R9655:Igf2bp3 UTSW 6 49,064,338 (GRCm39) missense probably benign 0.44
Z1177:Igf2bp3 UTSW 6 49,191,362 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16