Incidental Mutation 'R5638:Igf2bp3'
ID 440486
Institutional Source Beutler Lab
Gene Symbol Igf2bp3
Ensembl Gene ENSMUSG00000029814
Gene Name insulin-like growth factor 2 mRNA binding protein 3
Synonyms 2610101N11Rik, IMP3, Koc13
MMRRC Submission 043168-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5638 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 49062157-49191891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 49064734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 537 (V537F)
Ref Sequence ENSEMBL: ENSMUSP00000031838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031838] [ENSMUST00000114500] [ENSMUST00000128616]
AlphaFold Q9CPN8
Predicted Effect probably damaging
Transcript: ENSMUST00000031838
AA Change: V537F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814
AA Change: V537F

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 probably benign
Transcript: ENSMUST00000114500
SMART Domains Protein: ENSMUSP00000110144
Gene: ENSMUSG00000029815

DomainStartEndE-ValueType
Pfam:Oligomerisation 18 69 9.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128616
SMART Domains Protein: ENSMUSP00000122941
Gene: ENSMUSG00000029815

DomainStartEndE-ValueType
low complexity region 14 26 N/A INTRINSIC
Pfam:Oligomerisation 94 195 3.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139726
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205243
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik G A 10: 76,288,729 (GRCm39) A96T probably benign Het
A930018M24Rik T C 14: 51,134,414 (GRCm39) D76G possibly damaging Het
Adamtsl3 A T 7: 82,260,958 (GRCm39) R1631W probably damaging Het
Alg5 C T 3: 54,646,254 (GRCm39) H40Y probably benign Het
B3galt1 T C 2: 67,949,095 (GRCm39) L270P probably damaging Het
Ceacam3 A G 7: 16,893,860 (GRCm39) Y457C probably damaging Het
Cenpa A T 5: 30,830,736 (GRCm39) R124W probably damaging Het
Cfap44 A G 16: 44,275,894 (GRCm39) T1385A possibly damaging Het
Chd9 A T 8: 91,738,078 (GRCm39) H1570L possibly damaging Het
Cmtm4 T C 8: 105,084,356 (GRCm39) I113V probably benign Het
Dmxl1 T C 18: 50,024,693 (GRCm39) I1789T possibly damaging Het
Dpf3 G A 12: 83,371,714 (GRCm39) R174W probably damaging Het
Dusp26 T C 8: 31,584,169 (GRCm39) L92P probably damaging Het
Fndc7 T A 3: 108,770,208 (GRCm39) T659S possibly damaging Het
Fry A G 5: 150,282,546 (GRCm39) H357R possibly damaging Het
G0s2 A T 1: 192,954,859 (GRCm39) L75H probably damaging Het
Gm5493 A G 17: 22,969,065 (GRCm39) T82A probably benign Het
Herc2 T C 7: 55,854,164 (GRCm39) V3690A probably benign Het
Kntc1 C T 5: 123,956,538 (GRCm39) R2101W possibly damaging Het
Kpna2rt T C 17: 90,217,635 (GRCm39) E37G probably damaging Het
Mrgpra6 G T 7: 46,835,657 (GRCm39) P255T probably damaging Het
Ncor2 A G 5: 125,125,364 (GRCm39) V229A probably benign Het
Nos1ap T A 1: 170,176,968 (GRCm39) K145M probably damaging Het
Or6c210 T A 10: 129,495,969 (GRCm39) I98K possibly damaging Het
Or7g21 T A 9: 19,032,676 (GRCm39) C142S probably benign Het
Ppt2 C A 17: 34,844,823 (GRCm39) M140I probably benign Het
Ppwd1 A G 13: 104,356,906 (GRCm39) I203T probably damaging Het
Prpf6 A G 2: 181,287,381 (GRCm39) T589A probably benign Het
Psd4 T C 2: 24,287,427 (GRCm39) L453P probably benign Het
Ptpn14 A G 1: 189,519,038 (GRCm39) T23A probably damaging Het
Rxrb T C 17: 34,256,381 (GRCm39) L374P probably damaging Het
Scaf4 T C 16: 90,041,198 (GRCm39) E710G unknown Het
Sik1 C T 17: 32,069,802 (GRCm39) V216I probably damaging Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc30a5 T A 13: 100,950,380 (GRCm39) K236* probably null Het
Slc38a4 A C 15: 96,910,871 (GRCm39) S135A probably damaging Het
Slc9a1 T A 4: 133,139,571 (GRCm39) V263D probably damaging Het
Socs2 T C 10: 95,228,745 (GRCm39) I168M unknown Het
Spag9 C A 11: 93,959,838 (GRCm39) D342E probably damaging Het
Sspo T C 6: 48,469,825 (GRCm39) S4508P possibly damaging Het
Stat5b C A 11: 100,675,080 (GRCm39) E710* probably null Het
Stip1 G A 19: 7,009,883 (GRCm39) P213L probably damaging Het
Tarbp1 A T 8: 127,177,425 (GRCm39) L749Q probably damaging Het
Thsd7b T G 1: 129,523,270 (GRCm39) S24R probably benign Het
Upp2 T C 2: 58,680,107 (GRCm39) V293A probably damaging Het
Vmn2r65 C T 7: 84,590,047 (GRCm39) C623Y probably damaging Het
Vps54 T C 11: 21,258,799 (GRCm39) V742A probably damaging Het
Other mutations in Igf2bp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02199:Igf2bp3 APN 6 49,065,458 (GRCm39) missense probably benign 0.02
IGL02473:Igf2bp3 APN 6 49,071,163 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers PCR Primer
(F):5'- GCTCAAAGGAAAACTAGATGTGCC -3'
(R):5'- GGATACACGAGCTCTGTGAAGG -3'

Sequencing Primer
(F):5'- CTCTGGAGCCTAGGAGTTCAAG -3'
(R):5'- CTGTGAAGGCAGAGCTGTG -3'
Posted On 2016-11-08