Incidental Mutation 'R6959:Igf2bp3'
ID 568358
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 045069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6959 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 49062157-49191891 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 49094082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000031838 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031838]
AlphaFold Q9CPN8
Predicted Effect probably null
Transcript: ENSMUST00000031838
SMART Domains Protein: ENSMUSP00000031838
Gene: ENSMUSG00000029814

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 94% (61/65)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik G A 11: 70,507,485 (GRCm39) G177R probably damaging Het
Arhgef12 T C 9: 42,927,249 (GRCm39) T292A probably benign Het
Atp11a T A 8: 12,870,467 (GRCm39) D173E probably damaging Het
Bltp1 T G 3: 37,021,338 (GRCm39) V2154G probably damaging Het
Btnl2 G A 17: 34,582,333 (GRCm39) V300M possibly damaging Het
Calcrl A T 2: 84,200,428 (GRCm39) N117K possibly damaging Het
Castor2 T C 5: 134,164,052 (GRCm39) S83P probably damaging Het
Ccdc196 A G 12: 78,249,070 (GRCm39) K139E probably damaging Het
Ccl22 A T 8: 95,473,528 (GRCm39) probably null Het
Cd200r1 T A 16: 44,610,539 (GRCm39) S216T probably damaging Het
Cdk5rap2 G A 4: 70,278,906 (GRCm39) probably null Het
Cfap157 A G 2: 32,674,260 (GRCm39) I47T probably damaging Het
Chodl G A 16: 78,743,572 (GRCm39) V220I probably damaging Het
Cntnap5b A G 1: 100,202,197 (GRCm39) E348G probably benign Het
Cstf3 A G 2: 104,479,807 (GRCm39) T225A probably benign Het
Duoxa1 T C 2: 122,134,318 (GRCm39) S267G probably damaging Het
Epb41l1 G A 2: 156,341,507 (GRCm39) S164N probably benign Het
Fat3 T C 9: 15,908,181 (GRCm39) D2607G possibly damaging Het
Galnt5 A G 2: 57,889,231 (GRCm39) D277G probably benign Het
Galnt6 A G 15: 100,612,006 (GRCm39) I212T probably damaging Het
Gm45861 T C 8: 28,038,213 (GRCm39) probably null Het
Gm5478 T C 15: 101,553,883 (GRCm39) D243G probably damaging Het
Gse1 A G 8: 121,297,710 (GRCm39) probably benign Het
Hspg2 A T 4: 137,246,600 (GRCm39) Q1096L probably benign Het
Hycc1 T C 5: 24,196,754 (GRCm39) I45V possibly damaging Het
Idh3b A G 2: 130,123,447 (GRCm39) V181A probably damaging Het
Ikzf2 A G 1: 69,577,929 (GRCm39) *382Q probably null Het
Impg2 A C 16: 56,088,693 (GRCm39) H1073P probably benign Het
Incenp T C 19: 9,854,134 (GRCm39) E639G unknown Het
Kcne4 A G 1: 78,795,603 (GRCm39) M84V probably benign Het
Ktn1 T A 14: 47,957,713 (GRCm39) F1004I probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Malrd1 A G 2: 16,222,820 (GRCm39) I2040V probably damaging Het
Mau2 T C 8: 70,485,878 (GRCm39) D110G probably damaging Het
Mei1 T C 15: 82,009,076 (GRCm39) V1237A probably benign Het
Mfsd11 T G 11: 116,752,495 (GRCm39) probably null Het
Ncapd2 A G 6: 125,145,883 (GRCm39) F1293L probably benign Het
Nf1 A G 11: 79,440,294 (GRCm39) T280A probably damaging Het
Obscn G T 11: 58,928,411 (GRCm39) A6085E probably damaging Het
Or51b6b T A 7: 103,310,050 (GRCm39) I136F probably damaging Het
Pdzd2 C T 15: 12,375,993 (GRCm39) A1381T probably benign Het
Pramel41 T A 5: 94,594,891 (GRCm39) N250K possibly damaging Het
Ralgapa2 A G 2: 146,184,621 (GRCm39) V1462A probably damaging Het
Rbx1 T A 15: 81,355,163 (GRCm39) C56* probably null Het
Reln A G 5: 22,181,562 (GRCm39) S1774P probably damaging Het
Ros1 T A 10: 52,040,090 (GRCm39) E300D probably damaging Het
Sarnp T C 10: 128,684,137 (GRCm39) V111A possibly damaging Het
Scube1 G T 15: 83,513,636 (GRCm39) Q345K probably benign Het
Slc18b1 A G 10: 23,701,942 (GRCm39) probably null Het
Slc37a2 T A 9: 37,152,630 (GRCm39) T64S probably benign Het
Slit2 A G 5: 48,395,727 (GRCm39) D710G possibly damaging Het
Srp72 T A 5: 77,142,070 (GRCm39) Y375N possibly damaging Het
Tmco4 T A 4: 138,737,810 (GRCm39) V135D probably damaging Het
Trim62 A G 4: 128,802,955 (GRCm39) D335G probably damaging Het
Tsfm T C 10: 126,858,778 (GRCm39) M196V probably benign Het
Tspan10 T A 11: 120,335,522 (GRCm39) C211S probably damaging Het
Ttc21b A T 2: 66,061,656 (GRCm39) M498K probably benign Het
Ttc6 A T 12: 57,704,928 (GRCm39) probably null Het
Ttll1 G T 15: 83,386,397 (GRCm39) Y69* probably null Het
Usp28 T A 9: 48,912,842 (GRCm39) L31H probably damaging Het
Vmn2r86 A G 10: 130,282,400 (GRCm39) S739P probably damaging Het
Wdr64 T A 1: 175,533,555 (GRCm39) F64I probably damaging Het
Ywhaq A G 12: 21,446,281 (GRCm39) probably null Het
Zfr T C 15: 12,150,409 (GRCm39) S459P 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
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
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'- TCATGTGAGACCAACAACGC -3'
(R):5'- TTGCCTACATCCCAGATGAAAC -3'

Sequencing Primer
(F):5'- CATGATCAGGTGACAAGGCTTCC -3'
(R):5'- TCCCAGATGAAACTGCTGC -3'
Posted On 2019-07-10