Incidental Mutation 'P0027:Msi2'
ID8021
Institutional Source Beutler Lab
Gene Symbol Msi2
Ensembl Gene ENSMUSG00000069769
Gene Namemusashi RNA-binding protein 2
Synonymsmsi2h, Musashi2
MMRRC Submission 038280-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #P0027 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location88339382-88718513 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88394597 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 207 (M207K)
Ref Sequence ENSEMBL: ENSMUSP00000103542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107909]
Predicted Effect probably damaging
Transcript: ENSMUST00000092794
AA Change: M207K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: M207K

DomainStartEndE-ValueType
RRM 22 94 3.53e-24 SMART
RRM 111 183 1.62e-23 SMART
low complexity region 241 260 N/A INTRINSIC
low complexity region 275 290 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107909
AA Change: M207K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: M207K

DomainStartEndE-ValueType
RRM 22 94 3.53e-24 SMART
RRM 111 183 1.62e-23 SMART
low complexity region 241 260 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148013
Meta Mutation Damage Score 0.3774 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 72.9%
  • 10x: 45.3%
  • 20x: 23.4%
Validation Efficiency 93% (53/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit lethality, decreased body size, and decreased hematopoietic stem cells. Mice homozygous for a conditional knock-out allele exhibit impaired hematopoietic stem cell physiology upon induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ftsj3 C A 11: 106,254,808 M66I possibly damaging Het
Kdm2a C T 19: 4,343,245 probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Lims1 A G 10: 58,418,455 N344D probably benign Het
Marco A T 1: 120,474,712 W502R probably damaging Het
Ms4a10 T C 19: 10,964,128 D159G probably damaging Het
Myh15 C T 16: 49,081,208 T249I possibly damaging Het
Nap1l5 T A 6: 58,906,825 N48I probably damaging Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Phactr4 G C 4: 132,371,090 T252R probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Yif1b T C 7: 29,238,613 probably null Het
Other mutations in Msi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Mikimoto UTSW 11 88366784 critical splice donor site probably null
mixmaster UTSW 11 88716580 missense probably damaging 1.00
miyamoto UTSW 11 88716580 missense probably damaging 1.00
R1366:Msi2 UTSW 11 88716580 missense probably damaging 1.00
R2208:Msi2 UTSW 11 88590108 missense probably damaging 1.00
R2414:Msi2 UTSW 11 88716547 missense probably damaging 1.00
R4151:Msi2 UTSW 11 88718044 missense probably damaging 1.00
R4166:Msi2 UTSW 11 88347088 missense probably benign 0.29
R4494:Msi2 UTSW 11 88717359 missense possibly damaging 0.91
R4647:Msi2 UTSW 11 88718038 missense possibly damaging 0.83
R4952:Msi2 UTSW 11 88366784 critical splice donor site probably null
R4975:Msi2 UTSW 11 88394655 missense probably damaging 1.00
R5441:Msi2 UTSW 11 88479992 splice site probably benign
R5441:Msi2 UTSW 11 88718095 intron probably benign
R5715:Msi2 UTSW 11 88386063 missense probably damaging 1.00
R5768:Msi2 UTSW 11 88717738 missense probably damaging 1.00
R7297:Msi2 UTSW 11 88480038 missense probably damaging 0.97
R7505:Msi2 UTSW 11 88413917 missense possibly damaging 0.89
T0722:Msi2 UTSW 11 88394597 missense probably damaging 1.00
Z1176:Msi2 UTSW 11 88348792 missense probably damaging 1.00
Posted On2012-11-20