Incidental Mutation 'T0722:Msi2'
ID 67344
Institutional Source Beutler Lab
Gene Symbol Msi2
Ensembl Gene ENSMUSG00000069769
Gene Name musashi RNA-binding protein 2
Synonyms Musashi2, msi2h
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # T0722 (G3) of strain 711
Quality Score 217
Status Validated
Chromosome 11
Chromosomal Location 88230208-88609197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88285423 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q920Q6
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: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A G 12: 113,453,197 (GRCm39) T5A possibly damaging Het
Adam6b T A 12: 113,454,888 (GRCm39) D568E probably benign Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ago3 T G 4: 126,298,089 (GRCm39) T144P probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Atp6v1g3 T A 1: 138,201,591 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bicd2 C A 13: 49,533,127 (GRCm39) P571Q probably benign Het
Camta2 A G 11: 70,574,831 (GRCm39) I75T probably damaging Het
Casp1 A T 9: 5,299,851 (GRCm39) H108L probably benign Het
Cdk5r1 G T 11: 80,368,707 (GRCm39) V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Cngb1 A G 8: 96,023,278 (GRCm39) M240T probably benign Het
Cngb1 G A 8: 96,030,342 (GRCm39) probably benign Het
Cngb1 T C 8: 96,030,324 (GRCm39) probably benign Het
Cngb1 G T 8: 96,024,447 (GRCm39) Q205K probably damaging Het
Cog8 G T 8: 107,775,625 (GRCm39) L580I probably benign Het
Copa A G 1: 171,939,515 (GRCm39) E593G possibly damaging Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,456,755 (GRCm39) F696S probably benign Het
Ddi2 G A 4: 141,440,784 (GRCm39) probably benign Het
Eml5 T C 12: 98,807,841 (GRCm39) D984G probably null Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Fstl3 A G 10: 79,615,997 (GRCm39) Y161C probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm8186 C T 17: 26,318,101 (GRCm39) R32Q probably benign Het
Jakmip1 C A 5: 37,276,247 (GRCm39) A519D probably damaging Het
Jcad G T 18: 4,675,531 (GRCm39) A1098S probably benign Het
Klhl14 T C 18: 21,691,192 (GRCm39) Y446C probably damaging Het
Lims1 A G 10: 58,254,277 (GRCm39) N344D probably benign Het
Marco A T 1: 120,402,441 (GRCm39) W502R probably damaging Het
Mmp13 G T 9: 7,280,857 (GRCm39) M413I possibly damaging Het
Mmp25 G A 17: 23,850,192 (GRCm39) A456V possibly damaging Het
Myh8 G A 11: 67,195,262 (GRCm39) R1692Q probably benign Het
Nbas A G 12: 13,402,809 (GRCm39) I788V probably benign Het
Nup188 A G 2: 30,212,693 (GRCm39) D632G probably damaging Het
Opa1 T C 16: 29,429,748 (GRCm39) probably null Het
Or12k7 T G 2: 36,958,449 (GRCm39) L44R probably damaging Het
Or1n2 T C 2: 36,797,582 (GRCm39) V208A probably benign Het
Or4c114 A G 2: 88,905,303 (GRCm39) V44A probably benign Het
Or5w17 T A 2: 87,583,467 (GRCm39) Y290F probably damaging Het
Pabpc1l G A 2: 163,884,340 (GRCm39) G359D possibly damaging Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Psma5-ps A G 10: 85,149,457 (GRCm39) noncoding transcript Het
Qser1 A G 2: 104,617,177 (GRCm39) C1122R possibly damaging Het
Rfx8 A G 1: 39,722,772 (GRCm39) S282P probably damaging Het
Sec14l2 C T 11: 4,053,673 (GRCm39) probably null Het
Sim2 C A 16: 93,910,281 (GRCm39) H228N probably benign Het
Slc15a2 A G 16: 36,772,445 (GRCm38) M179T probably benign Het
Slc30a6 T A 17: 74,719,319 (GRCm39) probably null Het
Smarcc1 G A 9: 110,035,153 (GRCm39) E859K possibly damaging Het
Snx1 CTT CTTGTT 9: 66,012,209 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Spta1 A G 1: 174,018,632 (GRCm39) probably benign Het
Sytl1 C A 4: 132,984,162 (GRCm39) probably benign Het
Sytl1 A G 4: 132,984,164 (GRCm39) probably benign Het
Tent4a G A 13: 69,655,074 (GRCm39) R224* probably null Het
Terf2 T C 8: 107,803,306 (GRCm39) K425E probably benign Het
Tmem26 A G 10: 68,614,548 (GRCm39) E321G probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Uck2 A T 1: 167,062,280 (GRCm39) D149E probably benign Het
Wnt5a G A 14: 28,233,882 (GRCm39) A17T probably benign Het
Yif1b T C 7: 28,938,038 (GRCm39) probably null Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Other mutations in Msi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Mikimoto UTSW 11 88,257,610 (GRCm39) critical splice donor site probably null
Mixmaster UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
miyamoto UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
P0027:Msi2 UTSW 11 88,285,423 (GRCm39) missense probably damaging 1.00
R1366:Msi2 UTSW 11 88,607,406 (GRCm39) missense probably damaging 1.00
R2208:Msi2 UTSW 11 88,480,934 (GRCm39) missense probably damaging 1.00
R2414:Msi2 UTSW 11 88,607,373 (GRCm39) missense probably damaging 1.00
R4151:Msi2 UTSW 11 88,608,870 (GRCm39) missense probably damaging 1.00
R4166:Msi2 UTSW 11 88,237,914 (GRCm39) missense probably benign 0.29
R4494:Msi2 UTSW 11 88,608,185 (GRCm39) missense possibly damaging 0.91
R4647:Msi2 UTSW 11 88,608,864 (GRCm39) missense possibly damaging 0.83
R4952:Msi2 UTSW 11 88,257,610 (GRCm39) critical splice donor site probably null
R4975:Msi2 UTSW 11 88,285,481 (GRCm39) missense probably damaging 1.00
R5441:Msi2 UTSW 11 88,608,921 (GRCm39) intron probably benign
R5441:Msi2 UTSW 11 88,370,818 (GRCm39) splice site probably benign
R5715:Msi2 UTSW 11 88,276,889 (GRCm39) missense probably damaging 1.00
R5768:Msi2 UTSW 11 88,608,564 (GRCm39) missense probably damaging 1.00
R7297:Msi2 UTSW 11 88,370,864 (GRCm39) missense probably damaging 0.97
R7505:Msi2 UTSW 11 88,304,743 (GRCm39) missense possibly damaging 0.89
R9157:Msi2 UTSW 11 88,608,889 (GRCm39) missense probably benign 0.04
Z1176:Msi2 UTSW 11 88,239,618 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGTTTGCCCAACTGCCAGG -3'
(R):5'- TGCAGGCCATTTACTCAGCACAG -3'

Sequencing Primer
(F):5'- AACTGCCAGGTGACTCAGG -3'
(R):5'- CTCAGCACAGCTATTTTTACAGTG -3'
Posted On 2013-09-03