Incidental Mutation 'R5768:Msi2'
ID 446396
Institutional Source Beutler Lab
Gene Symbol Msi2
Ensembl Gene ENSMUSG00000069769
Gene Name musashi RNA-binding protein 2
Synonyms Musashi2, msi2h
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5768 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 88230208-88609197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88608564 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2 (F2L)
Ref Sequence ENSEMBL: ENSMUSP00000119684 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107908] [ENSMUST00000107909] [ENSMUST00000144699]
AlphaFold Q920Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000092794
AA Change: F24L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: F24L

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: ENSMUST00000107908
AA Change: F24L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103541
Gene: ENSMUSG00000069769
AA Change: F24L

DomainStartEndE-ValueType
RRM 22 94 3.53e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000107909
AA Change: F24L

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: F24L

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: ENSMUST00000125967
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126293
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136201
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138007
Predicted Effect probably damaging
Transcript: ENSMUST00000144699
AA Change: F2L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119684
Gene: ENSMUSG00000069769
AA Change: F2L

DomainStartEndE-ValueType
RRM 1 72 8.31e-21 SMART
internal_repeat_1 90 113 1.41e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138790
Meta Mutation Damage Score 0.7359 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tchh A T 3: 93,353,488 (GRCm39) E976V unknown Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A 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
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
T0722:Msi2 UTSW 11 88,285,423 (GRCm39) missense probably damaging 1.00
Z1176:Msi2 UTSW 11 88,239,618 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATTCAGCAACAGAGGTCGC -3'
(R):5'- TCCGCTATGGAGGCAAATGG -3'

Sequencing Primer
(F):5'- GGGCTCGGAAAGGATTTGC -3'
(R):5'- GTAAGTTTCCAGCCGCTGC -3'
Posted On 2016-11-21