Incidental Mutation 'R2208:Msi2'
ID 236786
Institutional Source Beutler Lab
Gene Symbol Msi2
Ensembl Gene ENSMUSG00000069769
Gene Name musashi RNA-binding protein 2
Synonyms Musashi2, msi2h
MMRRC Submission 040210-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2208 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 88230208-88609197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88480934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 118 (S118T)
Ref Sequence ENSEMBL: ENSMUSP00000103542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092794] [ENSMUST00000107909] [ENSMUST00000144699]
AlphaFold Q920Q6
Predicted Effect probably damaging
Transcript: ENSMUST00000092794
AA Change: S118T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: S118T

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: S118T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: S118T

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: ENSMUST00000138790
Predicted Effect probably damaging
Transcript: ENSMUST00000144699
AA Change: S96T

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119684
Gene: ENSMUSG00000069769
AA Change: S96T

DomainStartEndE-ValueType
RRM 1 72 8.31e-21 SMART
internal_repeat_1 90 113 1.41e-5 PROSPERO
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148013
Meta Mutation Damage Score 0.3011 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,995,096 (GRCm39) V5460A probably benign Het
Bco2 A G 9: 50,444,755 (GRCm39) V517A probably damaging Het
Brca2 T A 5: 150,455,809 (GRCm39) D183E probably damaging Het
Ccdc142 T C 6: 83,084,941 (GRCm39) probably null Het
Ccdc39 A G 3: 33,895,327 (GRCm39) L34P probably damaging Het
Cdc42bpb T A 12: 111,302,463 (GRCm39) H198L probably damaging Het
Cdc73 T A 1: 143,485,120 (GRCm39) E516V probably damaging Het
Cep170b T A 12: 112,705,419 (GRCm39) L1059Q probably benign Het
Chrm1 T C 19: 8,655,463 (GRCm39) L56P probably damaging Het
Clec4d T A 6: 123,242,314 (GRCm39) V22D probably damaging Het
Cplane1 T A 15: 8,223,887 (GRCm39) N883K probably benign Het
Cyp2c39 T C 19: 39,549,405 (GRCm39) Y308H possibly damaging Het
Cyp2d12 T C 15: 82,441,137 (GRCm39) L141P probably damaging Het
Cyp4x1 G T 4: 114,983,791 (GRCm39) Q85K probably benign Het
Dpysl5 G A 5: 30,948,941 (GRCm39) D399N probably damaging Het
Enpp7 T C 11: 118,879,588 (GRCm39) probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fitm2 T A 2: 163,314,604 (GRCm39) probably benign Het
Gng10 T A 4: 59,035,314 (GRCm39) I26N possibly damaging Het
Gpr33 C T 12: 52,070,236 (GRCm39) V268I probably benign Het
Hmcn2 G A 2: 31,270,309 (GRCm39) C1182Y probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Krt36 C T 11: 99,993,765 (GRCm39) V358M probably damaging Het
Lmod3 T C 6: 97,224,838 (GRCm39) I328V probably benign Het
Lrp8 T C 4: 107,712,987 (GRCm39) V580A probably damaging Het
Masp2 T C 4: 148,698,872 (GRCm39) I651T probably damaging Het
Mnd1 C A 3: 84,041,416 (GRCm39) C62F probably benign Het
Muc19 T C 15: 91,755,747 (GRCm39) noncoding transcript Het
Nabp1 G A 1: 51,516,773 (GRCm39) R32* probably null Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Nup88 T C 11: 70,856,545 (GRCm39) D196G probably damaging Het
Or11h4b T C 14: 50,919,020 (GRCm39) I24V probably benign Het
Pax1 T A 2: 147,207,722 (GRCm39) I198N probably damaging Het
Pde3a A G 6: 141,196,073 (GRCm39) E253G probably damaging Het
Phldb1 C T 9: 44,607,428 (GRCm39) R1192Q probably damaging Het
Pianp C A 6: 124,976,602 (GRCm39) P137Q probably damaging Het
Prdm15 A C 16: 97,600,464 (GRCm39) probably null Het
Ptprf A T 4: 118,126,369 (GRCm39) probably benign Het
Rfx7 A G 9: 72,525,246 (GRCm39) D812G probably benign Het
Rgs22 T C 15: 36,050,378 (GRCm39) T691A probably benign Het
Rundc3a A T 11: 102,292,914 (GRCm39) S436C probably damaging Het
Sntb1 T C 15: 55,769,714 (GRCm39) T92A possibly damaging Het
Tars3 T C 7: 65,332,596 (GRCm39) S566P probably damaging Het
Tbc1d32 A T 10: 56,026,888 (GRCm39) probably null Het
Tep1 T C 14: 51,104,321 (GRCm39) Q191R probably benign Het
Tmc2 C A 2: 130,056,483 (GRCm39) probably null Het
Tns1 A C 1: 74,118,399 (GRCm39) I77S probably damaging Het
Trpd52l3 T C 19: 29,981,646 (GRCm39) W134R probably damaging Het
Vmn2r15 A C 5: 109,445,309 (GRCm39) N38K possibly damaging Het
Wdr90 A T 17: 26,079,362 (GRCm39) D257E probably damaging Het
Zbtb9 T C 17: 27,193,098 (GRCm39) C168R possibly damaging Het
Zfp1004 T A 2: 150,035,065 (GRCm39) V462E 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
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
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'- AAGCCAGACTCTTCCACTTC -3'
(R):5'- AATGGTCTGGTCCAAGAGGC -3'

Sequencing Primer
(F):5'- CGGCTCCTGGAGTTTCACATAAATAC -3'
(R):5'- CTAGCACAGGTTGTAGACTGC -3'
Posted On 2014-10-02