Incidental Mutation 'R2414:Msi2'
| ID |
250111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Msi2
|
| Ensembl Gene |
ENSMUSG00000069769 |
| Gene Name |
musashi RNA-binding protein 2 |
| Synonyms |
Musashi2, msi2h |
| MMRRC Submission |
040378-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2414 (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 88607373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 78
(V78A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092794]
[ENSMUST00000107908]
[ENSMUST00000107909]
[ENSMUST00000144699]
|
| AlphaFold |
Q920Q6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092794
AA Change: V78A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090470
Gene: ENSMUSG00000069769
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
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: V78A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103541
Gene: ENSMUSG00000069769
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
94 |
3.53e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107909
AA Change: V78A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103542
Gene: ENSMUSG00000069769
AA Change: V78A
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
noncoding transcript
Transcript: ENSMUST00000138790
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000144699
AA Change: V56A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000119684
Gene: ENSMUSG00000069769
AA Change: V56A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
1 |
72 |
8.31e-21 |
SMART |
|
internal_repeat_1
|
90 |
113 |
1.41e-5 |
PROSPERO |
|
| Meta Mutation Damage Score |
0.3304 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
100% (38/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
C |
A |
9: 121,738,040 (GRCm39) |
S138R |
probably damaging |
Het |
| Alpk3 |
C |
A |
7: 80,742,501 (GRCm39) |
P773T |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,687,424 (GRCm39) |
E216G |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| AU040320 |
A |
T |
4: 126,762,484 (GRCm39) |
|
probably null |
Het |
| BC002059 |
T |
C |
17: 17,193,932 (GRCm39) |
|
noncoding transcript |
Het |
| Cep112 |
A |
G |
11: 108,643,408 (GRCm39) |
N799S |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,181,927 (GRCm39) |
|
probably benign |
Het |
| Cpn2 |
T |
C |
16: 30,079,392 (GRCm39) |
E103G |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,304,283 (GRCm39) |
|
probably benign |
Het |
| Epor |
T |
A |
9: 21,870,785 (GRCm39) |
D365V |
probably damaging |
Het |
| H2bc21 |
T |
A |
3: 96,128,750 (GRCm39) |
I90N |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,306 (GRCm39) |
Y900H |
probably damaging |
Het |
| Hoxc9 |
A |
T |
15: 102,892,540 (GRCm39) |
N251I |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,315,587 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,688,711 (GRCm39) |
I197L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,594 (GRCm39) |
I818V |
probably benign |
Het |
| Nol4 |
T |
C |
18: 22,956,629 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
A |
G |
6: 140,496,582 (GRCm39) |
N362S |
probably damaging |
Het |
| Polr1b |
A |
G |
2: 128,945,054 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,289,831 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
A |
G |
15: 80,890,946 (GRCm39) |
N136D |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,181,976 (GRCm39) |
C583R |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,806,295 (GRCm39) |
W13R |
probably damaging |
Het |
| Tesk2 |
T |
C |
4: 116,658,954 (GRCm39) |
W276R |
possibly damaging |
Het |
| Tmem8b |
A |
G |
4: 43,673,892 (GRCm39) |
|
probably benign |
Het |
| Togaram2 |
T |
G |
17: 72,023,304 (GRCm39) |
|
probably benign |
Het |
| Ttll11 |
A |
G |
2: 35,869,546 (GRCm39) |
S31P |
unknown |
Het |
| Ttll8 |
A |
G |
15: 88,820,336 (GRCm39) |
|
probably benign |
Het |
| Tub |
A |
G |
7: 108,626,240 (GRCm39) |
K259E |
probably damaging |
Het |
| Ube2o |
T |
C |
11: 116,439,683 (GRCm39) |
I162M |
probably benign |
Het |
| Vamp8 |
C |
T |
6: 72,365,326 (GRCm39) |
M1I |
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,036,032 (GRCm39) |
G295* |
probably null |
Het |
|
| Other mutations in Msi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- AACTCGCTAGCTGTTTAAAAGTACC -3'
(R):5'- TTTACCTCTTGAGGCAGAGGG -3'
Sequencing Primer
(F):5'- GCTGTTTAAAAGTACCCAGTTCTAGC -3'
(R):5'- CAGAGGGCTGTGGGTTAGAG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation