Incidental Mutation 'IGL01350:Msi1'
| ID |
75324 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Msi1
|
| Ensembl Gene |
ENSMUSG00000054256 |
| Gene Name |
musashi RNA-binding protein 1 |
| Synonyms |
Msi1h, Musahi1, m-Msi-1, Msi1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
IGL01350
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
115567734-115593757 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115573580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 126
(K126R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120516
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000136586]
[ENSMUST00000150779]
|
| AlphaFold |
Q61474 |
| PDB Structure |
Solution structure of the N-terminal RNA-binding domain of mouse Musashi1 [SOLUTION NMR]
MUSASHI1 RBD2, NMR [SOLUTION NMR]
MUSASHI1 RBD2, NMR [SOLUTION NMR]
1H, 13C, and 15N Chemical Shift Assignments for Musashi1 RBD1:r(GUAGU) complex [SOLUTION NMR]
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000067168
AA Change: K99R
|
| SMART Domains |
Protein: ENSMUSP00000070415
Gene: ENSMUSG00000054256
AA Change: K99R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
2 |
67 |
7.47e-14 |
SMART |
|
RRM
|
84 |
156 |
4e-23 |
SMART |
|
low complexity region
|
258 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
304 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130849
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000131079
AA Change: K98R
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136586
AA Change: K23R
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143900
Gene: ENSMUSG00000054256
AA Change: K23R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
7 |
79 |
1.7e-25 |
SMART |
|
transmembrane domain
|
102 |
124 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145005
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145840
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000150779
AA Change: K126R
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120516
Gene: ENSMUSG00000054256
AA Change: K126R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
21 |
93 |
2e-23 |
SMART |
|
RRM
|
110 |
182 |
4e-23 |
SMART |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202251
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151444
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing two conserved tandem RNA recognition motifs. Similar proteins in other species function as RNA-binding proteins and play central roles in posttranscriptional gene regulation. Expression of this gene has been correlated with the grade of the malignancy and proliferative activity in gliomas and melanomas. A pseudogene for this gene is located on chromosome 11q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygous null mice develop hydrocephalus associated with progressive ventricular dilation, a large domed cranium, thin cerebral cortices, callosal agenesis, aberrant proliferation and polyposis of ependymal cells, intracerebral bleeding, ataxia, dehydration and death at 1-2 months of age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,187,208 (GRCm39) |
I926T |
probably benign |
Het |
| Adam39 |
T |
A |
8: 41,278,876 (GRCm39) |
C422* |
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,338 (GRCm39) |
N81S |
probably damaging |
Het |
| Amd1 |
A |
T |
10: 40,166,186 (GRCm39) |
Y264* |
probably null |
Het |
| Axl |
T |
C |
7: 25,458,175 (GRCm39) |
Y851C |
probably damaging |
Het |
| Ccdc70 |
T |
C |
8: 22,463,690 (GRCm39) |
L160P |
probably damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,812 (GRCm39) |
Y273* |
probably null |
Het |
| Cyb5rl |
T |
C |
4: 106,941,409 (GRCm39) |
V278A |
possibly damaging |
Het |
| Cyp2c29 |
T |
C |
19: 39,318,771 (GRCm39) |
F417S |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,120,592 (GRCm39) |
|
probably benign |
Het |
| Epha4 |
A |
T |
1: 77,483,492 (GRCm39) |
D172E |
probably damaging |
Het |
| Eya4 |
T |
A |
10: 22,989,873 (GRCm39) |
I495F |
possibly damaging |
Het |
| Gpr150 |
A |
T |
13: 76,204,542 (GRCm39) |
H134Q |
probably benign |
Het |
| Gpr153 |
T |
G |
4: 152,366,423 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
A |
G |
6: 38,795,250 (GRCm39) |
Y333H |
probably damaging |
Het |
| Jakmip1 |
T |
C |
5: 37,242,775 (GRCm39) |
M21T |
probably benign |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,341,328 (GRCm39) |
R951C |
probably damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,222 (GRCm39) |
F130Y |
probably damaging |
Het |
| Onecut2 |
T |
A |
18: 64,474,160 (GRCm39) |
L218Q |
probably damaging |
Het |
| Or12j4 |
G |
T |
7: 140,046,292 (GRCm39) |
M59I |
probably damaging |
Het |
| Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or8j3 |
A |
G |
2: 86,028,149 (GRCm39) |
*316Q |
probably null |
Het |
| Pah |
T |
A |
10: 87,414,221 (GRCm39) |
|
probably benign |
Het |
| Per2 |
C |
T |
1: 91,358,583 (GRCm39) |
E602K |
probably damaging |
Het |
| Plb1 |
C |
T |
5: 32,474,408 (GRCm39) |
T623M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,909,109 (GRCm39) |
|
probably null |
Het |
| Prl7b1 |
T |
A |
13: 27,786,804 (GRCm39) |
T142S |
probably damaging |
Het |
| Psd3 |
T |
C |
8: 68,173,544 (GRCm39) |
H1090R |
probably damaging |
Het |
| Siglecf |
G |
T |
7: 43,005,319 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,746 (GRCm39) |
V105A |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,011 (GRCm39) |
V255A |
probably benign |
Het |
| Tmprss5 |
T |
A |
9: 49,020,757 (GRCm39) |
*84K |
probably null |
Het |
| Trrap |
C |
T |
5: 144,767,779 (GRCm39) |
L2579F |
possibly damaging |
Het |
| Vdac1 |
A |
G |
11: 52,276,489 (GRCm39) |
T211A |
probably benign |
Het |
| Vmn1r16 |
A |
T |
6: 57,299,716 (GRCm39) |
V302D |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,420 (GRCm39) |
C572* |
probably null |
Het |
| Xpc |
A |
G |
6: 91,476,993 (GRCm39) |
S369P |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,111,444 (GRCm39) |
V52A |
probably benign |
Het |
| Zfp977 |
T |
C |
7: 42,230,090 (GRCm39) |
Y145C |
probably damaging |
Het |
|
| Other mutations in Msi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01390:Msi1
|
APN |
5 |
115,576,780 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01585:Msi1
|
APN |
5 |
115,568,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02232:Msi1
|
APN |
5 |
115,579,506 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0416:Msi1
|
UTSW |
5 |
115,568,708 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0828:Msi1
|
UTSW |
5 |
115,568,953 (GRCm39) |
splice site |
probably null |
|
|
R2353:Msi1
|
UTSW |
5 |
115,574,568 (GRCm39) |
intron |
probably benign |
|
|
R2517:Msi1
|
UTSW |
5 |
115,583,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Msi1
|
UTSW |
5 |
115,589,514 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4663:Msi1
|
UTSW |
5 |
115,588,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Msi1
|
UTSW |
5 |
115,573,654 (GRCm39) |
intron |
probably benign |
|
|
R4963:Msi1
|
UTSW |
5 |
115,588,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5461:Msi1
|
UTSW |
5 |
115,579,450 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6019:Msi1
|
UTSW |
5 |
115,589,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6210:Msi1
|
UTSW |
5 |
115,573,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Msi1
|
UTSW |
5 |
115,588,984 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6957:Msi1
|
UTSW |
5 |
115,583,483 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7105:Msi1
|
UTSW |
5 |
115,571,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8984:Msi1
|
UTSW |
5 |
115,573,598 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-10-07 |
Incidental Mutation