Incidental Mutation 'IGL01444:Snrnp70'
| ID |
84374 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snrnp70
|
| Ensembl Gene |
ENSMUSG00000063511 |
| Gene Name |
small nuclear ribonucleoprotein 70 (U1) |
| Synonyms |
Rnulp70, Snrp70, Srnp70, U1-70, 3200002N22Rik, 2700022N21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL01444
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45025877-45045166 bp(-) (GRCm39) |
| Type of Mutation |
splice site (154 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 45036660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074575]
[ENSMUST00000209858]
[ENSMUST00000211378]
[ENSMUST00000210514]
[ENSMUST00000211211]
[ENSMUST00000211121]
|
| AlphaFold |
Q62376 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074575
|
| SMART Domains |
Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:U1snRNP70_N
|
2 |
94 |
4e-31 |
PFAM |
|
RRM
|
104 |
177 |
1.62e-23 |
SMART |
|
low complexity region
|
186 |
203 |
N/A |
INTRINSIC |
|
coiled coil region
|
286 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
409 |
N/A |
INTRINSIC |
|
PDB:3PGW|L
|
410 |
448 |
4e-14 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209237
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209858
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211178
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211121
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a subunit of the U1 snRNP (small nuclear ribonucleic particle), one of at least five snRNPs to comprise the spliceosome, which functions in processing of pre-mRNAs. The U1 snRNP has been shown to be important in defining the 5' splice site. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad1 |
A |
T |
3: 37,146,183 (GRCm39) |
N517I |
probably damaging |
Het |
| Adam25 |
G |
A |
8: 41,207,958 (GRCm39) |
R408H |
probably benign |
Het |
| Adam34l |
A |
T |
8: 44,079,470 (GRCm39) |
D251E |
probably benign |
Het |
| Ang |
C |
A |
14: 51,339,124 (GRCm39) |
Y88* |
probably null |
Het |
| Ankrd42 |
T |
C |
7: 92,259,793 (GRCm39) |
T327A |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,938,682 (GRCm39) |
D2696G |
probably damaging |
Het |
| Chd3 |
G |
A |
11: 69,239,568 (GRCm39) |
T1717M |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,250,069 (GRCm39) |
M970L |
probably benign |
Het |
| Dhx32 |
T |
C |
7: 133,350,706 (GRCm39) |
I121M |
possibly damaging |
Het |
| Dnah11 |
G |
A |
12: 117,983,967 (GRCm39) |
S2506F |
possibly damaging |
Het |
| Dscam |
T |
A |
16: 96,474,909 (GRCm39) |
I1218F |
possibly damaging |
Het |
| Duox1 |
T |
C |
2: 122,170,571 (GRCm39) |
L1197P |
probably damaging |
Het |
| Eps8l2 |
T |
C |
7: 140,941,288 (GRCm39) |
|
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,355,054 (GRCm39) |
K49R |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,622,580 (GRCm39) |
T596S |
possibly damaging |
Het |
| F13a1 |
C |
T |
13: 37,102,551 (GRCm39) |
G391R |
probably null |
Het |
| Fat3 |
A |
T |
9: 15,910,144 (GRCm39) |
S1953T |
probably damaging |
Het |
| Gls2 |
C |
A |
10: 128,037,216 (GRCm39) |
N252K |
probably damaging |
Het |
| Haus2 |
G |
A |
2: 120,446,423 (GRCm39) |
R115K |
probably benign |
Het |
| Ift122 |
A |
G |
6: 115,861,340 (GRCm39) |
K262E |
probably benign |
Het |
| Islr2 |
C |
T |
9: 58,105,661 (GRCm39) |
C533Y |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,274,060 (GRCm39) |
F3997I |
possibly damaging |
Het |
| Nt5c1a |
C |
T |
4: 123,109,962 (GRCm39) |
R354W |
probably damaging |
Het |
| Or6c206 |
T |
A |
10: 129,097,204 (GRCm39) |
C125S |
probably damaging |
Het |
| Pcolce |
A |
T |
5: 137,605,738 (GRCm39) |
S200R |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,063,497 (GRCm39) |
V2213A |
possibly damaging |
Het |
| Prmt3 |
T |
A |
7: 49,430,120 (GRCm39) |
D74E |
probably benign |
Het |
| Ptk7 |
A |
G |
17: 46,876,313 (GRCm39) |
F1046S |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,311,122 (GRCm39) |
Y887H |
possibly damaging |
Het |
| Sanbr |
T |
G |
11: 23,570,225 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
G |
A |
7: 126,561,055 (GRCm39) |
E447K |
possibly damaging |
Het |
| Shld2 |
C |
A |
14: 33,959,514 (GRCm39) |
V823F |
probably damaging |
Het |
| Timm10 |
T |
A |
2: 84,660,208 (GRCm39) |
V49E |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,067,386 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
T |
A |
2: 30,888,801 (GRCm39) |
M1K |
probably null |
Het |
| Usp32 |
A |
C |
11: 84,949,990 (GRCm39) |
L223V |
probably damaging |
Het |
| Zeb1 |
G |
T |
18: 5,767,906 (GRCm39) |
A806S |
probably damaging |
Het |
| Zeb1 |
T |
C |
18: 5,767,138 (GRCm39) |
S550P |
probably benign |
Het |
|
| Other mutations in Snrnp70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Snrnp70
|
APN |
7 |
45,026,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01092:Snrnp70
|
APN |
7 |
45,026,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03110:Snrnp70
|
APN |
7 |
45,026,283 (GRCm39) |
intron |
probably benign |
|
|
R0691:Snrnp70
|
UTSW |
7 |
45,036,669 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1371:Snrnp70
|
UTSW |
7 |
45,030,129 (GRCm39) |
unclassified |
probably benign |
|
|
R1854:Snrnp70
|
UTSW |
7 |
45,026,644 (GRCm39) |
nonsense |
probably null |
|
|
R1880:Snrnp70
|
UTSW |
7 |
45,026,786 (GRCm39) |
splice site |
probably null |
|
|
R2050:Snrnp70
|
UTSW |
7 |
45,036,724 (GRCm39) |
nonsense |
probably null |
|
|
R4928:Snrnp70
|
UTSW |
7 |
45,026,705 (GRCm39) |
splice site |
probably null |
|
|
R5195:Snrnp70
|
UTSW |
7 |
45,044,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Snrnp70
|
UTSW |
7 |
45,026,476 (GRCm39) |
nonsense |
probably null |
|
|
R5326:Snrnp70
|
UTSW |
7 |
45,026,657 (GRCm39) |
intron |
probably benign |
|
|
R5522:Snrnp70
|
UTSW |
7 |
45,026,601 (GRCm39) |
intron |
probably benign |
|
|
R6182:Snrnp70
|
UTSW |
7 |
45,026,497 (GRCm39) |
nonsense |
probably null |
|
|
R6739:Snrnp70
|
UTSW |
7 |
45,036,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7607:Snrnp70
|
UTSW |
7 |
45,041,688 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7789:Snrnp70
|
UTSW |
7 |
45,026,045 (GRCm39) |
nonsense |
probably null |
|
|
R7840:Snrnp70
|
UTSW |
7 |
45,026,214 (GRCm39) |
missense |
unknown |
|
|
R9519:Snrnp70
|
UTSW |
7 |
45,036,875 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2013-11-11 |
Incidental Mutation