Incidental Mutation 'IGL00160:Snrnp70'
| ID |
1493 |
| 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 # |
IGL00160
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45025877-45045166 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 45026778 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074575]
[ENSMUST00000210514]
[ENSMUST00000211211]
|
| AlphaFold |
Q62376 |
| Predicted Effect |
probably null
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 |
probably benign
Transcript: ENSMUST00000209993
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211290
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211366
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
C |
T |
2: 68,563,219 (GRCm39) |
A387V |
probably benign |
Het |
| Adamts3 |
C |
T |
5: 90,009,184 (GRCm39) |
V160I |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,247,804 (GRCm39) |
V296A |
probably benign |
Het |
| Bdp1 |
A |
T |
13: 100,197,706 (GRCm39) |
M893K |
probably benign |
Het |
| Camk2d |
T |
A |
3: 126,631,921 (GRCm39) |
C407* |
probably null |
Het |
| Ces1h |
T |
C |
8: 94,084,091 (GRCm39) |
D373G |
probably benign |
Het |
| Ces2f |
A |
T |
8: 105,676,605 (GRCm39) |
N100Y |
probably damaging |
Het |
| Ces2f |
A |
T |
8: 105,676,604 (GRCm39) |
Q99H |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
| Dnai7 |
T |
A |
6: 145,121,016 (GRCm39) |
H601L |
probably benign |
Het |
| Dnmt3l |
A |
G |
10: 77,893,189 (GRCm39) |
D322G |
probably damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,890 (GRCm39) |
K133E |
possibly damaging |
Het |
| Fbxl20 |
C |
T |
11: 97,981,500 (GRCm39) |
G396D |
possibly damaging |
Het |
| Garre1 |
G |
A |
7: 33,938,431 (GRCm39) |
H1035Y |
possibly damaging |
Het |
| Gldc |
T |
C |
19: 30,092,640 (GRCm39) |
T760A |
probably damaging |
Het |
| Gm6483 |
T |
A |
8: 19,741,663 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr2 |
A |
T |
9: 76,135,437 (GRCm39) |
V460D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mrgpra2a |
A |
T |
7: 47,076,286 (GRCm39) |
M324K |
probably damaging |
Het |
| N4bp3 |
C |
T |
11: 51,536,143 (GRCm39) |
A230T |
probably benign |
Het |
| Nphs1 |
T |
G |
7: 30,181,976 (GRCm39) |
W1204G |
possibly damaging |
Het |
| Obscn |
C |
A |
11: 58,892,883 (GRCm39) |
A6788S |
probably benign |
Het |
| Ofcc1 |
T |
C |
13: 40,296,280 (GRCm39) |
D518G |
probably damaging |
Het |
| Optc |
T |
C |
1: 133,829,846 (GRCm39) |
Y188C |
probably damaging |
Het |
| Prss45 |
C |
A |
9: 110,670,073 (GRCm39) |
A285E |
probably damaging |
Het |
| Rcan2 |
C |
T |
17: 44,347,960 (GRCm39) |
T223I |
possibly damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,306,473 (GRCm39) |
T1064S |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,669,943 (GRCm39) |
K462E |
probably damaging |
Het |
| Sstr1 |
A |
G |
12: 58,259,536 (GRCm39) |
E53G |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,686,354 (GRCm39) |
|
probably null |
Het |
| Tex35 |
G |
A |
1: 156,927,326 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
T |
C |
2: 21,217,260 (GRCm39) |
F338S |
possibly damaging |
Het |
| Trpv1 |
C |
T |
11: 73,151,188 (GRCm39) |
A424V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,693,554 (GRCm39) |
H2535L |
possibly damaging |
Het |
| Usp46 |
T |
C |
5: 74,163,347 (GRCm39) |
E333G |
probably null |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,119 (GRCm39) |
Y245C |
probably benign |
Het |
| Zfp488 |
T |
C |
14: 33,693,026 (GRCm39) |
M46V |
probably benign |
Het |
| Zfp566 |
G |
T |
7: 29,777,936 (GRCm39) |
Q82K |
probably benign |
Het |
| Znhit6 |
T |
C |
3: 145,283,915 (GRCm39) |
S62P |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,039 (GRCm39) |
H108R |
probably damaging |
Het |
|
| Other mutations in Snrnp70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01092:Snrnp70
|
APN |
7 |
45,026,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01444:Snrnp70
|
APN |
7 |
45,036,660 (GRCm39) |
splice site |
probably null |
|
|
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 |
2011-07-12 |
Incidental Mutation