Incidental Mutation 'IGL03110:Snrnp70'
| ID |
419172 |
| 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 # |
IGL03110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45025877-45045166 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 45026283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074575]
[ENSMUST00000210514]
[ENSMUST00000211211]
|
| AlphaFold |
Q62376 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000074575
AA Change: R362L
|
| SMART Domains |
Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: R362L
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,333,295 (GRCm39) |
E473G |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,310,464 (GRCm39) |
M458V |
probably benign |
Het |
| Acrbp |
G |
T |
6: 125,039,436 (GRCm39) |
C485F |
probably damaging |
Het |
| Actn2 |
T |
C |
13: 12,324,493 (GRCm39) |
I117V |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,554,970 (GRCm39) |
E383G |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,213,698 (GRCm39) |
H39L |
probably benign |
Het |
| Cdh11 |
G |
T |
8: 103,400,502 (GRCm39) |
N155K |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,549,959 (GRCm39) |
N47K |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,331,135 (GRCm39) |
D104E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,988,674 (GRCm39) |
S3386T |
probably benign |
Het |
| Galnt18 |
T |
A |
7: 111,147,920 (GRCm39) |
E352V |
probably benign |
Het |
| Gm5407 |
T |
A |
16: 49,117,757 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
T |
C |
14: 62,671,283 (GRCm39) |
|
probably benign |
Het |
| Guf1 |
C |
A |
5: 69,715,820 (GRCm39) |
L87I |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,585,034 (GRCm39) |
S57P |
probably damaging |
Het |
| Igkv17-121 |
T |
A |
6: 68,013,851 (GRCm39) |
V17D |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,785,157 (GRCm39) |
V324A |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,105,981 (GRCm39) |
L2072Q |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,733,415 (GRCm39) |
E433G |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,298,289 (GRCm39) |
L715* |
probably null |
Het |
| Nbeal2 |
T |
G |
9: 110,460,501 (GRCm39) |
K1778Q |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,493 (GRCm39) |
I124F |
probably damaging |
Het |
| Or51a39 |
C |
A |
7: 102,363,090 (GRCm39) |
G177C |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,942 (GRCm39) |
V274E |
probably damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,722,064 (GRCm39) |
|
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,495,984 (GRCm39) |
Y6C |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,586,915 (GRCm39) |
Q1602R |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,173 (GRCm39) |
T332A |
probably damaging |
Het |
| S100a7l2 |
C |
T |
3: 90,995,626 (GRCm39) |
R92H |
unknown |
Het |
| Spidr |
T |
C |
16: 15,707,618 (GRCm39) |
E893G |
probably damaging |
Het |
| Stxbp2 |
T |
C |
8: 3,683,342 (GRCm39) |
I74T |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,973,410 (GRCm39) |
Q234* |
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,716 (GRCm39) |
D384G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,418,278 (GRCm39) |
N2940S |
unknown |
Het |
| Zmat3 |
T |
A |
3: 32,399,701 (GRCm39) |
N100I |
probably damaging |
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 |
|
IGL01444:Snrnp70
|
APN |
7 |
45,036,660 (GRCm39) |
splice site |
probably null |
|
|
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 |
2016-08-02 |
Incidental Mutation