Incidental Mutation 'R0691:Snrnp70'
| ID |
63961 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp70
|
| Ensembl Gene |
ENSMUSG00000063511 |
| Gene Name |
small nuclear ribonucleoprotein 70 (U1) |
| Synonyms |
Rnulp70, Snrp70, Srnp70, U1-70, 3200002N22Rik, 2700022N21Rik |
| MMRRC Submission |
038876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R0691 (G1)
|
| Quality Score |
162 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45025877-45045166 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45036669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 131
(R131G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074575]
[ENSMUST00000209858]
[ENSMUST00000211378]
[ENSMUST00000211121]
[ENSMUST00000210514]
[ENSMUST00000211211]
|
| AlphaFold |
Q62376 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074575
AA Change: R131G
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074160
Gene: ENSMUSG00000063511
AA Change: R131G
| 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
AA Change: R131G
PolyPhen 2
Score 0.376 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209993
AA Change: R80G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210495
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211290
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211378
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211366
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210583
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210514
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211178
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211211
|
| Meta Mutation Damage Score |
0.2026 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
97% (58/60) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
C |
6: 142,584,979 (GRCm39) |
D865G |
possibly damaging |
Het |
| Acy1 |
A |
T |
9: 106,313,070 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
A |
T |
14: 56,010,104 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
G |
7: 79,489,047 (GRCm39) |
D347A |
probably damaging |
Het |
| Arhgap28 |
C |
T |
17: 68,203,159 (GRCm39) |
|
probably null |
Het |
| Ccdc32 |
A |
G |
2: 118,857,610 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
A |
G |
1: 179,972,400 (GRCm39) |
T1401A |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,319,939 (GRCm39) |
Y958H |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,923,066 (GRCm39) |
E137G |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,450,890 (GRCm39) |
D1399G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,145,908 (GRCm39) |
T978A |
possibly damaging |
Het |
| Col10a1 |
A |
G |
10: 34,271,692 (GRCm39) |
T555A |
possibly damaging |
Het |
| Crybg3 |
A |
C |
16: 59,385,574 (GRCm39) |
|
probably null |
Het |
| Cts7 |
A |
G |
13: 61,503,548 (GRCm39) |
F139L |
probably damaging |
Het |
| Dera |
T |
C |
6: 137,773,745 (GRCm39) |
|
probably benign |
Het |
| Dgka |
A |
G |
10: 128,559,129 (GRCm39) |
|
probably benign |
Het |
| Dhrs7 |
T |
A |
12: 72,699,125 (GRCm39) |
I286F |
probably damaging |
Het |
| Dtwd2 |
A |
G |
18: 49,861,424 (GRCm39) |
|
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,748,653 (GRCm39) |
S657P |
probably damaging |
Het |
| Fhip2b |
T |
C |
14: 70,825,727 (GRCm39) |
D351G |
probably damaging |
Het |
| Flnb |
T |
C |
14: 7,890,810 (GRCm38) |
V564A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,975,919 (GRCm39) |
F16L |
probably damaging |
Het |
| Gck |
T |
C |
11: 5,856,691 (GRCm39) |
R191G |
probably damaging |
Het |
| Gucy1b1 |
A |
T |
3: 81,952,941 (GRCm39) |
|
probably benign |
Het |
| Ifna2 |
A |
C |
4: 88,601,895 (GRCm39) |
L41R |
probably damaging |
Het |
| Krt33a |
T |
G |
11: 99,903,541 (GRCm39) |
E197A |
probably damaging |
Het |
| Lce1e |
G |
A |
3: 92,615,063 (GRCm39) |
R95C |
unknown |
Het |
| Lct |
G |
T |
1: 128,235,971 (GRCm39) |
S345R |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,281,724 (GRCm39) |
N3882K |
probably benign |
Het |
| Mcc |
G |
T |
18: 44,578,927 (GRCm39) |
T652K |
possibly damaging |
Het |
| Mier1 |
A |
G |
4: 102,996,699 (GRCm39) |
S109G |
probably benign |
Het |
| Nfat5 |
A |
G |
8: 108,082,237 (GRCm39) |
N469S |
probably damaging |
Het |
| Or1e23 |
C |
A |
11: 73,407,670 (GRCm39) |
M118I |
possibly damaging |
Het |
| Or6c214 |
G |
A |
10: 129,591,271 (GRCm39) |
T16I |
probably damaging |
Het |
| Piwil1 |
G |
T |
5: 128,820,371 (GRCm39) |
R256M |
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,685,746 (GRCm39) |
|
probably null |
Het |
| Sec22b |
A |
G |
3: 97,819,990 (GRCm39) |
E94G |
probably damaging |
Het |
| Spata31d1a |
A |
G |
13: 59,848,199 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Spint1 |
A |
G |
2: 119,076,948 (GRCm39) |
E344G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,302 (GRCm39) |
Q141* |
probably null |
Het |
| Tecta |
A |
T |
9: 42,295,637 (GRCm39) |
L286Q |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,104,301 (GRCm39) |
K198* |
probably null |
Het |
| Tk2 |
A |
G |
8: 104,957,824 (GRCm39) |
V174A |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,691,872 (GRCm39) |
K165E |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,151,217 (GRCm39) |
R1884Q |
probably damaging |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,844 (GRCm39) |
Y755H |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,855,592 (GRCm39) |
H296Q |
probably damaging |
Het |
| Zar1l |
A |
T |
5: 150,436,407 (GRCm39) |
V223D |
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 |
|
|
IGL03110:Snrnp70
|
APN |
7 |
45,026,283 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTCACCATTTCCAATGCTACTTC -3'
(R):5'- AGCCTGTTGTCGTCATCTGTCAATC -3'
Sequencing Primer
(F):5'- CCAATGCTACTTCTGACATTAAAGC -3'
(R):5'- TCACGCTTACTAAGTCACTGAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation