Incidental Mutation 'R8412:Snrnp40'
| ID |
652728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp40
|
| Ensembl Gene |
ENSMUSG00000074088 |
| Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
| Synonyms |
Wdr57, 0610009C03Rik |
| MMRRC Submission |
067816-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
130253925-130283819 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130278316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 274
(C274S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105994]
|
| AlphaFold |
Q6PE01 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105994
AA Change: C274S
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
AA Change: C274S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
|
WD40
|
56 |
95 |
1.64e-9 |
SMART |
|
WD40
|
99 |
138 |
1.83e-7 |
SMART |
|
WD40
|
141 |
181 |
8.68e-9 |
SMART |
|
WD40
|
184 |
222 |
3.81e-5 |
SMART |
|
WD40
|
225 |
264 |
3.24e-8 |
SMART |
|
WD40
|
271 |
314 |
5.1e-6 |
SMART |
|
WD40
|
317 |
356 |
2.84e-4 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
T |
A |
1: 183,765,356 (GRCm39) |
R234S |
probably damaging |
Het |
| Ace |
T |
A |
11: 105,870,092 (GRCm39) |
F806Y |
probably benign |
Het |
| Ak8 |
A |
G |
2: 28,629,643 (GRCm39) |
T286A |
probably benign |
Het |
| Apba2 |
T |
A |
7: 64,395,546 (GRCm39) |
F674Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,058,069 (GRCm39) |
I2184V |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,356,854 (GRCm39) |
P884L |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,294,554 (GRCm39) |
L90P |
probably damaging |
Het |
| Bhmt2 |
T |
A |
13: 93,798,820 (GRCm39) |
I334F |
possibly damaging |
Het |
| Bmi1 |
C |
T |
2: 18,689,114 (GRCm39) |
T266I |
probably damaging |
Het |
| Cdh26 |
A |
G |
2: 178,104,517 (GRCm39) |
I301V |
probably damaging |
Het |
| Cenpx |
A |
T |
11: 120,602,558 (GRCm39) |
H68Q |
unknown |
Het |
| Cnot10 |
T |
C |
9: 114,439,738 (GRCm39) |
R524G |
probably benign |
Het |
| Cnpy1 |
A |
T |
5: 28,414,206 (GRCm39) |
Y22* |
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,499,794 (GRCm39) |
R2114H |
|
Het |
| Defa29 |
T |
A |
8: 21,816,062 (GRCm39) |
T102S |
probably benign |
Het |
| Fras1 |
T |
C |
5: 96,744,711 (GRCm39) |
I582T |
probably benign |
Het |
| Gm14295 |
G |
A |
2: 176,501,422 (GRCm39) |
C304Y |
probably damaging |
Het |
| Gucy2d |
T |
C |
7: 98,093,046 (GRCm39) |
V141A |
possibly damaging |
Het |
| Ifi47 |
A |
C |
11: 48,986,425 (GRCm39) |
Q64P |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,028 (GRCm39) |
S225R |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,340,581 (GRCm39) |
H289R |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,802,128 (GRCm39) |
D512G |
probably damaging |
Het |
| Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
| Med23 |
C |
A |
10: 24,784,632 (GRCm39) |
F1200L |
probably benign |
Het |
| Ndst4 |
A |
T |
3: 125,364,439 (GRCm39) |
D372V |
possibly damaging |
Het |
| Nob1 |
T |
A |
8: 108,148,230 (GRCm39) |
K71* |
probably null |
Het |
| Ntrk3 |
A |
G |
7: 78,005,897 (GRCm39) |
I488T |
probably benign |
Het |
| Pds5b |
G |
T |
5: 150,643,424 (GRCm39) |
C82F |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,360,022 (GRCm39) |
V969E |
possibly damaging |
Het |
| Ppme1 |
A |
T |
7: 99,984,298 (GRCm39) |
N307K |
probably benign |
Het |
| Pus7l |
C |
T |
15: 94,425,856 (GRCm39) |
C515Y |
probably benign |
Het |
| Rpp21 |
T |
A |
17: 36,568,591 (GRCm39) |
H22L |
possibly damaging |
Het |
| Scamp3 |
T |
C |
3: 89,088,525 (GRCm39) |
F244L |
probably damaging |
Het |
| Scgb1b7 |
A |
T |
7: 31,412,379 (GRCm39) |
K52* |
probably null |
Het |
| Slc12a3 |
T |
C |
8: 95,060,695 (GRCm39) |
I261T |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 82,992,533 (GRCm39) |
R396H |
probably damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,009,922 (GRCm39) |
I58V |
probably benign |
Het |
| Slc9a9 |
A |
C |
9: 95,111,092 (GRCm39) |
T637P |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,088,457 (GRCm39) |
V905A |
probably damaging |
Het |
| Taok3 |
A |
G |
5: 117,404,102 (GRCm39) |
D759G |
possibly damaging |
Het |
| Tas1r1 |
T |
C |
4: 152,117,033 (GRCm39) |
I200M |
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,139 (GRCm39) |
V360A |
possibly damaging |
Het |
| Trim12a |
A |
T |
7: 103,953,544 (GRCm39) |
M189K |
possibly damaging |
Het |
| Tspan32 |
T |
C |
7: 142,559,695 (GRCm39) |
F41L |
probably benign |
Het |
| Tube1 |
T |
A |
10: 39,021,657 (GRCm39) |
S301T |
possibly damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,578 (GRCm39) |
S596P |
probably benign |
Het |
| Virma |
T |
A |
4: 11,521,261 (GRCm39) |
|
probably null |
Het |
| Vmn2r58 |
T |
C |
7: 41,513,722 (GRCm39) |
D307G |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,888,964 (GRCm39) |
K327R |
probably damaging |
Het |
| Zfp54 |
C |
T |
17: 21,654,910 (GRCm39) |
T468M |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,551 (GRCm39) |
I668N |
possibly damaging |
Het |
|
| Other mutations in Snrnp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02200:Snrnp40
|
APN |
4 |
130,254,014 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02306:Snrnp40
|
APN |
4 |
130,258,893 (GRCm39) |
missense |
probably benign |
0.21 |
|
skywarp
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0027:Snrnp40
|
UTSW |
4 |
130,262,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0027:Snrnp40
|
UTSW |
4 |
130,262,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0134:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0211:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0349:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0371:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0372:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0376:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0377:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0400:Snrnp40
|
UTSW |
4 |
130,256,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0442:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0443:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0486:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0488:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0568:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0624:Snrnp40
|
UTSW |
4 |
130,256,451 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0632:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0650:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R0733:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1161:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1182:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1234:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1236:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1305:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1308:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1333:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1413:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1569:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1616:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1656:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1675:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1759:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1856:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1901:Snrnp40
|
UTSW |
4 |
130,279,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1912:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1930:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R1931:Snrnp40
|
UTSW |
4 |
130,271,836 (GRCm39) |
splice site |
probably null |
|
|
R2435:Snrnp40
|
UTSW |
4 |
130,278,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Snrnp40
|
UTSW |
4 |
130,262,068 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4782:Snrnp40
|
UTSW |
4 |
130,256,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Snrnp40
|
UTSW |
4 |
130,256,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Snrnp40
|
UTSW |
4 |
130,282,375 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5104:Snrnp40
|
UTSW |
4 |
130,258,958 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5369:Snrnp40
|
UTSW |
4 |
130,256,439 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5699:Snrnp40
|
UTSW |
4 |
130,258,958 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7529:Snrnp40
|
UTSW |
4 |
130,278,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8264:Snrnp40
|
UTSW |
4 |
130,271,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9319:Snrnp40
|
UTSW |
4 |
130,256,545 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAATGAGAAGGACGGTCGTG -3'
(R):5'- GGGCAGCTTTGGTGAAGAAC -3'
Sequencing Primer
(F):5'- ATTGTGCGTACTGGGAGAAG -3'
(R):5'- CAGCTTTGGTGAAGAACTAAGTC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation