Incidental Mutation 'R0442:Snrnp40'
| ID |
39210 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Snrnp40
|
| Ensembl Gene |
ENSMUSG00000074088 |
| Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
| Synonyms |
Wdr57, 0610009C03Rik |
| MMRRC Submission |
038643-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0442 (G1)
|
| Quality Score |
134 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
130253925-130283819 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to G
at 130271836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105994]
|
| AlphaFold |
Q6PE01 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105994
|
| SMART Domains |
Protein: ENSMUSP00000101616
Gene: ENSMUSG00000074088
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180577
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.4%
- 20x: 81.2%
|
| Validation Efficiency |
99% (70/71) |
| 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 |
|---|
| Adgrb3 |
T |
A |
1: 25,435,551 (GRCm39) |
N816Y |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,553,563 (GRCm39) |
|
probably benign |
Het |
| Cd200 |
T |
A |
16: 45,217,518 (GRCm39) |
S58C |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,233,545 (GRCm39) |
E508K |
probably damaging |
Het |
| Dnah2 |
C |
A |
11: 69,339,368 (GRCm39) |
L3046F |
probably damaging |
Het |
| Duox2 |
T |
C |
2: 122,119,813 (GRCm39) |
N872D |
probably benign |
Het |
| Fam90a1a |
C |
T |
8: 22,453,074 (GRCm39) |
T143I |
probably benign |
Het |
| Fdft1 |
T |
C |
14: 63,400,798 (GRCm39) |
T112A |
probably benign |
Het |
| Gimap9 |
G |
T |
6: 48,655,000 (GRCm39) |
G196* |
probably null |
Het |
| Grhl1 |
G |
A |
12: 24,662,169 (GRCm39) |
R536Q |
probably damaging |
Het |
| Gtpbp3 |
T |
A |
8: 71,944,135 (GRCm39) |
V293E |
probably damaging |
Het |
| Hcn3 |
A |
T |
3: 89,058,847 (GRCm39) |
F251Y |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,462,045 (GRCm39) |
C971S |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,874,002 (GRCm39) |
D2164V |
probably damaging |
Het |
| Hif1an |
T |
G |
19: 44,554,451 (GRCm39) |
L188R |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Iqgap3 |
C |
T |
3: 88,023,266 (GRCm39) |
P519L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,292,897 (GRCm39) |
|
probably null |
Het |
| Klra1 |
T |
C |
6: 130,349,835 (GRCm39) |
Y201C |
probably damaging |
Het |
| Minpp1 |
T |
C |
19: 32,471,348 (GRCm39) |
F299L |
possibly damaging |
Het |
| Myb |
A |
G |
10: 21,002,095 (GRCm39) |
S749P |
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,069,305 (GRCm39) |
|
probably null |
Het |
| Naip1 |
T |
A |
13: 100,581,024 (GRCm39) |
R74S |
probably benign |
Het |
| Nt5m |
A |
G |
11: 59,765,445 (GRCm39) |
T158A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,893,000 (GRCm39) |
|
probably benign |
Het |
| Or5af1 |
T |
A |
11: 58,722,257 (GRCm39) |
Y92* |
probably null |
Het |
| Or5b119 |
T |
G |
19: 13,457,412 (GRCm39) |
D50A |
probably damaging |
Het |
| Or6c210 |
T |
C |
10: 129,495,693 (GRCm39) |
I6T |
probably benign |
Het |
| Otogl |
T |
A |
10: 107,712,716 (GRCm39) |
T543S |
probably damaging |
Het |
| Pds5b |
T |
C |
5: 150,640,009 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,288,000 (GRCm39) |
M49T |
possibly damaging |
Het |
| Rabl6 |
A |
T |
2: 25,477,534 (GRCm39) |
S305R |
probably damaging |
Het |
| Rad54b |
G |
A |
4: 11,609,480 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
C |
A |
4: 11,610,362 (GRCm39) |
R660S |
probably benign |
Het |
| Rexo5 |
T |
C |
7: 119,442,508 (GRCm39) |
L542P |
probably damaging |
Het |
| Rp1 |
C |
T |
1: 4,416,970 (GRCm39) |
D1381N |
probably benign |
Het |
| Scnn1a |
T |
G |
6: 125,316,100 (GRCm39) |
M346R |
probably damaging |
Het |
| Sirpb1c |
A |
G |
3: 15,856,710 (GRCm39) |
I380T |
probably benign |
Het |
| Sstr3 |
A |
T |
15: 78,424,597 (GRCm39) |
L50Q |
probably damaging |
Het |
| St3gal6 |
C |
A |
16: 58,293,816 (GRCm39) |
A238S |
probably damaging |
Het |
| St3gal6 |
G |
T |
16: 58,293,818 (GRCm39) |
A237E |
probably damaging |
Het |
| Sun5 |
T |
C |
2: 153,712,872 (GRCm39) |
D16G |
possibly damaging |
Het |
| Svil |
A |
T |
18: 5,046,870 (GRCm39) |
T39S |
probably damaging |
Het |
| Taar1 |
A |
G |
10: 23,796,380 (GRCm39) |
Y26C |
possibly damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Use1 |
T |
C |
8: 71,819,702 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,657,277 (GRCm39) |
Y7C |
probably damaging |
Het |
| Zbtb37 |
A |
G |
1: 160,859,918 (GRCm39) |
F129S |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,304,357 (GRCm39) |
H1209R |
possibly damaging |
Het |
| Zfp28 |
T |
C |
7: 6,397,998 (GRCm39) |
L811P |
probably damaging |
Het |
| Zfp616 |
T |
C |
11: 73,975,321 (GRCm39) |
I530T |
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 |
|
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 |
|
R8412:Snrnp40
|
UTSW |
4 |
130,278,316 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9319:Snrnp40
|
UTSW |
4 |
130,256,545 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGGTCCTCTTTCTTGAACAACCAG -3'
(R):5'- GCATTAAGTGCCAACCTCCTGCAATC -3'
Sequencing Primer
(F):5'- GAAACCAGAAGAGGGAGTCAG -3'
(R):5'- TCCTGCAATCTCAACATTTAAAAAAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation