Incidental Mutation 'R0733:Snrnp40'
ID |
67093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
MMRRC Submission |
038914-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0733 (G1)
|
Quality Score |
157 |
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: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
98% (60/61) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abl1 |
A |
G |
2: 31,668,957 (GRCm39) |
Y88C |
probably damaging |
Het |
Acbd3 |
A |
G |
1: 180,579,783 (GRCm39) |
I476V |
possibly damaging |
Het |
Apba2 |
T |
C |
7: 64,399,912 (GRCm39) |
I689T |
probably damaging |
Het |
AU018091 |
A |
G |
7: 3,209,001 (GRCm39) |
Y362H |
probably damaging |
Het |
Castor2 |
T |
C |
5: 134,165,054 (GRCm39) |
F208L |
possibly damaging |
Het |
Cdh26 |
T |
C |
2: 178,128,724 (GRCm39) |
S759P |
probably damaging |
Het |
Clcc1 |
A |
G |
3: 108,582,056 (GRCm39) |
Q387R |
probably benign |
Het |
Cobl |
C |
T |
11: 12,315,167 (GRCm39) |
G259R |
probably benign |
Het |
Col4a1 |
C |
T |
8: 11,268,934 (GRCm39) |
R968Q |
possibly damaging |
Het |
Ddr2 |
A |
G |
1: 169,832,381 (GRCm39) |
|
probably benign |
Het |
Dera |
C |
A |
6: 137,773,846 (GRCm39) |
N201K |
probably damaging |
Het |
Dsg1a |
A |
C |
18: 20,471,725 (GRCm39) |
E659A |
probably damaging |
Het |
Dus2 |
G |
T |
8: 106,772,702 (GRCm39) |
|
probably null |
Het |
Ears2 |
T |
A |
7: 121,647,352 (GRCm39) |
I311F |
possibly damaging |
Het |
Eml4 |
T |
A |
17: 83,761,893 (GRCm39) |
M417K |
possibly damaging |
Het |
Exosc4 |
A |
T |
15: 76,213,616 (GRCm39) |
M147L |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,330,548 (GRCm39) |
Y278F |
possibly damaging |
Het |
Fastk |
A |
C |
5: 24,648,921 (GRCm39) |
H155Q |
probably null |
Het |
Fem1b |
G |
T |
9: 62,704,125 (GRCm39) |
N378K |
possibly damaging |
Het |
Fut11 |
C |
A |
14: 20,745,427 (GRCm39) |
Y119* |
probably null |
Het |
Gm6797 |
T |
C |
X: 8,511,388 (GRCm39) |
|
noncoding transcript |
Het |
Gstt4 |
T |
C |
10: 75,653,148 (GRCm39) |
D138G |
probably benign |
Het |
Hprt1 |
G |
A |
X: 52,091,027 (GRCm39) |
C66Y |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,595,799 (GRCm39) |
|
probably benign |
Het |
Ints6l |
T |
A |
X: 55,547,108 (GRCm39) |
S621T |
probably benign |
Het |
Ints6l |
C |
G |
X: 55,550,172 (GRCm39) |
A699G |
probably benign |
Het |
Kctd3 |
A |
G |
1: 188,729,247 (GRCm39) |
|
probably benign |
Het |
Kntc1 |
G |
T |
5: 123,928,979 (GRCm39) |
V1252L |
probably null |
Het |
Lama5 |
A |
T |
2: 179,822,511 (GRCm39) |
M2854K |
possibly damaging |
Het |
Lcn5 |
G |
T |
2: 25,551,113 (GRCm39) |
L187F |
probably damaging |
Het |
Lrp3 |
A |
T |
7: 34,901,545 (GRCm39) |
L758M |
possibly damaging |
Het |
Ltn1 |
T |
A |
16: 87,209,395 (GRCm39) |
I740F |
probably benign |
Het |
Mcm5 |
A |
G |
8: 75,853,876 (GRCm39) |
K710R |
probably benign |
Het |
Mllt10 |
A |
G |
2: 18,208,577 (GRCm39) |
|
probably benign |
Het |
Nbr1 |
T |
A |
11: 101,467,197 (GRCm39) |
M864K |
probably benign |
Het |
Nkiras2 |
T |
C |
11: 100,515,758 (GRCm39) |
|
probably null |
Het |
Nlrp4d |
T |
A |
7: 10,116,449 (GRCm39) |
E144V |
probably benign |
Het |
Nppc |
T |
C |
1: 86,597,356 (GRCm39) |
|
probably benign |
Het |
Ormdl2 |
T |
A |
10: 128,655,868 (GRCm39) |
Q94L |
probably damaging |
Het |
Paox |
G |
C |
7: 139,707,440 (GRCm39) |
D88H |
probably damaging |
Het |
Prl7a2 |
T |
C |
13: 27,846,671 (GRCm39) |
E114G |
probably damaging |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Prss54 |
T |
C |
8: 96,286,368 (GRCm39) |
D235G |
possibly damaging |
Het |
Rwdd3 |
T |
C |
3: 120,965,256 (GRCm39) |
M24V |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,201 (GRCm39) |
N30I |
probably benign |
Het |
Sh3rf1 |
G |
A |
8: 61,825,594 (GRCm39) |
A530T |
probably benign |
Het |
Slc28a1 |
T |
C |
7: 80,774,648 (GRCm39) |
I165T |
probably benign |
Het |
Slco6d1 |
T |
A |
1: 98,355,994 (GRCm39) |
L143* |
probably null |
Het |
Snx27 |
A |
G |
3: 94,469,320 (GRCm39) |
L7P |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
St8sia2 |
C |
T |
7: 73,610,588 (GRCm39) |
G232S |
probably benign |
Het |
Sun1 |
A |
G |
5: 139,216,918 (GRCm39) |
H255R |
possibly damaging |
Het |
Tent2 |
T |
A |
13: 93,291,547 (GRCm39) |
Q365L |
probably benign |
Het |
Ube2k |
A |
G |
5: 65,738,795 (GRCm39) |
I95V |
probably damaging |
Het |
Ube2m |
C |
A |
7: 12,769,679 (GRCm39) |
E126D |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,169,147 (GRCm39) |
M661K |
probably benign |
Het |
Wdr47 |
A |
T |
3: 108,525,939 (GRCm39) |
D154V |
probably damaging |
Het |
Zfp113 |
A |
G |
5: 138,143,845 (GRCm39) |
V135A |
probably benign |
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 |
|
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 |
2013-09-03 |