Incidental Mutation 'R0486:Snrnp40'
ID |
42275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
MMRRC Submission |
038685-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0486 (G1)
|
Quality Score |
225 |
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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
98% (65/66) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aco1 |
T |
C |
4: 40,177,783 (GRCm39) |
L268P |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,380,048 (GRCm39) |
H83Q |
probably damaging |
Het |
Anln |
T |
C |
9: 22,264,122 (GRCm39) |
D886G |
probably benign |
Het |
Arhgef11 |
T |
A |
3: 87,596,159 (GRCm39) |
|
probably null |
Het |
Ark2c |
T |
A |
18: 77,571,950 (GRCm39) |
Q91L |
probably damaging |
Het |
Arl8b |
A |
T |
6: 108,792,287 (GRCm39) |
D116V |
possibly damaging |
Het |
BC051665 |
C |
T |
13: 60,931,859 (GRCm39) |
G180D |
probably damaging |
Het |
Bloc1s2 |
A |
G |
19: 44,131,589 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
T |
G |
1: 182,575,424 (GRCm39) |
S422R |
possibly damaging |
Het |
Cd101 |
T |
C |
3: 100,915,408 (GRCm39) |
K720E |
possibly damaging |
Het |
Cdh23 |
C |
A |
10: 60,222,725 (GRCm39) |
A1236S |
probably damaging |
Het |
Chd1 |
G |
A |
17: 15,954,604 (GRCm39) |
A491T |
probably damaging |
Het |
Chdh |
T |
C |
14: 29,754,815 (GRCm39) |
V275A |
possibly damaging |
Het |
Cmtm2b |
A |
T |
8: 105,057,047 (GRCm39) |
I136F |
probably damaging |
Het |
Cps1 |
T |
C |
1: 67,204,551 (GRCm39) |
V457A |
probably damaging |
Het |
Cwf19l1 |
A |
G |
19: 44,103,129 (GRCm39) |
V362A |
probably benign |
Het |
Cyp4f17 |
T |
C |
17: 32,743,797 (GRCm39) |
|
probably benign |
Het |
Cyp4f18 |
C |
A |
8: 72,749,861 (GRCm39) |
V263L |
probably benign |
Het |
Dclre1a |
A |
G |
19: 56,529,922 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,866,640 (GRCm39) |
I446T |
probably benign |
Het |
F11r |
T |
C |
1: 171,288,156 (GRCm39) |
W61R |
probably damaging |
Het |
Fam120b |
C |
T |
17: 15,646,550 (GRCm39) |
|
probably benign |
Het |
Fastkd2 |
T |
C |
1: 63,791,499 (GRCm39) |
V669A |
possibly damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,314 (GRCm39) |
|
probably benign |
Het |
Foxo3 |
A |
G |
10: 42,073,477 (GRCm39) |
Y347H |
probably damaging |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gbp7 |
C |
A |
3: 142,252,078 (GRCm39) |
|
probably benign |
Het |
Glipr1 |
T |
C |
10: 111,832,754 (GRCm39) |
|
probably benign |
Het |
Gm11555 |
A |
G |
11: 99,540,986 (GRCm39) |
S8P |
unknown |
Het |
H6pd |
G |
A |
4: 150,067,393 (GRCm39) |
|
probably benign |
Het |
Haus8 |
C |
T |
8: 71,709,182 (GRCm39) |
M75I |
probably benign |
Het |
Haus8 |
C |
A |
8: 71,709,181 (GRCm39) |
G76W |
probably damaging |
Het |
Kcnj13 |
C |
A |
1: 87,314,752 (GRCm39) |
V157L |
probably damaging |
Het |
Kcnt2 |
T |
A |
1: 140,437,218 (GRCm39) |
C550* |
probably null |
Het |
Kdm5d |
A |
G |
Y: 927,107 (GRCm39) |
N615S |
probably damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
Ngef |
T |
A |
1: 87,406,848 (GRCm39) |
N640I |
probably damaging |
Het |
Nhlrc3 |
T |
C |
3: 53,359,858 (GRCm39) |
Y335C |
probably damaging |
Het |
Nipbl |
A |
T |
15: 8,368,354 (GRCm39) |
|
probably benign |
Het |
Nop2 |
A |
G |
6: 125,117,636 (GRCm39) |
K434R |
probably null |
Het |
Nr4a3 |
T |
C |
4: 48,056,525 (GRCm39) |
|
probably benign |
Het |
Or8b35 |
A |
G |
9: 37,903,998 (GRCm39) |
N70S |
possibly damaging |
Het |
Piezo2 |
A |
C |
18: 63,162,132 (GRCm39) |
I2233R |
probably damaging |
Het |
Prag1 |
A |
T |
8: 36,613,787 (GRCm39) |
E1113V |
probably damaging |
Het |
Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
Psmd1 |
T |
A |
1: 86,022,012 (GRCm39) |
N611K |
probably damaging |
Het |
Ptpn7 |
C |
T |
1: 135,065,096 (GRCm39) |
T168I |
probably damaging |
Het |
Pus1 |
A |
T |
5: 110,927,596 (GRCm39) |
V53E |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,093,028 (GRCm39) |
M415T |
probably damaging |
Het |
Rnf17 |
C |
T |
14: 56,751,632 (GRCm39) |
T1490M |
probably benign |
Het |
Rnf20 |
C |
A |
4: 49,645,907 (GRCm39) |
L332I |
possibly damaging |
Het |
Spam1 |
A |
T |
6: 24,796,394 (GRCm39) |
Q115L |
probably damaging |
Het |
Syce1l |
A |
T |
8: 114,381,395 (GRCm39) |
|
probably null |
Het |
Synj1 |
T |
C |
16: 90,735,151 (GRCm39) |
|
probably benign |
Het |
Tas2r126 |
A |
T |
6: 42,412,225 (GRCm39) |
I253F |
probably benign |
Het |
Tecpr2 |
G |
A |
12: 110,862,803 (GRCm39) |
V72I |
probably benign |
Het |
Tfap2a |
G |
T |
13: 40,882,170 (GRCm39) |
P45Q |
probably damaging |
Het |
Trip12 |
C |
A |
1: 84,738,805 (GRCm39) |
G714* |
probably null |
Het |
Wdr31 |
A |
G |
4: 62,372,130 (GRCm39) |
S330P |
probably damaging |
Het |
Wdr64 |
T |
C |
1: 175,622,769 (GRCm39) |
|
probably benign |
Het |
Yes1 |
T |
A |
5: 32,812,926 (GRCm39) |
Y343* |
probably null |
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 |
|
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 |