Incidental Mutation 'R5699:Snrnp40'
ID |
446557 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
MMRRC Submission |
043327-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5699 (G1)
|
Quality Score |
159 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
130253925-130283819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 130258958 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 122
(G122V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105994]
|
AlphaFold |
Q6PE01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105994
AA Change: G122V
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101616 Gene: ENSMUSG00000074088 AA Change: G122V
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181161
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
A |
G |
9: 8,225,320 (GRCm39) |
|
noncoding transcript |
Het |
4930486L24Rik |
A |
G |
13: 61,001,410 (GRCm39) |
F106L |
possibly damaging |
Het |
Adam11 |
A |
T |
11: 102,664,466 (GRCm39) |
M385L |
probably benign |
Het |
Adgre1 |
C |
T |
17: 57,788,007 (GRCm39) |
P925S |
probably benign |
Het |
Adh7 |
G |
A |
3: 137,932,087 (GRCm39) |
A234T |
probably benign |
Het |
Ano2 |
A |
G |
6: 125,849,703 (GRCm39) |
E475G |
probably damaging |
Het |
C2cd4c |
A |
G |
10: 79,448,385 (GRCm39) |
V254A |
probably benign |
Het |
Car13 |
A |
G |
3: 14,715,749 (GRCm39) |
Y89C |
probably damaging |
Het |
Cd38 |
A |
G |
5: 44,057,728 (GRCm39) |
K100R |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,361,175 (GRCm39) |
I721T |
probably damaging |
Het |
Cdh2 |
G |
A |
18: 16,779,579 (GRCm39) |
Q161* |
probably null |
Het |
Clk1 |
T |
C |
1: 58,459,354 (GRCm39) |
K135R |
probably damaging |
Het |
Col5a1 |
G |
A |
2: 27,887,611 (GRCm39) |
G961R |
unknown |
Het |
Cpt1b |
T |
A |
15: 89,308,476 (GRCm39) |
I151F |
probably benign |
Het |
Cyp51 |
A |
G |
5: 4,151,213 (GRCm39) |
F139L |
probably damaging |
Het |
Disp1 |
TTGA |
T |
1: 182,870,119 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
C |
17: 31,029,298 (GRCm39) |
I4089T |
probably benign |
Het |
Dnali1 |
C |
T |
4: 124,952,843 (GRCm39) |
V227M |
possibly damaging |
Het |
Eml4 |
T |
G |
17: 83,717,514 (GRCm39) |
S29A |
probably benign |
Het |
Eps8l3 |
C |
A |
3: 107,786,895 (GRCm39) |
P24T |
probably benign |
Het |
Fancc |
A |
T |
13: 63,478,446 (GRCm39) |
|
probably null |
Het |
Firrm |
A |
T |
1: 163,785,120 (GRCm39) |
V753D |
probably benign |
Het |
Grid2 |
G |
A |
6: 63,885,975 (GRCm39) |
A124T |
probably damaging |
Het |
Ikbke |
C |
T |
1: 131,204,204 (GRCm39) |
|
probably null |
Het |
Kyat1 |
G |
A |
2: 30,076,662 (GRCm39) |
A284V |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lmbrd2 |
G |
T |
15: 9,175,269 (GRCm39) |
L393F |
probably benign |
Het |
Lrrc26 |
T |
A |
2: 25,180,536 (GRCm39) |
L179Q |
probably damaging |
Het |
Mlx |
A |
G |
11: 100,979,520 (GRCm39) |
D113G |
possibly damaging |
Het |
Myod1 |
A |
G |
7: 46,026,407 (GRCm39) |
K104R |
probably damaging |
Het |
Nwd1 |
G |
A |
8: 73,429,602 (GRCm39) |
|
probably null |
Het |
Or56b2j |
T |
G |
7: 104,353,200 (GRCm39) |
V142G |
probably damaging |
Het |
Or5b118 |
A |
G |
19: 13,448,336 (GRCm39) |
M1V |
probably null |
Het |
Or6c3 |
A |
C |
10: 129,308,746 (GRCm39) |
N62H |
probably damaging |
Het |
Pacsin3 |
A |
T |
2: 91,093,126 (GRCm39) |
Y206F |
probably damaging |
Het |
Pcdhgb5 |
T |
A |
18: 37,864,970 (GRCm39) |
V255E |
probably damaging |
Het |
Pdp1 |
T |
C |
4: 11,960,907 (GRCm39) |
D468G |
possibly damaging |
Het |
Pgr |
C |
T |
9: 8,900,600 (GRCm39) |
|
probably benign |
Het |
Prrt2 |
T |
A |
7: 126,617,899 (GRCm39) |
Y345F |
probably benign |
Het |
Rbbp8nl |
T |
C |
2: 179,920,461 (GRCm39) |
T515A |
probably damaging |
Het |
Rc3h1 |
G |
T |
1: 160,757,823 (GRCm39) |
R47L |
probably damaging |
Het |
Rfpl4b |
T |
A |
10: 38,697,281 (GRCm39) |
I107F |
possibly damaging |
Het |
Rsbn1 |
T |
C |
3: 103,869,801 (GRCm39) |
F754S |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn3a |
T |
C |
2: 65,337,608 (GRCm39) |
T630A |
possibly damaging |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slco1a5 |
C |
A |
6: 142,194,542 (GRCm39) |
C367F |
probably damaging |
Het |
Slit1 |
A |
G |
19: 41,613,959 (GRCm39) |
|
probably null |
Het |
Slit2 |
G |
A |
5: 48,378,333 (GRCm39) |
|
probably null |
Het |
Stk16 |
T |
A |
1: 75,190,248 (GRCm39) |
M111K |
probably damaging |
Het |
Tbc1d2 |
T |
C |
4: 46,616,298 (GRCm39) |
I477V |
probably benign |
Het |
Tll1 |
T |
A |
8: 64,570,974 (GRCm39) |
E199D |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,424,407 (GRCm39) |
D459E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,541,881 (GRCm39) |
R25375G |
possibly damaging |
Het |
Tubgcp2 |
A |
T |
7: 139,578,701 (GRCm39) |
M757K |
possibly damaging |
Het |
Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
Ubqln5 |
A |
G |
7: 103,778,632 (GRCm39) |
V64A |
possibly damaging |
Het |
Usp47 |
A |
G |
7: 111,709,204 (GRCm39) |
M1337V |
probably benign |
Het |
Vmn1r201 |
T |
A |
13: 22,659,409 (GRCm39) |
Y208N |
probably damaging |
Het |
Xkr8 |
C |
T |
4: 132,455,368 (GRCm39) |
R335H |
probably damaging |
Het |
Zbtb49 |
A |
T |
5: 38,373,870 (GRCm39) |
C25S |
probably damaging |
Het |
Zeb2 |
T |
A |
2: 44,887,800 (GRCm39) |
N404I |
probably 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 |
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'- GAACCAGTGTTGTGCCATG -3'
(R):5'- ATGTCTCATGAACGGGCTGC -3'
Sequencing Primer
(F):5'- TGCCATGGGTATATAATTTCGAAAAG -3'
(R):5'- GTGGGCCTCAAAACTGTGCTTC -3'
|
Posted On |
2016-11-21 |