Incidental Mutation 'R1236:Snrnp40'
ID |
152426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1236 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 96.3%
- 20x: 92.8%
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
Sgcg |
T |
C |
14: 61,483,219 (GRCm39) |
M61V |
probably damaging |
Het |
Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
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 |
|
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 |
|
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'- CTAAGTGGGTGCAGGGAATCATA -3'
(R):5'- TAATCTGATCGCTCGTGTCATTG -3'
Sequencing Primer
(F):5'- ATACGTGGGTGCTCTGGAAG -3'
(R):5'- TTGAAGGTCACAGCCAACAC -3'
|
Posted On |
2014-01-29 |