Incidental Mutation 'R5075:Snrnp40'
ID |
386917 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
MMRRC Submission |
042664-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5075 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130253925-130283819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130282375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 311
(Y311H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105994]
|
AlphaFold |
Q6PE01 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105994
AA Change: Y311H
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000101616 Gene: ENSMUSG00000074088 AA Change: Y311H
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: ENSMUST00000181560
|
Meta Mutation Damage Score |
0.0962 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.3%
|
Validation Efficiency |
100% (57/57) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
G |
3: 116,587,456 (GRCm39) |
F33S |
probably damaging |
Het |
Atf7ip |
A |
G |
6: 136,537,232 (GRCm39) |
D163G |
probably benign |
Het |
Cep85 |
C |
A |
4: 133,859,678 (GRCm39) |
D662Y |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,809,991 (GRCm39) |
S558T |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,958,731 (GRCm39) |
|
probably null |
Het |
Dnah8 |
T |
A |
17: 31,019,505 (GRCm39) |
N3859K |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Dnajc21 |
G |
T |
15: 10,461,963 (GRCm39) |
T146K |
probably benign |
Het |
Ep400 |
T |
C |
5: 110,833,351 (GRCm39) |
E1957G |
unknown |
Het |
Esm1 |
A |
G |
13: 113,349,892 (GRCm39) |
Y104C |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,239,266 (GRCm39) |
K613R |
probably damaging |
Het |
Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
Gm5592 |
A |
G |
7: 40,808,387 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
A |
G |
1: 91,923,842 (GRCm39) |
S223P |
probably benign |
Het |
Hypk |
A |
G |
2: 121,286,111 (GRCm39) |
|
probably benign |
Het |
Kpna1 |
T |
A |
16: 35,829,722 (GRCm39) |
F70I |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,296,102 (GRCm39) |
Y3336H |
probably benign |
Het |
Mier1 |
A |
G |
4: 102,996,670 (GRCm39) |
D99G |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,754,794 (GRCm38) |
|
probably benign |
Het |
Nup160 |
A |
G |
2: 90,530,518 (GRCm39) |
E463G |
probably damaging |
Het |
Or5b121 |
T |
A |
19: 13,507,637 (GRCm39) |
M244K |
probably benign |
Het |
Peg3 |
A |
T |
7: 6,711,419 (GRCm39) |
C1268S |
probably damaging |
Het |
Recql4 |
G |
A |
15: 76,593,744 (GRCm39) |
P122L |
probably damaging |
Het |
Rex2 |
A |
T |
4: 147,142,151 (GRCm39) |
Q213L |
possibly damaging |
Het |
Rnf25 |
A |
G |
1: 74,634,803 (GRCm39) |
V73A |
probably benign |
Het |
Sacm1l |
A |
G |
9: 123,411,327 (GRCm39) |
D372G |
probably benign |
Het |
Selplg |
T |
C |
5: 113,958,045 (GRCm39) |
D87G |
probably benign |
Het |
Sgsh |
G |
A |
11: 119,237,594 (GRCm39) |
T340M |
probably benign |
Het |
Slc4a3 |
A |
T |
1: 75,534,012 (GRCm39) |
I1120F |
probably damaging |
Het |
Spata31e2 |
T |
C |
1: 26,722,133 (GRCm39) |
K1016E |
probably damaging |
Het |
Stard7 |
A |
T |
2: 127,111,879 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
T |
1: 52,161,871 (GRCm39) |
K40M |
possibly damaging |
Het |
Sun1 |
T |
C |
5: 139,212,646 (GRCm39) |
|
probably null |
Het |
Tet2 |
T |
A |
3: 133,192,667 (GRCm39) |
Q589L |
probably benign |
Het |
Tmc7 |
A |
T |
7: 118,151,919 (GRCm39) |
|
probably null |
Het |
Tmt1b |
A |
G |
10: 128,796,549 (GRCm39) |
F87L |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,041,213 (GRCm39) |
I749F |
possibly damaging |
Het |
Ust |
A |
G |
10: 8,393,988 (GRCm39) |
F59S |
probably damaging |
Het |
Wdr81 |
A |
T |
11: 75,343,307 (GRCm39) |
D653E |
probably benign |
Het |
Zfat |
A |
G |
15: 68,052,079 (GRCm39) |
S572P |
probably benign |
Het |
Zmynd15 |
G |
C |
11: 70,352,946 (GRCm39) |
E143D |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,749,170 (GRCm39) |
E886G |
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 |
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'- AGCATAATCAGTCATGGGCTG -3'
(R):5'- TACATAACTGACTCCGGCCTG -3'
Sequencing Primer
(F):5'- GCTGTCCTGGAACAAACTCTGTAG -3'
(R):5'- TGCCTCTGTACCCCTAAGG -3'
|
Posted On |
2016-06-06 |