Incidental Mutation 'R9319:Snrnp40'
ID |
706025 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Snrnp40
|
Ensembl Gene |
ENSMUSG00000074088 |
Gene Name |
small nuclear ribonucleoprotein 40 (U5) |
Synonyms |
Wdr57, 0610009C03Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9319 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
130253925-130283819 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 130256545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 90
(L90P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101616
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105994]
[ENSMUST00000134159]
|
AlphaFold |
Q6PE01 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105994
AA Change: L90P
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101616 Gene: ENSMUSG00000074088 AA Change: L90P
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 |
probably benign
Transcript: ENSMUST00000134159
|
SMART Domains |
Protein: ENSMUSP00000120807 Gene: ENSMUSG00000028772
Domain | Start | End | E-Value | Type |
S1
|
14 |
86 |
4.47e-11 |
SMART |
ZnF_C2HC
|
132 |
148 |
4.56e-1 |
SMART |
low complexity region
|
160 |
171 |
N/A |
INTRINSIC |
low complexity region
|
182 |
211 |
N/A |
INTRINSIC |
low complexity region
|
227 |
240 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,922,446 (GRCm39) |
D811G |
probably damaging |
Het |
Akap13 |
A |
G |
7: 75,258,836 (GRCm39) |
T487A |
probably benign |
Het |
Ankrd6 |
C |
T |
4: 32,806,324 (GRCm39) |
S643N |
probably benign |
Het |
Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
Camk2b |
G |
T |
11: 5,927,814 (GRCm39) |
P489Q |
probably benign |
Het |
Cd22 |
T |
A |
7: 30,569,329 (GRCm39) |
N596Y |
probably damaging |
Het |
Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,203,648 (GRCm39) |
V1018E |
probably benign |
Het |
Cttn |
T |
C |
7: 144,017,100 (GRCm39) |
E34G |
probably damaging |
Het |
Dhx15 |
G |
A |
5: 52,342,193 (GRCm39) |
R42* |
probably null |
Het |
Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
Dlst |
G |
T |
12: 85,170,585 (GRCm39) |
R238L |
probably damaging |
Het |
Dnah7c |
A |
G |
1: 46,521,168 (GRCm39) |
E232G |
possibly damaging |
Het |
Dsg1b |
C |
T |
18: 20,531,004 (GRCm39) |
Q452* |
probably null |
Het |
Elovl3 |
A |
G |
19: 46,122,507 (GRCm39) |
T102A |
possibly damaging |
Het |
Epas1 |
A |
G |
17: 87,104,545 (GRCm39) |
S10G |
possibly damaging |
Het |
Fads2b |
G |
A |
2: 85,320,757 (GRCm39) |
R349C |
probably damaging |
Het |
Fanca |
T |
C |
8: 124,018,190 (GRCm39) |
I613V |
probably benign |
Het |
Fat1 |
T |
A |
8: 45,406,060 (GRCm39) |
V937D |
probably damaging |
Het |
Glipr1l1 |
G |
T |
10: 111,898,122 (GRCm39) |
A76S |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,205,005 (GRCm39) |
D1507G |
probably benign |
Het |
Ipo13 |
T |
C |
4: 117,769,585 (GRCm39) |
D69G |
probably benign |
Het |
Kif2c |
T |
C |
4: 117,035,445 (GRCm39) |
|
probably null |
Het |
Lrrc61 |
C |
A |
6: 48,545,228 (GRCm39) |
T17K |
probably damaging |
Het |
Ltk |
C |
A |
2: 119,590,096 (GRCm39) |
E43D |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,318,638 (GRCm39) |
T720A |
probably damaging |
Het |
Mcoln2 |
T |
A |
3: 145,875,691 (GRCm39) |
V81D |
probably damaging |
Het |
Mturn |
T |
A |
6: 54,658,780 (GRCm39) |
V9D |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,323,204 (GRCm39) |
D249G |
probably benign |
Het |
Ntng2 |
T |
C |
2: 29,091,121 (GRCm39) |
|
probably benign |
Het |
Odad3 |
T |
C |
9: 21,906,203 (GRCm39) |
D245G |
probably damaging |
Het |
Pax3 |
T |
A |
1: 78,080,079 (GRCm39) |
M436L |
probably benign |
Het |
Pias4 |
G |
A |
10: 80,991,750 (GRCm39) |
P53S |
unknown |
Het |
Pkhd1l1 |
C |
T |
15: 44,392,974 (GRCm39) |
R1770C |
possibly damaging |
Het |
Plk1 |
C |
A |
7: 121,768,122 (GRCm39) |
D447E |
probably damaging |
Het |
Rsph10b |
A |
C |
5: 143,903,337 (GRCm39) |
M611L |
probably benign |
Het |
Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
Snu13 |
T |
C |
15: 81,928,218 (GRCm39) |
T2A |
probably benign |
Het |
Sptlc3 |
C |
T |
2: 139,478,730 (GRCm39) |
A563V |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmx3 |
A |
G |
18: 90,558,068 (GRCm39) |
I373M |
probably benign |
Het |
Tpbg |
C |
T |
9: 85,725,991 (GRCm39) |
|
probably benign |
Het |
Troap |
T |
C |
15: 98,975,444 (GRCm39) |
I176T |
probably benign |
Het |
Trpm2 |
G |
A |
10: 77,778,776 (GRCm39) |
Q397* |
probably null |
Het |
Trpm2 |
A |
T |
10: 77,785,032 (GRCm39) |
V196E |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,361,018 (GRCm39) |
I196N |
probably damaging |
Het |
Vmn2r71 |
C |
T |
7: 85,273,694 (GRCm39) |
P836L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTATCCCTGACCCAGATG -3'
(R):5'- CGAAGCAACCTACTTTCCAATTAG -3'
Sequencing Primer
(F):5'- GCTATCCCTGACCCAGATGAGATG -3'
(R):5'- ACCTACTTTCCAATTAGTACATTTCC -3'
|
Posted On |
2022-03-25 |