Incidental Mutation 'R0725:Ncbp1'
ID |
218368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncbp1
|
Ensembl Gene |
ENSMUSG00000028330 |
Gene Name |
nuclear cap binding protein subunit 1 |
Synonyms |
|
MMRRC Submission |
038907-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0725 (G1)
|
Quality Score |
36 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46138613-46172403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 46152056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 218
(T218A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030014
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030014]
[ENSMUST00000058232]
|
AlphaFold |
Q3UYV9 |
PDB Structure |
Mouse importin alpha: mouse CBP80 cNLS complex [X-RAY DIFFRACTION]
Mouse importin alpha: mouse CBP80Y8D cNLS complex [X-RAY DIFFRACTION]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000030014
AA Change: T218A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000030014 Gene: ENSMUSG00000028330 AA Change: T218A
Domain | Start | End | E-Value | Type |
MIF4G
|
28 |
240 |
1.33e-38 |
SMART |
Pfam:MIF4G_like
|
309 |
471 |
1.4e-37 |
PFAM |
Pfam:MIF4G_like_2
|
485 |
754 |
4e-78 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058232
|
SMART Domains |
Protein: ENSMUSP00000050453 Gene: ENSMUSG00000028329
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
55 |
N/A |
INTRINSIC |
Pfam:XPA_N
|
101 |
132 |
5.2e-18 |
PFAM |
Pfam:XPA_C
|
134 |
185 |
3e-30 |
PFAM |
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
100% (70/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a component of the nuclear cap-binding protein complex (CBC), which binds to the monomethylated 5' cap of nascent pre-mRNA in the nucleoplasm. The encoded protein promotes high-affinity mRNA-cap binding and associates with the CTD of RNA polymerase II. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asph |
C |
T |
4: 9,542,275 (GRCm39) |
D305N |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,170,205 (GRCm39) |
K327R |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,026,264 (GRCm39) |
|
probably benign |
Het |
Ccnk |
T |
C |
12: 108,161,834 (GRCm39) |
|
probably benign |
Het |
Cep55 |
T |
C |
19: 38,048,622 (GRCm39) |
S93P |
possibly damaging |
Het |
Cfap300 |
A |
T |
9: 8,027,144 (GRCm39) |
D131E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,085,081 (GRCm39) |
|
probably benign |
Het |
Clptm1l |
A |
G |
13: 73,754,462 (GRCm39) |
T129A |
probably benign |
Het |
Cntnap5a |
A |
G |
1: 116,220,206 (GRCm39) |
E672G |
probably benign |
Het |
Cpped1 |
C |
A |
16: 11,646,314 (GRCm39) |
W170L |
probably damaging |
Het |
Crygb |
T |
C |
1: 65,121,100 (GRCm39) |
I76V |
probably benign |
Het |
Cyp3a25 |
A |
G |
5: 145,931,746 (GRCm39) |
S121P |
probably damaging |
Het |
Cyp4b1 |
T |
C |
4: 115,484,024 (GRCm39) |
D395G |
probably damaging |
Het |
Dll4 |
T |
C |
2: 119,163,170 (GRCm39) |
V597A |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,833,528 (GRCm39) |
D1891G |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,787,682 (GRCm39) |
D951G |
possibly damaging |
Het |
Dync2h1 |
C |
A |
9: 7,015,497 (GRCm39) |
V3603F |
possibly damaging |
Het |
Fam167b |
C |
A |
4: 129,472,078 (GRCm39) |
A31S |
probably damaging |
Het |
Fgfrl1 |
T |
A |
5: 108,852,539 (GRCm39) |
I25N |
probably damaging |
Het |
Gzf1 |
C |
T |
2: 148,526,569 (GRCm39) |
R347* |
probably null |
Het |
Heatr5b |
T |
A |
17: 79,103,825 (GRCm39) |
I1117F |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,907,767 (GRCm39) |
V456A |
possibly damaging |
Het |
Macc1 |
C |
A |
12: 119,411,251 (GRCm39) |
S673* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,160,581 (GRCm39) |
E574G |
probably damaging |
Het |
Muc20 |
C |
T |
16: 32,613,858 (GRCm39) |
M506I |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,716,473 (GRCm39) |
V46E |
probably benign |
Het |
Nfyc |
G |
T |
4: 120,625,931 (GRCm39) |
|
probably benign |
Het |
Niban1 |
A |
G |
1: 151,581,766 (GRCm39) |
E454G |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,423,739 (GRCm39) |
S3T |
probably benign |
Het |
Or8g55 |
A |
T |
9: 39,784,643 (GRCm39) |
Q24L |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,122,101 (GRCm39) |
F681S |
possibly damaging |
Het |
Pcm1 |
G |
C |
8: 41,740,848 (GRCm39) |
E1031D |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,115,730 (GRCm39) |
E1486G |
probably benign |
Het |
Pex12 |
G |
T |
11: 83,188,860 (GRCm39) |
A45E |
probably damaging |
Het |
Pheta1 |
T |
A |
5: 121,991,314 (GRCm39) |
H225Q |
probably benign |
Het |
Pigm |
A |
G |
1: 172,204,384 (GRCm39) |
D40G |
probably damaging |
Het |
Pkp1 |
G |
T |
1: 135,808,478 (GRCm39) |
N496K |
probably benign |
Het |
Psmc4 |
T |
C |
7: 27,748,287 (GRCm39) |
I54V |
probably benign |
Het |
Rbm33 |
T |
C |
5: 28,599,481 (GRCm39) |
V951A |
unknown |
Het |
Selenbp2 |
G |
T |
3: 94,604,809 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
G |
A |
17: 85,368,263 (GRCm39) |
W510* |
probably null |
Het |
Stx12 |
A |
C |
4: 132,584,701 (GRCm39) |
|
probably benign |
Het |
Tas2r125 |
G |
T |
6: 132,887,085 (GRCm39) |
D158Y |
probably benign |
Het |
Tchp |
C |
A |
5: 114,857,682 (GRCm39) |
Q392K |
probably benign |
Het |
Tmed11 |
T |
A |
5: 108,926,855 (GRCm39) |
D139V |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,578,654 (GRCm39) |
V24080M |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,683,722 (GRCm39) |
G4967D |
probably damaging |
Het |
Vezf1 |
T |
C |
11: 87,964,156 (GRCm39) |
S103P |
probably benign |
Het |
Xpnpep3 |
T |
C |
15: 81,315,043 (GRCm39) |
S248P |
probably damaging |
Het |
Yipf2 |
G |
C |
9: 21,503,519 (GRCm39) |
|
probably null |
Het |
Zfp110 |
A |
T |
7: 12,570,290 (GRCm39) |
Q39L |
possibly damaging |
Het |
Zfp287 |
A |
T |
11: 62,605,039 (GRCm39) |
C623S |
probably damaging |
Het |
|
Other mutations in Ncbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00840:Ncbp1
|
APN |
4 |
46,161,307 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02085:Ncbp1
|
APN |
4 |
46,159,699 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02230:Ncbp1
|
APN |
4 |
46,165,272 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02561:Ncbp1
|
APN |
4 |
46,159,711 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02574:Ncbp1
|
APN |
4 |
46,168,449 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03371:Ncbp1
|
APN |
4 |
46,171,991 (GRCm39) |
nonsense |
probably null |
|
R0549:Ncbp1
|
UTSW |
4 |
46,168,476 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0594:Ncbp1
|
UTSW |
4 |
46,170,551 (GRCm39) |
missense |
probably benign |
0.00 |
R0699:Ncbp1
|
UTSW |
4 |
46,147,528 (GRCm39) |
missense |
probably benign |
0.17 |
R0961:Ncbp1
|
UTSW |
4 |
46,165,193 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1330:Ncbp1
|
UTSW |
4 |
46,167,354 (GRCm39) |
missense |
probably benign |
0.19 |
R1622:Ncbp1
|
UTSW |
4 |
46,171,963 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1756:Ncbp1
|
UTSW |
4 |
46,169,131 (GRCm39) |
nonsense |
probably null |
|
R2417:Ncbp1
|
UTSW |
4 |
46,168,530 (GRCm39) |
missense |
probably benign |
0.20 |
R4050:Ncbp1
|
UTSW |
4 |
46,147,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R4132:Ncbp1
|
UTSW |
4 |
46,169,241 (GRCm39) |
nonsense |
probably null |
|
R4516:Ncbp1
|
UTSW |
4 |
46,157,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R4795:Ncbp1
|
UTSW |
4 |
46,152,967 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4796:Ncbp1
|
UTSW |
4 |
46,152,967 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4960:Ncbp1
|
UTSW |
4 |
46,165,273 (GRCm39) |
nonsense |
probably null |
|
R5557:Ncbp1
|
UTSW |
4 |
46,165,259 (GRCm39) |
missense |
probably benign |
0.01 |
R5626:Ncbp1
|
UTSW |
4 |
46,161,290 (GRCm39) |
missense |
probably damaging |
1.00 |
R5682:Ncbp1
|
UTSW |
4 |
46,170,474 (GRCm39) |
unclassified |
probably benign |
|
R5859:Ncbp1
|
UTSW |
4 |
46,163,026 (GRCm39) |
missense |
probably benign |
0.00 |
R6377:Ncbp1
|
UTSW |
4 |
46,150,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R6440:Ncbp1
|
UTSW |
4 |
46,147,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R6793:Ncbp1
|
UTSW |
4 |
46,157,827 (GRCm39) |
missense |
probably damaging |
0.99 |
R7078:Ncbp1
|
UTSW |
4 |
46,155,756 (GRCm39) |
missense |
probably benign |
0.00 |
R7434:Ncbp1
|
UTSW |
4 |
46,149,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:Ncbp1
|
UTSW |
4 |
46,149,914 (GRCm39) |
missense |
probably damaging |
0.98 |
R7477:Ncbp1
|
UTSW |
4 |
46,157,897 (GRCm39) |
missense |
probably damaging |
1.00 |
R7670:Ncbp1
|
UTSW |
4 |
46,170,015 (GRCm39) |
missense |
probably damaging |
0.96 |
R8424:Ncbp1
|
UTSW |
4 |
46,144,839 (GRCm39) |
missense |
probably benign |
|
R8970:Ncbp1
|
UTSW |
4 |
46,170,023 (GRCm39) |
missense |
probably damaging |
0.99 |
R9712:Ncbp1
|
UTSW |
4 |
46,144,837 (GRCm39) |
missense |
probably benign |
0.03 |
X0013:Ncbp1
|
UTSW |
4 |
46,150,702 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Predicted Primers |
PCR Primer
(F):5'- CACAGATGTCAGTAACACAGTGTGTGAA -3'
(R):5'- AGACGTACAAGTACAACAGGCTGAAC -3'
Sequencing Primer
(F):5'- ggttcctggtacgataaacaag -3'
(R):5'- gcagcacacaatccacag -3'
|
Posted On |
2014-08-01 |