Incidental Mutation 'R1330:Ncbp1'
ID |
156138 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncbp1
|
Ensembl Gene |
ENSMUSG00000028330 |
Gene Name |
nuclear cap binding protein subunit 1 |
Synonyms |
|
MMRRC Submission |
039395-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1330 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
46138613-46172403 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 46167354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 586
(V586M)
|
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: V586M
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000030014 Gene: ENSMUSG00000028330 AA Change: V586M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133286
|
Meta Mutation Damage Score |
0.1047 |
Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.2%
- 10x: 92.6%
- 20x: 82.0%
|
Validation Efficiency |
100% (40/40) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
T |
C |
7: 42,097,018 (GRCm39) |
T98A |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,085,814 (GRCm39) |
C38S |
probably benign |
Het |
Adgrf3 |
T |
A |
5: 30,400,093 (GRCm39) |
T83S |
probably benign |
Het |
Arhgef40 |
T |
C |
14: 52,227,613 (GRCm39) |
V453A |
probably benign |
Het |
Art4 |
A |
T |
6: 136,831,339 (GRCm39) |
|
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,882,081 (GRCm39) |
K1177R |
possibly damaging |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Ddx6 |
T |
C |
9: 44,539,070 (GRCm39) |
|
probably benign |
Het |
Dolk |
A |
T |
2: 30,175,112 (GRCm39) |
V311E |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,377,618 (GRCm39) |
N408S |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,637,116 (GRCm39) |
Y1049C |
possibly damaging |
Het |
Eva1c |
A |
C |
16: 90,701,284 (GRCm39) |
E318D |
probably damaging |
Het |
Frem3 |
T |
A |
8: 81,395,468 (GRCm39) |
W1832R |
probably damaging |
Het |
Jup |
A |
T |
11: 100,263,502 (GRCm39) |
I689N |
probably benign |
Het |
Kcnh7 |
A |
G |
2: 62,607,755 (GRCm39) |
S609P |
possibly damaging |
Het |
Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
Ncstn |
C |
T |
1: 171,899,092 (GRCm39) |
M346I |
probably damaging |
Het |
Osbpl1a |
A |
G |
18: 13,015,251 (GRCm39) |
|
probably null |
Het |
Pcdh12 |
A |
G |
18: 38,414,914 (GRCm39) |
V737A |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,684,542 (GRCm39) |
M600K |
probably damaging |
Het |
Rbm25 |
A |
G |
12: 83,724,666 (GRCm39) |
D805G |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,524,547 (GRCm39) |
T579I |
probably benign |
Het |
Rhod |
C |
A |
19: 4,476,182 (GRCm39) |
A190S |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Slc22a2 |
A |
C |
17: 12,805,699 (GRCm39) |
D150A |
possibly damaging |
Het |
Spink11 |
A |
G |
18: 44,329,195 (GRCm39) |
I17T |
unknown |
Het |
Tas1r2 |
A |
G |
4: 139,396,640 (GRCm39) |
I660V |
probably benign |
Het |
Utp20 |
G |
A |
10: 88,637,051 (GRCm39) |
P720L |
probably damaging |
Het |
Vmn1r1 |
A |
T |
1: 181,985,572 (GRCm39) |
L31H |
probably damaging |
Het |
Vmn2r23 |
T |
C |
6: 123,718,963 (GRCm39) |
L772P |
probably damaging |
Het |
Wap |
T |
C |
11: 6,586,818 (GRCm39) |
T94A |
unknown |
Het |
Wdr47 |
T |
C |
3: 108,537,069 (GRCm39) |
S586P |
probably benign |
Het |
Zfp318 |
A |
G |
17: 46,724,684 (GRCm39) |
Y2229C |
possibly damaging |
Het |
Zfp429 |
T |
C |
13: 67,544,262 (GRCm39) |
|
probably null |
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 |
R0725:Ncbp1
|
UTSW |
4 |
46,152,056 (GRCm39) |
missense |
probably benign |
0.01 |
R0961:Ncbp1
|
UTSW |
4 |
46,165,193 (GRCm39) |
missense |
possibly damaging |
0.69 |
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'- GGAAAGAGCACTCTCCTAAGCTGATG -3'
(R):5'- TCCCAATGCCACCTGAAGAATGTTAC -3'
Sequencing Primer
(F):5'- TCGGGCGCAGTTCCAAC -3'
(R):5'- cgatggcaagttggacaag -3'
|
Posted On |
2014-02-11 |