Incidental Mutation 'IGL00840:Ncbp1'
| ID |
13639 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncbp1
|
| Ensembl Gene |
ENSMUSG00000028330 |
| Gene Name |
nuclear cap binding protein subunit 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00840
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46138613-46172403 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46161307 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 428
(W428R)
|
| 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 damaging
Transcript: ENSMUST00000030014
AA Change: W428R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: W428R
| 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: ENSMUST00000131187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133286
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
T |
C |
15: 94,282,482 (GRCm38) |
Y1764C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,799,159 (GRCm38) |
V200A |
possibly damaging |
Het |
| Akr1b10 |
T |
C |
6: 34,394,106 (GRCm38) |
S264P |
possibly damaging |
Het |
| Camkmt |
T |
G |
17: 85,458,123 (GRCm38) |
L319* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,720,152 (GRCm38) |
W513R |
probably damaging |
Het |
| Cts8 |
T |
C |
13: 61,251,578 (GRCm38) |
Y189C |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,404,490 (GRCm38) |
T264S |
probably benign |
Het |
| Dbt |
G |
A |
3: 116,546,114 (GRCm38) |
G384S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,790,941 (GRCm38) |
V3769M |
probably damaging |
Het |
| Dnajc16 |
C |
A |
4: 141,768,003 (GRCm38) |
G468V |
probably damaging |
Het |
| Eif3d |
A |
T |
15: 77,961,869 (GRCm38) |
N351K |
probably benign |
Het |
| F5 |
T |
C |
1: 164,179,524 (GRCm38) |
M299T |
probably benign |
Het |
| Fcamr |
G |
A |
1: 130,813,214 (GRCm38) |
V457M |
probably benign |
Het |
| Gm4763 |
A |
T |
7: 24,723,506 (GRCm38) |
L129H |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 78,765,437 (GRCm38) |
L1599P |
probably damaging |
Het |
| Kl |
A |
T |
5: 150,980,787 (GRCm38) |
I335F |
possibly damaging |
Het |
| Knop1 |
A |
G |
7: 118,852,798 (GRCm38) |
Y233H |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 88,753,736 (GRCm38) |
|
probably benign |
Het |
| Macrod2 |
A |
T |
2: 142,176,658 (GRCm38) |
N237I |
possibly damaging |
Het |
| Myo7a |
T |
C |
7: 98,051,659 (GRCm38) |
S2168G |
probably benign |
Het |
| Naxe |
T |
C |
3: 88,057,983 (GRCm38) |
I108V |
probably benign |
Het |
| Nxpe3 |
T |
C |
16: 55,844,232 (GRCm38) |
I542V |
probably damaging |
Het |
| Phkb |
T |
A |
8: 85,957,587 (GRCm38) |
S424R |
probably benign |
Het |
| Rgs20 |
C |
T |
1: 5,070,015 (GRCm38) |
V55I |
probably benign |
Het |
| Ros1 |
T |
G |
10: 52,144,873 (GRCm38) |
T648P |
possibly damaging |
Het |
| Rpgr |
T |
C |
X: 10,208,709 (GRCm38) |
I233V |
possibly damaging |
Het |
| Slc25a31 |
T |
C |
3: 40,724,877 (GRCm38) |
S258P |
probably benign |
Het |
| Soat1 |
A |
C |
1: 156,434,196 (GRCm38) |
V414G |
probably damaging |
Het |
| St18 |
A |
T |
1: 6,833,594 (GRCm38) |
E693V |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,063,555 (GRCm38) |
V1029A |
probably benign |
Het |
| Tnfaip3 |
C |
A |
10: 19,005,126 (GRCm38) |
V398L |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,562 (GRCm38) |
T259A |
probably benign |
Het |
| Wdr7 |
A |
G |
18: 63,927,327 (GRCm38) |
E1347G |
possibly damaging |
Het |
|
| Other mutations in Ncbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02085:Ncbp1
|
APN |
4 |
46,159,699 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02230:Ncbp1
|
APN |
4 |
46,165,272 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02561:Ncbp1
|
APN |
4 |
46,159,711 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL02574:Ncbp1
|
APN |
4 |
46,168,449 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
IGL03371:Ncbp1
|
APN |
4 |
46,171,991 (GRCm38) |
nonsense |
probably null |
|
|
R0549:Ncbp1
|
UTSW |
4 |
46,168,476 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0594:Ncbp1
|
UTSW |
4 |
46,170,551 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0699:Ncbp1
|
UTSW |
4 |
46,147,528 (GRCm38) |
missense |
probably benign |
0.17 |
|
R0725:Ncbp1
|
UTSW |
4 |
46,152,056 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0961:Ncbp1
|
UTSW |
4 |
46,165,193 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1330:Ncbp1
|
UTSW |
4 |
46,167,354 (GRCm38) |
missense |
probably benign |
0.19 |
|
R1622:Ncbp1
|
UTSW |
4 |
46,171,963 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R1756:Ncbp1
|
UTSW |
4 |
46,169,131 (GRCm38) |
nonsense |
probably null |
|
|
R2417:Ncbp1
|
UTSW |
4 |
46,168,530 (GRCm38) |
missense |
probably benign |
0.20 |
|
R4050:Ncbp1
|
UTSW |
4 |
46,147,483 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4132:Ncbp1
|
UTSW |
4 |
46,169,241 (GRCm38) |
nonsense |
probably null |
|
|
R4516:Ncbp1
|
UTSW |
4 |
46,157,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4795:Ncbp1
|
UTSW |
4 |
46,152,967 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4796:Ncbp1
|
UTSW |
4 |
46,152,967 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4960:Ncbp1
|
UTSW |
4 |
46,165,273 (GRCm38) |
nonsense |
probably null |
|
|
R5557:Ncbp1
|
UTSW |
4 |
46,165,259 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5626:Ncbp1
|
UTSW |
4 |
46,161,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5682:Ncbp1
|
UTSW |
4 |
46,170,474 (GRCm38) |
unclassified |
probably benign |
|
|
R5859:Ncbp1
|
UTSW |
4 |
46,163,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6377:Ncbp1
|
UTSW |
4 |
46,150,703 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6440:Ncbp1
|
UTSW |
4 |
46,147,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6793:Ncbp1
|
UTSW |
4 |
46,157,827 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7078:Ncbp1
|
UTSW |
4 |
46,155,756 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7434:Ncbp1
|
UTSW |
4 |
46,149,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7445:Ncbp1
|
UTSW |
4 |
46,149,914 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7477:Ncbp1
|
UTSW |
4 |
46,157,897 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7670:Ncbp1
|
UTSW |
4 |
46,170,015 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8424:Ncbp1
|
UTSW |
4 |
46,144,839 (GRCm38) |
missense |
probably benign |
|
|
R8970:Ncbp1
|
UTSW |
4 |
46,170,023 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9712:Ncbp1
|
UTSW |
4 |
46,144,837 (GRCm38) |
missense |
probably benign |
0.03 |
|
X0013:Ncbp1
|
UTSW |
4 |
46,150,702 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2012-12-06 |
Incidental Mutation