Incidental Mutation 'IGL02085:Ncbp1'
| ID |
283495 |
| 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 # |
IGL02085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46138613-46172403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 46159699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 404
(T404M)
|
| 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: T404M
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: T404M
| 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
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
G |
9: 44,192,854 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
T |
A |
13: 4,128,035 (GRCm39) |
C145* |
probably null |
Het |
| Arhgef26 |
A |
G |
3: 62,367,145 (GRCm39) |
|
probably benign |
Het |
| Asb9 |
A |
G |
X: 163,318,452 (GRCm39) |
M215V |
probably benign |
Het |
| Atoh8 |
C |
A |
6: 72,212,157 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
T |
A |
6: 83,730,897 (GRCm39) |
|
probably benign |
Het |
| Cep97 |
T |
C |
16: 55,735,868 (GRCm39) |
E310G |
probably damaging |
Het |
| Ctrc |
C |
T |
4: 141,571,025 (GRCm39) |
D72N |
possibly damaging |
Het |
| Dnah2 |
A |
G |
11: 69,349,011 (GRCm39) |
I2492T |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,582,144 (GRCm39) |
V194A |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,500,586 (GRCm39) |
T524A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,313,505 (GRCm39) |
N497S |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,191 (GRCm39) |
C319* |
probably null |
Het |
| Galnt10 |
A |
G |
11: 57,673,104 (GRCm39) |
T487A |
probably benign |
Het |
| Hecw2 |
T |
A |
1: 53,981,961 (GRCm39) |
|
probably null |
Het |
| Hmg20a |
C |
T |
9: 56,384,586 (GRCm39) |
Q119* |
probably null |
Het |
| Ifi44l |
A |
G |
3: 151,468,477 (GRCm39) |
S18P |
unknown |
Het |
| Immt |
T |
A |
6: 71,828,820 (GRCm39) |
V125E |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,451,437 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,779,321 (GRCm39) |
G2574S |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,467,343 (GRCm39) |
C171R |
probably benign |
Het |
| Npy6r |
A |
G |
18: 44,408,998 (GRCm39) |
N140D |
probably damaging |
Het |
| Nrxn2 |
A |
T |
19: 6,542,898 (GRCm39) |
M1041L |
possibly damaging |
Het |
| Nsmaf |
G |
A |
4: 6,398,551 (GRCm39) |
P851L |
probably benign |
Het |
| Nutm2 |
T |
A |
13: 50,627,829 (GRCm39) |
|
probably null |
Het |
| Or10ak8 |
A |
G |
4: 118,773,947 (GRCm39) |
F239S |
probably damaging |
Het |
| Or2g25 |
A |
G |
17: 37,970,579 (GRCm39) |
V215A |
probably benign |
Het |
| Or4f61 |
A |
C |
2: 111,922,869 (GRCm39) |
M59R |
probably damaging |
Het |
| Padi2 |
T |
G |
4: 140,654,468 (GRCm39) |
Y206* |
probably null |
Het |
| Pcdh19 |
A |
T |
X: 132,582,007 (GRCm39) |
Y766* |
probably null |
Het |
| Pde12 |
A |
G |
14: 26,387,619 (GRCm39) |
|
probably benign |
Het |
| Ppl |
C |
T |
16: 4,907,680 (GRCm39) |
G872R |
probably benign |
Het |
| Prkag3 |
C |
T |
1: 74,787,971 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
T |
C |
3: 151,541,437 (GRCm39) |
T24A |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,321,283 (GRCm39) |
V365A |
probably benign |
Het |
| Shank3 |
T |
C |
15: 89,388,118 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
T |
C |
6: 142,032,200 (GRCm39) |
T642A |
probably benign |
Het |
| Slco6d1 |
C |
A |
1: 98,371,468 (GRCm39) |
P275T |
probably damaging |
Het |
| Smarca1 |
G |
T |
X: 46,964,109 (GRCm39) |
Q343K |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,567,495 (GRCm39) |
T180A |
possibly damaging |
Het |
| Tfrc |
G |
A |
16: 32,440,004 (GRCm39) |
V406I |
probably benign |
Het |
| Tigit |
C |
T |
16: 43,469,473 (GRCm39) |
G206D |
probably benign |
Het |
| Triobp |
G |
A |
15: 78,858,497 (GRCm39) |
|
probably benign |
Het |
| Trmo |
T |
C |
4: 46,380,217 (GRCm39) |
Y384C |
probably damaging |
Het |
| Vmn1r89 |
T |
A |
7: 12,953,465 (GRCm39) |
I67N |
probably damaging |
Het |
| Wdr17 |
C |
A |
8: 55,140,771 (GRCm39) |
E194* |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation