Incidental Mutation 'IGL03371:Ncbp1'
| ID |
420295 |
| 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 # |
IGL03371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
46138613-46172403 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 46171991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 786
(C786*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030013]
[ENSMUST00000030014]
[ENSMUST00000058232]
[ENSMUST00000132358]
|
| 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: ENSMUST00000030013
|
| SMART Domains |
Protein: ENSMUSP00000030013
Gene: ENSMUSG00000028329
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
55 |
N/A |
INTRINSIC |
|
Pfam:XPA_N
|
99 |
132 |
1.5e-20 |
PFAM |
|
Pfam:XPA_C
|
133 |
185 |
3.7e-28 |
PFAM |
|
low complexity region
|
212 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000030014
AA Change: C786*
|
| SMART Domains |
Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: C786*
| 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 |
probably benign
Transcript: ENSMUST00000132358
|
| SMART Domains |
Protein: ENSMUSP00000138512
Gene: ENSMUSG00000028329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:XPA_N
|
1 |
23 |
1.1e-13 |
PFAM |
|
Pfam:XPA_C
|
24 |
76 |
7.9e-29 |
PFAM |
|
low complexity region
|
103 |
114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141318
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
| Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
| Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
| Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,434,674 (GRCm39) |
C147S |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
| Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
| Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
| L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
| Mixl1 |
T |
C |
1: 180,522,191 (GRCm39) |
N230S |
probably benign |
Het |
| Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
| Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
| Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,038,052 (GRCm39) |
S567P |
probably benign |
Het |
| Sox8 |
G |
A |
17: 25,786,414 (GRCm39) |
R430C |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
| Tmem117 |
G |
A |
15: 94,909,274 (GRCm39) |
R229H |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
| Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation