Incidental Mutation 'R6530:Ncbp2'
| ID |
522297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp2
|
| Ensembl Gene |
ENSMUSG00000022774 |
| Gene Name |
nuclear cap binding protein subunit 2 |
| Synonyms |
20kDa |
| MMRRC Submission |
044656-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6530 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
31767364-31777290 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CGTCTGGATG to CG
at 31775161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023460]
[ENSMUST00000115178]
[ENSMUST00000126215]
[ENSMUST00000231360]
|
| AlphaFold |
Q9CQ49 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023460
|
| SMART Domains |
Protein: ENSMUSP00000023460
Gene: ENSMUSG00000022774
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
41 |
114 |
6.96e-23 |
SMART |
|
low complexity region
|
122 |
135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115178
|
| SMART Domains |
Protein: ENSMUSP00000110832
Gene: ENSMUSG00000022774
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3FEY|B
|
1 |
103 |
7e-42 |
PDB |
|
Blast:RRM
|
41 |
61 |
2e-6 |
BLAST |
|
SCOP:d1qm9a1
|
41 |
97 |
4e-4 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000126215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140965
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231360
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (36/36) |
| 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 has an RNP domain commonly found in RNA binding proteins, and contains the cap-binding activity. The CBC promotes pre-mRNA splicing, 3'-end processing, RNA nuclear export, and nonsense-mediated mRNA decay. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
T |
C |
5: 35,746,039 (GRCm39) |
L74P |
possibly damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,364 (GRCm39) |
T575A |
probably benign |
Het |
| Adck5 |
T |
G |
15: 76,478,047 (GRCm39) |
D224E |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,448,979 (GRCm39) |
N376S |
probably damaging |
Het |
| Atl3 |
T |
A |
19: 7,499,499 (GRCm39) |
D254E |
probably benign |
Het |
| Cacnb2 |
G |
T |
2: 14,979,978 (GRCm39) |
A274S |
probably damaging |
Het |
| Car2 |
T |
C |
3: 14,961,791 (GRCm39) |
V159A |
probably benign |
Het |
| Ccdc138 |
G |
C |
10: 58,380,790 (GRCm39) |
G474R |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,124,558 (GRCm39) |
T203A |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,865 (GRCm39) |
I877T |
probably damaging |
Het |
| Dnah7a |
C |
T |
1: 53,542,856 (GRCm39) |
R2438H |
probably benign |
Het |
| Efhc1 |
T |
A |
1: 21,031,366 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
G |
A |
2: 125,231,190 (GRCm39) |
R459C |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,889,785 (GRCm39) |
|
probably null |
Het |
| Gm5114 |
G |
A |
7: 39,057,514 (GRCm39) |
P702S |
probably damaging |
Het |
| Inpp5f |
T |
A |
7: 128,265,802 (GRCm39) |
Y182* |
probably null |
Het |
| Irf6 |
C |
T |
1: 192,839,657 (GRCm39) |
T44M |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,499,847 (GRCm39) |
N87S |
probably benign |
Het |
| Mtrf1 |
A |
T |
14: 79,640,331 (GRCm39) |
Q162L |
possibly damaging |
Het |
| Myoz3 |
G |
T |
18: 60,712,592 (GRCm39) |
|
probably null |
Het |
| Nkd2 |
C |
T |
13: 73,970,809 (GRCm39) |
G258R |
probably null |
Het |
| Or8k27 |
A |
C |
2: 86,275,826 (GRCm39) |
S167A |
probably benign |
Het |
| Parg |
T |
C |
14: 31,931,156 (GRCm39) |
S176P |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,860,617 (GRCm39) |
V891G |
probably benign |
Het |
| Rasl10a |
T |
A |
11: 5,008,367 (GRCm39) |
I21N |
probably damaging |
Het |
| Reg4 |
T |
C |
3: 98,132,148 (GRCm39) |
V20A |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,070,011 (GRCm39) |
S1462R |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,471,950 (GRCm39) |
|
probably null |
Het |
| Sult1e1 |
T |
C |
5: 87,724,147 (GRCm39) |
E270G |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,631 (GRCm39) |
F1436V |
probably damaging |
Het |
| Ttc33 |
A |
G |
15: 5,241,603 (GRCm39) |
|
probably null |
Het |
| Ucp2 |
A |
T |
7: 100,147,430 (GRCm39) |
E161D |
probably benign |
Het |
| Vmn2r79 |
T |
C |
7: 86,651,252 (GRCm39) |
F217S |
possibly damaging |
Het |
| Wdr93 |
G |
A |
7: 79,405,741 (GRCm39) |
A207T |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,586,939 (GRCm39) |
S133P |
probably damaging |
Het |
| Zfp949 |
T |
C |
9: 88,449,340 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ncbp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02875:Ncbp2
|
APN |
16 |
31,772,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Ncbp2
|
UTSW |
16 |
31,775,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2185:Ncbp2
|
UTSW |
16 |
31,775,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Ncbp2
|
UTSW |
16 |
31,775,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2271:Ncbp2
|
UTSW |
16 |
31,775,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2272:Ncbp2
|
UTSW |
16 |
31,775,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6405:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6406:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6406:Ncbp2
|
UTSW |
16 |
31,775,159 (GRCm39) |
frame shift |
probably null |
|
|
R6444:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6446:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6448:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6531:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R9556:Ncbp2
|
UTSW |
16 |
31,775,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAGAAGTCGTGTTAGACCA -3'
(R):5'- CACTAACAAGCACAAGTTCCTT -3'
Sequencing Primer
(F):5'- CCAGAAGTCGTGTTAGACCAACTTTG -3'
(R):5'- TAACAAGCACAAGTTCCTTACAAAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation