Incidental Mutation 'R6448:Ncbp2'
| ID |
519267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp2
|
| Ensembl Gene |
ENSMUSG00000022774 |
| Gene Name |
nuclear cap binding protein subunit 2 |
| Synonyms |
20kDa |
| MMRRC Submission |
044584-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6448 (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: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
97% (32/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap5 |
A |
T |
12: 52,564,446 (GRCm39) |
K472N |
probably benign |
Het |
| C2 |
T |
G |
17: 35,082,335 (GRCm39) |
D298A |
possibly damaging |
Het |
| Col16a1 |
T |
G |
4: 129,952,781 (GRCm39) |
L409R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 70,900,325 (GRCm39) |
E380G |
possibly damaging |
Het |
| Fam111a |
C |
A |
19: 12,565,701 (GRCm39) |
H483Q |
probably benign |
Het |
| Fancc |
C |
T |
13: 63,488,242 (GRCm39) |
R246Q |
probably damaging |
Het |
| Glb1 |
A |
T |
9: 114,263,499 (GRCm39) |
Q256L |
probably damaging |
Het |
| Gm9195 |
A |
T |
14: 72,671,451 (GRCm39) |
D2611E |
possibly damaging |
Het |
| Gsto1 |
C |
T |
19: 47,846,420 (GRCm39) |
T89I |
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,310,832 (GRCm39) |
S3359G |
probably benign |
Het |
| Hook3 |
T |
A |
8: 26,583,692 (GRCm39) |
N87I |
probably benign |
Het |
| Htt |
T |
A |
5: 35,033,336 (GRCm39) |
M1868K |
probably benign |
Het |
| Ighv1-19 |
T |
C |
12: 114,672,296 (GRCm39) |
E107G |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,356,986 (GRCm39) |
M48K |
probably benign |
Het |
| Inpp5j |
T |
C |
11: 3,445,387 (GRCm39) |
H822R |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,431,085 (GRCm39) |
V1161F |
probably damaging |
Het |
| Klhdc2 |
T |
A |
12: 69,350,694 (GRCm39) |
D169E |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,129,389 (GRCm39) |
|
probably null |
Het |
| Myh15 |
T |
G |
16: 48,992,295 (GRCm39) |
S1590A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,038,826 (GRCm39) |
D6748G |
probably damaging |
Het |
| Nfrkb |
T |
C |
9: 31,306,085 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or6c208 |
A |
T |
10: 129,224,021 (GRCm39) |
D173V |
probably damaging |
Het |
| Or7a39 |
G |
A |
10: 78,715,516 (GRCm39) |
C170Y |
possibly damaging |
Het |
| Or8k20 |
T |
A |
2: 86,106,691 (GRCm39) |
I47F |
probably benign |
Het |
| Prm2 |
G |
A |
16: 10,609,825 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,766,446 (GRCm39) |
T1283A |
probably benign |
Het |
| Rest |
T |
C |
5: 77,429,318 (GRCm39) |
L579P |
possibly damaging |
Het |
| Slc6a1 |
C |
T |
6: 114,279,047 (GRCm39) |
T46I |
possibly damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,861 (GRCm39) |
I1530T |
probably benign |
Het |
| Tox |
T |
G |
4: 6,822,975 (GRCm39) |
D114A |
probably benign |
Het |
| Ulk4 |
C |
T |
9: 120,932,696 (GRCm39) |
G1048D |
probably damaging |
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 |
|
|
R6530: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'- GCCCAGAAGTCGTGTTAGAC -3'
(R):5'- CACTAACAAGCACAAGTTCCTT -3'
Sequencing Primer
(F):5'- CCAGAAGTCGTGTTAGACCAACTTTG -3'
(R):5'- TAACAAGCACAAGTTCCTTACAAAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation