Incidental Mutation 'R6444:Ncbp2'
| ID |
519143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp2
|
| Ensembl Gene |
ENSMUSG00000022774 |
| Gene Name |
nuclear cap binding protein subunit 2 |
| Synonyms |
20kDa |
| MMRRC Submission |
044582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6444 (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: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
100% (37/37) |
| 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 |
|---|
| A430033K04Rik |
ACAGAGCAGTGCCTACCAG |
ACAG |
5: 138,637,831 (GRCm39) |
|
probably benign |
Het |
| Bcas2 |
T |
A |
3: 103,079,362 (GRCm39) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,317,956 (GRCm39) |
I233N |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,150,785 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
T |
C |
10: 116,335,260 (GRCm39) |
D246G |
probably benign |
Het |
| Cped1 |
A |
C |
6: 21,986,930 (GRCm39) |
I41L |
probably benign |
Het |
| Dcdc2c |
A |
G |
12: 28,585,475 (GRCm39) |
V174A |
probably damaging |
Het |
| Dscam |
G |
A |
16: 96,420,844 (GRCm39) |
R1681C |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,167,822 (GRCm39) |
V1755M |
probably benign |
Het |
| Eif5b |
G |
A |
1: 38,075,292 (GRCm39) |
D590N |
probably damaging |
Het |
| Fntb |
A |
G |
12: 76,963,214 (GRCm39) |
Y399C |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,338,077 (GRCm39) |
M1V |
probably null |
Het |
| Galnt15 |
T |
C |
14: 31,762,368 (GRCm39) |
F199L |
probably damaging |
Het |
| Gm8229 |
A |
T |
14: 44,602,928 (GRCm39) |
H38L |
unknown |
Het |
| Magel2 |
T |
C |
7: 62,029,747 (GRCm39) |
Y884H |
unknown |
Het |
| Miga1 |
A |
T |
3: 151,989,468 (GRCm39) |
V473E |
probably damaging |
Het |
| Mrgprx1 |
C |
T |
7: 47,671,562 (GRCm39) |
V62I |
possibly damaging |
Het |
| Mybl1 |
G |
A |
1: 9,755,917 (GRCm39) |
P211S |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,786,134 (GRCm39) |
H254R |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,453,017 (GRCm39) |
T6A |
possibly damaging |
Het |
| Or5b119 |
A |
T |
19: 13,456,794 (GRCm39) |
M256K |
possibly damaging |
Het |
| Or8g20 |
T |
C |
9: 39,395,614 (GRCm39) |
T309A |
probably benign |
Het |
| Psmd12 |
A |
G |
11: 107,377,280 (GRCm39) |
E113G |
possibly damaging |
Het |
| Ptpn3 |
T |
C |
4: 57,195,730 (GRCm39) |
D879G |
possibly damaging |
Het |
| Rufy3 |
A |
G |
5: 88,785,166 (GRCm39) |
Q414R |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,197,317 (GRCm39) |
I813T |
probably damaging |
Het |
| Smok2a |
G |
T |
17: 13,444,500 (GRCm39) |
A26S |
probably benign |
Het |
| Spsb3 |
T |
A |
17: 25,110,550 (GRCm39) |
L459Q |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,225,142 (GRCm39) |
V609A |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,365 (GRCm39) |
A42E |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,470 (GRCm39) |
V682A |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,488 (GRCm39) |
K321E |
possibly damaging |
Het |
| Ttc17 |
A |
C |
2: 94,133,891 (GRCm39) |
M1098R |
possibly damaging |
Het |
| Ydjc |
C |
A |
16: 16,965,545 (GRCm39) |
H136Q |
probably damaging |
Het |
| Zfp568 |
A |
T |
7: 29,716,682 (GRCm39) |
H193L |
probably benign |
Het |
| Znhit1 |
A |
G |
5: 137,011,254 (GRCm39) |
V153A |
probably benign |
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 |
|
|
R6446:Ncbp2
|
UTSW |
16 |
31,775,161 (GRCm39) |
frame shift |
probably null |
|
|
R6448: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'- GCCCAGAAGTCGTGTTAGACC -3'
(R):5'- ACACTAACAAGCACAAGTTCCTT -3'
Sequencing Primer
(F):5'- CCAGAAGTCGTGTTAGACCAACTTTG -3'
(R):5'- TAACAAGCACAAGTTCCTTACAAAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation