Incidental Mutation 'R6793:Ncbp1'
| ID |
532684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp1
|
| Ensembl Gene |
ENSMUSG00000028330 |
| Gene Name |
nuclear cap binding protein subunit 1 |
| Synonyms |
|
| MMRRC Submission |
044906-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
46138613-46172403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46157827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 355
(I355T)
|
| 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: I355T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030014
Gene: ENSMUSG00000028330
AA Change: I355T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,052 (GRCm39) |
N19K |
possibly damaging |
Het |
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Abraxas2 |
T |
C |
7: 132,476,563 (GRCm39) |
I98T |
probably damaging |
Het |
| Ankrd17 |
G |
A |
5: 90,413,371 (GRCm39) |
T1181I |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,991,814 (GRCm39) |
K1313* |
probably null |
Het |
| Chst4 |
A |
T |
8: 110,756,699 (GRCm39) |
V388D |
probably damaging |
Het |
| Ckap5 |
T |
G |
2: 91,399,054 (GRCm39) |
W613G |
probably damaging |
Het |
| Clock |
GACTCACT |
GACT |
5: 76,384,967 (GRCm39) |
|
probably null |
Het |
| Enpp1 |
T |
C |
10: 24,531,723 (GRCm39) |
D520G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,593,818 (GRCm39) |
N90S |
probably benign |
Het |
| Esp36 |
A |
T |
17: 38,728,005 (GRCm39) |
M92K |
unknown |
Het |
| Fam135a |
A |
G |
1: 24,107,006 (GRCm39) |
V44A |
possibly damaging |
Het |
| Fndc8 |
T |
C |
11: 82,788,412 (GRCm39) |
S81P |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gabrr1 |
T |
G |
4: 33,162,712 (GRCm39) |
V426G |
possibly damaging |
Het |
| Igkv6-15 |
T |
A |
6: 70,383,976 (GRCm39) |
M1L |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,185,065 (GRCm39) |
E614G |
probably damaging |
Het |
| Man1a2 |
A |
T |
3: 100,539,913 (GRCm39) |
I176K |
possibly damaging |
Het |
| Mapk4 |
T |
A |
18: 74,063,539 (GRCm39) |
N561I |
probably damaging |
Het |
| Med15 |
A |
T |
16: 17,470,567 (GRCm39) |
|
probably benign |
Het |
| Mfsd2a |
A |
G |
4: 122,844,498 (GRCm39) |
V258A |
probably benign |
Het |
| Micu3 |
G |
A |
8: 40,833,736 (GRCm39) |
V457I |
probably damaging |
Het |
| Mov10l1 |
T |
A |
15: 88,880,387 (GRCm39) |
V291E |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,935 (GRCm39) |
V37A |
probably benign |
Het |
| Or52ad1 |
T |
C |
7: 102,995,473 (GRCm39) |
T221A |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,355,278 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,466,971 (GRCm39) |
S1666P |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,155,234 (GRCm39) |
V651E |
probably damaging |
Het |
| Pomt1 |
T |
C |
2: 32,132,961 (GRCm39) |
F186L |
probably damaging |
Het |
| Prl3d3 |
G |
A |
13: 27,345,044 (GRCm39) |
A140T |
probably benign |
Het |
| Ptprn |
G |
A |
1: 75,234,786 (GRCm39) |
T267I |
probably benign |
Het |
| Qrfprl |
C |
T |
6: 65,358,405 (GRCm39) |
A43V |
probably benign |
Het |
| Rhbdd2 |
T |
A |
5: 135,665,008 (GRCm39) |
I113N |
probably damaging |
Het |
| Saraf |
T |
A |
8: 34,635,767 (GRCm39) |
|
probably null |
Het |
| Slc41a2 |
T |
C |
10: 83,137,022 (GRCm39) |
|
probably null |
Het |
| Slc47a1 |
A |
G |
11: 61,250,229 (GRCm39) |
V352A |
probably benign |
Het |
| Tmem237 |
T |
C |
1: 59,153,375 (GRCm39) |
T49A |
probably benign |
Het |
| Tmem273 |
A |
C |
14: 32,528,778 (GRCm39) |
I48L |
probably benign |
Het |
| Tmprss11e |
C |
T |
5: 86,863,414 (GRCm39) |
C217Y |
probably damaging |
Het |
| Ubfd1 |
T |
C |
7: 121,667,103 (GRCm39) |
V140A |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,516,669 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
A |
10: 12,574,844 (GRCm39) |
I1028F |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,539,968 (GRCm39) |
T1479M |
probably damaging |
Het |
| Vwa7 |
G |
T |
17: 35,243,867 (GRCm39) |
R767L |
probably benign |
Het |
| Wdfy3 |
A |
T |
5: 102,065,297 (GRCm39) |
Y1290* |
probably null |
Het |
| Zfp970 |
G |
A |
2: 177,167,338 (GRCm39) |
C304Y |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAGGTCACAGCAGCCTG -3'
(R):5'- GGTGAACCTGAGAGCCTGAG -3'
Sequencing Primer
(F):5'- CTCTAGCAGACTCTTGGTGTAGAAAG -3'
(R):5'- AGCCAAAGCAGGTACACT -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation