Incidental Mutation 'R6626:Ncbp3'
ID |
524819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncbp3
|
Ensembl Gene |
ENSMUSG00000020783 |
Gene Name |
nuclear cap binding subunit 3 |
Synonyms |
1200014J11Rik |
MMRRC Submission |
044748-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.227)
|
Stock # |
R6626 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
72937443-72974405 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72964210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 387
(S387T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021135]
|
AlphaFold |
Q8BZR9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021135
AA Change: S387T
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000021135 Gene: ENSMUSG00000020783 AA Change: S387T
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
27 |
N/A |
INTRINSIC |
low complexity region
|
33 |
52 |
N/A |
INTRINSIC |
Pfam:DUF2414
|
123 |
177 |
4.5e-24 |
PFAM |
low complexity region
|
191 |
231 |
N/A |
INTRINSIC |
coiled coil region
|
345 |
364 |
N/A |
INTRINSIC |
low complexity region
|
379 |
403 |
N/A |
INTRINSIC |
low complexity region
|
581 |
592 |
N/A |
INTRINSIC |
low complexity region
|
602 |
615 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930556J24Rik |
T |
C |
11: 3,888,056 (GRCm39) |
H110R |
unknown |
Het |
Adgrv1 |
T |
A |
13: 81,666,245 (GRCm39) |
D1937V |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,465,207 (GRCm39) |
L19H |
probably damaging |
Het |
Bcl9 |
C |
T |
3: 97,122,712 (GRCm39) |
R29H |
probably benign |
Het |
Boc |
A |
T |
16: 44,340,803 (GRCm39) |
I49N |
possibly damaging |
Het |
C8a |
T |
C |
4: 104,703,164 (GRCm39) |
I298V |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,022,703 (GRCm39) |
S879P |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,786,143 (GRCm39) |
|
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,230,892 (GRCm39) |
I63T |
probably damaging |
Het |
Flnb |
C |
T |
14: 7,929,012 (GRCm38) |
R1914C |
probably damaging |
Het |
Gm9493 |
A |
T |
19: 23,597,209 (GRCm39) |
K35M |
possibly damaging |
Het |
Gpld1 |
T |
C |
13: 25,163,953 (GRCm39) |
S552P |
probably damaging |
Het |
Hacd1 |
T |
A |
2: 14,031,755 (GRCm39) |
I243F |
probably benign |
Het |
Klhdc4 |
A |
G |
8: 122,546,901 (GRCm39) |
V110A |
probably benign |
Het |
Krt26 |
C |
T |
11: 99,220,528 (GRCm39) |
V441M |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Nav2 |
A |
G |
7: 49,244,100 (GRCm39) |
Y2109C |
probably damaging |
Het |
Notch2 |
T |
G |
3: 98,008,921 (GRCm39) |
V513G |
probably damaging |
Het |
Nt5c1b |
A |
T |
12: 10,424,837 (GRCm39) |
R128* |
probably null |
Het |
Olig2 |
T |
C |
16: 91,024,044 (GRCm39) |
S253P |
unknown |
Het |
Or6b1 |
A |
G |
6: 42,815,582 (GRCm39) |
M256V |
probably benign |
Het |
Or8g17 |
A |
G |
9: 38,930,402 (GRCm39) |
V145A |
possibly damaging |
Het |
Or8k53 |
C |
T |
2: 86,177,364 (GRCm39) |
V249I |
possibly damaging |
Het |
Phkb |
T |
A |
8: 86,648,780 (GRCm39) |
F199I |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,665,381 (GRCm39) |
T178A |
possibly damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Sfxn2 |
A |
T |
19: 46,570,967 (GRCm39) |
N9I |
possibly damaging |
Het |
Slc16a4 |
G |
A |
3: 107,208,512 (GRCm39) |
A341T |
possibly damaging |
Het |
Spata31h1 |
A |
G |
10: 82,128,667 (GRCm39) |
F1448L |
probably benign |
Het |
Tank |
T |
A |
2: 61,480,640 (GRCm39) |
|
probably benign |
Het |
Tnr |
A |
T |
1: 159,677,822 (GRCm39) |
Y69F |
probably damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,038,284 (GRCm39) |
D1518G |
probably damaging |
Het |
Txndc16 |
T |
C |
14: 45,398,792 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
G |
11: 21,281,028 (GRCm39) |
Y227H |
probably damaging |
Het |
Vps50 |
G |
A |
6: 3,551,101 (GRCm39) |
W388* |
probably null |
Het |
Zfp516 |
T |
A |
18: 83,006,232 (GRCm39) |
D1045E |
probably damaging |
Het |
Zscan10 |
C |
T |
17: 23,824,831 (GRCm39) |
P96S |
probably damaging |
Het |
|
Other mutations in Ncbp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Ncbp3
|
APN |
11 |
72,964,355 (GRCm39) |
splice site |
probably benign |
|
R0180:Ncbp3
|
UTSW |
11 |
72,955,804 (GRCm39) |
splice site |
probably null |
|
R0464:Ncbp3
|
UTSW |
11 |
72,960,647 (GRCm39) |
splice site |
probably benign |
|
R0620:Ncbp3
|
UTSW |
11 |
72,940,671 (GRCm39) |
splice site |
probably benign |
|
R2024:Ncbp3
|
UTSW |
11 |
72,944,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2121:Ncbp3
|
UTSW |
11 |
72,944,304 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4610:Ncbp3
|
UTSW |
11 |
72,969,844 (GRCm39) |
missense |
probably damaging |
0.98 |
R4693:Ncbp3
|
UTSW |
11 |
72,966,503 (GRCm39) |
missense |
probably benign |
0.00 |
R4883:Ncbp3
|
UTSW |
11 |
72,960,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R4974:Ncbp3
|
UTSW |
11 |
72,944,355 (GRCm39) |
critical splice donor site |
probably null |
|
R5212:Ncbp3
|
UTSW |
11 |
72,944,373 (GRCm39) |
intron |
probably benign |
|
R5740:Ncbp3
|
UTSW |
11 |
72,944,323 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5906:Ncbp3
|
UTSW |
11 |
72,964,327 (GRCm39) |
missense |
probably benign |
0.04 |
R6026:Ncbp3
|
UTSW |
11 |
72,958,548 (GRCm39) |
missense |
probably benign |
0.00 |
R6154:Ncbp3
|
UTSW |
11 |
72,940,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R6403:Ncbp3
|
UTSW |
11 |
72,969,802 (GRCm39) |
missense |
probably benign |
0.00 |
R6838:Ncbp3
|
UTSW |
11 |
72,964,300 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7155:Ncbp3
|
UTSW |
11 |
72,938,835 (GRCm39) |
missense |
probably damaging |
0.99 |
R7369:Ncbp3
|
UTSW |
11 |
72,968,747 (GRCm39) |
missense |
probably benign |
0.00 |
R7587:Ncbp3
|
UTSW |
11 |
72,957,591 (GRCm39) |
splice site |
probably null |
|
R7657:Ncbp3
|
UTSW |
11 |
72,964,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R8774:Ncbp3
|
UTSW |
11 |
72,938,808 (GRCm39) |
missense |
probably benign |
|
R8774-TAIL:Ncbp3
|
UTSW |
11 |
72,938,808 (GRCm39) |
missense |
probably benign |
|
R9063:Ncbp3
|
UTSW |
11 |
72,964,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R9478:Ncbp3
|
UTSW |
11 |
72,968,768 (GRCm39) |
missense |
probably damaging |
0.99 |
R9513:Ncbp3
|
UTSW |
11 |
72,938,727 (GRCm39) |
start codon destroyed |
probably null |
0.95 |
R9670:Ncbp3
|
UTSW |
11 |
72,944,323 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9762:Ncbp3
|
UTSW |
11 |
72,961,668 (GRCm39) |
missense |
probably benign |
0.35 |
Y5379:Ncbp3
|
UTSW |
11 |
72,964,086 (GRCm39) |
small deletion |
probably benign |
|
Z1177:Ncbp3
|
UTSW |
11 |
72,938,794 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCATCCTTTCCTTCTACCAATGGAG -3'
(R):5'- CTGGGCTCAATCCTCAGTATTGAC -3'
Sequencing Primer
(F):5'- CTTTCCTTCTACCAATGGAGAGTAG -3'
(R):5'- AGCACATTTAAAGTTAACACGGAC -3'
|
Posted On |
2018-06-22 |