Incidental Mutation 'R6403:Ncbp3'
| ID |
516225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp3
|
| Ensembl Gene |
ENSMUSG00000020783 |
| Gene Name |
nuclear cap binding subunit 3 |
| Synonyms |
1200014J11Rik |
| MMRRC Submission |
044382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R6403 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72937443-72974405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72969802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 550
(T550A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021135]
|
| AlphaFold |
Q8BZR9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021135
AA Change: T550A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021135
Gene: ENSMUSG00000020783
AA Change: T550A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,768,881 (GRCm39) |
D227G |
possibly damaging |
Het |
| Aox1 |
A |
G |
1: 58,107,594 (GRCm39) |
I623V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,538 (GRCm39) |
R317* |
probably null |
Het |
| Carmil1 |
G |
A |
13: 24,265,950 (GRCm39) |
R271C |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,562,901 (GRCm39) |
L323* |
probably null |
Het |
| Copb1 |
T |
A |
7: 113,837,686 (GRCm39) |
I286F |
probably damaging |
Het |
| Dnajb11 |
T |
A |
16: 22,689,691 (GRCm39) |
V285D |
probably damaging |
Het |
| Dok5 |
G |
T |
2: 170,671,820 (GRCm39) |
A79S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,727,160 (GRCm39) |
N557S |
probably damaging |
Het |
| Hexa |
G |
A |
9: 59,464,644 (GRCm39) |
R178H |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,840,971 (GRCm39) |
S35P |
probably damaging |
Het |
| Il3ra |
G |
T |
14: 14,347,137 (GRCm38) |
A3S |
probably damaging |
Het |
| Iqcm |
T |
C |
8: 76,304,624 (GRCm39) |
|
probably null |
Het |
| Krt9 |
G |
T |
11: 100,080,485 (GRCm39) |
S420R |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,975,045 (GRCm39) |
N293S |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,647,269 (GRCm39) |
I235T |
possibly damaging |
Het |
| Nckipsd |
G |
T |
9: 108,688,882 (GRCm39) |
R139L |
possibly damaging |
Het |
| Nxn |
A |
G |
11: 76,289,846 (GRCm39) |
V14A |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,538 (GRCm39) |
L22P |
probably damaging |
Het |
| Pramel22 |
G |
A |
4: 143,382,343 (GRCm39) |
Q118* |
probably null |
Het |
| Rprd2 |
C |
A |
3: 95,673,399 (GRCm39) |
C668F |
possibly damaging |
Het |
| Tmem87a |
A |
T |
2: 120,211,252 (GRCm39) |
M231K |
possibly damaging |
Het |
| Trappc8 |
A |
G |
18: 20,999,128 (GRCm39) |
V333A |
probably benign |
Het |
| Trit1 |
C |
A |
4: 122,933,372 (GRCm39) |
T103K |
possibly damaging |
Het |
| Tspan13 |
A |
G |
12: 36,065,704 (GRCm39) |
F203S |
probably damaging |
Het |
| Vmn2r114 |
C |
T |
17: 23,528,939 (GRCm39) |
D388N |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,683,015 (GRCm39) |
A55V |
probably benign |
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 |
|
R6626:Ncbp3
|
UTSW |
11 |
72,964,210 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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'- ACTTACAGACTGGCACCAAG -3'
(R):5'- ATGTCAGATTTAAGGGCAGTTGC -3'
Sequencing Primer
(F):5'- AAGCACCTCTCCCGATGTTTC -3'
(R):5'- TGAACCAGAGCTACTTTCCCGG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation