Incidental Mutation 'R5740:Ncbp3'
| ID |
444755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp3
|
| Ensembl Gene |
ENSMUSG00000020783 |
| Gene Name |
nuclear cap binding subunit 3 |
| Synonyms |
1200014J11Rik |
| MMRRC Submission |
043196-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
R5740 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
72937443-72974405 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 72944323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 108
(N108K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021135
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021135]
|
| AlphaFold |
Q8BZR9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021135
AA Change: N108K
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000021135
Gene: ENSMUSG00000020783
AA Change: N108K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144262
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151823
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921513I03Rik |
G |
A |
10: 120,614,413 (GRCm39) |
|
probably benign |
Het |
| Arrdc5 |
T |
A |
17: 56,604,838 (GRCm39) |
N150Y |
probably benign |
Het |
| Bag1 |
T |
C |
4: 40,941,526 (GRCm39) |
Q269R |
probably null |
Het |
| C7 |
T |
C |
15: 5,086,522 (GRCm39) |
N40D |
probably benign |
Het |
| Ccnt1 |
T |
C |
15: 98,442,381 (GRCm39) |
I296V |
probably benign |
Het |
| Col19a1 |
C |
T |
1: 24,376,996 (GRCm39) |
G450S |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,082,178 (GRCm39) |
T509A |
probably benign |
Het |
| Fgg |
A |
T |
3: 82,918,832 (GRCm39) |
T282S |
probably benign |
Het |
| Fzd7 |
A |
G |
1: 59,522,839 (GRCm39) |
M241V |
probably benign |
Het |
| Gja1 |
G |
A |
10: 56,264,285 (GRCm39) |
V215M |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,362 (GRCm39) |
L2567P |
probably damaging |
Het |
| Grik2 |
T |
C |
10: 48,989,573 (GRCm39) |
N819D |
probably damaging |
Het |
| Grik4 |
C |
T |
9: 42,719,863 (GRCm39) |
R3H |
possibly damaging |
Het |
| Hecw2 |
T |
C |
1: 53,926,762 (GRCm39) |
Y1079C |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,220 (GRCm39) |
E512G |
possibly damaging |
Het |
| Ino80 |
T |
C |
2: 119,261,510 (GRCm39) |
D718G |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,239,824 (GRCm39) |
K73E |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,235,649 (GRCm39) |
I918V |
probably damaging |
Het |
| M1ap |
T |
C |
6: 82,958,903 (GRCm39) |
V178A |
probably damaging |
Het |
| Mcub |
A |
T |
3: 129,712,374 (GRCm39) |
M167K |
probably benign |
Het |
| Mgat4c |
A |
T |
10: 102,225,182 (GRCm39) |
K465N |
possibly damaging |
Het |
| Naip1 |
T |
A |
13: 100,569,009 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
T |
11: 97,126,894 (GRCm39) |
D455E |
possibly damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,926 (GRCm39) |
M256V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,144,033 (GRCm39) |
G128S |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,551,664 (GRCm39) |
I489N |
possibly damaging |
Het |
| Sdccag8 |
A |
G |
1: 176,658,716 (GRCm39) |
T134A |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,399 (GRCm39) |
E596G |
probably benign |
Het |
| Shank1 |
T |
C |
7: 44,003,164 (GRCm39) |
S1619P |
possibly damaging |
Het |
| Slc46a3 |
A |
T |
5: 147,816,643 (GRCm39) |
C387* |
probably null |
Het |
| Slc5a5 |
G |
T |
8: 71,341,561 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,721,718 (GRCm39) |
|
probably benign |
Het |
| Vangl1 |
T |
C |
3: 102,091,450 (GRCm39) |
D212G |
probably damaging |
Het |
| Vmn1r52 |
T |
A |
6: 90,156,176 (GRCm39) |
I160N |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,900,103 (GRCm39) |
M600I |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,614,654 (GRCm39) |
I387V |
probably benign |
Het |
| Zfp369 |
A |
G |
13: 65,444,581 (GRCm39) |
R575G |
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 |
|
|
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 |
|
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'- TGCAAAACACATTCAAGGTTGC -3'
(R):5'- AGCTCTAACCGAGAACTATCTGAC -3'
Sequencing Primer
(F):5'- ACACATTCAAGGTTGCTTATTGTG -3'
(R):5'- GAGAACTATCTGACAGCGTCTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation