Incidental Mutation 'R9670:Ncbp3'
| ID |
728006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncbp3
|
| Ensembl Gene |
ENSMUSG00000020783 |
| Gene Name |
nuclear cap binding subunit 3 |
| Synonyms |
1200014J11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.227)
|
| Stock # |
R9670 (G1)
|
| Quality Score |
225.009 |
|
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
G |
3: 137,770,894 (GRCm39) |
T28A |
probably benign |
Het |
| Adam15 |
T |
C |
3: 89,253,270 (GRCm39) |
I220V |
probably benign |
Het |
| Atf7ip2 |
T |
A |
16: 10,058,512 (GRCm39) |
V317E |
probably benign |
Het |
| Bin3 |
T |
G |
14: 70,367,009 (GRCm39) |
|
probably null |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Brd2 |
T |
C |
17: 34,334,205 (GRCm39) |
T286A |
possibly damaging |
Het |
| Cers6 |
A |
G |
2: 68,833,114 (GRCm39) |
Y144C |
probably benign |
Het |
| Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
| Dguok |
T |
A |
6: 83,463,999 (GRCm39) |
L186F |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,148,926 (GRCm39) |
N1468S |
probably null |
Het |
| Eral1 |
T |
C |
11: 77,965,410 (GRCm39) |
H335R |
|
Het |
| Gm3248 |
A |
T |
14: 5,944,993 (GRCm38) |
I63K |
probably benign |
Het |
| Gm3415 |
A |
C |
5: 146,493,376 (GRCm39) |
I74L |
probably benign |
Het |
| Kdm5b |
A |
T |
1: 134,558,240 (GRCm39) |
R1416* |
probably null |
Het |
| Lrit2 |
T |
A |
14: 36,790,115 (GRCm39) |
C28* |
probably null |
Het |
| Mctp1 |
A |
T |
13: 76,532,840 (GRCm39) |
T63S |
probably benign |
Het |
| Nlrp4b |
A |
G |
7: 10,448,651 (GRCm39) |
I285V |
probably benign |
Het |
| Nup85 |
C |
T |
11: 115,457,471 (GRCm39) |
R58W |
probably benign |
Het |
| Pcnx4 |
T |
C |
12: 72,613,792 (GRCm39) |
V579A |
probably benign |
Het |
| Pde10a |
T |
C |
17: 9,020,272 (GRCm39) |
S70P |
unknown |
Het |
| Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
| Ppp3cb |
C |
A |
14: 20,578,314 (GRCm39) |
L145F |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,326,618 (GRCm39) |
K357R |
probably benign |
Het |
| Prkcb |
G |
T |
7: 122,233,070 (GRCm39) |
E656* |
probably null |
Het |
| Prrc2b |
C |
A |
2: 32,103,199 (GRCm39) |
H892Q |
probably benign |
Het |
| Pxk |
T |
C |
14: 8,140,748 (GRCm38) |
|
probably null |
Het |
| Ruvbl1 |
T |
C |
6: 88,444,558 (GRCm39) |
V51A |
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,560,845 (GRCm39) |
R2972L |
probably benign |
Het |
| Sec14l1 |
A |
G |
11: 117,046,058 (GRCm39) |
I542V |
possibly damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
C |
A |
1: 131,681,688 (GRCm39) |
A167E |
probably benign |
Het |
| Tarbp1 |
A |
T |
8: 127,183,262 (GRCm39) |
L519Q |
probably null |
Het |
| Trak2 |
G |
A |
1: 58,985,463 (GRCm39) |
R12* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,360,768 (GRCm39) |
I2163V |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,531,098 (GRCm39) |
N64Y |
|
Het |
| Wdfy4 |
T |
C |
14: 32,769,219 (GRCm39) |
Y2236C |
|
Het |
| Zfp316 |
A |
T |
5: 143,240,348 (GRCm39) |
V557E |
possibly 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 |
|
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 |
|
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'- CTGCAAAACACATTCAAGGTTGC -3'
(R):5'- GCTCTAACCGAGAACTATCTGAC -3'
Sequencing Primer
(F):5'- ACACATTCAAGGTTGCTTATTGTG -3'
(R):5'- GAGAACTATCTGACAGCGTCTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation