Incidental Mutation 'R6078:Nop14'
| ID |
482829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop14
|
| Ensembl Gene |
ENSMUSG00000036693 |
| Gene Name |
NOP14 nucleolar protein |
| Synonyms |
Nol14, 2610033H07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6078 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34795880-34817492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34815295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 85
(D85G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001112]
[ENSMUST00000041364]
[ENSMUST00000074651]
|
| AlphaFold |
Q8R3N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001112
|
| SMART Domains |
Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
171 |
1.61e-31 |
SMART |
|
S_TKc
|
186 |
448 |
7.78e-85 |
SMART |
|
S_TK_X
|
449 |
528 |
2.98e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041364
AA Change: D85G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: D85G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop14
|
21 |
849 |
2.2e-273 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074651
|
| SMART Domains |
Protein: ENSMUSP00000074223
Gene: ENSMUSG00000052783
| Domain | Start | End | E-Value | Type |
|---|
|
RGS
|
51 |
163 |
1.39e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148588
|
| SMART Domains |
Protein: ENSMUSP00000122826
Gene: ENSMUSG00000052783
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3NYO|B
|
2 |
80 |
2e-27 |
PDB |
|
SCOP:d1dk8a_
|
32 |
79 |
3e-5 |
SMART |
|
Blast:RGS
|
44 |
81 |
3e-18 |
BLAST |
|
| Meta Mutation Damage Score |
0.6835 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,585,301 (GRCm39) |
F801S |
probably damaging |
Het |
| Adam39 |
C |
T |
8: 41,277,630 (GRCm39) |
A7V |
probably benign |
Het |
| Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,117,924 (GRCm39) |
|
probably null |
Het |
| Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
| Cbfa2t3 |
T |
C |
8: 123,370,236 (GRCm39) |
H53R |
probably benign |
Het |
| Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Insm2 |
T |
C |
12: 55,646,799 (GRCm39) |
I181T |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
G |
4: 143,578,155 (GRCm39) |
H87Q |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
| Vmn1r29 |
T |
C |
6: 58,285,080 (GRCm39) |
F267L |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
| Zfp1 |
T |
C |
8: 112,396,975 (GRCm39) |
F299S |
probably damaging |
Het |
|
| Other mutations in Nop14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00566:Nop14
|
APN |
5 |
34,798,657 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00985:Nop14
|
APN |
5 |
34,802,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01626:Nop14
|
APN |
5 |
34,806,689 (GRCm39) |
nonsense |
probably null |
|
|
IGL02676:Nop14
|
APN |
5 |
34,796,565 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03189:Nop14
|
APN |
5 |
34,807,972 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03047:Nop14
|
UTSW |
5 |
34,817,358 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0025:Nop14
|
UTSW |
5 |
34,801,297 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0831:Nop14
|
UTSW |
5 |
34,807,864 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1027:Nop14
|
UTSW |
5 |
34,801,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1252:Nop14
|
UTSW |
5 |
34,807,899 (GRCm39) |
missense |
probably benign |
|
|
R1616:Nop14
|
UTSW |
5 |
34,807,757 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1845:Nop14
|
UTSW |
5 |
34,807,672 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2032:Nop14
|
UTSW |
5 |
34,817,283 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3693:Nop14
|
UTSW |
5 |
34,811,782 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4033:Nop14
|
UTSW |
5 |
34,807,861 (GRCm39) |
missense |
probably benign |
|
|
R4168:Nop14
|
UTSW |
5 |
34,814,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4172:Nop14
|
UTSW |
5 |
34,807,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4618:Nop14
|
UTSW |
5 |
34,796,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Nop14
|
UTSW |
5 |
34,809,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6067:Nop14
|
UTSW |
5 |
34,815,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Nop14
|
UTSW |
5 |
34,817,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6284:Nop14
|
UTSW |
5 |
34,798,835 (GRCm39) |
splice site |
probably null |
|
|
R7295:Nop14
|
UTSW |
5 |
34,796,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7585:Nop14
|
UTSW |
5 |
34,802,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Nop14
|
UTSW |
5 |
34,809,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7954:Nop14
|
UTSW |
5 |
34,807,729 (GRCm39) |
missense |
probably benign |
|
|
R8079:Nop14
|
UTSW |
5 |
34,811,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8428:Nop14
|
UTSW |
5 |
34,798,784 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8850:Nop14
|
UTSW |
5 |
34,817,352 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9173:Nop14
|
UTSW |
5 |
34,806,776 (GRCm39) |
missense |
probably damaging |
0.96 |
|
U15987:Nop14
|
UTSW |
5 |
34,815,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGACATATCCCCTGTACATGG -3'
(R):5'- TGCCACATGTACTGGTTATTAGC -3'
Sequencing Primer
(F):5'- TGTACATGGCAGGCAAACC -3'
(R):5'- TTAGCATTAAATAAAGTGGCAAACTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation