Incidental Mutation 'R4172:Nop14'
| ID |
318168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop14
|
| Ensembl Gene |
ENSMUSG00000036693 |
| Gene Name |
NOP14 nucleolar protein |
| Synonyms |
Nol14, 2610033H07Rik |
| MMRRC Submission |
044391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4172 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34795880-34817492 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34807951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 337
(N337S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041364]
|
| AlphaFold |
Q8R3N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041364
AA Change: N337S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: N337S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop14
|
21 |
849 |
2.2e-273 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134467
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152393
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201897
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akip1 |
C |
T |
7: 109,306,716 (GRCm39) |
Q138* |
probably null |
Het |
| Cdc5l |
A |
G |
17: 45,730,698 (GRCm39) |
I196T |
probably damaging |
Het |
| Dnah7b |
G |
T |
1: 46,266,106 (GRCm39) |
R2225L |
probably damaging |
Het |
| Gfra2 |
C |
A |
14: 71,133,521 (GRCm39) |
T117K |
possibly damaging |
Het |
| Gle1 |
T |
C |
2: 29,828,538 (GRCm39) |
I120T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,715,572 (GRCm39) |
N52K |
possibly damaging |
Het |
| Helq |
T |
C |
5: 100,919,713 (GRCm39) |
K813E |
probably benign |
Het |
| Ighv7-4 |
A |
T |
12: 114,186,635 (GRCm39) |
F46I |
probably damaging |
Het |
| Il6st |
G |
A |
13: 112,631,861 (GRCm39) |
D467N |
probably benign |
Het |
| Jak1 |
C |
A |
4: 101,016,329 (GRCm39) |
V812L |
probably benign |
Het |
| Kank4 |
G |
T |
4: 98,667,358 (GRCm39) |
T363K |
probably damaging |
Het |
| Lcat |
C |
A |
8: 106,669,059 (GRCm39) |
W72L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,452,759 (GRCm39) |
S392P |
possibly damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,711,358 (GRCm39) |
F456L |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,247 (GRCm39) |
R709W |
probably damaging |
Het |
| Npbwr1 |
A |
G |
1: 5,987,155 (GRCm39) |
Y120H |
probably damaging |
Het |
| Or4c58 |
T |
G |
2: 89,675,122 (GRCm39) |
D65A |
probably damaging |
Het |
| Oxsm |
A |
T |
14: 16,242,079 (GRCm38) |
V230E |
probably damaging |
Het |
| Paox |
G |
A |
7: 139,713,941 (GRCm39) |
G234R |
probably damaging |
Het |
| Polq |
C |
T |
16: 36,881,120 (GRCm39) |
H1095Y |
probably benign |
Het |
| Rad51c |
T |
C |
11: 87,293,572 (GRCm39) |
T77A |
probably damaging |
Het |
| Ryr3 |
C |
A |
2: 112,624,815 (GRCm39) |
V2202F |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Snx27 |
T |
C |
3: 94,410,794 (GRCm39) |
H452R |
probably benign |
Het |
| Son |
C |
T |
16: 91,456,250 (GRCm39) |
H1666Y |
probably damaging |
Het |
| Spata25 |
C |
A |
2: 164,669,408 (GRCm39) |
W201L |
possibly damaging |
Het |
| Spint2 |
A |
G |
7: 28,963,097 (GRCm39) |
V67A |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,691,268 (GRCm39) |
Y322C |
probably benign |
Het |
| Synm |
T |
C |
7: 67,385,109 (GRCm39) |
Y409C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tpm1 |
T |
C |
9: 66,930,649 (GRCm39) |
N283D |
probably benign |
Het |
| Trpv6 |
T |
C |
6: 41,602,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,033,543 (GRCm39) |
D39G |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,777,103 (GRCm39) |
|
probably null |
Het |
| Vwa5a |
T |
C |
9: 38,635,166 (GRCm39) |
F224L |
probably damaging |
Het |
| Zfp445 |
T |
A |
9: 122,681,002 (GRCm39) |
M980L |
probably benign |
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 |
|
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 |
|
R6078:Nop14
|
UTSW |
5 |
34,815,295 (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'- TCTGGTCATCCTTTGGCAAC -3'
(R):5'- GCACTATGGGAGAGCTTCAG -3'
Sequencing Primer
(F):5'- AGGAGTCTGACGTTGCTCC -3'
(R):5'- CACTATGGGAGAGCTTCAGTTCCTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation