Incidental Mutation 'IGL00566:Nop14'
| ID |
12762 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00566
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34795880-34817492 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 34798657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001109]
[ENSMUST00000041364]
[ENSMUST00000114329]
[ENSMUST00000114331]
[ENSMUST00000124668]
[ENSMUST00000126257]
[ENSMUST00000137150]
[ENSMUST00000155577]
[ENSMUST00000149657]
|
| AlphaFold |
Q8R3N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001109
|
| SMART Domains |
Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
413 |
6.9e-41 |
PFAM |
|
Pfam:Sugar_tr
|
62 |
235 |
7.9e-9 |
PFAM |
|
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041364
|
| SMART Domains |
Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop14
|
21 |
849 |
2.2e-273 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114329
|
| SMART Domains |
Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
413 |
6.8e-41 |
PFAM |
|
Pfam:Sugar_tr
|
71 |
228 |
2.3e-9 |
PFAM |
|
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114331
|
| SMART Domains |
Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
413 |
6.8e-41 |
PFAM |
|
Pfam:Sugar_tr
|
71 |
228 |
2.3e-9 |
PFAM |
|
transmembrane domain
|
422 |
444 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124668
|
| SMART Domains |
Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126257
|
| SMART Domains |
Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
139 |
5.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137150
|
| SMART Domains |
Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138212
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155577
|
| SMART Domains |
Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
269 |
1.1e-27 |
PFAM |
|
Pfam:Sugar_tr
|
71 |
228 |
9.6e-10 |
PFAM |
|
Pfam:TRI12
|
76 |
232 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149657
|
| SMART Domains |
Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
29 |
261 |
1.3e-26 |
PFAM |
|
Pfam:Sugar_tr
|
71 |
228 |
9.3e-10 |
PFAM |
|
Pfam:TRI12
|
76 |
232 |
3.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201897
|
| Coding Region Coverage |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,815 (GRCm39) |
T173A |
possibly damaging |
Het |
| Acaa2 |
G |
A |
18: 74,926,449 (GRCm39) |
G135E |
probably damaging |
Het |
| Actr2 |
C |
A |
11: 20,022,487 (GRCm39) |
R328L |
possibly damaging |
Het |
| Adam1b |
T |
C |
5: 121,639,056 (GRCm39) |
D663G |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,379,483 (GRCm39) |
E915V |
probably benign |
Het |
| Antxr2 |
G |
A |
5: 98,034,466 (GRCm39) |
|
probably benign |
Het |
| Ckap5 |
T |
A |
2: 91,398,972 (GRCm39) |
|
probably benign |
Het |
| Clec4g |
T |
C |
8: 3,766,410 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
A |
G |
17: 25,202,925 (GRCm39) |
V368A |
probably benign |
Het |
| Diaph3 |
C |
T |
14: 87,240,307 (GRCm39) |
R248K |
probably benign |
Het |
| Fut10 |
T |
C |
8: 31,725,712 (GRCm39) |
Y156H |
probably damaging |
Het |
| Ice2 |
T |
C |
9: 69,323,395 (GRCm39) |
V630A |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,467,174 (GRCm39) |
V179D |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,962,653 (GRCm39) |
E15A |
probably damaging |
Het |
| Kifbp |
G |
T |
10: 62,395,118 (GRCm39) |
S508* |
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,581,670 (GRCm39) |
L333Q |
probably damaging |
Het |
| Lrguk |
A |
C |
6: 34,033,109 (GRCm39) |
L258F |
probably damaging |
Het |
| M6pr |
A |
T |
6: 122,290,337 (GRCm39) |
K100M |
probably damaging |
Het |
| Pcdh20 |
A |
G |
14: 88,705,317 (GRCm39) |
V661A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,837,098 (GRCm39) |
H2815Q |
probably benign |
Het |
|
| Other mutations in Nop14 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation