Incidental Mutation 'R4618:Nop14'
ID |
345083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nop14
|
Ensembl Gene |
ENSMUSG00000036693 |
Gene Name |
NOP14 nucleolar protein |
Synonyms |
Nol14, 2610033H07Rik |
MMRRC Submission |
041884-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R4618 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34795880-34817492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 34796562 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Glutamine
at position 765
(P765Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038382
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001109]
[ENSMUST00000041364]
[ENSMUST00000114329]
[ENSMUST00000114331]
[ENSMUST00000124668]
[ENSMUST00000126257]
[ENSMUST00000201147]
[ENSMUST00000134156]
[ENSMUST00000149657]
[ENSMUST00000155577]
[ENSMUST00000137150]
[ENSMUST00000137506]
[ENSMUST00000202378]
|
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 damaging
Transcript: ENSMUST00000041364
AA Change: P765Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038382 Gene: ENSMUSG00000036693 AA Change: P765Q
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 |
noncoding transcript
Transcript: ENSMUST00000128670
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138212
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200717
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151247
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136010
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148270
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130347
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201147
|
SMART Domains |
Protein: ENSMUSP00000144239 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
low complexity region
|
104 |
130 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134156
|
SMART Domains |
Protein: ENSMUSP00000143812 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
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: 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: ENSMUST00000137150
|
SMART Domains |
Protein: ENSMUSP00000120814 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
transmembrane domain
|
25 |
47 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137506
|
SMART Domains |
Protein: ENSMUSP00000144121 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
transmembrane domain
|
31 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201897
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202378
|
SMART Domains |
Protein: ENSMUSP00000144117 Gene: ENSMUSG00000001082
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
transmembrane domain
|
24 |
43 |
N/A |
INTRINSIC |
transmembrane domain
|
96 |
118 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202065
|
Meta Mutation Damage Score |
0.7039 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (89/91) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
A |
T |
3: 121,473,095 (GRCm39) |
K83N |
unknown |
Het |
Adamtsl3 |
T |
A |
7: 82,255,728 (GRCm39) |
M1580K |
probably benign |
Het |
Adprhl1 |
A |
G |
8: 13,292,250 (GRCm39) |
|
probably null |
Het |
Akap3 |
G |
T |
6: 126,843,406 (GRCm39) |
C675F |
probably benign |
Het |
Asap1 |
A |
T |
15: 64,024,744 (GRCm39) |
H318Q |
probably damaging |
Het |
Atf7ip |
G |
T |
6: 136,542,104 (GRCm39) |
A18S |
probably damaging |
Het |
Bcl2a1a |
A |
C |
9: 88,839,357 (GRCm39) |
N85T |
probably damaging |
Het |
Btnl6 |
G |
A |
17: 34,733,120 (GRCm39) |
P248S |
probably damaging |
Het |
C9 |
A |
G |
15: 6,520,944 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,526,865 (GRCm39) |
C257S |
probably benign |
Het |
Cd5l |
A |
G |
3: 87,275,926 (GRCm39) |
T299A |
probably benign |
Het |
Cstdc3 |
T |
A |
16: 36,132,952 (GRCm39) |
D76E |
possibly damaging |
Het |
Endou |
C |
T |
15: 97,611,763 (GRCm39) |
V292M |
possibly damaging |
Het |
Fbxo36 |
T |
C |
1: 84,877,749 (GRCm39) |
I137T |
probably damaging |
Het |
Fcer1a |
T |
C |
1: 173,050,208 (GRCm39) |
I161V |
possibly damaging |
Het |
Fsip2 |
A |
G |
2: 82,818,103 (GRCm39) |
Y4612C |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,111,670 (GRCm39) |
L353* |
probably null |
Het |
Ghrhr |
T |
C |
6: 55,358,739 (GRCm39) |
F172S |
probably damaging |
Het |
Gins1 |
T |
A |
2: 150,759,781 (GRCm39) |
|
probably null |
Het |
Gm16519 |
T |
G |
17: 71,236,237 (GRCm39) |
L62R |
probably damaging |
Het |
Gpr20 |
T |
C |
15: 73,567,585 (GRCm39) |
N268S |
probably benign |
Het |
Greb1l |
A |
G |
18: 10,498,965 (GRCm39) |
T283A |
probably benign |
Het |
Grin2c |
T |
A |
11: 115,143,573 (GRCm39) |
D729V |
probably damaging |
Het |
Heatr4 |
T |
G |
12: 84,024,841 (GRCm39) |
T327P |
probably damaging |
Het |
Hes2 |
A |
C |
4: 152,244,845 (GRCm39) |
S105R |
probably benign |
Het |
Hsph1 |
A |
G |
5: 149,542,308 (GRCm39) |
V705A |
probably benign |
Het |
Ighv1-82 |
T |
C |
12: 115,916,280 (GRCm39) |
T77A |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,651,788 (GRCm39) |
D851E |
probably benign |
Het |
Klhdc7b |
A |
G |
15: 89,271,472 (GRCm39) |
T785A |
probably benign |
Het |
Lmbr1 |
G |
T |
5: 29,551,863 (GRCm39) |
A74E |
probably damaging |
Het |
Lonp1 |
A |
C |
17: 56,929,511 (GRCm39) |
H175Q |
probably benign |
Het |
Maml2 |
T |
C |
9: 13,531,371 (GRCm39) |
F195S |
probably damaging |
Het |
Man2b2 |
G |
T |
5: 36,974,983 (GRCm39) |
T436K |
probably benign |
Het |
Man2c1 |
T |
C |
9: 57,049,439 (GRCm39) |
|
probably null |
Het |
Mrps15 |
G |
A |
4: 125,940,837 (GRCm39) |
|
probably benign |
Het |
Mtrf1l |
C |
A |
10: 5,767,586 (GRCm39) |
V177F |
probably benign |
Het |
Naxd |
A |
T |
8: 11,559,489 (GRCm39) |
I213F |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,267,890 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,047 (GRCm39) |
I318V |
probably damaging |
Het |
Nid2 |
T |
A |
14: 19,858,078 (GRCm39) |
I1297N |
probably damaging |
Het |
Nol10 |
T |
C |
12: 17,398,562 (GRCm39) |
V3A |
probably damaging |
Het |
Noxa1 |
C |
T |
2: 24,981,761 (GRCm39) |
G114D |
probably damaging |
Het |
Ntmt2 |
A |
T |
1: 163,552,597 (GRCm39) |
F10I |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,405,857 (GRCm39) |
W141R |
probably damaging |
Het |
Or10a2 |
G |
A |
7: 106,673,761 (GRCm39) |
C242Y |
probably damaging |
Het |
Or13p4 |
A |
T |
4: 118,546,667 (GRCm39) |
|
probably benign |
Het |
Or5d18 |
A |
G |
2: 87,864,898 (GRCm39) |
V195A |
probably benign |
Het |
Or8h10 |
A |
G |
2: 86,808,618 (GRCm39) |
I174T |
possibly damaging |
Het |
Pde4d |
A |
T |
13: 110,070,411 (GRCm39) |
M7L |
probably benign |
Het |
Phykpl |
G |
A |
11: 51,483,056 (GRCm39) |
A188T |
probably damaging |
Het |
Pkd2l1 |
C |
A |
19: 44,142,573 (GRCm39) |
A490S |
probably damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,403,078 (GRCm39) |
V2260D |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,395,765 (GRCm39) |
E1136G |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,833,420 (GRCm39) |
L353Q |
probably damaging |
Het |
Rfx4 |
G |
T |
10: 84,716,760 (GRCm39) |
A425S |
probably benign |
Het |
Rnf38 |
A |
G |
4: 44,142,450 (GRCm39) |
S169P |
probably damaging |
Het |
Samd9l |
C |
A |
6: 3,376,347 (GRCm39) |
V305F |
probably damaging |
Het |
Serpini1 |
A |
G |
3: 75,523,883 (GRCm39) |
K164E |
probably benign |
Het |
Sirt6 |
A |
G |
10: 81,462,408 (GRCm39) |
L37P |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,361,962 (GRCm39) |
T141A |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,227,946 (GRCm39) |
T1563S |
probably benign |
Het |
Tbc1d14 |
A |
C |
5: 36,687,725 (GRCm39) |
|
probably benign |
Het |
Tbrg4 |
G |
A |
11: 6,570,185 (GRCm39) |
|
probably benign |
Het |
Tox2 |
T |
C |
2: 163,162,567 (GRCm39) |
L479P |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,400,913 (GRCm39) |
L38Q |
probably benign |
Het |
Trhr |
A |
G |
15: 44,061,037 (GRCm39) |
N186D |
probably benign |
Het |
Trmt1l |
C |
T |
1: 151,329,799 (GRCm39) |
Q581* |
probably null |
Het |
Tsen54 |
T |
A |
11: 115,706,247 (GRCm39) |
|
probably benign |
Het |
Tsg101 |
A |
G |
7: 46,542,257 (GRCm39) |
I138T |
possibly damaging |
Het |
Usp22 |
A |
G |
11: 61,052,269 (GRCm39) |
S237P |
probably damaging |
Het |
Vmn1r209 |
A |
G |
13: 22,990,619 (GRCm39) |
S24P |
possibly damaging |
Het |
Vmn2r18 |
A |
T |
5: 151,508,424 (GRCm39) |
H233Q |
possibly damaging |
Het |
Vmn2r45 |
A |
T |
7: 8,486,436 (GRCm39) |
I284N |
probably benign |
Het |
Vmn2r66 |
T |
C |
7: 84,644,296 (GRCm39) |
I705V |
possibly damaging |
Het |
Vsig1 |
G |
T |
X: 139,827,135 (GRCm39) |
A95S |
probably benign |
Het |
Zdhhc11 |
T |
A |
13: 74,127,349 (GRCm39) |
M242K |
probably benign |
Het |
Zfp352 |
A |
G |
4: 90,113,318 (GRCm39) |
K486R |
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 |
R4172:Nop14
|
UTSW |
5 |
34,807,951 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TTTCCGTCCAAACTCAAGCC -3'
(R):5'- TTCCCTATATAGAGGATGGCAATG -3'
Sequencing Primer
(F):5'- GTCCAAACTCAAGCCTAAAGTTAG -3'
(R):5'- CAAGCTGCACCTGACACGG -3'
|
Posted On |
2015-09-25 |