Incidental Mutation 'IGL03047:Nop14'
ID |
392226 |
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 # |
IGL03047 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34795880-34817492 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34817358 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 11
(R11K)
|
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 |
possibly damaging
Transcript: ENSMUST00000041364
AA Change: R11K
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038382 Gene: ENSMUSG00000036693 AA Change: R11K
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 |
0.0734 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
98% (41/42) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
A |
7: 12,246,568 (GRCm39) |
H21Q |
possibly damaging |
Het |
4933427D14Rik |
A |
G |
11: 72,057,552 (GRCm39) |
I749T |
possibly damaging |
Het |
Adam22 |
A |
G |
5: 8,132,220 (GRCm39) |
S869P |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,231,022 (GRCm39) |
T566A |
probably benign |
Het |
Asic3 |
A |
C |
5: 24,618,788 (GRCm39) |
M27L |
probably benign |
Het |
Atp2c1 |
T |
A |
9: 105,398,206 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
T |
10: 75,535,934 (GRCm39) |
|
probably benign |
Het |
Ccr7 |
C |
T |
11: 99,036,160 (GRCm39) |
R254H |
probably benign |
Het |
Cdk2ap1 |
G |
T |
5: 124,486,753 (GRCm39) |
A63E |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,498,646 (GRCm39) |
T14A |
possibly damaging |
Het |
Cldn11 |
T |
A |
3: 31,217,256 (GRCm39) |
F141L |
probably damaging |
Het |
Comp |
G |
T |
8: 70,827,559 (GRCm39) |
A107S |
possibly damaging |
Het |
Cyp2b23 |
A |
T |
7: 26,380,892 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
T |
G |
19: 39,722,904 (GRCm39) |
I215L |
probably benign |
Het |
Cyp4f17 |
T |
A |
17: 32,743,023 (GRCm39) |
I232K |
possibly damaging |
Het |
Dram2 |
T |
G |
3: 106,480,345 (GRCm39) |
F219L |
probably damaging |
Het |
Fam186a |
G |
A |
15: 99,843,589 (GRCm39) |
A885V |
unknown |
Het |
Fbxo42 |
A |
G |
4: 140,926,853 (GRCm39) |
T378A |
possibly damaging |
Het |
Frmpd1 |
T |
A |
4: 45,283,993 (GRCm39) |
V938E |
probably damaging |
Het |
Gramd1c |
C |
A |
16: 43,808,610 (GRCm39) |
L489F |
probably damaging |
Het |
Il17ra |
T |
C |
6: 120,458,187 (GRCm39) |
I446T |
probably damaging |
Het |
Il36g |
G |
A |
2: 24,082,719 (GRCm39) |
A165T |
probably damaging |
Het |
Kcne4 |
G |
T |
1: 78,795,495 (GRCm39) |
V48F |
possibly damaging |
Het |
Ly6g6c |
T |
A |
17: 35,288,325 (GRCm39) |
|
probably null |
Het |
Mars2 |
A |
G |
1: 55,278,032 (GRCm39) |
Y545C |
probably benign |
Het |
Mmp12 |
T |
G |
9: 7,357,797 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
A |
10: 3,930,409 (GRCm39) |
|
probably benign |
Het |
Npas3 |
T |
A |
12: 53,878,470 (GRCm39) |
|
probably benign |
Het |
Odf2 |
A |
T |
2: 29,810,907 (GRCm39) |
|
probably benign |
Het |
Or2y1d |
A |
G |
11: 49,321,794 (GRCm39) |
M164V |
probably benign |
Het |
Or5p73 |
T |
C |
7: 108,064,983 (GRCm39) |
S151P |
probably damaging |
Het |
Or5w16 |
A |
G |
2: 87,577,338 (GRCm39) |
Y266C |
possibly damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,613 (GRCm39) |
I79T |
possibly damaging |
Het |
Otud7b |
T |
C |
3: 96,058,301 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
T |
C |
2: 160,596,799 (GRCm39) |
Y747H |
probably damaging |
Het |
Runx1t1 |
G |
A |
4: 13,865,882 (GRCm39) |
V357I |
probably damaging |
Het |
Seh1l |
C |
G |
18: 67,922,520 (GRCm39) |
T291R |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sulf2 |
G |
T |
2: 165,922,814 (GRCm39) |
|
probably null |
Het |
Tent4a |
C |
A |
13: 69,651,030 (GRCm39) |
D369Y |
probably damaging |
Het |
Tex14 |
C |
T |
11: 87,427,530 (GRCm39) |
S1174F |
probably damaging |
Het |
Tm9sf4 |
A |
G |
2: 153,003,326 (GRCm39) |
|
probably benign |
Het |
Vmn2r7 |
G |
A |
3: 64,614,639 (GRCm39) |
H392Y |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,308,793 (GRCm39) |
V673D |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCATAGTACGCAGAAC -3'
(R):5'- TAGTGTCATCCAGGACTTGTG -3'
Sequencing Primer
(F):5'- AGAACCTGGGTAGAGCCTATCC -3'
(R):5'- TGTACTTCTCGCGAAATACGG -3'
|
Posted On |
2016-06-09 |