Incidental Mutation 'R3852:Nol6'
| ID |
275956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nol6
|
| Ensembl Gene |
ENSMUSG00000028430 |
| Gene Name |
nucleolar protein family 6 (RNA-associated) |
| Synonyms |
Nrap |
| MMRRC Submission |
040784-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R3852 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
41114427-41124450 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41117452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 914
(S914P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030138
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030138]
|
| AlphaFold |
Q8R5K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030138
AA Change: S914P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030138
Gene: ENSMUSG00000028430
AA Change: S914P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nrap
|
174 |
1145 |
5e-287 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155315
|
| Meta Mutation Damage Score |
0.5932 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of permeabilized cells indicates that the nucleolar localization is RNA dependent. Further studies suggest that the protein is associated with ribosome biogenesis through an interaction with pre-rRNA primary transcripts. Alternative splicing has been observed at this locus and two splice variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
T |
C |
16: 20,379,189 (GRCm39) |
V685A |
probably damaging |
Het |
| Abhd4 |
T |
C |
14: 54,502,824 (GRCm39) |
Y44H |
probably damaging |
Het |
| AI429214 |
A |
G |
8: 37,461,596 (GRCm39) |
D248G |
probably damaging |
Het |
| Aoc1l3 |
C |
T |
6: 48,964,928 (GRCm39) |
P312L |
possibly damaging |
Het |
| AY358078 |
A |
G |
14: 52,043,010 (GRCm39) |
T233A |
unknown |
Het |
| Calcr |
T |
C |
6: 3,693,735 (GRCm39) |
Y353C |
probably damaging |
Het |
| Ccdc34 |
A |
G |
2: 109,862,773 (GRCm39) |
K193E |
possibly damaging |
Het |
| Dhcr24 |
A |
G |
4: 106,431,070 (GRCm39) |
E253G |
probably benign |
Het |
| Dnah6 |
A |
G |
6: 73,104,910 (GRCm39) |
V1841A |
possibly damaging |
Het |
| Dpp10 |
A |
T |
1: 123,413,653 (GRCm39) |
Y186* |
probably null |
Het |
| Dpysl4 |
C |
T |
7: 138,680,851 (GRCm39) |
T575M |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,251,092 (GRCm39) |
S406T |
probably benign |
Het |
| Gga3 |
T |
A |
11: 115,478,368 (GRCm39) |
T475S |
probably benign |
Het |
| Gm10271 |
T |
A |
10: 116,792,779 (GRCm39) |
K36* |
probably null |
Het |
| Gm572 |
G |
A |
4: 148,753,329 (GRCm39) |
E325K |
possibly damaging |
Het |
| Golga2 |
A |
G |
2: 32,195,623 (GRCm39) |
E806G |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,751,181 (GRCm39) |
K126* |
probably null |
Het |
| Itpkc |
A |
T |
7: 26,927,037 (GRCm39) |
N292K |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,641 (GRCm39) |
M345K |
probably benign |
Het |
| Lrp2 |
A |
G |
2: 69,367,909 (GRCm39) |
V201A |
probably damaging |
Het |
| Lrrc8a |
C |
T |
2: 30,151,972 (GRCm39) |
T757M |
probably benign |
Het |
| Mios |
T |
A |
6: 8,216,453 (GRCm39) |
I459K |
probably benign |
Het |
| Mrps11 |
T |
C |
7: 78,440,393 (GRCm39) |
I94T |
probably damaging |
Het |
| Ms4a4c |
T |
A |
19: 11,393,759 (GRCm39) |
S68T |
probably benign |
Het |
| Mstn |
C |
T |
1: 53,101,130 (GRCm39) |
T69I |
possibly damaging |
Het |
| Myo10 |
A |
G |
15: 25,779,712 (GRCm39) |
K28E |
probably damaging |
Het |
| Ntn1 |
C |
G |
11: 68,276,619 (GRCm39) |
D110H |
probably damaging |
Het |
| Or51f1e |
T |
C |
7: 102,747,391 (GRCm39) |
S148P |
probably damaging |
Het |
| Or52b4 |
C |
A |
7: 102,184,487 (GRCm39) |
H178N |
probably benign |
Het |
| Pcdh17 |
C |
T |
14: 84,684,699 (GRCm39) |
Q389* |
probably null |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Prr14l |
T |
C |
5: 32,987,689 (GRCm39) |
E602G |
probably damaging |
Het |
| Rusc2 |
C |
A |
4: 43,416,424 (GRCm39) |
Q577K |
probably benign |
Het |
| Sacm1l |
T |
A |
9: 123,416,641 (GRCm39) |
M534K |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slco4a1 |
C |
T |
2: 180,105,884 (GRCm39) |
T22M |
probably benign |
Het |
| Tas2r104 |
A |
T |
6: 131,661,888 (GRCm39) |
C274S |
probably benign |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trim43c |
T |
A |
9: 88,722,454 (GRCm39) |
H33Q |
probably damaging |
Het |
| Ttc17 |
A |
T |
2: 94,199,758 (GRCm39) |
I411K |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,581,678 (GRCm39) |
L23072I |
possibly damaging |
Het |
| Ttn |
A |
C |
2: 76,785,368 (GRCm39) |
V669G |
possibly damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,026 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn2r9 |
A |
G |
5: 108,995,997 (GRCm39) |
I217T |
probably damaging |
Het |
|
| Other mutations in Nol6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00421:Nol6
|
APN |
4 |
41,123,374 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00787:Nol6
|
APN |
4 |
41,122,198 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01062:Nol6
|
APN |
4 |
41,118,205 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01113:Nol6
|
APN |
4 |
41,115,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01874:Nol6
|
APN |
4 |
41,115,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Nol6
|
APN |
4 |
41,118,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Nol6
|
APN |
4 |
41,117,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03082:Nol6
|
APN |
4 |
41,115,878 (GRCm39) |
splice site |
probably benign |
|
|
IGL03221:Nol6
|
APN |
4 |
41,124,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03332:Nol6
|
APN |
4 |
41,120,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
leaky
|
UTSW |
4 |
41,118,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0066:Nol6
|
UTSW |
4 |
41,119,572 (GRCm39) |
splice site |
probably benign |
|
|
R0066:Nol6
|
UTSW |
4 |
41,119,572 (GRCm39) |
splice site |
probably benign |
|
|
R0308:Nol6
|
UTSW |
4 |
41,123,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0632:Nol6
|
UTSW |
4 |
41,121,115 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1222:Nol6
|
UTSW |
4 |
41,120,760 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1471:Nol6
|
UTSW |
4 |
41,120,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1481:Nol6
|
UTSW |
4 |
41,123,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1971:Nol6
|
UTSW |
4 |
41,119,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Nol6
|
UTSW |
4 |
41,118,720 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Nol6
|
UTSW |
4 |
41,118,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3923:Nol6
|
UTSW |
4 |
41,121,531 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4458:Nol6
|
UTSW |
4 |
41,115,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Nol6
|
UTSW |
4 |
41,123,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Nol6
|
UTSW |
4 |
41,123,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Nol6
|
UTSW |
4 |
41,120,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4637:Nol6
|
UTSW |
4 |
41,121,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4700:Nol6
|
UTSW |
4 |
41,118,944 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4820:Nol6
|
UTSW |
4 |
41,121,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4975:Nol6
|
UTSW |
4 |
41,120,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5395:Nol6
|
UTSW |
4 |
41,118,392 (GRCm39) |
intron |
probably benign |
|
|
R5826:Nol6
|
UTSW |
4 |
41,122,158 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6531:Nol6
|
UTSW |
4 |
41,118,154 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6943:Nol6
|
UTSW |
4 |
41,118,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Nol6
|
UTSW |
4 |
41,121,279 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7035:Nol6
|
UTSW |
4 |
41,118,479 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7282:Nol6
|
UTSW |
4 |
41,119,468 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7327:Nol6
|
UTSW |
4 |
41,116,686 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7402:Nol6
|
UTSW |
4 |
41,118,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Nol6
|
UTSW |
4 |
41,117,424 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7505:Nol6
|
UTSW |
4 |
41,120,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7669:Nol6
|
UTSW |
4 |
41,118,717 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8255:Nol6
|
UTSW |
4 |
41,120,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8401:Nol6
|
UTSW |
4 |
41,119,548 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8426:Nol6
|
UTSW |
4 |
41,119,870 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8826:Nol6
|
UTSW |
4 |
41,121,823 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9228:Nol6
|
UTSW |
4 |
41,116,422 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9259:Nol6
|
UTSW |
4 |
41,118,229 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9571:Nol6
|
UTSW |
4 |
41,120,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9604:Nol6
|
UTSW |
4 |
41,120,298 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9748:Nol6
|
UTSW |
4 |
41,123,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCTTAGACATCTGGGATCTAGG -3'
(R):5'- TTCACCCCTCCCAGGTAATG -3'
Sequencing Primer
(F):5'- AGACATCTGGGATCTAGGAGGCTTC -3'
(R):5'- CGCTCGGGAAGTTGCTCTAAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation