Incidental Mutation 'R6809:Nol4'
ID |
533728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nol4
|
Ensembl Gene |
ENSMUSG00000041923 |
Gene Name |
nucleolar protein 4 |
Synonyms |
1700013J13Rik, LOC383304, 4930568N03Rik |
MMRRC Submission |
044922-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.432)
|
Stock # |
R6809 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
22826238-23174710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 23053882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 96
(Q96L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081423]
[ENSMUST00000097651]
[ENSMUST00000164186]
[ENSMUST00000164893]
[ENSMUST00000165323]
|
AlphaFold |
P60954 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081423
AA Change: Q137L
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000080150 Gene: ENSMUSG00000041923 AA Change: Q137L
Domain | Start | End | E-Value | Type |
low complexity region
|
139 |
155 |
N/A |
INTRINSIC |
low complexity region
|
199 |
210 |
N/A |
INTRINSIC |
low complexity region
|
309 |
320 |
N/A |
INTRINSIC |
low complexity region
|
487 |
506 |
N/A |
INTRINSIC |
low complexity region
|
513 |
523 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097651
AA Change: Q210L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000095256 Gene: ENSMUSG00000041923 AA Change: Q210L
Domain | Start | End | E-Value | Type |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164186
AA Change: Q210L
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000130950 Gene: ENSMUSG00000041923 AA Change: Q210L
Domain | Start | End | E-Value | Type |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
low complexity region
|
560 |
579 |
N/A |
INTRINSIC |
low complexity region
|
586 |
596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164893
AA Change: Q210L
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127870 Gene: ENSMUSG00000041923 AA Change: Q210L
Domain | Start | End | E-Value | Type |
low complexity region
|
212 |
228 |
N/A |
INTRINSIC |
low complexity region
|
272 |
283 |
N/A |
INTRINSIC |
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
low complexity region
|
496 |
515 |
N/A |
INTRINSIC |
low complexity region
|
522 |
532 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165323
AA Change: Q96L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125860 Gene: ENSMUSG00000041923 AA Change: Q96L
Domain | Start | End | E-Value | Type |
low complexity region
|
95 |
108 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (51/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,229,619 (GRCm39) |
|
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,673,576 (GRCm39) |
D199G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
Gtdc1 |
G |
C |
2: 44,465,563 (GRCm39) |
S214* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,396 (GRCm39) |
F49S |
probably damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
Pard3b |
G |
A |
1: 62,200,340 (GRCm39) |
R293H |
probably damaging |
Het |
Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly damaging |
Het |
|
Other mutations in Nol4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00339:Nol4
|
APN |
18 |
22,956,469 (GRCm39) |
missense |
probably benign |
0.15 |
IGL00677:Nol4
|
APN |
18 |
23,054,924 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01153:Nol4
|
APN |
18 |
22,902,850 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01400:Nol4
|
APN |
18 |
22,956,555 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02006:Nol4
|
APN |
18 |
23,054,975 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02342:Nol4
|
APN |
18 |
22,903,926 (GRCm39) |
splice site |
probably benign |
|
IGL02501:Nol4
|
APN |
18 |
22,956,398 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Nol4
|
UTSW |
18 |
23,172,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R0096:Nol4
|
UTSW |
18 |
23,054,915 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0097:Nol4
|
UTSW |
18 |
22,852,198 (GRCm39) |
missense |
probably benign |
0.23 |
R0097:Nol4
|
UTSW |
18 |
22,852,198 (GRCm39) |
missense |
probably benign |
0.23 |
R1257:Nol4
|
UTSW |
18 |
22,903,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Nol4
|
UTSW |
18 |
22,902,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R2101:Nol4
|
UTSW |
18 |
22,956,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R2357:Nol4
|
UTSW |
18 |
23,172,967 (GRCm39) |
missense |
probably benign |
0.01 |
R2414:Nol4
|
UTSW |
18 |
22,956,629 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2427:Nol4
|
UTSW |
18 |
22,983,755 (GRCm39) |
intron |
probably benign |
|
R3713:Nol4
|
UTSW |
18 |
23,172,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R3734:Nol4
|
UTSW |
18 |
22,903,921 (GRCm39) |
splice site |
probably benign |
|
R3803:Nol4
|
UTSW |
18 |
22,828,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R4458:Nol4
|
UTSW |
18 |
22,885,052 (GRCm39) |
missense |
probably damaging |
0.99 |
R4736:Nol4
|
UTSW |
18 |
22,852,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R4774:Nol4
|
UTSW |
18 |
23,045,683 (GRCm39) |
missense |
probably damaging |
0.96 |
R4795:Nol4
|
UTSW |
18 |
23,054,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R5245:Nol4
|
UTSW |
18 |
22,828,179 (GRCm39) |
makesense |
probably null |
|
R5980:Nol4
|
UTSW |
18 |
23,085,258 (GRCm39) |
missense |
probably damaging |
0.97 |
R6372:Nol4
|
UTSW |
18 |
23,171,613 (GRCm39) |
critical splice donor site |
probably null |
|
R6485:Nol4
|
UTSW |
18 |
22,903,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6614:Nol4
|
UTSW |
18 |
23,053,913 (GRCm39) |
missense |
probably damaging |
1.00 |
R6877:Nol4
|
UTSW |
18 |
22,852,186 (GRCm39) |
missense |
probably benign |
0.06 |
R7269:Nol4
|
UTSW |
18 |
23,172,846 (GRCm39) |
missense |
probably benign |
|
R7310:Nol4
|
UTSW |
18 |
22,903,801 (GRCm39) |
missense |
|
|
R7720:Nol4
|
UTSW |
18 |
23,173,080 (GRCm39) |
missense |
probably benign |
0.16 |
R7753:Nol4
|
UTSW |
18 |
23,171,659 (GRCm39) |
start codon destroyed |
probably benign |
0.15 |
R7897:Nol4
|
UTSW |
18 |
22,956,400 (GRCm39) |
missense |
|
|
R7974:Nol4
|
UTSW |
18 |
22,852,082 (GRCm39) |
nonsense |
probably null |
|
R8297:Nol4
|
UTSW |
18 |
23,173,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R8303:Nol4
|
UTSW |
18 |
23,173,231 (GRCm39) |
unclassified |
probably benign |
|
R8466:Nol4
|
UTSW |
18 |
23,171,638 (GRCm39) |
missense |
probably benign |
0.03 |
R8985:Nol4
|
UTSW |
18 |
23,085,294 (GRCm39) |
missense |
probably damaging |
1.00 |
R9064:Nol4
|
UTSW |
18 |
22,903,850 (GRCm39) |
missense |
|
|
R9296:Nol4
|
UTSW |
18 |
22,956,388 (GRCm39) |
missense |
|
|
R9442:Nol4
|
UTSW |
18 |
22,902,899 (GRCm39) |
missense |
probably damaging |
1.00 |
R9456:Nol4
|
UTSW |
18 |
23,172,897 (GRCm39) |
missense |
probably benign |
0.41 |
R9469:Nol4
|
UTSW |
18 |
23,085,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R9478:Nol4
|
UTSW |
18 |
23,053,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Nol4
|
UTSW |
18 |
22,828,053 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Nol4
|
UTSW |
18 |
23,054,959 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Nol4
|
UTSW |
18 |
22,902,897 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCATAGCACTAAGGAAATGGATTCG -3'
(R):5'- ATACTGGCTCACCGTGAAAGTG -3'
Sequencing Primer
(F):5'- AATGGATTCGTGCAGGGACTC -3'
(R):5'- TCACCGTGAAAGTGCAGCTG -3'
|
Posted On |
2018-09-12 |