Incidental Mutation 'IGL00933:Nol4l'
| ID |
26916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nol4l
|
| Ensembl Gene |
ENSMUSG00000061411 |
| Gene Name |
nucleolar protein 4-like |
| Synonyms |
8430427H17Rik, LOC381396 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.906)
|
| Stock # |
IGL00933
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
153249381-153371869 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 153319856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 175
(F175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036571
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035346]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035346
AA Change: F175S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: F175S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
71 |
N/A |
INTRINSIC |
|
low complexity region
|
277 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
619 |
639 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137553
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156786
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc3 |
T |
A |
13: 81,039,174 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,465,869 (GRCm39) |
S1878G |
probably benign |
Het |
| Cpa6 |
T |
C |
1: 10,407,595 (GRCm39) |
H314R |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,767,961 (GRCm39) |
I1114T |
probably benign |
Het |
| Eml3 |
G |
A |
19: 8,913,762 (GRCm39) |
W73* |
probably null |
Het |
| Fmo4 |
G |
T |
1: 162,621,592 (GRCm39) |
Q540K |
probably benign |
Het |
| Fstl4 |
G |
A |
11: 53,077,588 (GRCm39) |
G782R |
possibly damaging |
Het |
| Itga11 |
T |
C |
9: 62,676,587 (GRCm39) |
I925T |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,757,540 (GRCm39) |
F1411C |
probably damaging |
Het |
| Lmna |
A |
T |
3: 88,389,856 (GRCm39) |
C590S |
possibly damaging |
Het |
| Magi3 |
A |
G |
3: 103,923,163 (GRCm39) |
Y1185H |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,935,221 (GRCm39) |
Y1516H |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,871,874 (GRCm39) |
D2306G |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,257,317 (GRCm39) |
V742A |
probably damaging |
Het |
| Or9k2b |
A |
T |
10: 130,016,083 (GRCm39) |
M222K |
probably benign |
Het |
| Orm2 |
T |
C |
4: 63,282,389 (GRCm39) |
|
probably benign |
Het |
| Pik3cb |
T |
A |
9: 98,983,339 (GRCm39) |
T90S |
probably damaging |
Het |
| Plekhg2 |
G |
A |
7: 28,060,114 (GRCm39) |
P1072S |
probably benign |
Het |
| Rgr |
A |
T |
14: 36,760,875 (GRCm39) |
Y227* |
probably null |
Het |
| Snd1 |
T |
C |
6: 28,512,985 (GRCm39) |
|
probably null |
Het |
| Zfp560 |
A |
G |
9: 20,260,104 (GRCm39) |
S253P |
probably benign |
Het |
|
| Other mutations in Nol4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Nol4l
|
APN |
2 |
153,278,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL02608:Nol4l
|
APN |
2 |
153,278,213 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02886:Nol4l
|
APN |
2 |
153,371,457 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03210:Nol4l
|
APN |
2 |
153,371,378 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03055:Nol4l
|
UTSW |
2 |
153,278,190 (GRCm39) |
synonymous |
silent |
|
|
R0285:Nol4l
|
UTSW |
2 |
153,325,773 (GRCm39) |
splice site |
probably benign |
|
|
R0345:Nol4l
|
UTSW |
2 |
153,253,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0555:Nol4l
|
UTSW |
2 |
153,259,604 (GRCm39) |
splice site |
probably null |
|
|
R1966:Nol4l
|
UTSW |
2 |
153,371,375 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2044:Nol4l
|
UTSW |
2 |
153,371,441 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2368:Nol4l
|
UTSW |
2 |
153,259,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Nol4l
|
UTSW |
2 |
153,253,726 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5696:Nol4l
|
UTSW |
2 |
153,260,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5776:Nol4l
|
UTSW |
2 |
153,259,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Nol4l
|
UTSW |
2 |
153,325,746 (GRCm39) |
nonsense |
probably null |
|
|
R6845:Nol4l
|
UTSW |
2 |
153,258,582 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6872:Nol4l
|
UTSW |
2 |
153,325,737 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6940:Nol4l
|
UTSW |
2 |
153,253,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8165:Nol4l
|
UTSW |
2 |
153,262,473 (GRCm39) |
nonsense |
probably null |
|
|
R8263:Nol4l
|
UTSW |
2 |
153,259,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8500:Nol4l
|
UTSW |
2 |
153,278,266 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8938:Nol4l
|
UTSW |
2 |
153,262,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9097:Nol4l
|
UTSW |
2 |
153,312,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9098:Nol4l
|
UTSW |
2 |
153,312,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9099:Nol4l
|
UTSW |
2 |
153,312,630 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9115:Nol4l
|
UTSW |
2 |
153,253,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation