Incidental Mutation 'IGL02249:Noc4l'
| ID |
286329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Noc4l
|
| Ensembl Gene |
ENSMUSG00000033294 |
| Gene Name |
NOC4 like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
IGL02249
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110796285-110801248 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 110801081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031478]
[ENSMUST00000042147]
[ENSMUST00000148773]
|
| AlphaFold |
Q8BHY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031478
|
| SMART Domains |
Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
75 |
N/A |
INTRINSIC |
|
DEXDc
|
189 |
442 |
4.04e-40 |
SMART |
|
HELICc
|
491 |
573 |
2.86e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042147
|
| SMART Domains |
Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CBF
|
305 |
453 |
2.7e-43 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123380
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199795
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148773
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700019A02Rik |
T |
A |
1: 53,224,431 (GRCm39) |
K23* |
probably null |
Het |
| Abca1 |
A |
T |
4: 53,068,739 (GRCm39) |
L1333* |
probably null |
Het |
| Adcy6 |
C |
A |
15: 98,497,795 (GRCm39) |
M452I |
probably damaging |
Het |
| Adsl |
G |
A |
15: 80,844,676 (GRCm39) |
R173H |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,718,200 (GRCm39) |
T484A |
probably damaging |
Het |
| Apol10a |
A |
G |
15: 77,372,709 (GRCm39) |
D115G |
probably damaging |
Het |
| Bard1 |
A |
G |
1: 71,092,828 (GRCm39) |
S529P |
probably damaging |
Het |
| C2 |
A |
G |
17: 35,083,484 (GRCm39) |
|
probably benign |
Het |
| Cftr |
T |
A |
6: 18,277,870 (GRCm39) |
I956N |
possibly damaging |
Het |
| Cwc15 |
A |
G |
9: 14,414,977 (GRCm39) |
T110A |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,594,361 (GRCm39) |
I497F |
possibly damaging |
Het |
| Gadd45b |
A |
G |
10: 80,766,967 (GRCm39) |
D69G |
possibly damaging |
Het |
| Glb1l3 |
A |
T |
9: 26,742,564 (GRCm39) |
S307R |
possibly damaging |
Het |
| Greb1l |
G |
A |
18: 10,532,961 (GRCm39) |
G843R |
probably damaging |
Het |
| H2-M11 |
A |
T |
17: 36,858,829 (GRCm39) |
Y123F |
probably benign |
Het |
| Hal |
G |
A |
10: 93,333,400 (GRCm39) |
A323T |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,166,396 (GRCm39) |
F47L |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,367 (GRCm39) |
N96Y |
probably benign |
Het |
| Maco1 |
T |
C |
4: 134,555,623 (GRCm39) |
I283M |
possibly damaging |
Het |
| Mki67 |
T |
A |
7: 135,302,251 (GRCm39) |
M928L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,930,847 (GRCm39) |
V607D |
probably damaging |
Het |
| Ndufaf2 |
A |
G |
13: 108,217,925 (GRCm39) |
W74R |
probably damaging |
Het |
| Or51b6b |
T |
A |
7: 103,309,573 (GRCm39) |
I295F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,307,772 (GRCm39) |
W274R |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,171,962 (GRCm39) |
V83I |
probably damaging |
Het |
| Prmt5 |
C |
T |
14: 54,747,322 (GRCm39) |
R485H |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,418,220 (GRCm39) |
Y1719H |
probably damaging |
Het |
| Ranbp2 |
A |
T |
10: 58,315,900 (GRCm39) |
I2207F |
possibly damaging |
Het |
| Rock2 |
T |
A |
12: 17,021,042 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,867,961 (GRCm39) |
R124H |
probably damaging |
Het |
| Serpina1e |
G |
A |
12: 103,917,393 (GRCm39) |
T92M |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,768,667 (GRCm39) |
L83P |
probably benign |
Het |
| Tm9sf2 |
C |
T |
14: 122,361,162 (GRCm39) |
S68L |
probably damaging |
Het |
| Tmem178 |
A |
G |
17: 81,297,235 (GRCm39) |
T206A |
probably damaging |
Het |
| Tmem207 |
A |
T |
16: 26,336,617 (GRCm39) |
Y46N |
possibly damaging |
Het |
| Tyk2 |
A |
G |
9: 21,031,703 (GRCm39) |
L429P |
probably damaging |
Het |
|
| Other mutations in Noc4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Noc4l
|
APN |
5 |
110,796,824 (GRCm39) |
missense |
probably damaging |
0.99 |
|
wood
|
UTSW |
5 |
110,796,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
PIT4280001:Noc4l
|
UTSW |
5 |
110,799,305 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0326:Noc4l
|
UTSW |
5 |
110,800,241 (GRCm39) |
nonsense |
probably null |
|
|
R0544:Noc4l
|
UTSW |
5 |
110,798,989 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1196:Noc4l
|
UTSW |
5 |
110,798,450 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1496:Noc4l
|
UTSW |
5 |
110,797,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1587:Noc4l
|
UTSW |
5 |
110,800,889 (GRCm39) |
missense |
probably benign |
|
|
R1699:Noc4l
|
UTSW |
5 |
110,797,713 (GRCm39) |
nonsense |
probably null |
|
|
R2113:Noc4l
|
UTSW |
5 |
110,798,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2874:Noc4l
|
UTSW |
5 |
110,796,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4080:Noc4l
|
UTSW |
5 |
110,797,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5097:Noc4l
|
UTSW |
5 |
110,799,212 (GRCm39) |
missense |
probably benign |
|
|
R5875:Noc4l
|
UTSW |
5 |
110,799,176 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6903:Noc4l
|
UTSW |
5 |
110,797,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Noc4l
|
UTSW |
5 |
110,796,789 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7816:Noc4l
|
UTSW |
5 |
110,797,539 (GRCm39) |
missense |
probably benign |
0.44 |
|
R8379:Noc4l
|
UTSW |
5 |
110,798,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Noc4l
|
UTSW |
5 |
110,796,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-04-16 |
Incidental Mutation