Incidental Mutation 'IGL01483:Noc4l'
| ID |
88677 |
| 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: 0.960)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110796285-110801248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110796824 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 486
(K486M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031478]
[ENSMUST00000042147]
|
| 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 damaging
Transcript: ENSMUST00000042147
AA Change: K486M
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294
AA Change: K486M
| 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: ENSMUST00000136629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145712
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199795
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110008E08Rik |
G |
T |
16: 90,351,201 (GRCm39) |
|
noncoding transcript |
Het |
| Abcb4 |
T |
C |
5: 8,977,871 (GRCm39) |
I483T |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,710,639 (GRCm39) |
H388L |
probably damaging |
Het |
| Arhgap24 |
T |
C |
5: 103,008,243 (GRCm39) |
Y52H |
possibly damaging |
Het |
| Atf7ip |
A |
G |
6: 136,564,457 (GRCm39) |
N900S |
probably damaging |
Het |
| Bmp10 |
A |
T |
6: 87,410,933 (GRCm39) |
D242V |
probably damaging |
Het |
| Ceacam12 |
A |
G |
7: 17,801,446 (GRCm39) |
R142G |
probably benign |
Het |
| Cilp2 |
T |
A |
8: 70,335,496 (GRCm39) |
I501F |
probably damaging |
Het |
| Cplane1 |
T |
G |
15: 8,216,591 (GRCm39) |
I603S |
probably damaging |
Het |
| Dglucy |
T |
C |
12: 100,819,476 (GRCm39) |
V426A |
probably damaging |
Het |
| Dyrk1b |
A |
G |
7: 27,882,101 (GRCm39) |
D94G |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,630,173 (GRCm39) |
V968A |
probably benign |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Fbxo7 |
T |
C |
10: 85,880,445 (GRCm39) |
Y298H |
probably damaging |
Het |
| Gcg |
T |
C |
2: 62,310,827 (GRCm39) |
D25G |
possibly damaging |
Het |
| Helb |
A |
G |
10: 119,947,043 (GRCm39) |
V90A |
probably damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,553 (GRCm39) |
E144D |
probably damaging |
Het |
| Lpo |
G |
A |
11: 87,711,964 (GRCm39) |
T31I |
probably benign |
Het |
| Mc5r |
A |
G |
18: 68,472,315 (GRCm39) |
I225V |
probably damaging |
Het |
| Mccc1 |
A |
G |
3: 36,044,009 (GRCm39) |
F245L |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,193,670 (GRCm39) |
D121G |
probably damaging |
Het |
| Nap1l4 |
A |
T |
7: 143,081,053 (GRCm39) |
|
probably null |
Het |
| Notum |
T |
C |
11: 120,547,482 (GRCm39) |
D271G |
probably damaging |
Het |
| Pan3 |
T |
A |
5: 147,466,783 (GRCm39) |
L550Q |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,661,465 (GRCm39) |
S594P |
probably damaging |
Het |
| Pramel12 |
A |
T |
4: 143,144,047 (GRCm39) |
E131V |
probably damaging |
Het |
| Prr23a1 |
T |
G |
9: 98,725,369 (GRCm39) |
S244A |
probably benign |
Het |
| Rarb |
T |
C |
14: 16,432,273 (GRCm38) |
|
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,022,103 (GRCm39) |
D511G |
probably benign |
Het |
| Slco6c1 |
T |
C |
1: 97,055,832 (GRCm39) |
N23S |
probably benign |
Het |
| Smarcc1 |
G |
T |
9: 110,051,128 (GRCm39) |
G983* |
probably null |
Het |
| Tbc1d22a |
A |
T |
15: 86,275,404 (GRCm39) |
Q442L |
probably benign |
Het |
| Tuba1b |
A |
G |
15: 98,830,338 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Zdhhc14 |
G |
A |
17: 5,762,733 (GRCm39) |
M212I |
probably benign |
Het |
|
| Other mutations in Noc4l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02249:Noc4l
|
APN |
5 |
110,801,081 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-11-18 |
Incidental Mutation