Incidental Mutation 'IGL01483:Notum'
| ID |
88702 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Notum
|
| Ensembl Gene |
ENSMUSG00000042988 |
| Gene Name |
notum palmitoleoyl-protein carboxylesterase |
| Synonyms |
5730593N15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.852)
|
| Stock # |
IGL01483
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120544614-120552001 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120547482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 271
(D271G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106177]
[ENSMUST00000106178]
[ENSMUST00000150458]
|
| AlphaFold |
Q8R116 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000055439
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106177
AA Change: D271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101783
Gene: ENSMUSG00000042988
AA Change: D271G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Pfam:PAE
|
78 |
431 |
6.2e-97 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106178
AA Change: D271G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101784
Gene: ENSMUSG00000042988
AA Change: D271G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Pfam:PAE
|
88 |
426 |
4.6e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126642
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150458
|
| SMART Domains |
Protein: ENSMUSP00000122788
Gene: ENSMUSG00000042988
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
44 |
N/A |
INTRINSIC |
|
Pfam:PAE
|
78 |
215 |
1.2e-44 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151998
|
| 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 |
| Noc4l |
T |
A |
5: 110,796,824 (GRCm39) |
K486M |
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 Notum |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0265:Notum
|
UTSW |
11 |
120,549,160 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0383:Notum
|
UTSW |
11 |
120,545,282 (GRCm39) |
missense |
probably benign |
|
|
R1268:Notum
|
UTSW |
11 |
120,549,493 (GRCm39) |
nonsense |
probably null |
|
|
R1311:Notum
|
UTSW |
11 |
120,546,575 (GRCm39) |
unclassified |
probably benign |
|
|
R2249:Notum
|
UTSW |
11 |
120,545,237 (GRCm39) |
missense |
probably benign |
|
|
R2869:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2869:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2871:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2871:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2872:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2872:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R2873:Notum
|
UTSW |
11 |
120,551,022 (GRCm39) |
missense |
probably benign |
|
|
R5617:Notum
|
UTSW |
11 |
120,547,171 (GRCm39) |
nonsense |
probably null |
|
|
R6298:Notum
|
UTSW |
11 |
120,548,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Notum
|
UTSW |
11 |
120,545,627 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8998:Notum
|
UTSW |
11 |
120,545,207 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8999:Notum
|
UTSW |
11 |
120,545,207 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9261:Notum
|
UTSW |
11 |
120,550,974 (GRCm39) |
missense |
|
|
|
R9616:Notum
|
UTSW |
11 |
120,550,974 (GRCm39) |
missense |
|
|
|
R9642:Notum
|
UTSW |
11 |
120,550,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9714:Notum
|
UTSW |
11 |
120,551,019 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-11-18 |
Incidental Mutation