Incidental Mutation 'IGL00904:Esd'
| ID |
28929 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Esd
|
| Ensembl Gene |
ENSMUSG00000021996 |
| Gene Name |
esterase D/formylglutathione hydrolase |
| Synonyms |
Es10, Esd, Es-10 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
IGL00904
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
74969737-74988205 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 74987128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 266
(*266W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022573]
[ENSMUST00000088970]
[ENSMUST00000175712]
[ENSMUST00000175887]
[ENSMUST00000176957]
[ENSMUST00000177137]
[ENSMUST00000177181]
[ENSMUST00000177283]
|
| AlphaFold |
Q9R0P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022573
AA Change: D271G
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: D271G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
275 |
8.1e-74 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
184 |
2.7e-8 |
PFAM |
|
Pfam:Esterase_phd
|
30 |
231 |
1e-7 |
PFAM |
|
Pfam:Abhydrolase_5
|
48 |
261 |
4.6e-9 |
PFAM |
|
Pfam:Peptidase_S9
|
102 |
282 |
2.2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088970
|
| SMART Domains |
Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
44 |
N/A |
INTRINSIC |
|
LRR
|
109 |
131 |
1.86e1 |
SMART |
|
LRR_TYP
|
132 |
155 |
3.39e-3 |
SMART |
|
LRR
|
177 |
199 |
1.41e1 |
SMART |
|
LRR
|
200 |
223 |
4.34e-1 |
SMART |
|
LRR
|
245 |
268 |
1.66e1 |
SMART |
|
low complexity region
|
306 |
322 |
N/A |
INTRINSIC |
|
CH
|
591 |
698 |
1.71e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175712
|
| SMART Domains |
Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
131 |
4.5e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175887
AA Change: D238G
PolyPhen 2
Score 0.417 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: D238G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
242 |
1.3e-57 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
186 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000176726
AA Change: D93G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176957
AA Change: D284G
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: D284G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AXE1
|
26 |
198 |
1e-7 |
PFAM |
|
Pfam:Esterase
|
36 |
288 |
6.6e-74 |
PFAM |
|
Pfam:Abhydrolase_5
|
61 |
274 |
7.1e-9 |
PFAM |
|
Pfam:Peptidase_S9
|
116 |
295 |
2.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177137
|
| SMART Domains |
Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
259 |
1.4e-68 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
184 |
2.2e-8 |
PFAM |
|
Pfam:Esterase_phd
|
30 |
231 |
7.9e-8 |
PFAM |
|
Pfam:Abhydrolase_5
|
48 |
247 |
5.3e-9 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000177181
AA Change: *266W
|
| SMART Domains |
Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: *266W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
261 |
2e-68 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
184 |
2.3e-8 |
PFAM |
|
Pfam:Esterase_phd
|
30 |
231 |
8.4e-8 |
PFAM |
|
Pfam:Abhydrolase_5
|
48 |
248 |
5.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177283
|
| SMART Domains |
Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AXE1
|
16 |
185 |
1.1e-7 |
PFAM |
|
Pfam:Esterase
|
23 |
247 |
1e-67 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
184 |
1.9e-8 |
PFAM |
|
Pfam:Esterase_phd
|
30 |
231 |
2.5e-8 |
PFAM |
|
Pfam:Abhydrolase_5
|
48 |
239 |
5.9e-9 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,923,135 (GRCm39) |
G236C |
probably damaging |
Het |
| Abi1 |
C |
T |
2: 22,831,942 (GRCm39) |
R404Q |
possibly damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,364,598 (GRCm39) |
G532R |
probably damaging |
Het |
| Bysl |
C |
T |
17: 47,912,796 (GRCm39) |
M331I |
probably benign |
Het |
| Ccdc121rt3 |
G |
A |
5: 112,502,994 (GRCm39) |
R237* |
probably null |
Het |
| Cndp1 |
A |
G |
18: 84,629,790 (GRCm39) |
S468P |
probably benign |
Het |
| F5 |
T |
C |
1: 164,021,578 (GRCm39) |
V1351A |
probably benign |
Het |
| Fchsd2 |
A |
G |
7: 100,920,829 (GRCm39) |
D454G |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,975,195 (GRCm39) |
M1415L |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,602 (GRCm39) |
Y222F |
probably benign |
Het |
| Gtf3c2 |
C |
T |
5: 31,330,202 (GRCm39) |
S299N |
probably damaging |
Het |
| Ice1 |
C |
T |
13: 70,750,408 (GRCm39) |
D93N |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,328,276 (GRCm39) |
|
probably null |
Het |
| Kif18a |
A |
G |
2: 109,122,471 (GRCm39) |
D182G |
probably damaging |
Het |
| Mcm9 |
A |
T |
10: 53,499,017 (GRCm39) |
H308Q |
possibly damaging |
Het |
| Mesp2 |
A |
G |
7: 79,462,401 (GRCm39) |
D319G |
probably benign |
Het |
| Mrpl55 |
T |
A |
11: 59,096,499 (GRCm39) |
S84T |
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,950,374 (GRCm39) |
V123A |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,406,944 (GRCm39) |
|
probably benign |
Het |
| Nfia |
C |
T |
4: 97,953,623 (GRCm39) |
P325S |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,794,535 (GRCm39) |
|
probably null |
Het |
| Npepps |
A |
C |
11: 97,149,132 (GRCm39) |
V130G |
probably damaging |
Het |
| Or7c70 |
A |
T |
10: 78,683,597 (GRCm39) |
S51T |
probably damaging |
Het |
| Pja2 |
G |
T |
17: 64,590,526 (GRCm39) |
T669K |
probably damaging |
Het |
| Rnf112 |
G |
T |
11: 61,343,610 (GRCm39) |
D98E |
probably damaging |
Het |
| Rsl1d1 |
G |
A |
16: 11,017,558 (GRCm39) |
T136I |
probably damaging |
Het |
| Samsn1 |
A |
T |
16: 75,706,008 (GRCm39) |
|
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,721,814 (GRCm39) |
L280P |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,097,398 (GRCm39) |
N1382D |
probably benign |
Het |
| Vmn2r100 |
T |
G |
17: 19,746,262 (GRCm39) |
C474G |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,606,788 (GRCm39) |
R186H |
probably benign |
Het |
| Wdr7 |
T |
C |
18: 63,929,302 (GRCm39) |
I1046T |
probably benign |
Het |
|
| Other mutations in Esd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Esd
|
APN |
14 |
74,973,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00534:Esd
|
APN |
14 |
74,975,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01645:Esd
|
APN |
14 |
74,987,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03117:Esd
|
APN |
14 |
74,978,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0766:Esd
|
UTSW |
14 |
74,979,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0939:Esd
|
UTSW |
14 |
74,973,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Esd
|
UTSW |
14 |
74,979,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1892:Esd
|
UTSW |
14 |
74,987,113 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3922:Esd
|
UTSW |
14 |
74,980,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4580:Esd
|
UTSW |
14 |
74,979,517 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4830:Esd
|
UTSW |
14 |
74,978,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4969:Esd
|
UTSW |
14 |
74,982,153 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5211:Esd
|
UTSW |
14 |
74,978,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Esd
|
UTSW |
14 |
74,979,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5810:Esd
|
UTSW |
14 |
74,983,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7024:Esd
|
UTSW |
14 |
74,982,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7759:Esd
|
UTSW |
14 |
74,983,007 (GRCm39) |
nonsense |
probably null |
|
|
R8673:Esd
|
UTSW |
14 |
74,969,952 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9001:Esd
|
UTSW |
14 |
74,983,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation