Incidental Mutation 'IGL00324:Esd'
| ID |
4156 |
| 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: 0.212)
|
| Stock # |
IGL00324
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
74969737-74988205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74973467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 21
(H21Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022573]
[ENSMUST00000175712]
[ENSMUST00000175887]
[ENSMUST00000176957]
[ENSMUST00000177137]
[ENSMUST00000177283]
[ENSMUST00000177181]
|
| AlphaFold |
Q9R0P3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022573
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: H21Y
| 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 damaging
Transcript: ENSMUST00000175712
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: H21Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
131 |
4.5e-30 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175887
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: H21Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
242 |
1.3e-57 |
PFAM |
|
Pfam:Chlorophyllase2
|
29 |
186 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176726
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176957
AA Change: H34Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: H34Y
| 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 damaging
Transcript: ENSMUST00000177137
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: H21Y
| 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 damaging
Transcript: ENSMUST00000177283
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: H21Y
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177181
AA Change: H21Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: H21Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000177445
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
C |
3: 121,570,642 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,214 (GRCm39) |
L1156Q |
unknown |
Het |
| Ctsl |
T |
C |
13: 64,515,982 (GRCm39) |
Y66C |
probably damaging |
Het |
| Fcrlb |
A |
C |
1: 170,736,393 (GRCm39) |
Y128D |
possibly damaging |
Het |
| Gm17027 |
A |
T |
14: 41,981,267 (GRCm39) |
N196K |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Hpcal1 |
A |
G |
12: 17,841,146 (GRCm39) |
S175G |
probably benign |
Het |
| Itgam |
A |
T |
7: 127,684,833 (GRCm39) |
D401V |
probably damaging |
Het |
| Kank1 |
A |
G |
19: 25,389,122 (GRCm39) |
T932A |
probably benign |
Het |
| Lmod1 |
A |
G |
1: 135,292,216 (GRCm39) |
K357R |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,599,186 (GRCm39) |
I3271V |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,248,107 (GRCm39) |
K1692E |
probably damaging |
Het |
| Ocln |
A |
G |
13: 100,671,521 (GRCm39) |
W279R |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,254,130 (GRCm39) |
I80V |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,206 (GRCm39) |
K677R |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,618,702 (GRCm39) |
L586Q |
probably damaging |
Het |
| Plppr3 |
G |
A |
10: 79,702,503 (GRCm39) |
S217L |
probably damaging |
Het |
| Pnldc1 |
A |
T |
17: 13,124,645 (GRCm39) |
|
probably benign |
Het |
| Pramel12 |
T |
A |
4: 143,143,237 (GRCm39) |
M1K |
probably null |
Het |
| Pramel13 |
A |
G |
4: 144,121,310 (GRCm39) |
L238P |
possibly damaging |
Het |
| Sema6b |
C |
T |
17: 56,437,048 (GRCm39) |
D204N |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,839,041 (GRCm39) |
N1063S |
probably damaging |
Het |
| Tg |
T |
C |
15: 66,565,273 (GRCm39) |
V1205A |
probably benign |
Het |
| Tmem260 |
T |
C |
14: 48,724,336 (GRCm39) |
F205L |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,956,337 (GRCm39) |
|
probably benign |
Het |
| Tsen34 |
A |
G |
7: 3,703,530 (GRCm39) |
*296W |
probably null |
Het |
| Ubr2 |
A |
G |
17: 47,296,986 (GRCm39) |
|
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,706,684 (GRCm39) |
W505R |
possibly damaging |
Het |
| Wbp11 |
A |
G |
6: 136,798,668 (GRCm39) |
|
probably benign |
Het |
| Znfx1 |
A |
T |
2: 166,878,649 (GRCm39) |
M1909K |
possibly damaging |
Het |
|
| Other mutations in Esd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00534:Esd
|
APN |
14 |
74,975,901 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00904:Esd
|
APN |
14 |
74,987,128 (GRCm39) |
makesense |
probably null |
|
|
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 |
2012-04-20 |
Incidental Mutation