Incidental Mutation 'R0939:Esd'
| ID | 81331 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Esd
|
|---|
| Ensembl Gene |
ENSMUSG00000021996 |
|---|
| Gene Name | esterase D/formylglutathione hydrolase |
|---|
| Synonyms | Es10, Es-10, Esd |
|---|
| MMRRC Submission |
039078-MU
|
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| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly non essential (E-score: 0.269)
|
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| Stock # | R0939 (G1)
|
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| Quality Score | 225 |
|---|
| Status |
Not validated
|
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| Chromosome | 14 |
|---|
| Chromosomal Location | 74732297-74750765 bp(+) (GRCm38) |
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| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to A
at 74736027 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Histidine to Asparagine
at position 21
(H21N)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000135063
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022573]
[ENSMUST00000175712]
[ENSMUST00000175887]
[ENSMUST00000176957]
[ENSMUST00000177137]
[ENSMUST00000177181]
[ENSMUST00000177283]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022573
AA Change: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: H21N
| 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: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: H21N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
131 |
4.5e-30 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175887
AA Change: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: H21N
| 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
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176484
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000176726
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176957
AA Change: H34N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: H34N
| 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: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: H21N
| 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: ENSMUST00000177181
AA Change: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: H21N
| 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 damaging
Transcript: ENSMUST00000177283
AA Change: H21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: H21N
| 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 |
noncoding transcript
Transcript: ENSMUST00000177445
|
|---|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
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| Validation Efficiency |
|
|---|
| Allele List at MGI | |
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| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
C |
T |
11: 120,012,143 |
V419M |
probably damaging |
Het |
| Cdcp1 |
A |
G |
9: 123,183,690 |
V264A |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,305,730 |
D326G |
probably null |
Het |
| Dach1 |
A |
G |
14: 97,915,924 |
V436A |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 118,060,407 |
G1870S |
probably damaging |
Het |
| Dst |
C |
A |
1: 34,244,383 |
H5324N |
probably damaging |
Het |
| Eapp |
TTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTT |
12: 54,685,949 |
|
probably benign |
Het |
| Gnmt |
A |
G |
17: 46,726,345 |
L171P |
probably damaging |
Het |
| Igdcc4 |
T |
A |
9: 65,131,473 |
|
probably null |
Het |
| Mug1 |
A |
T |
6: 121,884,349 |
I1310F |
possibly damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,506,887 |
K834R |
probably benign |
Het |
| Olfr1013 |
T |
A |
2: 85,770,653 |
L284* |
probably null |
Het |
| Olfr1564 |
T |
C |
17: 33,215,661 |
K231E |
possibly damaging |
Het |
| Olfr516 |
T |
A |
7: 108,845,233 |
Y259F |
probably damaging |
Het |
| Pcdh17 |
A |
G |
14: 84,447,755 |
D554G |
probably damaging |
Het |
| Plcxd3 |
T |
A |
15: 4,516,862 |
L116* |
probably null |
Het |
| Prss1 |
A |
C |
6: 41,463,588 |
D199A |
probably damaging |
Het |
| Rbms3 |
C |
T |
9: 117,109,960 |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 |
|
probably benign |
Het |
| Rreb1 |
A |
G |
13: 37,932,231 |
M1189V |
probably benign |
Het |
| Slc25a39 |
T |
C |
11: 102,405,051 |
E118G |
probably damaging |
Het |
| Slfn5 |
G |
T |
11: 82,961,338 |
M763I |
probably benign |
Het |
| Speer4f2 |
A |
G |
5: 17,374,404 |
E67G |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,704,550 |
|
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,948,870 |
D26V |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 113,970,436 |
L50P |
probably damaging |
Het |
| Tle1 |
A |
G |
4: 72,118,534 |
L728P |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,741,250 |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,455,756 |
E53K |
probably damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,623,681 |
T568S |
possibly damaging |
Het |
|
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| Other mutations in Esd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00324:Esd
|
APN |
14 |
74736027 |
missense |
probably damaging |
1.00 |
|
IGL00534:Esd
|
APN |
14 |
74738461 |
missense |
probably damaging |
0.99 |
|
IGL00904:Esd
|
APN |
14 |
74749688 |
makesense |
probably null |
|
|
IGL01645:Esd
|
APN |
14 |
74749719 |
missense |
probably benign |
0.00 |
|
IGL03117:Esd
|
APN |
14 |
74741246 |
missense |
probably damaging |
1.00 |
|
R0766:Esd
|
UTSW |
14 |
74742121 |
missense |
probably damaging |
1.00 |
|
R1862:Esd
|
UTSW |
14 |
74742074 |
missense |
probably damaging |
1.00 |
|
R1892:Esd
|
UTSW |
14 |
74749673 |
missense |
probably damaging |
0.96 |
|
R3922:Esd
|
UTSW |
14 |
74743227 |
missense |
probably benign |
0.00 |
|
R4580:Esd
|
UTSW |
14 |
74742077 |
missense |
possibly damaging |
0.55 |
|
R4830:Esd
|
UTSW |
14 |
74741160 |
missense |
probably damaging |
1.00 |
|
R4969:Esd
|
UTSW |
14 |
74744713 |
missense |
possibly damaging |
0.76 |
|
R5211:Esd
|
UTSW |
14 |
74741192 |
missense |
probably damaging |
1.00 |
|
R5335:Esd
|
UTSW |
14 |
74742113 |
missense |
probably damaging |
0.99 |
|
R5810:Esd
|
UTSW |
14 |
74745611 |
missense |
probably damaging |
1.00 |
|
R7024:Esd
|
UTSW |
14 |
74744662 |
missense |
probably damaging |
1.00 |
|
R7759:Esd
|
UTSW |
14 |
74745567 |
nonsense |
probably null |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- GTGAGGCAGTCCACAACAGTAACAG -3'
(R):5'- CCAGAAACAGGTAAGTTTGGTGGCG -3'
Sequencing Primer
(F):5'- tgcctttaatctcagcactttaatc -3'
(R):5'- GCTGTCAGATAGACAGTGCG -3'
|
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| Posted On | 2013-11-07 |
|---|
