Incidental Mutation 'R0766:Esd'
| ID |
69516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esd
|
| Ensembl Gene |
ENSMUSG00000021996 |
| Gene Name |
esterase D/formylglutathione hydrolase |
| Synonyms |
Es10, Esd, Es-10 |
| MMRRC Submission |
038946-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R0766 (G1)
|
| Quality Score |
210 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
74969737-74988205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74979561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 122
(S122P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022573]
[ENSMUST00000175712]
[ENSMUST00000175887]
[ENSMUST00000176957]
[ENSMUST00000177137]
[ENSMUST00000177181]
[ENSMUST00000177283]
|
| AlphaFold |
Q9R0P3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022573
AA Change: S122P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: S122P
| 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: S122P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: S122P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Esterase
|
23 |
131 |
4.5e-30 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175887
AA Change: S122P
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: S122P
| 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 |
unknown
Transcript: ENSMUST00000176726
AA Change: S73P
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176957
AA Change: S135P
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: S135P
| 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: S122P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: S122P
| 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: S122P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: S122P
| 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: S122P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: S122P
| 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
|
| Meta Mutation Damage Score |
0.6188 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.4%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
T |
4: 103,127,994 (GRCm39) |
F44I |
probably damaging |
Het |
| A2m |
T |
C |
6: 121,653,849 (GRCm39) |
|
probably benign |
Het |
| Card14 |
T |
C |
11: 119,215,002 (GRCm39) |
S241P |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,188 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
C |
15: 28,448,633 (GRCm39) |
K4232T |
probably null |
Het |
| Eml6 |
A |
G |
11: 29,781,219 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,341,951 (GRCm39) |
V1415I |
probably benign |
Het |
| Fry |
T |
C |
5: 150,326,897 (GRCm39) |
|
probably benign |
Het |
| Gp1ba |
C |
T |
11: 70,532,253 (GRCm39) |
P673L |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,412,122 (GRCm39) |
P4781S |
probably damaging |
Het |
| Ift70a2 |
A |
T |
2: 75,806,676 (GRCm39) |
V612D |
probably benign |
Het |
| Iqch |
G |
A |
9: 63,389,965 (GRCm39) |
S738L |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,102,735 (GRCm39) |
T800S |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,387,861 (GRCm39) |
E1533G |
probably damaging |
Het |
| Klrg1 |
T |
C |
6: 122,256,622 (GRCm39) |
M55V |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,584,098 (GRCm39) |
N286S |
probably damaging |
Het |
| Mkx |
T |
A |
18: 6,937,192 (GRCm39) |
D284V |
probably benign |
Het |
| Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
| Otos |
A |
C |
1: 92,573,073 (GRCm39) |
L14R |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,074,256 (GRCm39) |
V765M |
probably damaging |
Het |
| Ppp4r3b |
A |
T |
11: 29,123,358 (GRCm39) |
Q18L |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,757,687 (GRCm39) |
|
probably null |
Het |
| Pwp1 |
G |
A |
10: 85,715,173 (GRCm39) |
D220N |
probably damaging |
Het |
| Rel |
G |
A |
11: 23,707,010 (GRCm39) |
T64I |
probably damaging |
Het |
| Snai2 |
T |
A |
16: 14,526,111 (GRCm39) |
M254K |
possibly damaging |
Het |
| Sntb2 |
A |
G |
8: 107,728,209 (GRCm39) |
T386A |
probably damaging |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex22 |
A |
G |
12: 113,052,143 (GRCm39) |
N67S |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,176,537 (GRCm39) |
S270A |
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn1r167 |
A |
G |
7: 23,204,548 (GRCm39) |
F156S |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,485,522 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,862,569 (GRCm39) |
E601G |
probably damaging |
Het |
| Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,906,023 (GRCm39) |
N63D |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAAGTGGCACGTACCATTCAAG -3'
(R):5'- ACCTGACTGAACCAGCTCTAGGAC -3'
Sequencing Primer
(F):5'- accctgtctcagcctcc -3'
(R):5'- CCAGCTCTAGGACATGAAGGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation