Incidental Mutation 'R3922:Esd'
| ID |
306995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Esd
|
| Ensembl Gene |
ENSMUSG00000021996 |
| Gene Name |
esterase D/formylglutathione hydrolase |
| Synonyms |
Es10, Esd, Es-10 |
| MMRRC Submission |
040819-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.197)
|
| Stock # |
R3922 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
74969737-74988205 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74980667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 130
(Q130H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022573]
[ENSMUST00000175712]
[ENSMUST00000175887]
[ENSMUST00000176957]
[ENSMUST00000177137]
[ENSMUST00000177181]
[ENSMUST00000177283]
|
| AlphaFold |
Q9R0P3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022573
AA Change: Q130H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: Q130H
| 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: 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: Q130H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: Q130H
| 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 benign
Transcript: ENSMUST00000176957
AA Change: Q143H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: Q143H
| 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
AA Change: Q130H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: Q130H
| 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 benign
Transcript: ENSMUST00000177181
AA Change: Q130H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: Q130H
| 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
AA Change: Q130H
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: Q130H
| 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 |
0.0623 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4921504E06Rik |
T |
A |
2: 19,485,371 (GRCm39) |
E432V |
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,983,692 (GRCm39) |
D1659N |
probably benign |
Het |
| Arfgap2 |
C |
T |
2: 91,105,150 (GRCm39) |
R405W |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,130,452 (GRCm39) |
L462P |
possibly damaging |
Het |
| Arid1b |
T |
C |
17: 5,393,316 (GRCm39) |
V2282A |
probably damaging |
Het |
| Becn2 |
T |
C |
1: 175,748,852 (GRCm39) |
V306A |
probably benign |
Het |
| Cdkl1 |
G |
T |
12: 69,803,373 (GRCm39) |
R168S |
probably damaging |
Het |
| Cep70 |
T |
A |
9: 99,157,632 (GRCm39) |
*117R |
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Cntrl |
A |
G |
2: 35,019,751 (GRCm39) |
E526G |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Eea1 |
T |
A |
10: 95,872,495 (GRCm39) |
N1068K |
probably benign |
Het |
| Egfr |
T |
A |
11: 16,831,495 (GRCm39) |
C555S |
probably damaging |
Het |
| Gpr89 |
A |
T |
3: 96,798,215 (GRCm39) |
I147N |
probably damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,577 (GRCm39) |
I76L |
probably benign |
Het |
| Lgi4 |
A |
T |
7: 30,766,873 (GRCm39) |
D300V |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,567,593 (GRCm39) |
V276L |
unknown |
Het |
| Lrp2 |
T |
C |
2: 69,336,720 (GRCm39) |
K1351E |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,064,731 (GRCm39) |
I782V |
probably benign |
Het |
| Msrb1 |
T |
C |
17: 24,959,057 (GRCm39) |
S70P |
probably damaging |
Het |
| Nek10 |
T |
C |
14: 14,861,585 (GRCm38) |
M547T |
possibly damaging |
Het |
| Or51ah3 |
T |
C |
7: 103,209,912 (GRCm39) |
V76A |
probably benign |
Het |
| Or6c2b |
C |
A |
10: 128,947,482 (GRCm39) |
V271F |
possibly damaging |
Het |
| Or9i2 |
T |
C |
19: 13,816,130 (GRCm39) |
T136A |
probably damaging |
Het |
| P4htm |
T |
C |
9: 108,460,094 (GRCm39) |
N227D |
probably benign |
Het |
| Plekhm2 |
T |
C |
4: 141,356,843 (GRCm39) |
T787A |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,999,622 (GRCm39) |
L155P |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,519,993 (GRCm39) |
Y1122C |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,357,217 (GRCm39) |
D1028V |
possibly damaging |
Het |
| Sft2d1 |
G |
T |
17: 8,537,714 (GRCm39) |
L34F |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Slc27a3 |
G |
T |
3: 90,294,392 (GRCm39) |
H460N |
possibly damaging |
Het |
| Slc35g2 |
A |
T |
9: 100,434,780 (GRCm39) |
I297N |
probably benign |
Het |
| Ssh1 |
T |
G |
5: 114,080,769 (GRCm39) |
Q865P |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,707,759 (GRCm39) |
D583G |
probably damaging |
Het |
| Usp28 |
T |
C |
9: 48,942,223 (GRCm39) |
|
probably null |
Het |
| Wdr43 |
A |
G |
17: 71,945,296 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,465,707 (GRCm39) |
Y1955C |
probably damaging |
Het |
| Zfp108 |
G |
A |
7: 23,960,773 (GRCm39) |
G455R |
probably damaging |
Het |
| Zfp353-ps |
A |
T |
8: 42,536,049 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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'- GGTGCGCACTGTTAGATCTC -3'
(R):5'- GTTGAACACCTTCTGCCAAC -3'
Sequencing Primer
(F):5'- AATCTGCACACGTTTTTCAGTGAC -3'
(R):5'- TCCCAATTCTAAGGCTACTTCAAAAG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation