Incidental Mutation 'IGL03400:Ces3b'
| ID |
421375 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces3b
|
| Ensembl Gene |
ENSMUSG00000062181 |
| Gene Name |
carboxylesterase 3B |
| Synonyms |
Gm4738, ES31L |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL03400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105810385-105820561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105819568 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 495
(T495A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074403]
[ENSMUST00000093221]
[ENSMUST00000173088]
|
| AlphaFold |
Q8VCU1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074403
AA Change: T445A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: T445A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
13 |
436 |
1.8e-127 |
PFAM |
|
Pfam:Abhydrolase_3
|
147 |
303 |
2.8e-13 |
PFAM |
|
Pfam:COesterase
|
423 |
497 |
5.8e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093221
AA Change: T495A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: T495A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
13 |
547 |
9.5e-163 |
PFAM |
|
Pfam:Abhydrolase_3
|
147 |
304 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173088
|
| SMART Domains |
Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
114 |
2e-11 |
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 |
|---|
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
| Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
| Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
| Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
| Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
| Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
| Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
| Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
| Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
| Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
| Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
| Nek11 |
C |
T |
9: 105,082,065 (GRCm39) |
A513T |
probably benign |
Het |
| Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
| Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
| Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
| Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
| Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
| Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
| Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
| Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
| St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
| Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
| Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
| Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
Het |
|
| Other mutations in Ces3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Ces3b
|
APN |
8 |
105,818,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01324:Ces3b
|
APN |
8 |
105,819,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02418:Ces3b
|
APN |
8 |
105,812,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Ces3b
|
APN |
8 |
105,811,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0244:Ces3b
|
UTSW |
8 |
105,819,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Ces3b
|
UTSW |
8 |
105,810,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0800:Ces3b
|
UTSW |
8 |
105,811,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1833:Ces3b
|
UTSW |
8 |
105,812,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2130:Ces3b
|
UTSW |
8 |
105,819,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3790:Ces3b
|
UTSW |
8 |
105,813,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4827:Ces3b
|
UTSW |
8 |
105,813,527 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5411:Ces3b
|
UTSW |
8 |
105,815,264 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5790:Ces3b
|
UTSW |
8 |
105,819,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Ces3b
|
UTSW |
8 |
105,815,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Ces3b
|
UTSW |
8 |
105,819,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Ces3b
|
UTSW |
8 |
105,819,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6470:Ces3b
|
UTSW |
8 |
105,815,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6943:Ces3b
|
UTSW |
8 |
105,819,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Ces3b
|
UTSW |
8 |
105,813,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Ces3b
|
UTSW |
8 |
105,819,894 (GRCm39) |
makesense |
probably null |
|
|
R8162:Ces3b
|
UTSW |
8 |
105,817,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8924:Ces3b
|
UTSW |
8 |
105,811,619 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9369:Ces3b
|
UTSW |
8 |
105,813,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Ces3b
|
UTSW |
8 |
105,811,670 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9651:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces3b
|
UTSW |
8 |
105,811,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation