Incidental Mutation 'IGL02833:Ces1b'
| ID |
361529 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ces1b
|
| Ensembl Gene |
ENSMUSG00000078964 |
| Gene Name |
carboxylesterase 1B |
| Synonyms |
Gm5158 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93783356-93806645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93806038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 68
(P68S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
| AlphaFold |
D3Z5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109582
AA Change: P68S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: P68S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
547 |
7.6e-168 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
245 |
8.5e-11 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ache |
A |
G |
5: 137,289,371 (GRCm39) |
|
probably benign |
Het |
| Atr |
A |
T |
9: 95,744,905 (GRCm39) |
H74L |
probably damaging |
Het |
| Brca2 |
A |
T |
5: 150,465,255 (GRCm39) |
H1673L |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,853,771 (GRCm39) |
I495K |
probably damaging |
Het |
| Cacna1s |
A |
T |
1: 135,998,743 (GRCm39) |
I213F |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,962,332 (GRCm39) |
S316P |
possibly damaging |
Het |
| Cilp |
A |
G |
9: 65,185,206 (GRCm39) |
I434V |
probably benign |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,229 (GRCm39) |
Y30H |
probably damaging |
Het |
| Defb7 |
T |
C |
8: 19,545,140 (GRCm39) |
V6A |
probably benign |
Het |
| Dlg2 |
A |
T |
7: 92,080,335 (GRCm39) |
L841F |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,642,468 (GRCm39) |
N130S |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 98,833,732 (GRCm39) |
D1863V |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,897 (GRCm39) |
R1561G |
possibly damaging |
Het |
| Fads2b |
G |
T |
2: 85,332,551 (GRCm39) |
R158S |
possibly damaging |
Het |
| Gstt4 |
G |
T |
10: 75,658,174 (GRCm39) |
F28L |
probably damaging |
Het |
| Hectd1 |
G |
T |
12: 51,810,864 (GRCm39) |
D1690E |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,282,441 (GRCm39) |
S3394P |
probably benign |
Het |
| Ift25 |
T |
C |
4: 107,132,492 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
T |
17: 12,911,610 (GRCm39) |
C1910S |
probably damaging |
Het |
| Jakmip2 |
T |
C |
18: 43,708,516 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
T |
7: 125,449,584 (GRCm39) |
R883* |
probably null |
Het |
| Kif1b |
C |
T |
4: 149,330,821 (GRCm39) |
V612M |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,900,709 (GRCm39) |
E338G |
probably damaging |
Het |
| Mmp9 |
C |
A |
2: 164,791,723 (GRCm39) |
D205E |
probably damaging |
Het |
| Mylk |
A |
T |
16: 34,735,270 (GRCm39) |
H750L |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,121 (GRCm39) |
S801P |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,051,998 (GRCm39) |
M980K |
probably benign |
Het |
| Or14j1 |
G |
A |
17: 38,146,831 (GRCm39) |
V314I |
probably benign |
Het |
| Or2y3 |
T |
C |
17: 38,393,243 (GRCm39) |
K209E |
possibly damaging |
Het |
| Or5d43 |
C |
A |
2: 88,104,776 (GRCm39) |
V206F |
probably benign |
Het |
| Or6c88 |
A |
G |
10: 129,406,619 (GRCm39) |
T32A |
probably benign |
Het |
| Pdk1 |
A |
G |
2: 71,727,989 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,500 (GRCm39) |
S125P |
probably damaging |
Het |
| Pigu |
T |
C |
2: 155,187,565 (GRCm39) |
|
probably benign |
Het |
| Prr16 |
T |
A |
18: 51,436,164 (GRCm39) |
H214Q |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,800,715 (GRCm39) |
|
probably benign |
Het |
| Sf3b3 |
A |
G |
8: 111,538,609 (GRCm39) |
|
probably null |
Het |
| Sp4 |
T |
C |
12: 118,225,616 (GRCm39) |
I583V |
probably benign |
Het |
| Spata22 |
A |
G |
11: 73,234,569 (GRCm39) |
T224A |
probably benign |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tmem119 |
T |
A |
5: 113,933,432 (GRCm39) |
Y123F |
probably damaging |
Het |
| Umps |
A |
T |
16: 33,782,523 (GRCm39) |
L133* |
probably null |
Het |
| Usp46 |
T |
A |
5: 74,177,343 (GRCm39) |
T179S |
probably benign |
Het |
| Vtcn1 |
T |
A |
3: 100,795,701 (GRCm39) |
Y223N |
probably damaging |
Het |
| Wiz |
A |
G |
17: 32,576,853 (GRCm39) |
M567T |
probably damaging |
Het |
|
| Other mutations in Ces1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Ces1b
|
APN |
8 |
93,798,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01939:Ces1b
|
APN |
8 |
93,806,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Ces1b
|
APN |
8 |
93,791,524 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02338:Ces1b
|
APN |
8 |
93,783,675 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02647:Ces1b
|
APN |
8 |
93,783,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03038:Ces1b
|
APN |
8 |
93,793,680 (GRCm39) |
missense |
probably benign |
|
|
IGL03149:Ces1b
|
APN |
8 |
93,791,502 (GRCm39) |
splice site |
probably benign |
|
|
FR4548:Ces1b
|
UTSW |
8 |
93,794,720 (GRCm39) |
missense |
probably null |
|
|
IGL02802:Ces1b
|
UTSW |
8 |
93,783,594 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0382:Ces1b
|
UTSW |
8 |
93,802,680 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Ces1b
|
UTSW |
8 |
93,806,056 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0959:Ces1b
|
UTSW |
8 |
93,794,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Ces1b
|
UTSW |
8 |
93,794,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1440:Ces1b
|
UTSW |
8 |
93,794,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1667:Ces1b
|
UTSW |
8 |
93,783,532 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2113:Ces1b
|
UTSW |
8 |
93,794,783 (GRCm39) |
missense |
probably benign |
|
|
R2193:Ces1b
|
UTSW |
8 |
93,806,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Ces1b
|
UTSW |
8 |
93,799,969 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4656:Ces1b
|
UTSW |
8 |
93,784,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4776:Ces1b
|
UTSW |
8 |
93,789,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5108:Ces1b
|
UTSW |
8 |
93,798,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Ces1b
|
UTSW |
8 |
93,799,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5308:Ces1b
|
UTSW |
8 |
93,793,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ces1b
|
UTSW |
8 |
93,791,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5392:Ces1b
|
UTSW |
8 |
93,798,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5614:Ces1b
|
UTSW |
8 |
93,794,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Ces1b
|
UTSW |
8 |
93,799,890 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6554:Ces1b
|
UTSW |
8 |
93,791,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6576:Ces1b
|
UTSW |
8 |
93,783,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6601:Ces1b
|
UTSW |
8 |
93,806,109 (GRCm39) |
missense |
probably benign |
|
|
R6662:Ces1b
|
UTSW |
8 |
93,790,697 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6753:Ces1b
|
UTSW |
8 |
93,793,648 (GRCm39) |
nonsense |
probably null |
|
|
R6904:Ces1b
|
UTSW |
8 |
93,787,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7267:Ces1b
|
UTSW |
8 |
93,806,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7371:Ces1b
|
UTSW |
8 |
93,783,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7396:Ces1b
|
UTSW |
8 |
93,789,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7992:Ces1b
|
UTSW |
8 |
93,786,987 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8022:Ces1b
|
UTSW |
8 |
93,795,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8728:Ces1b
|
UTSW |
8 |
93,798,576 (GRCm39) |
missense |
probably benign |
|
|
R8809:Ces1b
|
UTSW |
8 |
93,786,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Ces1b
|
UTSW |
8 |
93,786,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Ces1b
|
UTSW |
8 |
93,798,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Ces1b
|
UTSW |
8 |
93,799,890 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9638:Ces1b
|
UTSW |
8 |
93,806,534 (GRCm39) |
missense |
probably benign |
|
|
R9667:Ces1b
|
UTSW |
8 |
93,791,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9745:Ces1b
|
UTSW |
8 |
93,790,625 (GRCm39) |
missense |
probably benign |
|
|
R9757:Ces1b
|
UTSW |
8 |
93,806,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0024:Ces1b
|
UTSW |
8 |
93,789,645 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ces1b
|
UTSW |
8 |
93,791,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Ces1b
|
UTSW |
8 |
93,802,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation