Incidental Mutation 'IGL01939:Ces1b'
| ID |
180779 |
| 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: 0.055)
|
| Stock # |
IGL01939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
93783356-93806645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93806059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 61
(G61R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
| AlphaFold |
D3Z5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109582
AA Change: G61R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: G61R
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
G |
T |
4: 129,885,925 (GRCm39) |
D22Y |
probably damaging |
Het |
| Ak7 |
T |
C |
12: 105,701,183 (GRCm39) |
V242A |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,551,769 (GRCm39) |
N1127S |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,976,380 (GRCm39) |
H267L |
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,632,286 (GRCm39) |
D355V |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,021,005 (GRCm39) |
S459P |
probably damaging |
Het |
| Crygd |
T |
C |
1: 65,101,185 (GRCm39) |
T137A |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,677,202 (GRCm39) |
M174K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,964,790 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,174,806 (GRCm39) |
D1969A |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,353,606 (GRCm39) |
E317V |
probably damaging |
Het |
| Foxf2 |
G |
T |
13: 31,810,697 (GRCm39) |
S212I |
probably damaging |
Het |
| Gm21759 |
T |
A |
5: 8,230,685 (GRCm39) |
|
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,105 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
T |
C |
16: 47,893,946 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa9 |
T |
C |
18: 35,071,761 (GRCm39) |
E613G |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,501,168 (GRCm39) |
I515V |
possibly damaging |
Het |
| Ins1 |
G |
T |
19: 52,253,173 (GRCm39) |
A38S |
probably damaging |
Het |
| Klhl31 |
A |
G |
9: 77,562,488 (GRCm39) |
N418D |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,961,778 (GRCm39) |
K417E |
probably damaging |
Het |
| Msh4 |
A |
G |
3: 153,563,226 (GRCm39) |
Y823H |
probably damaging |
Het |
| Myo6 |
T |
A |
9: 80,168,100 (GRCm39) |
D421E |
probably damaging |
Het |
| Myom3 |
T |
C |
4: 135,492,900 (GRCm39) |
S150P |
possibly damaging |
Het |
| Nectin1 |
C |
T |
9: 43,703,871 (GRCm39) |
|
probably benign |
Het |
| Nkx1-2 |
A |
T |
7: 132,201,203 (GRCm39) |
I18N |
probably damaging |
Het |
| Or4s2b |
A |
G |
2: 88,509,077 (GRCm39) |
T286A |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,807 (GRCm39) |
I272F |
probably benign |
Het |
| Or8g33 |
A |
C |
9: 39,337,634 (GRCm39) |
H244Q |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,505,285 (GRCm39) |
D70G |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,232,232 (GRCm39) |
R237G |
probably damaging |
Het |
| Pp2d1 |
G |
A |
17: 53,822,167 (GRCm39) |
L300F |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,420 (GRCm39) |
Y516N |
probably damaging |
Het |
| Ptprm |
T |
A |
17: 67,370,158 (GRCm39) |
|
probably benign |
Het |
| Rabggtb |
A |
G |
3: 153,617,650 (GRCm39) |
V16A |
probably damaging |
Het |
| Rangap1 |
A |
T |
15: 81,604,864 (GRCm39) |
C82S |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,003,480 (GRCm39) |
E393G |
probably damaging |
Het |
| Rasgrf1 |
A |
T |
9: 89,856,889 (GRCm39) |
E449V |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,859,334 (GRCm39) |
H1143Q |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,208,549 (GRCm39) |
I530T |
probably benign |
Het |
| Sel1l |
T |
A |
12: 91,783,021 (GRCm39) |
Q482L |
probably damaging |
Het |
| Serpinb9b |
T |
C |
13: 33,223,648 (GRCm39) |
M280T |
probably damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,871,895 (GRCm39) |
H348L |
probably benign |
Het |
| Slc7a2 |
T |
C |
8: 41,367,120 (GRCm39) |
L542P |
possibly damaging |
Het |
| Tas1r2 |
A |
T |
4: 139,396,488 (GRCm39) |
Q609L |
probably damaging |
Het |
| Tbc1d14 |
A |
T |
5: 36,665,781 (GRCm39) |
|
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,365,262 (GRCm39) |
|
probably null |
Het |
| Tpo |
T |
C |
12: 30,134,646 (GRCm39) |
T771A |
possibly damaging |
Het |
| Tpr |
G |
A |
1: 150,289,496 (GRCm39) |
R609H |
possibly damaging |
Het |
| Usp34 |
T |
A |
11: 23,295,141 (GRCm39) |
|
probably benign |
Het |
| Vmn1r193 |
G |
T |
13: 22,403,893 (GRCm39) |
S33* |
probably null |
Het |
| Vmn2r104 |
A |
C |
17: 20,250,187 (GRCm39) |
S695A |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r24 |
A |
G |
6: 123,764,404 (GRCm39) |
D427G |
probably benign |
Het |
| Zfp362 |
A |
G |
4: 128,680,846 (GRCm39) |
S160P |
probably benign |
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 |
|
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 |
|
IGL02833:Ces1b
|
APN |
8 |
93,806,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation