Incidental Mutation 'R6904:Ces1b'
| ID |
538686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1b
|
| Ensembl Gene |
ENSMUSG00000078964 |
| Gene Name |
carboxylesterase 1B |
| Synonyms |
Gm5158 |
| MMRRC Submission |
045033-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6904 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93783356-93806645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93787038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 447
(Y447F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
| AlphaFold |
D3Z5G7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109582
AA Change: Y447F
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: Y447F
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,275,516 (GRCm39) |
Y406* |
probably null |
Het |
| Acadvl |
T |
C |
11: 69,905,159 (GRCm39) |
D109G |
probably benign |
Het |
| Adam24 |
G |
A |
8: 41,134,542 (GRCm39) |
G670E |
probably damaging |
Het |
| Angpt1 |
T |
C |
15: 42,323,136 (GRCm39) |
M378V |
probably benign |
Het |
| Ankrd33 |
G |
A |
15: 101,014,993 (GRCm39) |
|
probably null |
Het |
| Apol7b |
G |
A |
15: 77,307,625 (GRCm39) |
T290I |
probably benign |
Het |
| Atg4a-ps |
A |
G |
3: 103,553,180 (GRCm39) |
W54R |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,663,069 (GRCm39) |
|
probably null |
Het |
| Bmp7 |
A |
G |
2: 172,714,706 (GRCm39) |
S368P |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,312,154 (GRCm39) |
V636A |
probably damaging |
Het |
| Cacna1i |
G |
A |
15: 80,259,002 (GRCm39) |
R1237H |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,980 (GRCm39) |
D697G |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,194 (GRCm39) |
T132A |
probably benign |
Het |
| Cfhr4 |
T |
G |
1: 139,659,391 (GRCm39) |
N642H |
possibly damaging |
Het |
| Cntn4 |
A |
T |
6: 106,674,544 (GRCm39) |
T1015S |
probably benign |
Het |
| Eea1 |
T |
G |
10: 95,838,741 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
C |
T |
7: 27,836,638 (GRCm39) |
R186C |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,684,828 (GRCm39) |
N262K |
possibly damaging |
Het |
| Jmjd8 |
G |
A |
17: 26,048,026 (GRCm39) |
R41H |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,178,259 (GRCm39) |
T344S |
probably damaging |
Het |
| Krt39 |
T |
C |
11: 99,410,647 (GRCm39) |
D175G |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,227 (GRCm39) |
Y81C |
probably damaging |
Het |
| Mpdu1 |
T |
A |
11: 69,549,411 (GRCm39) |
T95S |
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,135 (GRCm39) |
I31N |
probably damaging |
Het |
| Ndufaf5 |
T |
A |
2: 140,030,700 (GRCm39) |
Y195* |
probably null |
Het |
| Or4c119 |
G |
A |
2: 88,987,157 (GRCm39) |
R121C |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,652 (GRCm39) |
I45V |
probably benign |
Het |
| Or51v15-ps1 |
A |
T |
7: 103,278,790 (GRCm39) |
F126I |
probably benign |
Het |
| Or52z12 |
T |
A |
7: 103,233,727 (GRCm39) |
I166N |
possibly damaging |
Het |
| Or5w17 |
A |
G |
2: 87,584,223 (GRCm39) |
V38A |
probably benign |
Het |
| Oxgr1 |
T |
A |
14: 120,259,431 (GRCm39) |
I259F |
possibly damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,970 (GRCm39) |
D321E |
probably benign |
Het |
| Pi4kb |
G |
T |
3: 94,900,461 (GRCm39) |
R392L |
probably damaging |
Het |
| Pramel18 |
G |
A |
4: 101,767,291 (GRCm39) |
C180Y |
possibly damaging |
Het |
| Prss41 |
T |
C |
17: 24,056,622 (GRCm39) |
K151R |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,697,477 (GRCm39) |
V658D |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,115,108 (GRCm39) |
I430V |
probably damaging |
Het |
| Tanc2 |
C |
T |
11: 105,726,056 (GRCm39) |
H407Y |
possibly damaging |
Het |
| Tcf25 |
G |
A |
8: 124,127,437 (GRCm39) |
|
probably null |
Het |
| Tsc22d1 |
A |
T |
14: 76,743,923 (GRCm39) |
K24* |
probably null |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,547 (GRCm39) |
F762S |
probably damaging |
Het |
| Xrcc6 |
A |
G |
15: 81,913,323 (GRCm39) |
T319A |
probably benign |
Het |
| Zbtb1 |
C |
T |
12: 76,432,985 (GRCm39) |
R324* |
probably null |
Het |
| Zc3h7a |
A |
G |
16: 10,963,535 (GRCm39) |
Y729H |
probably damaging |
Het |
| Zfp329 |
C |
A |
7: 12,540,457 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
A |
T |
13: 67,514,384 (GRCm39) |
S441T |
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 |
|
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGAAACTTGCTGAAGGC -3'
(R):5'- CCTGGCTCAGATCTCAGTTTAAC -3'
Sequencing Primer
(F):5'- TTGCTGAAGGCTCCCAAACTG -3'
(R):5'- AGTTTAACCTCAACCAGCTGTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation