Incidental Mutation 'R5614:Ces1b'
ID |
438144 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1b
|
Ensembl Gene |
ENSMUSG00000078964 |
Gene Name |
carboxylesterase 1B |
Synonyms |
Gm5158 |
MMRRC Submission |
043275-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R5614 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
93783356-93806645 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93794836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 254
(I254M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
AlphaFold |
D3Z5G7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109582
AA Change: I254M
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000105210 Gene: ENSMUSG00000078964 AA Change: I254M
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
547 |
7.6e-168 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
245 |
8.5e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGGTGACTAGAAGGGATACACTTATG -3'
(R):5'- TGTGGGATATAGTATCTACATCTGC -3'
Sequencing Primer
(F):5'- GGGATACACTTATGTACCAGTTTCAC -3'
(R):5'- CCACAAGATTAGTTTTGGTGCCAC -3'
|
Posted On |
2016-10-26 |