Incidental Mutation 'R9582:Ces1a'
ID |
722608 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1a
|
Ensembl Gene |
ENSMUSG00000071047 |
Gene Name |
carboxylesterase 1A |
Synonyms |
Gm4976 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9582 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93766156 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 153
(D153N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
AlphaFold |
E9PYP1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095211
AA Change: D153N
PolyPhen 2
Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000092836 Gene: ENSMUSG00000071047 AA Change: D153N
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
545 |
5.7e-169 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
286 |
8.4e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,772,766 (GRCm39) |
F652I |
probably damaging |
Het |
Adam17 |
A |
T |
12: 21,386,665 (GRCm39) |
I457K |
probably benign |
Het |
Arpin |
T |
C |
7: 79,585,038 (GRCm39) |
|
probably benign |
Het |
Bhlhe40 |
A |
G |
6: 108,638,467 (GRCm39) |
E51G |
probably benign |
Het |
Cog7 |
T |
C |
7: 121,536,200 (GRCm39) |
M547V |
probably benign |
Het |
Csrnp2 |
C |
T |
15: 100,386,067 (GRCm39) |
R57K |
possibly damaging |
Het |
Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
Ddost |
A |
T |
4: 138,035,583 (GRCm39) |
I101F |
possibly damaging |
Het |
Dyrk1b |
C |
T |
7: 27,882,028 (GRCm39) |
R130W |
probably damaging |
Het |
Ep400 |
A |
C |
5: 110,824,315 (GRCm39) |
|
probably null |
Het |
Fam227a |
A |
G |
15: 79,501,978 (GRCm39) |
V532A |
probably benign |
Het |
Flnc |
C |
A |
6: 29,460,736 (GRCm39) |
T2609K |
probably damaging |
Het |
Gbp10 |
A |
G |
5: 105,372,256 (GRCm39) |
V168A |
probably benign |
Het |
Gp5 |
A |
G |
16: 30,127,057 (GRCm39) |
V539A |
probably benign |
Het |
H2-T13 |
T |
A |
17: 36,392,375 (GRCm39) |
R33S |
unknown |
Het |
Itih5 |
A |
G |
2: 10,195,013 (GRCm39) |
E135G |
probably benign |
Het |
L2hgdh |
A |
G |
12: 69,739,172 (GRCm39) |
V433A |
probably benign |
Het |
Leng9 |
A |
G |
7: 4,152,263 (GRCm39) |
S138P |
probably damaging |
Het |
Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
Ly6g6e |
T |
C |
17: 35,296,159 (GRCm39) |
V10A |
probably benign |
Het |
Lypla1 |
C |
T |
1: 4,911,248 (GRCm39) |
P178S |
probably benign |
Het |
Mark1 |
A |
G |
1: 184,651,858 (GRCm39) |
F216L |
possibly damaging |
Het |
Mertk |
G |
A |
2: 128,624,527 (GRCm39) |
R646Q |
possibly damaging |
Het |
Mmp9 |
A |
C |
2: 164,791,235 (GRCm39) |
D135A |
probably benign |
Het |
Nefl |
A |
G |
14: 68,324,849 (GRCm39) |
K529E |
unknown |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nwd1 |
A |
G |
8: 73,421,917 (GRCm39) |
T988A |
probably damaging |
Het |
P4ha2 |
T |
A |
11: 54,022,065 (GRCm39) |
C529* |
probably null |
Het |
Pcdhb4 |
T |
A |
18: 37,441,417 (GRCm39) |
F242L |
probably damaging |
Het |
Pced1b |
A |
G |
15: 97,282,450 (GRCm39) |
N163S |
probably damaging |
Het |
Pde8b |
A |
G |
13: 95,169,369 (GRCm39) |
V585A |
probably damaging |
Het |
Pknox2 |
T |
A |
9: 36,804,252 (GRCm39) |
T432S |
probably damaging |
Het |
Rad18 |
A |
G |
6: 112,658,298 (GRCm39) |
|
probably null |
Het |
Rpgrip1l |
C |
T |
8: 91,996,886 (GRCm39) |
V665I |
probably benign |
Het |
Rreb1 |
A |
G |
13: 38,114,734 (GRCm39) |
I698V |
probably benign |
Het |
Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
Slc2a4 |
C |
T |
11: 69,837,450 (GRCm39) |
V32M |
probably damaging |
Het |
Slc40a1 |
A |
G |
1: 45,950,499 (GRCm39) |
Y318H |
probably damaging |
Het |
Spag16 |
A |
G |
1: 69,897,717 (GRCm39) |
T156A |
probably benign |
Het |
Srebf1 |
C |
A |
11: 60,097,868 (GRCm39) |
A103S |
probably benign |
Het |
Sspn |
C |
T |
6: 145,899,334 (GRCm39) |
|
probably benign |
Het |
Stoml2 |
A |
T |
4: 43,030,238 (GRCm39) |
|
probably null |
Het |
Stra6 |
T |
A |
9: 58,054,770 (GRCm39) |
V319E |
probably damaging |
Het |
Syt7 |
T |
C |
19: 10,416,780 (GRCm39) |
F414L |
probably damaging |
Het |
Tet3 |
G |
T |
6: 83,381,226 (GRCm39) |
P314Q |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,757,128 (GRCm39) |
L1313Q |
|
Het |
Topors |
A |
T |
4: 40,260,460 (GRCm39) |
D941E |
unknown |
Het |
Txnip |
T |
A |
3: 96,465,659 (GRCm39) |
C36* |
probably null |
Het |
Uba3 |
A |
T |
6: 97,168,491 (GRCm39) |
M178K |
probably damaging |
Het |
Vmn1r6 |
A |
G |
6: 56,979,925 (GRCm39) |
T196A |
probably benign |
Het |
Vwc2 |
T |
A |
11: 11,066,129 (GRCm39) |
S72R |
probably benign |
Het |
Wnk2 |
A |
G |
13: 49,210,975 (GRCm39) |
S1627P |
probably benign |
Het |
|
Other mutations in Ces1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00475:Ces1a
|
APN |
8 |
93,747,095 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00556:Ces1a
|
APN |
8 |
93,771,687 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00841:Ces1a
|
APN |
8 |
93,766,164 (GRCm39) |
nonsense |
probably null |
|
IGL01510:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01511:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01518:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01519:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01520:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01527:Ces1a
|
APN |
8 |
93,771,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01828:Ces1a
|
APN |
8 |
93,751,829 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01934:Ces1a
|
APN |
8 |
93,759,278 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02456:Ces1a
|
APN |
8 |
93,766,126 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02712:Ces1a
|
APN |
8 |
93,762,668 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02982:Ces1a
|
APN |
8 |
93,771,603 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03178:Ces1a
|
APN |
8 |
93,747,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03377:Ces1a
|
APN |
8 |
93,766,116 (GRCm39) |
missense |
probably damaging |
1.00 |
R0556:Ces1a
|
UTSW |
8 |
93,771,740 (GRCm39) |
missense |
probably benign |
0.01 |
R0613:Ces1a
|
UTSW |
8 |
93,752,209 (GRCm39) |
missense |
probably benign |
0.11 |
R0627:Ces1a
|
UTSW |
8 |
93,768,671 (GRCm39) |
missense |
probably benign |
0.03 |
R0686:Ces1a
|
UTSW |
8 |
93,749,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R0724:Ces1a
|
UTSW |
8 |
93,766,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R0930:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1063:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1215:Ces1a
|
UTSW |
8 |
93,759,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R1381:Ces1a
|
UTSW |
8 |
93,760,659 (GRCm39) |
missense |
probably damaging |
0.98 |
R1417:Ces1a
|
UTSW |
8 |
93,749,044 (GRCm39) |
missense |
probably benign |
0.00 |
R1850:Ces1a
|
UTSW |
8 |
93,753,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R2072:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2074:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2075:Ces1a
|
UTSW |
8 |
93,774,703 (GRCm39) |
missense |
probably benign |
0.29 |
R2114:Ces1a
|
UTSW |
8 |
93,766,179 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2213:Ces1a
|
UTSW |
8 |
93,751,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R2346:Ces1a
|
UTSW |
8 |
93,751,947 (GRCm39) |
missense |
probably benign |
0.07 |
R2347:Ces1a
|
UTSW |
8 |
93,751,947 (GRCm39) |
missense |
probably benign |
0.07 |
R2483:Ces1a
|
UTSW |
8 |
93,753,969 (GRCm39) |
missense |
probably damaging |
1.00 |
R4515:Ces1a
|
UTSW |
8 |
93,747,532 (GRCm39) |
missense |
probably damaging |
1.00 |
R4587:Ces1a
|
UTSW |
8 |
93,751,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R4691:Ces1a
|
UTSW |
8 |
93,759,287 (GRCm39) |
missense |
probably benign |
0.00 |
R4992:Ces1a
|
UTSW |
8 |
93,771,650 (GRCm39) |
missense |
probably benign |
0.08 |
R5074:Ces1a
|
UTSW |
8 |
93,759,303 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6086:Ces1a
|
UTSW |
8 |
93,753,981 (GRCm39) |
missense |
probably benign |
0.03 |
R7390:Ces1a
|
UTSW |
8 |
93,771,469 (GRCm39) |
splice site |
probably null |
|
R8926:Ces1a
|
UTSW |
8 |
93,751,841 (GRCm39) |
missense |
probably benign |
0.05 |
R9365:Ces1a
|
UTSW |
8 |
93,774,727 (GRCm39) |
missense |
probably benign |
0.00 |
R9636:Ces1a
|
UTSW |
8 |
93,759,263 (GRCm39) |
missense |
probably benign |
0.17 |
Z1088:Ces1a
|
UTSW |
8 |
93,752,235 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Ces1a
|
UTSW |
8 |
93,762,713 (GRCm39) |
missense |
probably benign |
0.45 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGATCTCTCAGAGGATGAAATGAC -3'
(R):5'- TGTGATCTGAGACCAAGTTTAGGG -3'
Sequencing Primer
(F):5'- CTCTCAGAGGATGAAATGACCAGGG -3'
(R):5'- ACCTTTTGTAACCACAATGGGC -3'
|
Posted On |
2022-08-09 |