Incidental Mutation 'IGL01510:Ces1a'
ID |
278548 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces1a
|
Ensembl Gene |
ENSMUSG00000071047 |
Gene Name |
carboxylesterase 1A |
Synonyms |
Gm4976 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01510
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 93771726 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 24
(P24T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
AlphaFold |
E9PYP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095211
AA Change: P24T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092836 Gene: ENSMUSG00000071047 AA Change: P24T
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
545 |
5.7e-169 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
286 |
8.4e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209831
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210764
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,143,979 (GRCm39) |
Q6R |
probably damaging |
Het |
Adam5 |
A |
T |
8: 25,294,481 (GRCm39) |
C373S |
probably damaging |
Het |
Adgre4 |
T |
C |
17: 56,125,760 (GRCm39) |
|
probably null |
Het |
Akap10 |
A |
T |
11: 61,768,846 (GRCm39) |
M614K |
possibly damaging |
Het |
Amigo2 |
T |
C |
15: 97,142,962 (GRCm39) |
T487A |
probably benign |
Het |
Asap1 |
T |
C |
15: 64,030,777 (GRCm39) |
D300G |
probably damaging |
Het |
Atp4a |
C |
A |
7: 30,420,216 (GRCm39) |
L788M |
probably benign |
Het |
Bcl3 |
T |
A |
7: 19,543,539 (GRCm39) |
H309L |
probably damaging |
Het |
Cblc |
T |
C |
7: 19,519,200 (GRCm39) |
N376S |
probably benign |
Het |
Cd200r2 |
A |
T |
16: 44,729,674 (GRCm39) |
I110L |
probably benign |
Het |
Ceacam3 |
T |
C |
7: 16,893,767 (GRCm39) |
M426T |
probably benign |
Het |
Cep295 |
G |
A |
9: 15,265,922 (GRCm39) |
R29* |
probably null |
Het |
Ctps1 |
G |
T |
4: 120,416,041 (GRCm39) |
T194K |
probably damaging |
Het |
Cul3 |
A |
G |
1: 80,260,396 (GRCm39) |
S318P |
probably damaging |
Het |
Fasl |
A |
T |
1: 161,609,522 (GRCm39) |
S155T |
possibly damaging |
Het |
Gldc |
C |
T |
19: 30,091,121 (GRCm39) |
|
probably null |
Het |
Gpr21 |
T |
A |
2: 37,408,433 (GRCm39) |
C326* |
probably null |
Het |
Gtf2a1 |
A |
G |
12: 91,534,607 (GRCm39) |
S216P |
probably benign |
Het |
Hoxb5 |
A |
T |
11: 96,194,818 (GRCm39) |
S127C |
possibly damaging |
Het |
Htt |
A |
T |
5: 35,064,856 (GRCm39) |
Q3023L |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,055,700 (GRCm39) |
H855L |
possibly damaging |
Het |
Lars1 |
T |
C |
18: 42,375,174 (GRCm39) |
I289V |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Mapk7 |
A |
T |
11: 61,381,986 (GRCm39) |
W309R |
probably damaging |
Het |
Mmp12 |
A |
G |
9: 7,358,307 (GRCm39) |
T468A |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,412,798 (GRCm39) |
N1915Y |
unknown |
Het |
Naprt |
A |
G |
15: 75,762,837 (GRCm39) |
|
probably benign |
Het |
Nfatc1 |
T |
C |
18: 80,741,403 (GRCm39) |
Y199C |
probably damaging |
Het |
Or7e166 |
A |
T |
9: 19,624,575 (GRCm39) |
I151F |
probably benign |
Het |
Or8g51 |
T |
C |
9: 38,609,201 (GRCm39) |
I158V |
probably benign |
Het |
Phip |
T |
A |
9: 82,795,924 (GRCm39) |
I566F |
probably benign |
Het |
Pnpla3 |
T |
A |
15: 84,055,273 (GRCm39) |
|
probably benign |
Het |
Ptpn13 |
C |
T |
5: 103,710,166 (GRCm39) |
T1567I |
probably damaging |
Het |
Ptpn20 |
A |
G |
14: 33,360,343 (GRCm39) |
|
probably null |
Het |
Ptprq |
G |
T |
10: 107,547,909 (GRCm39) |
T163K |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,955,794 (GRCm39) |
C415R |
probably damaging |
Het |
Slco4c1 |
A |
G |
1: 96,795,678 (GRCm39) |
S127P |
probably damaging |
Het |
Tcerg1l |
A |
T |
7: 137,996,034 (GRCm39) |
|
probably benign |
Het |
Thbd |
C |
T |
2: 148,248,894 (GRCm39) |
V325M |
probably damaging |
Het |
Trim37 |
G |
A |
11: 87,068,686 (GRCm39) |
R344H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,703,109 (GRCm39) |
|
probably benign |
Het |
Uvrag |
G |
A |
7: 98,653,796 (GRCm39) |
Q65* |
probably null |
Het |
Wrap53 |
G |
A |
11: 69,453,566 (GRCm39) |
S342L |
possibly damaging |
Het |
Zbtb11 |
T |
G |
16: 55,810,706 (GRCm39) |
V288G |
probably damaging |
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 |
|
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 |
R9582:Ces1a
|
UTSW |
8 |
93,766,156 (GRCm39) |
missense |
probably benign |
0.33 |
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 |
|
Posted On |
2015-04-16 |