Incidental Mutation 'IGL01520:Ces1a'
ID |
278569 |
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 # |
IGL01520
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
A |
7: 78,734,318 (GRCm39) |
H58Q |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,347,754 (GRCm39) |
L149Q |
probably damaging |
Het |
Bltp1 |
T |
A |
3: 37,027,409 (GRCm39) |
Y2265* |
probably null |
Het |
Cd40lg |
A |
G |
X: 56,265,148 (GRCm39) |
N132D |
probably benign |
Het |
Cemip |
G |
T |
7: 83,597,830 (GRCm39) |
T1060K |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,246,206 (GRCm39) |
S328T |
probably benign |
Het |
Cfap70 |
A |
G |
14: 20,470,755 (GRCm39) |
C497R |
probably benign |
Het |
Cndp2 |
T |
C |
18: 84,686,732 (GRCm39) |
K430R |
probably benign |
Het |
Cplane1 |
C |
A |
15: 8,251,395 (GRCm39) |
T1889K |
probably damaging |
Het |
Crlf3 |
T |
C |
11: 79,950,972 (GRCm39) |
D126G |
probably benign |
Het |
Cxcr1 |
A |
T |
1: 74,231,434 (GRCm39) |
L196Q |
probably damaging |
Het |
E330013P04Rik |
A |
G |
19: 60,150,329 (GRCm39) |
|
noncoding transcript |
Het |
Erbb2 |
C |
T |
11: 98,324,835 (GRCm39) |
H810Y |
probably benign |
Het |
Fmn1 |
C |
A |
2: 113,274,713 (GRCm39) |
|
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,325 (GRCm39) |
T199A |
possibly damaging |
Het |
Gcsh |
A |
G |
8: 117,710,688 (GRCm39) |
|
probably benign |
Het |
Gm10073 |
T |
A |
8: 107,299,901 (GRCm39) |
I28F |
probably benign |
Het |
Gucy1a2 |
C |
A |
9: 3,759,561 (GRCm39) |
Q456K |
probably damaging |
Het |
Hgs |
C |
A |
11: 120,369,174 (GRCm39) |
P317T |
probably damaging |
Het |
Inmt |
C |
A |
6: 55,148,213 (GRCm39) |
V139F |
probably damaging |
Het |
Kcnma1 |
C |
A |
14: 23,551,211 (GRCm39) |
M460I |
possibly damaging |
Het |
Map9 |
A |
T |
3: 82,286,272 (GRCm39) |
N359I |
probably damaging |
Het |
Mavs |
T |
C |
2: 131,087,263 (GRCm39) |
S254P |
probably benign |
Het |
Mcts1 |
T |
A |
X: 37,700,636 (GRCm39) |
|
probably benign |
Het |
Mecp2 |
C |
A |
X: 73,079,447 (GRCm39) |
R344L |
possibly damaging |
Het |
Or1e32 |
T |
G |
11: 73,705,612 (GRCm39) |
T99P |
probably damaging |
Het |
Or4z4 |
A |
G |
19: 12,077,000 (GRCm39) |
M1T |
probably null |
Het |
Or5b3 |
G |
T |
19: 13,388,114 (GRCm39) |
M60I |
probably damaging |
Het |
Or8g36 |
T |
C |
9: 39,422,342 (GRCm39) |
I225V |
possibly damaging |
Het |
Or8g54 |
T |
G |
9: 39,706,674 (GRCm39) |
M1R |
probably null |
Het |
Or9g4 |
T |
C |
2: 85,504,701 (GRCm39) |
T265A |
probably benign |
Het |
Rasgrp1 |
T |
C |
2: 117,119,144 (GRCm39) |
I498V |
probably damaging |
Het |
Rbbp6 |
T |
A |
7: 122,584,898 (GRCm39) |
S185T |
possibly damaging |
Het |
Rd3 |
A |
T |
1: 191,717,283 (GRCm39) |
H251L |
possibly damaging |
Het |
Rnf180 |
T |
A |
13: 105,386,864 (GRCm39) |
D148V |
probably damaging |
Het |
Rnf43 |
C |
A |
11: 87,555,542 (GRCm39) |
A34E |
probably damaging |
Het |
Rslcan18 |
A |
G |
13: 67,250,172 (GRCm39) |
V21A |
probably benign |
Het |
Septin9 |
T |
C |
11: 117,243,469 (GRCm39) |
V128A |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,110,482 (GRCm39) |
H103R |
probably benign |
Het |
Spata6l |
A |
T |
19: 28,873,532 (GRCm39) |
|
probably null |
Het |
Ssh2 |
A |
G |
11: 77,340,732 (GRCm39) |
D628G |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,051 (GRCm39) |
|
probably null |
Het |
Tmem119 |
A |
G |
5: 113,933,546 (GRCm39) |
F85S |
probably damaging |
Het |
Tpp1 |
A |
T |
7: 105,396,936 (GRCm39) |
I398N |
probably benign |
Het |
Ttc3 |
T |
C |
16: 94,191,066 (GRCm39) |
Y203H |
probably benign |
Het |
Vars1 |
G |
T |
17: 35,232,849 (GRCm39) |
V898L |
probably benign |
Het |
Vmn1r85 |
A |
C |
7: 12,819,081 (GRCm39) |
V21G |
probably damaging |
Het |
Zfp521 |
T |
C |
18: 14,072,045 (GRCm39) |
H65R |
possibly 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 |
|
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 |
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 |