Incidental Mutation 'IGL01526:Ces1a'
| ID |
278554 |
| 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 # |
IGL01526
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,628 (GRCm39) |
|
probably benign |
Het |
| 4933430I17Rik |
G |
T |
4: 62,450,858 (GRCm39) |
R107L |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,348,997 (GRCm39) |
D388E |
probably benign |
Het |
| Art3 |
T |
C |
5: 92,562,199 (GRCm39) |
S354P |
probably damaging |
Het |
| Bpnt1 |
C |
A |
1: 185,077,591 (GRCm39) |
S102* |
probably null |
Het |
| Cfap65 |
A |
T |
1: 74,950,237 (GRCm39) |
S1171T |
probably damaging |
Het |
| Cracd |
T |
A |
5: 77,005,478 (GRCm39) |
M613K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,838 (GRCm39) |
H47R |
possibly damaging |
Het |
| Gm14496 |
T |
A |
2: 181,637,458 (GRCm39) |
D177E |
probably benign |
Het |
| Hmbs |
A |
G |
9: 44,250,845 (GRCm39) |
V126A |
possibly damaging |
Het |
| Ica1l |
A |
G |
1: 60,054,916 (GRCm39) |
M105T |
probably damaging |
Het |
| Morc2a |
G |
A |
11: 3,600,428 (GRCm39) |
E17K |
probably benign |
Het |
| Mroh8 |
T |
C |
2: 157,080,232 (GRCm39) |
|
probably benign |
Het |
| Mroh9 |
G |
T |
1: 162,883,172 (GRCm39) |
L436I |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,565,334 (GRCm39) |
D461G |
probably benign |
Het |
| Or10ag2 |
A |
T |
2: 87,249,319 (GRCm39) |
D309V |
probably damaging |
Het |
| Or2t45 |
A |
G |
11: 58,669,123 (GRCm39) |
T57A |
probably benign |
Het |
| Pcid2 |
G |
A |
8: 13,135,319 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3b |
G |
T |
8: 35,851,872 (GRCm39) |
R237L |
probably benign |
Het |
| Prdm11 |
A |
G |
2: 92,843,102 (GRCm39) |
V119A |
probably damaging |
Het |
| S100a7l2 |
T |
A |
3: 90,995,612 (GRCm39) |
|
probably benign |
Het |
| Serpina5 |
T |
A |
12: 104,068,149 (GRCm39) |
V70E |
probably damaging |
Het |
| Skap2 |
C |
T |
6: 51,884,894 (GRCm39) |
D249N |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,184,542 (GRCm39) |
|
probably benign |
Het |
| Slc4a1ap |
C |
A |
5: 31,685,571 (GRCm39) |
T283K |
possibly damaging |
Het |
| Slc6a21 |
T |
G |
7: 44,937,220 (GRCm39) |
I575S |
probably damaging |
Het |
| Smpd1 |
T |
G |
7: 105,203,982 (GRCm39) |
W82G |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,263,553 (GRCm39) |
M897L |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 64,972,406 (GRCm39) |
V586A |
probably damaging |
Het |
| Tmc8 |
T |
C |
11: 117,682,910 (GRCm39) |
|
probably benign |
Het |
| Trim34a |
A |
G |
7: 103,909,706 (GRCm39) |
Y298C |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,872,960 (GRCm39) |
V1000A |
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 |
|
|
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 |
|
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 |
Incidental Mutation