Incidental Mutation 'R0724:Ces1a'
ID |
63817 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1a
|
Ensembl Gene |
ENSMUSG00000071047 |
Gene Name |
carboxylesterase 1A |
Synonyms |
Gm4976 |
MMRRC Submission |
038906-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0724 (G1)
|
Quality Score |
202 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93766141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 158
(S158P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
AlphaFold |
E9PYP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095211
AA Change: S158P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000092836 Gene: ENSMUSG00000071047 AA Change: S158P
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
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
A |
G |
5: 144,981,573 (GRCm39) |
E136G |
probably benign |
Het |
Adgre4 |
T |
A |
17: 56,159,281 (GRCm39) |
S655R |
probably benign |
Het |
Ak7 |
T |
A |
12: 105,676,513 (GRCm39) |
V71E |
probably benign |
Het |
Ank2 |
C |
T |
3: 126,755,986 (GRCm39) |
R1077H |
probably damaging |
Het |
Anxa3 |
A |
G |
5: 96,976,607 (GRCm39) |
T198A |
possibly damaging |
Het |
Atp1a1 |
A |
T |
3: 101,499,755 (GRCm39) |
I109N |
possibly damaging |
Het |
Camta1 |
A |
G |
4: 151,162,349 (GRCm39) |
I119T |
probably damaging |
Het |
Carm1 |
A |
G |
9: 21,498,670 (GRCm39) |
Y504C |
probably damaging |
Het |
Casp1 |
C |
T |
9: 5,303,077 (GRCm39) |
P177L |
probably benign |
Het |
Ccdc122 |
C |
A |
14: 77,329,517 (GRCm39) |
|
probably benign |
Het |
Ces3a |
T |
A |
8: 105,776,827 (GRCm39) |
D103E |
possibly damaging |
Het |
Clstn1 |
A |
C |
4: 149,728,081 (GRCm39) |
D583A |
possibly damaging |
Het |
Corin |
A |
G |
5: 72,490,138 (GRCm39) |
|
probably benign |
Het |
Cryba1 |
T |
C |
11: 77,610,283 (GRCm39) |
D144G |
probably damaging |
Het |
Cwf19l2 |
G |
T |
9: 3,421,377 (GRCm39) |
|
probably null |
Het |
Dis3l |
T |
C |
9: 64,214,408 (GRCm39) |
T1027A |
possibly damaging |
Het |
Dop1b |
A |
G |
16: 93,559,213 (GRCm39) |
E653G |
probably benign |
Het |
Dst |
A |
G |
1: 34,227,758 (GRCm39) |
I1459V |
probably benign |
Het |
Dyrk3 |
T |
C |
1: 131,057,877 (GRCm39) |
T64A |
probably benign |
Het |
Emp2 |
C |
T |
16: 10,102,479 (GRCm39) |
C111Y |
probably benign |
Het |
Enam |
A |
G |
5: 88,649,853 (GRCm39) |
Y454C |
probably damaging |
Het |
Fbn1 |
A |
T |
2: 125,193,984 (GRCm39) |
C1328S |
probably benign |
Het |
Gata3 |
T |
C |
2: 9,879,386 (GRCm39) |
T197A |
probably benign |
Het |
Gm1043 |
A |
G |
5: 37,344,573 (GRCm39) |
T212A |
probably damaging |
Het |
H2-Eb1 |
T |
C |
17: 34,534,006 (GRCm39) |
|
probably benign |
Het |
Hand1 |
T |
C |
11: 57,722,506 (GRCm39) |
H36R |
probably damaging |
Het |
Hmgcs2 |
C |
A |
3: 98,204,317 (GRCm39) |
Y239* |
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,845,490 (GRCm39) |
Y68C |
probably damaging |
Het |
Inpp5a |
A |
G |
7: 139,096,579 (GRCm39) |
I143V |
probably benign |
Het |
Klhdc2 |
C |
A |
12: 69,343,822 (GRCm39) |
F18L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,069,130 (GRCm39) |
Y251C |
probably damaging |
Het |
Lrch4 |
A |
T |
5: 137,635,570 (GRCm39) |
N315I |
probably damaging |
Het |
Map3k10 |
A |
C |
7: 27,367,780 (GRCm39) |
V286G |
probably damaging |
Het |
Myo7b |
G |
A |
18: 32,138,602 (GRCm39) |
|
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,322,221 (GRCm39) |
L809I |
probably damaging |
Het |
Oacyl |
T |
C |
18: 65,870,896 (GRCm39) |
|
probably benign |
Het |
Or4q3 |
A |
G |
14: 50,583,374 (GRCm39) |
V175A |
possibly damaging |
Het |
Paxbp1 |
T |
A |
16: 90,833,424 (GRCm39) |
D270V |
probably damaging |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Pira13 |
T |
C |
7: 3,819,871 (GRCm39) |
N564S |
possibly damaging |
Het |
Plcb3 |
G |
A |
19: 6,940,760 (GRCm39) |
R359C |
probably damaging |
Het |
Plcxd3 |
G |
A |
15: 4,546,350 (GRCm39) |
S118N |
probably damaging |
Het |
Ptpn14 |
T |
C |
1: 189,583,144 (GRCm39) |
S664P |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,159,752 (GRCm39) |
I443V |
possibly damaging |
Het |
Slc7a8 |
G |
A |
14: 54,972,643 (GRCm39) |
|
probably benign |
Het |
Smim14 |
A |
G |
5: 65,610,682 (GRCm39) |
|
probably benign |
Het |
Sost |
C |
T |
11: 101,857,744 (GRCm39) |
C19Y |
probably benign |
Het |
Tcaf1 |
G |
T |
6: 42,652,301 (GRCm39) |
A727E |
probably damaging |
Het |
Thoc1 |
T |
C |
18: 9,963,829 (GRCm39) |
L144P |
probably damaging |
Het |
Tmem132b |
A |
T |
5: 125,860,485 (GRCm39) |
T577S |
possibly damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Tshr |
T |
C |
12: 91,505,060 (GRCm39) |
F666S |
probably damaging |
Het |
Wdr1 |
A |
G |
5: 38,698,205 (GRCm39) |
V192A |
possibly damaging |
Het |
Zfp697 |
T |
C |
3: 98,335,482 (GRCm39) |
W416R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCAGAGGATGAAATGACCAGGGAT -3'
(R):5'- TGGTACATGATGACATTTGCAGTTGGA -3'
Sequencing Primer
(F):5'- GGATGAGCCCTAATGTCCTCAC -3'
(R):5'- Tacacacacacacacacacac -3'
|
Posted On |
2013-07-30 |