Incidental Mutation 'R0930:Ces1a'
ID |
80769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1a
|
Ensembl Gene |
ENSMUSG00000071047 |
Gene Name |
carboxylesterase 1A |
Synonyms |
Gm4976 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0930 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
93746842-93774820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93749044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 456
(D456N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095211]
|
AlphaFold |
E9PYP1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095211
AA Change: D456N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000092836 Gene: ENSMUSG00000071047 AA Change: D456N
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: ENSMUST00000210735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210764
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
G |
T |
17: 84,990,705 (GRCm39) |
V16L |
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,432,028 (GRCm39) |
|
probably null |
Het |
Agpat4 |
A |
T |
17: 12,417,723 (GRCm39) |
E88V |
probably damaging |
Het |
Ahcyl2 |
A |
C |
6: 29,870,627 (GRCm39) |
|
probably null |
Het |
Ankrd2 |
T |
A |
19: 42,032,292 (GRCm39) |
|
probably null |
Het |
Anxa6 |
A |
T |
11: 54,885,214 (GRCm39) |
|
probably null |
Het |
Bpi |
A |
G |
2: 158,103,346 (GRCm39) |
I114V |
possibly damaging |
Het |
Cacna1c |
A |
T |
6: 118,652,857 (GRCm39) |
I772N |
probably damaging |
Het |
Cacna2d1 |
A |
G |
5: 16,570,860 (GRCm39) |
N1045D |
possibly damaging |
Het |
Caprin2 |
T |
C |
6: 148,785,009 (GRCm39) |
|
probably null |
Het |
Cars1 |
T |
A |
7: 143,124,307 (GRCm39) |
H373L |
probably damaging |
Het |
Ccdc191 |
G |
T |
16: 43,751,618 (GRCm39) |
G316V |
probably damaging |
Het |
Cd244a |
T |
A |
1: 171,404,801 (GRCm39) |
|
probably null |
Het |
Cul3 |
A |
T |
1: 80,267,835 (GRCm39) |
M102K |
probably damaging |
Het |
Dact1 |
A |
G |
12: 71,365,234 (GRCm39) |
R672G |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,905,262 (GRCm39) |
F991L |
probably benign |
Het |
Dlg5 |
G |
A |
14: 24,185,645 (GRCm39) |
P1920L |
probably damaging |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Exosc4 |
A |
G |
15: 76,211,734 (GRCm39) |
I14M |
probably benign |
Het |
Ezr |
G |
A |
17: 7,021,398 (GRCm39) |
R180* |
probably null |
Het |
Fcgbpl1 |
A |
T |
7: 27,839,555 (GRCm39) |
Y456F |
probably damaging |
Het |
Fyb1 |
A |
T |
15: 6,668,309 (GRCm39) |
I501F |
probably damaging |
Het |
Hdac5 |
G |
T |
11: 102,095,472 (GRCm39) |
P383Q |
probably benign |
Het |
Hmx3 |
A |
T |
7: 131,144,813 (GRCm39) |
H41L |
probably benign |
Het |
Krt36 |
A |
G |
11: 99,994,225 (GRCm39) |
F284S |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,625,862 (GRCm39) |
N686D |
probably damaging |
Het |
Lsamp |
G |
A |
16: 41,709,327 (GRCm39) |
G86S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,196,824 (GRCm39) |
E1819G |
possibly damaging |
Het |
Myo7a |
A |
T |
7: 97,747,463 (GRCm39) |
I129N |
probably damaging |
Het |
Nckap1 |
A |
T |
2: 80,384,593 (GRCm39) |
C114S |
probably benign |
Het |
Nphp4 |
T |
G |
4: 152,622,512 (GRCm39) |
L599R |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,596,667 (GRCm39) |
I301V |
probably benign |
Het |
Or6b2b |
A |
G |
1: 92,419,127 (GRCm39) |
S117P |
possibly damaging |
Het |
Os9 |
C |
T |
10: 126,932,924 (GRCm39) |
R547Q |
probably damaging |
Het |
Oxtr |
A |
T |
6: 112,466,598 (GRCm39) |
|
probably null |
Het |
Pgm2 |
A |
T |
5: 64,269,490 (GRCm39) |
I526F |
possibly damaging |
Het |
Plekho2 |
T |
C |
9: 65,464,105 (GRCm39) |
D248G |
possibly damaging |
Het |
Rab43 |
A |
T |
6: 87,769,752 (GRCm39) |
Y151* |
probably null |
Het |
Rbm19 |
A |
G |
5: 120,264,269 (GRCm39) |
E343G |
probably benign |
Het |
Rel |
A |
T |
11: 23,692,439 (GRCm39) |
D531E |
probably benign |
Het |
Rfx4 |
T |
A |
10: 84,704,291 (GRCm39) |
V262E |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,672,178 (GRCm39) |
L1431P |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,271 (GRCm39) |
I1102T |
probably benign |
Het |
Sema3d |
A |
C |
5: 12,513,183 (GRCm39) |
D51A |
possibly damaging |
Het |
Sh2d4a |
T |
A |
8: 68,787,775 (GRCm39) |
F294I |
probably damaging |
Het |
Slc3a1 |
A |
G |
17: 85,367,171 (GRCm39) |
T453A |
probably benign |
Het |
Sod1 |
A |
G |
16: 90,022,071 (GRCm39) |
D93G |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,906,040 (GRCm39) |
N1662S |
probably damaging |
Het |
Stxbp4 |
A |
C |
11: 90,512,526 (GRCm39) |
M1R |
probably null |
Het |
Tbc1d7 |
A |
T |
13: 43,318,812 (GRCm39) |
Y108* |
probably null |
Het |
Ticam1 |
A |
T |
17: 56,577,226 (GRCm39) |
V623D |
unknown |
Het |
Ticam1 |
A |
G |
17: 56,578,687 (GRCm39) |
L136P |
probably damaging |
Het |
Tjap1 |
A |
C |
17: 46,569,455 (GRCm39) |
W512G |
possibly damaging |
Het |
Unc80 |
A |
T |
1: 66,549,800 (GRCm39) |
Q686L |
possibly damaging |
Het |
Wdr45b |
A |
T |
11: 121,221,040 (GRCm39) |
F213I |
probably damaging |
Het |
Xdh |
A |
C |
17: 74,230,077 (GRCm39) |
W285G |
probably benign |
Het |
Zfp646 |
C |
T |
7: 127,482,982 (GRCm39) |
Q1500* |
probably null |
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 |
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'- GGATCATGAGGGTGACTACTTTGGC -3'
(R):5'- AAGCTGTGTTTCCCTTCTAGCTGTG -3'
Sequencing Primer
(F):5'- cagtgtgaccagccaacc -3'
(R):5'- GGATTTTCAGTGACTTTATACCACC -3'
|
Posted On |
2013-11-07 |