Incidental Mutation 'IGL02616:Ces1c'
ID |
300650 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ces1c
|
Ensembl Gene |
ENSMUSG00000057400 |
Gene Name |
carboxylesterase 1C |
Synonyms |
Ces-N, Es-N, Es-1, Ee-1, Es-4, Es1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.065)
|
Stock # |
IGL02616
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
93825643-93857911 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 93833243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 407
(M407I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034189
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034189]
[ENSMUST00000211843]
|
AlphaFold |
P23953 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034189
AA Change: M407I
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000034189 Gene: ENSMUSG00000057400 AA Change: M407I
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
534 |
4e-167 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
235 |
6.2e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211843
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212091
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit protection against nerve agents such as chlorpyrifos and chlorpyrifos oxon but increased sensitivity to soman coumarin. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,138,644 (GRCm39) |
R190G |
probably benign |
Het |
4931406B18Rik |
T |
C |
7: 43,150,437 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,020,971 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,982,991 (GRCm39) |
P1425Q |
probably benign |
Het |
Arih1 |
A |
G |
9: 59,319,759 (GRCm39) |
V285A |
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,257,963 (GRCm39) |
V906A |
probably benign |
Het |
Atp2a2 |
A |
T |
5: 122,599,747 (GRCm39) |
I548N |
probably benign |
Het |
C2cd5 |
A |
T |
6: 142,980,837 (GRCm39) |
S643T |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,624,285 (GRCm39) |
D210G |
probably damaging |
Het |
Cep128 |
A |
G |
12: 91,263,032 (GRCm39) |
I289T |
probably benign |
Het |
Cntln |
T |
G |
4: 85,033,689 (GRCm39) |
|
probably null |
Het |
Cypt12 |
T |
A |
3: 18,002,892 (GRCm39) |
H88Q |
possibly damaging |
Het |
Ddc |
T |
A |
11: 11,830,645 (GRCm39) |
|
probably benign |
Het |
Dnajb12 |
T |
C |
10: 59,728,685 (GRCm39) |
|
probably null |
Het |
Gata2 |
A |
G |
6: 88,182,462 (GRCm39) |
T477A |
possibly damaging |
Het |
Gckr |
A |
G |
5: 31,484,419 (GRCm39) |
D619G |
probably benign |
Het |
Gm5699 |
A |
T |
1: 31,037,432 (GRCm39) |
|
noncoding transcript |
Het |
Gm8257 |
T |
A |
14: 44,892,683 (GRCm39) |
S106C |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,567 (GRCm39) |
L174R |
probably damaging |
Het |
Hnrnph3 |
T |
A |
10: 62,855,264 (GRCm39) |
H7L |
possibly damaging |
Het |
Ide |
A |
T |
19: 37,275,455 (GRCm39) |
I518N |
unknown |
Het |
Igdcc4 |
G |
A |
9: 65,040,360 (GRCm39) |
G957D |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,226,027 (GRCm39) |
P2549S |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,153,531 (GRCm39) |
S198P |
probably damaging |
Het |
Lclat1 |
T |
C |
17: 73,476,528 (GRCm39) |
I45T |
probably benign |
Het |
Met |
T |
C |
6: 17,553,346 (GRCm39) |
L1044S |
probably damaging |
Het |
Msh4 |
T |
C |
3: 153,563,160 (GRCm39) |
T739A |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,419,988 (GRCm39) |
E776G |
probably benign |
Het |
Ndufv3 |
G |
A |
17: 31,746,643 (GRCm39) |
V178M |
probably damaging |
Het |
Nlgn1 |
T |
C |
3: 25,488,409 (GRCm39) |
Y613C |
probably damaging |
Het |
Nmbr |
T |
C |
10: 14,636,431 (GRCm39) |
|
probably benign |
Het |
Orc1 |
T |
A |
4: 108,452,676 (GRCm39) |
W184R |
probably benign |
Het |
Pde6b |
T |
C |
5: 108,579,407 (GRCm39) |
S850P |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,085,505 (GRCm39) |
|
probably benign |
Het |
Pomt2 |
T |
A |
12: 87,171,636 (GRCm39) |
H378L |
probably damaging |
Het |
Sh3gl3 |
C |
T |
7: 81,934,226 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,408,984 (GRCm39) |
N679K |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,019,850 (GRCm39) |
M572T |
probably benign |
Het |
Twf2 |
C |
T |
9: 106,089,955 (GRCm39) |
Q103* |
probably null |
Het |
Uncx |
T |
C |
5: 139,532,523 (GRCm39) |
I196T |
possibly damaging |
Het |
Urgcp |
A |
G |
11: 5,667,400 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn1r222 |
A |
T |
13: 23,416,311 (GRCm39) |
C301S |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,031 (GRCm39) |
Q325L |
possibly damaging |
Het |
Vps4a |
C |
T |
8: 107,768,909 (GRCm39) |
R236W |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,380,924 (GRCm39) |
H344Q |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,578,443 (GRCm39) |
D356E |
probably damaging |
Het |
Zc3h10 |
T |
C |
10: 128,380,751 (GRCm39) |
E202G |
probably benign |
Het |
|
Other mutations in Ces1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Ces1c
|
APN |
8 |
93,833,301 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00558:Ces1c
|
APN |
8 |
93,825,899 (GRCm39) |
missense |
probably benign |
0.03 |
IGL00787:Ces1c
|
APN |
8 |
93,846,994 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL00851:Ces1c
|
APN |
8 |
93,849,745 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01598:Ces1c
|
APN |
8 |
93,845,041 (GRCm39) |
missense |
probably benign |
|
IGL03087:Ces1c
|
APN |
8 |
93,845,042 (GRCm39) |
missense |
probably benign |
|
IGL03203:Ces1c
|
APN |
8 |
93,851,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0119:Ces1c
|
UTSW |
8 |
93,834,238 (GRCm39) |
missense |
probably benign |
0.00 |
R0119:Ces1c
|
UTSW |
8 |
93,833,345 (GRCm39) |
unclassified |
probably benign |
|
R0255:Ces1c
|
UTSW |
8 |
93,854,152 (GRCm39) |
missense |
probably benign |
|
R0759:Ces1c
|
UTSW |
8 |
93,857,492 (GRCm39) |
nonsense |
probably null |
|
R1499:Ces1c
|
UTSW |
8 |
93,854,233 (GRCm39) |
missense |
probably benign |
0.01 |
R1926:Ces1c
|
UTSW |
8 |
93,854,232 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2087:Ces1c
|
UTSW |
8 |
93,834,230 (GRCm39) |
missense |
probably benign |
0.00 |
R2142:Ces1c
|
UTSW |
8 |
93,857,468 (GRCm39) |
missense |
probably benign |
|
R2442:Ces1c
|
UTSW |
8 |
93,849,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R2971:Ces1c
|
UTSW |
8 |
93,830,821 (GRCm39) |
missense |
probably benign |
0.01 |
R3079:Ces1c
|
UTSW |
8 |
93,846,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R3080:Ces1c
|
UTSW |
8 |
93,846,975 (GRCm39) |
missense |
probably damaging |
1.00 |
R3609:Ces1c
|
UTSW |
8 |
93,846,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R4131:Ces1c
|
UTSW |
8 |
93,827,312 (GRCm39) |
missense |
probably damaging |
1.00 |
R4633:Ces1c
|
UTSW |
8 |
93,845,014 (GRCm39) |
missense |
probably benign |
0.00 |
R4988:Ces1c
|
UTSW |
8 |
93,827,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R5081:Ces1c
|
UTSW |
8 |
93,854,197 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Ces1c
|
UTSW |
8 |
93,857,343 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5586:Ces1c
|
UTSW |
8 |
93,854,227 (GRCm39) |
missense |
probably benign |
0.00 |
R7013:Ces1c
|
UTSW |
8 |
93,857,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7137:Ces1c
|
UTSW |
8 |
93,857,470 (GRCm39) |
missense |
probably benign |
0.02 |
R7611:Ces1c
|
UTSW |
8 |
93,851,139 (GRCm39) |
missense |
probably benign |
0.00 |
R7882:Ces1c
|
UTSW |
8 |
93,833,231 (GRCm39) |
missense |
probably benign |
|
R8280:Ces1c
|
UTSW |
8 |
93,825,809 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8705:Ces1c
|
UTSW |
8 |
93,857,518 (GRCm39) |
missense |
probably benign |
|
R8752:Ces1c
|
UTSW |
8 |
93,846,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R8896:Ces1c
|
UTSW |
8 |
93,833,254 (GRCm39) |
missense |
probably benign |
|
R9470:Ces1c
|
UTSW |
8 |
93,830,746 (GRCm39) |
critical splice donor site |
probably null |
|
|
Posted On |
2015-04-16 |