Incidental Mutation 'R5419:Ces5a'
| ID |
427927 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces5a
|
| Ensembl Gene |
ENSMUSG00000058019 |
| Gene Name |
carboxylesterase 5A |
| Synonyms |
1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik |
| MMRRC Submission |
042987-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5419 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94225692-94262458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94226059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 559
(S559T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077816]
[ENSMUST00000212009]
|
| AlphaFold |
Q6AW46 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000077816
AA Change: S559T
|
| SMART Domains |
Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: S559T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
10 |
539 |
3.2e-157 |
PFAM |
|
Pfam:Abhydrolase_3
|
141 |
238 |
9.5e-7 |
PFAM |
|
low complexity region
|
552 |
575 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000080391
|
| SMART Domains |
Protein: ENSMUSP00000079254
Gene: ENSMUSG00000058019
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
83 |
208 |
2.3e-23 |
PFAM |
|
low complexity region
|
221 |
244 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000212009
AA Change: S559T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212407
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212690
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They also participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This gene, also called CES5, is predominantly expressed in peripheral tissues, including brain, kidney, lung and testis. It encodes a secreted enzyme. Because of high levels in the urine of male domestic cats, this enzyme is also called cauxin (carboxylesterase-like urinary excreted protein). The enzyme functions in regulating the production of a pheromone precursor and may contribute to lipid and cholesterol transfer processes within male reproductive fluids. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
| Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
| Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
| Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
| Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
| Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
| Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
| Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
| Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
| Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
| Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
| Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
| Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
| Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
| Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
| Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
| Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
| Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
| Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
| Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
| Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
| Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
| Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
| Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
| Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
| Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
| Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
| Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
| Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
| Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
| Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
| Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
| Shoc1 |
A |
T |
4: 59,049,017 (GRCm39) |
M1116K |
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
| Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
| Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
| Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
| Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
| Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
| Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
| Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
| Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
probably benign |
Het |
|
| Other mutations in Ces5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Ces5a
|
APN |
8 |
94,252,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01520:Ces5a
|
APN |
8 |
94,246,206 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01674:Ces5a
|
APN |
8 |
94,228,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Ces5a
|
APN |
8 |
94,252,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02456:Ces5a
|
APN |
8 |
94,255,272 (GRCm39) |
splice site |
probably benign |
|
|
IGL03027:Ces5a
|
APN |
8 |
94,249,742 (GRCm39) |
splice site |
probably null |
|
|
IGL03051:Ces5a
|
APN |
8 |
94,255,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03264:Ces5a
|
APN |
8 |
94,228,898 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03290:Ces5a
|
APN |
8 |
94,246,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0115:Ces5a
|
UTSW |
8 |
94,228,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0124:Ces5a
|
UTSW |
8 |
94,255,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0521:Ces5a
|
UTSW |
8 |
94,252,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Ces5a
|
UTSW |
8 |
94,228,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Ces5a
|
UTSW |
8 |
94,228,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Ces5a
|
UTSW |
8 |
94,252,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1843:Ces5a
|
UTSW |
8 |
94,240,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Ces5a
|
UTSW |
8 |
94,261,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Ces5a
|
UTSW |
8 |
94,226,369 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2146:Ces5a
|
UTSW |
8 |
94,261,327 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2973:Ces5a
|
UTSW |
8 |
94,255,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3755:Ces5a
|
UTSW |
8 |
94,255,130 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4755:Ces5a
|
UTSW |
8 |
94,262,305 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5072:Ces5a
|
UTSW |
8 |
94,261,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5278:Ces5a
|
UTSW |
8 |
94,252,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5825:Ces5a
|
UTSW |
8 |
94,252,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Ces5a
|
UTSW |
8 |
94,261,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6925:Ces5a
|
UTSW |
8 |
94,249,685 (GRCm39) |
splice site |
probably null |
|
|
R6950:Ces5a
|
UTSW |
8 |
94,257,402 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7148:Ces5a
|
UTSW |
8 |
94,228,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Ces5a
|
UTSW |
8 |
94,226,154 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7290:Ces5a
|
UTSW |
8 |
94,261,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7459:Ces5a
|
UTSW |
8 |
94,262,369 (GRCm39) |
start gained |
probably benign |
|
|
R7674:Ces5a
|
UTSW |
8 |
94,240,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Ces5a
|
UTSW |
8 |
94,247,623 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8150:Ces5a
|
UTSW |
8 |
94,257,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Ces5a
|
UTSW |
8 |
94,255,249 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9502:Ces5a
|
UTSW |
8 |
94,262,308 (GRCm39) |
nonsense |
probably null |
|
|
R9518:Ces5a
|
UTSW |
8 |
94,257,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9745:Ces5a
|
UTSW |
8 |
94,228,814 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0024:Ces5a
|
UTSW |
8 |
94,240,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATGAGGTTCATCCCTAAGCCC -3'
(R):5'- TGACTGCTCTCACTTCCAGG -3'
Sequencing Primer
(F):5'- GAGGTTCATCCCTAAGCCCATAAAAC -3'
(R):5'- TCACTTCCAGGGATCCTAACGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation