Incidental Mutation 'R6950:Ces5a'
| ID |
541217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces5a
|
| Ensembl Gene |
ENSMUSG00000058019 |
| Gene Name |
carboxylesterase 5A |
| Synonyms |
1700122C07Rik, Ces7, cauxin, LOC244598, 1700081L16Rik |
| MMRRC Submission |
045062-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94225692-94262458 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 94257402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 134
(N134K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077816]
[ENSMUST00000212009]
[ENSMUST00000212722]
|
| AlphaFold |
Q6AW46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077816
AA Change: N134K
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000076988
Gene: ENSMUSG00000058019
AA Change: N134K
| 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 |
probably benign
Transcript: ENSMUST00000212009
AA Change: N134K
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212722
AA Change: N138K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.4%
|
| Validation Efficiency |
98% (59/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,229,480 (GRCm39) |
V404D |
probably damaging |
Het |
| Adcy2 |
A |
G |
13: 69,036,184 (GRCm39) |
M159T |
possibly damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,598,080 (GRCm39) |
K674R |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,095,511 (GRCm38) |
P403H |
probably damaging |
Het |
| Cav3 |
C |
T |
6: 112,449,171 (GRCm39) |
T63I |
probably damaging |
Het |
| Ccr6 |
T |
C |
17: 8,475,898 (GRCm39) |
*368Q |
probably null |
Het |
| Cdh8 |
A |
T |
8: 99,757,395 (GRCm39) |
N734K |
probably benign |
Het |
| Cisd3 |
T |
G |
11: 97,576,986 (GRCm39) |
|
probably null |
Het |
| Cyp4f39 |
T |
G |
17: 32,711,280 (GRCm39) |
C476G |
probably damaging |
Het |
| Dffb |
A |
T |
4: 154,054,549 (GRCm39) |
M180K |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,783,313 (GRCm39) |
E749G |
possibly damaging |
Het |
| Eogt |
A |
G |
6: 97,111,343 (GRCm39) |
F173L |
possibly damaging |
Het |
| Ephb1 |
T |
A |
9: 102,072,108 (GRCm39) |
T224S |
probably benign |
Het |
| Fam114a1 |
A |
T |
5: 65,137,322 (GRCm39) |
E88D |
possibly damaging |
Het |
| Fbn2 |
A |
C |
18: 58,168,993 (GRCm39) |
M2262R |
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,816,332 (GRCm39) |
I4022V |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,574,257 (GRCm39) |
V1301A |
probably benign |
Het |
| Gch1 |
A |
T |
14: 47,426,723 (GRCm39) |
M1K |
probably null |
Het |
| Hes1 |
T |
C |
16: 29,886,089 (GRCm39) |
F231S |
probably damaging |
Het |
| Hoxb2 |
A |
G |
11: 96,242,727 (GRCm39) |
T31A |
probably benign |
Het |
| Ifngr1 |
T |
A |
10: 19,483,041 (GRCm39) |
V265D |
probably damaging |
Het |
| Ifnl3 |
A |
T |
7: 28,222,432 (GRCm39) |
I58F |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,937,605 (GRCm39) |
T561A |
probably benign |
Het |
| Igfbpl1 |
T |
A |
4: 45,815,494 (GRCm39) |
H214L |
probably damaging |
Het |
| Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,737,901 (GRCm39) |
|
probably benign |
Het |
| Lratd2 |
T |
C |
15: 60,695,563 (GRCm39) |
D61G |
probably benign |
Het |
| Lrrc36 |
G |
T |
8: 106,152,021 (GRCm39) |
|
probably null |
Het |
| Msl2 |
C |
T |
9: 100,979,174 (GRCm39) |
P516L |
possibly damaging |
Het |
| Naaladl1 |
A |
T |
19: 6,156,011 (GRCm39) |
I62F |
probably damaging |
Het |
| Neto2 |
G |
T |
8: 86,397,072 (GRCm39) |
P60Q |
probably damaging |
Het |
| Nipsnap3b |
A |
T |
4: 53,015,136 (GRCm39) |
H61L |
possibly damaging |
Het |
| Npb |
T |
C |
11: 120,499,473 (GRCm39) |
F47L |
probably benign |
Het |
| Nutm1 |
T |
A |
2: 112,078,904 (GRCm39) |
T1004S |
probably benign |
Het |
| Or4a78 |
T |
A |
2: 89,497,895 (GRCm39) |
I112F |
probably benign |
Het |
| Or4z4 |
A |
G |
19: 12,076,754 (GRCm39) |
V83A |
probably benign |
Het |
| Or8c17 |
A |
T |
9: 38,179,842 (GRCm39) |
N3I |
probably damaging |
Het |
| Oxr1 |
C |
A |
15: 41,683,951 (GRCm39) |
A439E |
probably benign |
Het |
| Phf14 |
A |
T |
6: 12,006,854 (GRCm39) |
K835N |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,633,850 (GRCm39) |
V3518E |
probably damaging |
Het |
| Ptpru |
T |
A |
4: 131,503,663 (GRCm39) |
E1132D |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,567,206 (GRCm39) |
M1129K |
probably benign |
Het |
| Rgmb |
T |
C |
17: 16,028,048 (GRCm39) |
K224E |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,517,170 (GRCm39) |
I3318V |
possibly damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,642,045 (GRCm39) |
Y338C |
probably damaging |
Het |
| Smg5 |
T |
C |
3: 88,256,576 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
A |
T |
8: 48,693,514 (GRCm39) |
Y1789* |
probably null |
Het |
| Tgm7 |
T |
C |
2: 120,924,128 (GRCm39) |
E598G |
probably damaging |
Het |
| Tiam1 |
C |
T |
16: 89,657,092 (GRCm39) |
|
probably null |
Het |
| Tmem175 |
A |
G |
5: 108,790,948 (GRCm39) |
N166S |
probably benign |
Het |
| Trp73 |
G |
T |
4: 154,146,510 (GRCm39) |
N368K |
probably benign |
Het |
| Trpc3 |
C |
T |
3: 36,692,739 (GRCm39) |
R751H |
probably damaging |
Het |
| Trpm4 |
C |
A |
7: 44,968,704 (GRCm39) |
A410S |
probably damaging |
Het |
| Ube2t |
T |
G |
1: 134,899,095 (GRCm39) |
|
probably null |
Het |
| Vmn2r114 |
C |
T |
17: 23,529,137 (GRCm39) |
A322T |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,558,455 (GRCm39) |
R567H |
probably benign |
Het |
| Zfp119b |
T |
C |
17: 56,246,137 (GRCm39) |
K318E |
probably damaging |
Het |
| Zfp626 |
T |
G |
7: 27,518,339 (GRCm39) |
L440R |
probably damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,939 (GRCm39) |
S90P |
possibly damaging |
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 |
|
R5419:Ces5a
|
UTSW |
8 |
94,226,059 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
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'- ACAATGACAGAGGACAGCTTC -3'
(R):5'- GAAGGCATGCTGACAGATGC -3'
Sequencing Primer
(F):5'- CTGCTCTACAAAGTGAGTTCCAGG -3'
(R):5'- CTGACAGATGCGGAGAGAGTAATTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation