Incidental Mutation 'R6620:Ces1e'
| ID |
528131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1e
|
| Ensembl Gene |
ENSMUSG00000061959 |
| Gene Name |
carboxylesterase 1E |
| Synonyms |
Es22, egasyn, Eg, Es-22 |
| MMRRC Submission |
044743-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93927846-93956233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93950546 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 79
(K79N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034173
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034173]
[ENSMUST00000176282]
|
| AlphaFold |
Q64176 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034173
AA Change: K79N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034173
Gene: ENSMUSG00000061959
AA Change: K79N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
546 |
1.7e-174 |
PFAM |
|
Pfam:Abhydrolase_3
|
137 |
282 |
5.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175983
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176282
AA Change: K78N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135636
Gene: ENSMUSG00000061959
AA Change: K78N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
8.9e-166 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
292 |
2.7e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a spontaneous mutation lack stable microsomal beta-glucuronidase and display altered processing of lysosomal beta-glucuronidase in liver. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
| Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
| Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
| Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
| F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
| Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
| Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
| Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
| Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
| Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
| Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
| Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
| Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
| Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
| Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,581 (GRCm39) |
I21T |
probably benign |
Het |
| Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
| Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
| Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
| Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
| Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
| Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
| Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
| Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
| Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
probably benign |
Het |
|
| Other mutations in Ces1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00900:Ces1e
|
APN |
8 |
93,944,245 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01358:Ces1e
|
APN |
8 |
93,940,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01597:Ces1e
|
APN |
8 |
93,937,001 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01875:Ces1e
|
APN |
8 |
93,950,524 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02244:Ces1e
|
APN |
8 |
93,938,977 (GRCm39) |
splice site |
probably null |
|
|
IGL03260:Ces1e
|
APN |
8 |
93,950,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03302:Ces1e
|
APN |
8 |
93,950,521 (GRCm39) |
critical splice donor site |
probably null |
|
|
chaingun
|
UTSW |
8 |
93,950,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Chomper
|
UTSW |
8 |
93,928,467 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4651001:Ces1e
|
UTSW |
8 |
93,941,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0158:Ces1e
|
UTSW |
8 |
93,946,057 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0317:Ces1e
|
UTSW |
8 |
93,950,667 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0530:Ces1e
|
UTSW |
8 |
93,946,149 (GRCm39) |
splice site |
probably benign |
|
|
R0626:Ces1e
|
UTSW |
8 |
93,950,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3013:Ces1e
|
UTSW |
8 |
93,929,915 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3815:Ces1e
|
UTSW |
8 |
93,928,467 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4810:Ces1e
|
UTSW |
8 |
93,935,259 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4883:Ces1e
|
UTSW |
8 |
93,950,716 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5155:Ces1e
|
UTSW |
8 |
93,928,034 (GRCm39) |
makesense |
probably null |
|
|
R5262:Ces1e
|
UTSW |
8 |
93,950,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5287:Ces1e
|
UTSW |
8 |
93,935,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5403:Ces1e
|
UTSW |
8 |
93,935,240 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5410:Ces1e
|
UTSW |
8 |
93,937,070 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5813:Ces1e
|
UTSW |
8 |
93,948,305 (GRCm39) |
nonsense |
probably null |
|
|
R5891:Ces1e
|
UTSW |
8 |
93,929,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5966:Ces1e
|
UTSW |
8 |
93,946,001 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6199:Ces1e
|
UTSW |
8 |
93,944,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6381:Ces1e
|
UTSW |
8 |
93,944,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6753:Ces1e
|
UTSW |
8 |
93,941,756 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7180:Ces1e
|
UTSW |
8 |
93,941,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7393:Ces1e
|
UTSW |
8 |
93,937,045 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7421:Ces1e
|
UTSW |
8 |
93,941,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8296:Ces1e
|
UTSW |
8 |
93,929,947 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8901:Ces1e
|
UTSW |
8 |
93,937,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9766:Ces1e
|
UTSW |
8 |
93,946,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0014:Ces1e
|
UTSW |
8 |
93,929,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ces1e
|
UTSW |
8 |
93,937,046 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGACCTGGAACTTGGG -3'
(R):5'- CTGATGTGCCCTGATGTGTC -3'
Sequencing Primer
(F):5'- AACTTGGGGGCACTGAAGTCC -3'
(R):5'- TCCAGCAGGACATCCATCCTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation