Incidental Mutation 'R6470:Ces3b'
| ID |
516480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3b
|
| Ensembl Gene |
ENSMUSG00000062181 |
| Gene Name |
carboxylesterase 3B |
| Synonyms |
Gm4738, ES31L |
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6470 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105810385-105820561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105815285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 12
(Q12L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074403]
[ENSMUST00000093221]
[ENSMUST00000173088]
|
| AlphaFold |
Q8VCU1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074403
AA Change: Q323L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: Q323L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
13 |
436 |
1.8e-127 |
PFAM |
|
Pfam:Abhydrolase_3
|
147 |
303 |
2.8e-13 |
PFAM |
|
Pfam:COesterase
|
423 |
497 |
5.8e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093221
AA Change: Q323L
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: Q323L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
13 |
547 |
9.5e-163 |
PFAM |
|
Pfam:Abhydrolase_3
|
147 |
304 |
2.1e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173088
AA Change: Q12L
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181
AA Change: Q12L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
114 |
2e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173838
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,102,199 (GRCm39) |
D166G |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
| Other mutations in Ces3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Ces3b
|
APN |
8 |
105,818,206 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01324:Ces3b
|
APN |
8 |
105,819,884 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02418:Ces3b
|
APN |
8 |
105,812,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Ces3b
|
APN |
8 |
105,811,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03400:Ces3b
|
APN |
8 |
105,819,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Ces3b
|
UTSW |
8 |
105,819,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0282:Ces3b
|
UTSW |
8 |
105,810,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0800:Ces3b
|
UTSW |
8 |
105,811,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1833:Ces3b
|
UTSW |
8 |
105,812,271 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2130:Ces3b
|
UTSW |
8 |
105,819,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3790:Ces3b
|
UTSW |
8 |
105,813,520 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4827:Ces3b
|
UTSW |
8 |
105,813,527 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5411:Ces3b
|
UTSW |
8 |
105,815,264 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5790:Ces3b
|
UTSW |
8 |
105,819,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5798:Ces3b
|
UTSW |
8 |
105,815,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5929:Ces3b
|
UTSW |
8 |
105,819,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Ces3b
|
UTSW |
8 |
105,819,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Ces3b
|
UTSW |
8 |
105,819,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7828:Ces3b
|
UTSW |
8 |
105,813,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7856:Ces3b
|
UTSW |
8 |
105,819,894 (GRCm39) |
makesense |
probably null |
|
|
R8162:Ces3b
|
UTSW |
8 |
105,817,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8924:Ces3b
|
UTSW |
8 |
105,811,619 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9369:Ces3b
|
UTSW |
8 |
105,813,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9381:Ces3b
|
UTSW |
8 |
105,811,670 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9651:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9653:Ces3b
|
UTSW |
8 |
105,812,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ces3b
|
UTSW |
8 |
105,811,715 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCAGTGTTTGCTGCAGAAG -3'
(R):5'- GCTTCCTCACCTACCAAAATGG -3'
Sequencing Primer
(F):5'- TGTTTGCTGCAGAAGGAAGG -3'
(R):5'- CCAAAATGGGAATGACCTGAGTGTTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation