Incidental Mutation 'R7856:Ces3b'
| ID |
607239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces3b
|
| Ensembl Gene |
ENSMUSG00000062181 |
| Gene Name |
carboxylesterase 3B |
| Synonyms |
Gm4738, ES31L |
| MMRRC Submission |
045909-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R7856 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105810385-105820561 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 105819894 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 572
(*572W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074403]
[ENSMUST00000093221]
[ENSMUST00000173088]
|
| AlphaFold |
Q8VCU1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000074403
AA Change: *522W
|
| SMART Domains |
Protein: ENSMUSP00000074004
Gene: ENSMUSG00000062181
AA Change: *522W
| 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 |
probably null
Transcript: ENSMUST00000093221
AA Change: *572W
|
| SMART Domains |
Protein: ENSMUSP00000090909
Gene: ENSMUSG00000062181
AA Change: *572W
| 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 |
probably benign
Transcript: ENSMUST00000173088
|
| SMART Domains |
Protein: ENSMUSP00000134204
Gene: ENSMUSG00000062181
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
114 |
2e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.8614 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna1h |
T |
C |
17: 25,608,451 (GRCm39) |
T819A |
probably damaging |
Het |
| Ccdc34 |
T |
A |
2: 109,874,572 (GRCm39) |
Y310* |
probably null |
Het |
| Ccdc63 |
A |
G |
5: 122,268,006 (GRCm39) |
W8R |
probably benign |
Het |
| Ces2g |
G |
A |
8: 105,693,014 (GRCm39) |
V351I |
not run |
Het |
| Dgka |
T |
C |
10: 128,572,533 (GRCm39) |
N40S |
probably benign |
Het |
| Dnajc13 |
C |
A |
9: 104,044,684 (GRCm39) |
R1835L |
possibly damaging |
Het |
| Dusp7 |
C |
A |
9: 106,246,067 (GRCm39) |
A24E |
unknown |
Het |
| Ep400 |
T |
A |
5: 110,814,450 (GRCm39) |
T2931S |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,395 (GRCm39) |
L365Q |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,748,342 (GRCm39) |
T249M |
probably benign |
Het |
| Hook3 |
T |
C |
8: 26,525,249 (GRCm39) |
D619G |
probably damaging |
Het |
| Itsn1 |
T |
A |
16: 91,705,375 (GRCm39) |
|
probably null |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Mx1 |
A |
G |
16: 97,256,735 (GRCm39) |
I148T |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,640 (GRCm39) |
N173K |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,272,885 (GRCm39) |
E68G |
probably damaging |
Het |
| Orc3 |
T |
C |
4: 34,585,647 (GRCm39) |
I416V |
probably benign |
Het |
| Plcxd3 |
A |
T |
15: 4,546,581 (GRCm39) |
Y195F |
probably damaging |
Het |
| Ppp1r3a |
A |
T |
6: 14,718,025 (GRCm39) |
I963N |
probably benign |
Het |
| Ppp1r7 |
A |
G |
1: 93,278,068 (GRCm39) |
D69G |
possibly damaging |
Het |
| Rars1 |
A |
G |
11: 35,699,412 (GRCm39) |
V627A |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,472 (GRCm39) |
S973P |
probably benign |
Het |
| Slc22a28 |
T |
C |
19: 8,040,698 (GRCm39) |
T518A |
probably damaging |
Het |
| Slc4a9 |
C |
T |
18: 36,661,751 (GRCm39) |
H92Y |
probably benign |
Het |
| Son |
A |
G |
16: 91,456,146 (GRCm39) |
D1631G |
probably damaging |
Het |
| Stat5a |
T |
C |
11: 100,774,728 (GRCm39) |
W746R |
unknown |
Het |
| Thsd4 |
A |
T |
9: 59,910,144 (GRCm39) |
L508Q |
probably damaging |
Het |
| Tlx1 |
C |
T |
19: 45,144,427 (GRCm39) |
Q292* |
probably null |
Het |
| Ttc34 |
T |
C |
4: 154,945,743 (GRCm39) |
V259A |
probably benign |
Het |
| Xrn2 |
T |
G |
2: 146,910,393 (GRCm39) |
|
probably null |
Het |
| Yif1b |
A |
G |
7: 28,944,045 (GRCm39) |
D137G |
possibly damaging |
Het |
| Zfp850 |
A |
G |
7: 27,689,899 (GRCm39) |
I103T |
probably benign |
Het |
| Zfp937 |
T |
C |
2: 150,081,467 (GRCm39) |
V499A |
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 |
|
R6470:Ces3b
|
UTSW |
8 |
105,815,285 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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'- TCCTTGGCCCCAATTAAACC -3'
(R):5'- AGGGTTCAAGTCACTTTAGGAAG -3'
Sequencing Primer
(F):5'- TTGGCCCCAATTAAACCAGTTAG -3'
(R):5'- TCAAGTCACTTTAGGAAGAAACAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation