Incidental Mutation 'R6662:Ces1b'
| ID |
528023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1b
|
| Ensembl Gene |
ENSMUSG00000078964 |
| Gene Name |
carboxylesterase 1B |
| Synonyms |
Gm5158 |
| MMRRC Submission |
044782-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R6662 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93056728-93080017 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93064069 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 364
(L364S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
| AlphaFold |
D3Z5G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109582
AA Change: L364S
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: L364S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
547 |
7.6e-168 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
245 |
8.5e-11 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (46/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
A |
G |
19: 57,073,853 (GRCm38) |
|
probably null |
Het |
| Acox1 |
A |
G |
11: 116,175,323 (GRCm38) |
Y418H |
probably damaging |
Het |
| Akr1b3 |
C |
T |
6: 34,310,004 (GRCm38) |
V206M |
possibly damaging |
Het |
| Aldh3a1 |
G |
A |
11: 61,214,655 (GRCm38) |
V196I |
probably benign |
Het |
| Aox3 |
A |
G |
1: 58,118,615 (GRCm38) |
K44E |
probably damaging |
Het |
| Bad |
T |
A |
19: 6,951,070 (GRCm38) |
|
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,226,339 (GRCm38) |
Q60K |
possibly damaging |
Het |
| Casp6 |
A |
G |
3: 129,912,226 (GRCm38) |
T181A |
probably benign |
Het |
| Catsperg2 |
G |
A |
7: 29,719,513 (GRCm38) |
|
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,690,794 (GRCm38) |
L46P |
probably damaging |
Het |
| Cfap45 |
T |
C |
1: 172,529,850 (GRCm38) |
I15T |
probably benign |
Het |
| D730048I06Rik |
C |
A |
9: 35,790,000 (GRCm38) |
R6M |
possibly damaging |
Het |
| Dph5 |
G |
A |
3: 115,928,556 (GRCm38) |
E228K |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,956,821 (GRCm38) |
L2023F |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,148,247 (GRCm38) |
N351D |
probably benign |
Het |
| Gm14124 |
G |
A |
2: 150,266,252 (GRCm38) |
|
probably null |
Het |
| Grm2 |
C |
T |
9: 106,648,053 (GRCm38) |
A488T |
probably benign |
Het |
| Ifit3b |
A |
G |
19: 34,611,937 (GRCm38) |
E171G |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,336,875 (GRCm38) |
|
probably null |
Het |
| Itih5 |
A |
T |
2: 10,249,181 (GRCm38) |
I748F |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,007,611 (GRCm38) |
D520Y |
probably damaging |
Het |
| Mgat5 |
C |
A |
1: 127,469,237 (GRCm38) |
H574N |
probably damaging |
Het |
| Moxd1 |
A |
C |
10: 24,284,760 (GRCm38) |
D437A |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,506,166 (GRCm38) |
F888L |
probably benign |
Het |
| Ncs1 |
T |
A |
2: 31,287,360 (GRCm38) |
L183Q |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 85,663,215 (GRCm38) |
D206E |
probably damaging |
Het |
| Omp |
A |
G |
7: 98,145,339 (GRCm38) |
L27P |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,287 (GRCm38) |
S161P |
probably benign |
Het |
| Pde4b |
A |
G |
4: 102,601,898 (GRCm38) |
I381M |
possibly damaging |
Het |
| Pramel5 |
A |
T |
4: 144,273,105 (GRCm38) |
N137K |
probably benign |
Het |
| Prss33 |
T |
C |
17: 23,833,960 (GRCm38) |
S247G |
probably damaging |
Het |
| Rassf9 |
T |
A |
10: 102,546,038 (GRCm38) |
L425Q |
possibly damaging |
Het |
| Setx |
A |
T |
2: 29,158,114 (GRCm38) |
D1909V |
probably damaging |
Het |
| Slc26a3 |
A |
T |
12: 31,457,346 (GRCm38) |
K402* |
probably null |
Het |
| Slco1a6 |
G |
A |
6: 142,133,215 (GRCm38) |
T118I |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,128,416 (GRCm38) |
L6769P |
probably damaging |
Het |
| Tas2r107 |
A |
T |
6: 131,659,489 (GRCm38) |
V199D |
possibly damaging |
Het |
| Tchp |
A |
G |
5: 114,720,015 (GRCm38) |
|
probably null |
Het |
| Trdn |
A |
T |
10: 33,474,487 (GRCm38) |
N684I |
probably damaging |
Het |
| Trio |
G |
T |
15: 27,854,996 (GRCm38) |
T700K |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,755,898 (GRCm38) |
V20084I |
probably benign |
Het |
| Ubl3 |
A |
T |
5: 148,509,306 (GRCm38) |
Y62* |
probably null |
Het |
| Uckl1 |
A |
G |
2: 181,573,260 (GRCm38) |
Y267H |
possibly damaging |
Het |
| Zfp786 |
T |
C |
6: 47,826,986 (GRCm38) |
N41D |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,662,085 (GRCm38) |
S310P |
probably damaging |
Het |
|
| Other mutations in Ces1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Ces1b
|
APN |
8 |
93,071,994 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01939:Ces1b
|
APN |
8 |
93,079,431 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02314:Ces1b
|
APN |
8 |
93,064,896 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02338:Ces1b
|
APN |
8 |
93,057,047 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
IGL02647:Ces1b
|
APN |
8 |
93,057,044 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02833:Ces1b
|
APN |
8 |
93,079,410 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03038:Ces1b
|
APN |
8 |
93,067,052 (GRCm38) |
missense |
probably benign |
|
|
IGL03149:Ces1b
|
APN |
8 |
93,064,874 (GRCm38) |
splice site |
probably benign |
|
|
FR4548:Ces1b
|
UTSW |
8 |
93,068,092 (GRCm38) |
missense |
probably null |
|
|
IGL02802:Ces1b
|
UTSW |
8 |
93,056,966 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R0382:Ces1b
|
UTSW |
8 |
93,076,052 (GRCm38) |
splice site |
probably benign |
|
|
R0893:Ces1b
|
UTSW |
8 |
93,079,428 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0959:Ces1b
|
UTSW |
8 |
93,068,147 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1386:Ces1b
|
UTSW |
8 |
93,068,077 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1440:Ces1b
|
UTSW |
8 |
93,068,108 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1667:Ces1b
|
UTSW |
8 |
93,056,904 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R2113:Ces1b
|
UTSW |
8 |
93,068,155 (GRCm38) |
missense |
probably benign |
|
|
R2193:Ces1b
|
UTSW |
8 |
93,079,877 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2508:Ces1b
|
UTSW |
8 |
93,073,341 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4656:Ces1b
|
UTSW |
8 |
93,057,414 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4776:Ces1b
|
UTSW |
8 |
93,063,030 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5108:Ces1b
|
UTSW |
8 |
93,071,913 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5117:Ces1b
|
UTSW |
8 |
93,073,209 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5308:Ces1b
|
UTSW |
8 |
93,067,017 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5381:Ces1b
|
UTSW |
8 |
93,065,019 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5392:Ces1b
|
UTSW |
8 |
93,071,962 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5614:Ces1b
|
UTSW |
8 |
93,068,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5816:Ces1b
|
UTSW |
8 |
93,073,262 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6554:Ces1b
|
UTSW |
8 |
93,064,991 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6576:Ces1b
|
UTSW |
8 |
93,056,919 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6601:Ces1b
|
UTSW |
8 |
93,079,481 (GRCm38) |
missense |
probably benign |
|
|
R6753:Ces1b
|
UTSW |
8 |
93,067,020 (GRCm38) |
nonsense |
probably null |
|
|
R6904:Ces1b
|
UTSW |
8 |
93,060,410 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7267:Ces1b
|
UTSW |
8 |
93,079,504 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R7371:Ces1b
|
UTSW |
8 |
93,057,354 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7396:Ces1b
|
UTSW |
8 |
93,063,129 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7992:Ces1b
|
UTSW |
8 |
93,060,359 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8022:Ces1b
|
UTSW |
8 |
93,069,315 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8728:Ces1b
|
UTSW |
8 |
93,071,948 (GRCm38) |
missense |
probably benign |
|
|
R8809:Ces1b
|
UTSW |
8 |
93,060,321 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8809:Ces1b
|
UTSW |
8 |
93,060,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9268:Ces1b
|
UTSW |
8 |
93,071,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9476:Ces1b
|
UTSW |
8 |
93,073,262 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R9638:Ces1b
|
UTSW |
8 |
93,079,906 (GRCm38) |
missense |
probably benign |
|
|
R9667:Ces1b
|
UTSW |
8 |
93,065,009 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9745:Ces1b
|
UTSW |
8 |
93,063,997 (GRCm38) |
missense |
probably benign |
|
|
R9757:Ces1b
|
UTSW |
8 |
93,079,873 (GRCm38) |
missense |
probably benign |
0.02 |
|
X0024:Ces1b
|
UTSW |
8 |
93,063,017 (GRCm38) |
missense |
probably benign |
|
|
Z1088:Ces1b
|
UTSW |
8 |
93,064,966 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1177:Ces1b
|
UTSW |
8 |
93,076,154 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAATGGGAGAGGCACCCC -3'
(R):5'- TCACATGACTGTCTTCTCTGTATGG -3'
Sequencing Primer
(F):5'- CAGTCACCACCATTGTTTGCAG -3'
(R):5'- GACTGTCTTCTCTGTATGGCTTAGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation