Incidental Mutation 'R9638:Ces1b'
| ID |
725830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1b
|
| Ensembl Gene |
ENSMUSG00000078964 |
| Gene Name |
carboxylesterase 1B |
| Synonyms |
Gm5158 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9638 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
93783356-93806645 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 93806534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 4
(H4L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105210
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109582]
|
| AlphaFold |
D3Z5G7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109582
AA Change: H4L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105210
Gene: ENSMUSG00000078964
AA Change: H4L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
547 |
7.6e-168 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
245 |
8.5e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
G |
4: 53,092,806 (GRCm39) |
E326A |
probably damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,614,100 (GRCm39) |
N423K |
probably benign |
Het |
| Aldh4a1 |
T |
A |
4: 139,371,427 (GRCm39) |
I447N |
probably damaging |
Het |
| Atg9b |
T |
C |
5: 24,596,406 (GRCm39) |
D170G |
possibly damaging |
Het |
| Bnc2 |
C |
T |
4: 84,332,492 (GRCm39) |
V75M |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccdc162 |
C |
A |
10: 41,437,159 (GRCm39) |
C1750F |
probably benign |
Het |
| Cdh10 |
T |
A |
15: 18,964,301 (GRCm39) |
N154K |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,988,687 (GRCm39) |
I223V |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,209,763 (GRCm39) |
F1806I |
unknown |
Het |
| Cwh43 |
T |
A |
5: 73,565,486 (GRCm39) |
V17D |
possibly damaging |
Het |
| Ddx3y |
C |
T |
Y: 1,263,599 (GRCm39) |
G623D |
probably benign |
Het |
| Dtna |
A |
T |
18: 23,744,122 (GRCm39) |
I389L |
probably benign |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,956 (GRCm39) |
D13G |
probably benign |
Het |
| Fam161b |
T |
C |
12: 84,403,187 (GRCm39) |
I148V |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,568,391 (GRCm39) |
N1043Y |
probably damaging |
Het |
| Fli1 |
T |
C |
9: 32,388,020 (GRCm39) |
Y23C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,679,424 (GRCm39) |
V204A |
probably benign |
Het |
| Ighv4-1 |
T |
G |
12: 113,911,904 (GRCm39) |
R116S |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,619,566 (GRCm39) |
L239P |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Krt81 |
T |
C |
15: 101,358,856 (GRCm39) |
T299A |
probably benign |
Het |
| Lrrc30 |
A |
G |
17: 67,939,226 (GRCm39) |
L118P |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,118,023 (GRCm39) |
T1290A |
probably benign |
Het |
| Mef2b |
ACCCTCACCC |
ACC |
8: 70,619,506 (GRCm39) |
|
probably null |
Het |
| Meltf |
G |
A |
16: 31,706,409 (GRCm39) |
E298K |
possibly damaging |
Het |
| Muc16 |
T |
A |
9: 18,550,626 (GRCm39) |
E5222D |
probably benign |
Het |
| Nin |
T |
C |
12: 70,067,618 (GRCm39) |
N2003S |
|
Het |
| Or1e23 |
A |
G |
11: 73,407,875 (GRCm39) |
I50T |
probably benign |
Het |
| Or2b4 |
G |
A |
17: 38,116,509 (GRCm39) |
V158M |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,018 (GRCm39) |
L171P |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,788 (GRCm39) |
V826A |
unknown |
Het |
| Paxbp1 |
C |
A |
16: 90,831,881 (GRCm39) |
V336L |
probably benign |
Het |
| Paxbp1 |
T |
A |
16: 90,831,882 (GRCm39) |
E335D |
probably benign |
Het |
| Por |
C |
A |
5: 135,754,615 (GRCm39) |
Q12K |
unknown |
Het |
| Pot1a |
G |
A |
6: 25,750,106 (GRCm39) |
Q519* |
probably null |
Het |
| Psd |
GCC |
GC |
19: 46,301,841 (GRCm39) |
|
probably null |
Het |
| Ptger4 |
A |
G |
15: 5,264,693 (GRCm39) |
F321S |
probably damaging |
Het |
| Ptk7 |
A |
G |
17: 46,890,519 (GRCm39) |
Y438H |
possibly damaging |
Het |
| Rimklb |
A |
T |
6: 122,433,558 (GRCm39) |
N254K |
probably benign |
Het |
| Rpn2 |
A |
T |
2: 157,125,566 (GRCm39) |
T26S |
probably benign |
Het |
| Rtn4rl2 |
A |
T |
2: 84,710,760 (GRCm39) |
L168H |
probably damaging |
Het |
| Scel |
G |
T |
14: 103,779,409 (GRCm39) |
A127S |
possibly damaging |
Het |
| Sema4a |
T |
A |
3: 88,357,066 (GRCm39) |
N302Y |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,234,133 (GRCm39) |
T50A |
possibly damaging |
Het |
| Upf3a |
G |
A |
8: 13,848,343 (GRCm39) |
A380T |
probably benign |
Het |
| Zbtb14 |
G |
A |
17: 69,695,375 (GRCm39) |
E358K |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,056 (GRCm39) |
H371L |
probably damaging |
Het |
|
| Other mutations in Ces1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01406:Ces1b
|
APN |
8 |
93,798,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01939:Ces1b
|
APN |
8 |
93,806,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02314:Ces1b
|
APN |
8 |
93,791,524 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02338:Ces1b
|
APN |
8 |
93,783,675 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02647:Ces1b
|
APN |
8 |
93,783,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02833:Ces1b
|
APN |
8 |
93,806,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03038:Ces1b
|
APN |
8 |
93,793,680 (GRCm39) |
missense |
probably benign |
|
|
IGL03149:Ces1b
|
APN |
8 |
93,791,502 (GRCm39) |
splice site |
probably benign |
|
|
FR4548:Ces1b
|
UTSW |
8 |
93,794,720 (GRCm39) |
missense |
probably null |
|
|
IGL02802:Ces1b
|
UTSW |
8 |
93,783,594 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0382:Ces1b
|
UTSW |
8 |
93,802,680 (GRCm39) |
splice site |
probably benign |
|
|
R0893:Ces1b
|
UTSW |
8 |
93,806,056 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0959:Ces1b
|
UTSW |
8 |
93,794,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1386:Ces1b
|
UTSW |
8 |
93,794,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1440:Ces1b
|
UTSW |
8 |
93,794,736 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1667:Ces1b
|
UTSW |
8 |
93,783,532 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2113:Ces1b
|
UTSW |
8 |
93,794,783 (GRCm39) |
missense |
probably benign |
|
|
R2193:Ces1b
|
UTSW |
8 |
93,806,505 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2508:Ces1b
|
UTSW |
8 |
93,799,969 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4656:Ces1b
|
UTSW |
8 |
93,784,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4776:Ces1b
|
UTSW |
8 |
93,789,658 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5108:Ces1b
|
UTSW |
8 |
93,798,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Ces1b
|
UTSW |
8 |
93,799,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5308:Ces1b
|
UTSW |
8 |
93,793,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Ces1b
|
UTSW |
8 |
93,791,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5392:Ces1b
|
UTSW |
8 |
93,798,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5614:Ces1b
|
UTSW |
8 |
93,794,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5816:Ces1b
|
UTSW |
8 |
93,799,890 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6554:Ces1b
|
UTSW |
8 |
93,791,619 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6576:Ces1b
|
UTSW |
8 |
93,783,547 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6601:Ces1b
|
UTSW |
8 |
93,806,109 (GRCm39) |
missense |
probably benign |
|
|
R6662:Ces1b
|
UTSW |
8 |
93,790,697 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6753:Ces1b
|
UTSW |
8 |
93,793,648 (GRCm39) |
nonsense |
probably null |
|
|
R6904:Ces1b
|
UTSW |
8 |
93,787,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7267:Ces1b
|
UTSW |
8 |
93,806,132 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7371:Ces1b
|
UTSW |
8 |
93,783,982 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7396:Ces1b
|
UTSW |
8 |
93,789,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7992:Ces1b
|
UTSW |
8 |
93,786,987 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8022:Ces1b
|
UTSW |
8 |
93,795,943 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8728:Ces1b
|
UTSW |
8 |
93,798,576 (GRCm39) |
missense |
probably benign |
|
|
R8809:Ces1b
|
UTSW |
8 |
93,786,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8809:Ces1b
|
UTSW |
8 |
93,786,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9268:Ces1b
|
UTSW |
8 |
93,798,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Ces1b
|
UTSW |
8 |
93,799,890 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9667:Ces1b
|
UTSW |
8 |
93,791,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9745:Ces1b
|
UTSW |
8 |
93,790,625 (GRCm39) |
missense |
probably benign |
|
|
R9757:Ces1b
|
UTSW |
8 |
93,806,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0024:Ces1b
|
UTSW |
8 |
93,789,645 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Ces1b
|
UTSW |
8 |
93,791,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Ces1b
|
UTSW |
8 |
93,802,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTCCCAACATTAAAGAGAGGG -3'
(R):5'- AAACTCGTAGTGGGTGTGGC -3'
Sequencing Primer
(F):5'- TGGAGGTATAAATGTCGCCCATC -3'
(R):5'- TGGCTTGGAGGTCCTAACAAATACC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation