Incidental Mutation 'R1337:Ces2g'
| ID |
156907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2g
|
| Ensembl Gene |
ENSMUSG00000031877 |
| Gene Name |
carboxylesterase 2G |
| Synonyms |
2210023G05Rik |
| MMRRC Submission |
039402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R1337 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
105688350-105696169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 105690597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 126
(Y126F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043183]
[ENSMUST00000212820]
|
| AlphaFold |
E9PV38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043183
AA Change: Y126F
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000049315
Gene: ENSMUSG00000031877
AA Change: Y126F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
11 |
539 |
1.4e-176 |
PFAM |
|
Pfam:Abhydrolase_3
|
144 |
245 |
4.9e-11 |
PFAM |
|
Pfam:Peptidase_S9
|
159 |
331 |
8.1e-7 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212820
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
| Engase |
A |
G |
11: 118,373,400 (GRCm39) |
T248A |
possibly damaging |
Het |
| Gsdma |
C |
T |
11: 98,560,533 (GRCm39) |
Q162* |
probably null |
Het |
| Hapln3 |
T |
C |
7: 78,767,824 (GRCm39) |
E190G |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,987,837 (GRCm39) |
P20S |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
| Nup88 |
T |
A |
11: 70,835,716 (GRCm39) |
Q576L |
probably damaging |
Het |
| Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
| Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably damaging |
Het |
|
| Other mutations in Ces2g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Ces2g
|
APN |
8 |
105,694,471 (GRCm39) |
splice site |
probably benign |
|
|
IGL00901:Ces2g
|
APN |
8 |
105,691,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02101:Ces2g
|
APN |
8 |
105,691,769 (GRCm39) |
splice site |
probably null |
|
|
IGL02146:Ces2g
|
APN |
8 |
105,693,576 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02624:Ces2g
|
APN |
8 |
105,691,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Ces2g
|
APN |
8 |
105,691,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Ces2g
|
UTSW |
8 |
105,691,521 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0025:Ces2g
|
UTSW |
8 |
105,692,628 (GRCm39) |
splice site |
probably benign |
|
|
R0025:Ces2g
|
UTSW |
8 |
105,692,628 (GRCm39) |
splice site |
probably benign |
|
|
R0122:Ces2g
|
UTSW |
8 |
105,694,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0494:Ces2g
|
UTSW |
8 |
105,693,199 (GRCm39) |
missense |
probably benign |
|
|
R1127:Ces2g
|
UTSW |
8 |
105,694,094 (GRCm39) |
splice site |
probably null |
|
|
R1619:Ces2g
|
UTSW |
8 |
105,693,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1813:Ces2g
|
UTSW |
8 |
105,693,569 (GRCm39) |
missense |
probably benign |
0.32 |
|
R2240:Ces2g
|
UTSW |
8 |
105,689,134 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2255:Ces2g
|
UTSW |
8 |
105,694,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2307:Ces2g
|
UTSW |
8 |
105,695,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2566:Ces2g
|
UTSW |
8 |
105,692,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4026:Ces2g
|
UTSW |
8 |
105,691,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4469:Ces2g
|
UTSW |
8 |
105,692,602 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4631:Ces2g
|
UTSW |
8 |
105,694,094 (GRCm39) |
splice site |
probably null |
|
|
R4859:Ces2g
|
UTSW |
8 |
105,694,094 (GRCm39) |
splice site |
probably null |
|
|
R4900:Ces2g
|
UTSW |
8 |
105,693,989 (GRCm39) |
nonsense |
probably null |
|
|
R4925:Ces2g
|
UTSW |
8 |
105,691,526 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5524:Ces2g
|
UTSW |
8 |
105,693,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5556:Ces2g
|
UTSW |
8 |
105,694,074 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6795:Ces2g
|
UTSW |
8 |
105,694,449 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6988:Ces2g
|
UTSW |
8 |
105,690,540 (GRCm39) |
missense |
probably benign |
|
|
R7653:Ces2g
|
UTSW |
8 |
105,689,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7724:Ces2g
|
UTSW |
8 |
105,693,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7740:Ces2g
|
UTSW |
8 |
105,692,962 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7856:Ces2g
|
UTSW |
8 |
105,693,014 (GRCm39) |
missense |
not run |
|
|
R8123:Ces2g
|
UTSW |
8 |
105,693,555 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8690:Ces2g
|
UTSW |
8 |
105,693,605 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8724:Ces2g
|
UTSW |
8 |
105,692,955 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8732:Ces2g
|
UTSW |
8 |
105,689,195 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8825:Ces2g
|
UTSW |
8 |
105,693,954 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9441:Ces2g
|
UTSW |
8 |
105,690,623 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9688:Ces2g
|
UTSW |
8 |
105,691,304 (GRCm39) |
missense |
probably benign |
0.42 |
|
Z1177:Ces2g
|
UTSW |
8 |
105,690,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGGCATCTATGACAAGCAGC -3'
(R):5'- GGTTCCAACTGCATTGTGTGGC -3'
Sequencing Primer
(F):5'- GCATCTATGACAAGCAGCTAAAG -3'
(R):5'- AGATGGCCTTCTTTGACCTAAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation