Incidental Mutation 'R4026:Ces2g'
| ID |
312988 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces2g
|
| Ensembl Gene |
ENSMUSG00000031877 |
| Gene Name |
carboxylesterase 2G |
| Synonyms |
2210023G05Rik |
| MMRRC Submission |
040849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.047)
|
| Stock # |
R4026 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
105688350-105696169 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 105691377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 171
(V171E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043183]
[ENSMUST00000212820]
|
| AlphaFold |
E9PV38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043183
AA Change: V171E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049315
Gene: ENSMUSG00000031877
AA Change: V171E
| 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
|
| Meta Mutation Damage Score |
0.6099 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg7 |
A |
T |
16: 56,550,661 (GRCm39) |
Y684N |
probably damaging |
Het |
| Ahnak |
G |
T |
19: 8,988,663 (GRCm39) |
V3316F |
probably damaging |
Het |
| Cacna1a |
C |
T |
8: 85,307,962 (GRCm39) |
T1409I |
probably damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,791,666 (GRCm39) |
M698T |
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 77,613,827 (GRCm39) |
D254E |
possibly damaging |
Het |
| Dlec1 |
T |
C |
9: 118,966,408 (GRCm39) |
Y1126H |
probably damaging |
Het |
| Dspp |
G |
A |
5: 104,325,563 (GRCm39) |
S642N |
unknown |
Het |
| Fezf2 |
A |
T |
14: 12,343,986 (GRCm38) |
C302S |
probably damaging |
Het |
| Gm10754 |
A |
G |
10: 97,517,978 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
G |
A |
6: 131,144,031 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7929 |
T |
C |
14: 41,472,509 (GRCm39) |
K21E |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,598,120 (GRCm39) |
D1727E |
probably benign |
Het |
| Lrriq4 |
T |
C |
3: 30,704,422 (GRCm39) |
V150A |
possibly damaging |
Het |
| Micu3 |
A |
G |
8: 40,812,496 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
C |
9: 104,948,685 (GRCm39) |
|
probably null |
Het |
| Myo1e |
A |
G |
9: 70,232,157 (GRCm39) |
I229V |
probably benign |
Het |
| Ncam1 |
T |
C |
9: 49,476,295 (GRCm39) |
I265V |
probably benign |
Het |
| Ncoa7 |
T |
C |
10: 30,598,720 (GRCm39) |
T68A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,668,908 (GRCm39) |
V118A |
probably benign |
Het |
| Ppp3r1 |
T |
C |
11: 17,144,786 (GRCm39) |
V133A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,102,249 (GRCm39) |
S304P |
possibly damaging |
Het |
| Srsf6 |
T |
A |
2: 162,776,211 (GRCm39) |
|
probably benign |
Het |
| Tas2r105 |
A |
G |
6: 131,663,789 (GRCm39) |
V213A |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,301 (GRCm39) |
E650K |
probably benign |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trav4-2 |
T |
A |
14: 53,656,287 (GRCm39) |
D96E |
possibly damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,688 (GRCm39) |
M17L |
probably benign |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,671 (GRCm39) |
S685T |
possibly damaging |
Het |
| Vmn2r89 |
T |
C |
14: 51,689,500 (GRCm39) |
M1T |
probably null |
Het |
| Wdr20 |
A |
G |
12: 110,759,950 (GRCm39) |
T279A |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,577,721 (GRCm39) |
S1131P |
possibly damaging |
Het |
| Zfyve1 |
A |
G |
12: 83,641,296 (GRCm39) |
V120A |
probably benign |
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 |
|
|
R1337:Ces2g
|
UTSW |
8 |
105,690,597 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
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 |
|
|
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'- TACTAGAGGACCCTTGCTGTG -3'
(R):5'- AAAGTGGGCGATGTTCTGC -3'
Sequencing Primer
(F):5'- ACCCTTGCTGTGGCCAAAG -3'
(R):5'- AGCCACTTGGTCCAGGAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation