Incidental Mutation 'R4469:Ces2g'
ID |
329323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces2g
|
Ensembl Gene |
ENSMUSG00000031877 |
Gene Name |
carboxylesterase 2G |
Synonyms |
2210023G05Rik |
MMRRC Submission |
041726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.047)
|
Stock # |
R4469 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
105688350-105696169 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 105692602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 301
(I301F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049315
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043183]
|
AlphaFold |
E9PV38 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043183
AA Change: I301F
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000049315 Gene: ENSMUSG00000031877 AA Change: I301F
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
|
Meta Mutation Damage Score |
0.0721 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
A |
G |
13: 119,606,345 (GRCm39) |
K196E |
probably damaging |
Het |
Ackr1 |
T |
C |
1: 173,160,112 (GRCm39) |
|
probably null |
Het |
Adgra1 |
C |
T |
7: 139,455,977 (GRCm39) |
T535I |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,623,326 (GRCm39) |
Y310H |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,252,033 (GRCm39) |
I928T |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Asb4 |
C |
A |
6: 5,423,409 (GRCm39) |
F185L |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
Cntnap4 |
A |
T |
8: 113,391,898 (GRCm39) |
N121I |
probably damaging |
Het |
Csf1 |
C |
T |
3: 107,657,997 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
A |
1: 53,483,685 (GRCm39) |
H3364L |
probably benign |
Het |
Dnmt3c |
A |
G |
2: 153,562,280 (GRCm39) |
T555A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,230,923 (GRCm39) |
T3017A |
probably benign |
Het |
Efcab7 |
A |
G |
4: 99,766,901 (GRCm39) |
D482G |
possibly damaging |
Het |
Fbxl5 |
A |
G |
5: 43,925,528 (GRCm39) |
V154A |
probably damaging |
Het |
Flt3 |
T |
C |
5: 147,312,454 (GRCm39) |
|
silent |
Het |
G6pd2 |
A |
T |
5: 61,966,288 (GRCm39) |
Y21F |
probably benign |
Het |
Gm9376 |
C |
T |
14: 118,505,011 (GRCm39) |
P148S |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Gtpbp2 |
A |
G |
17: 46,472,239 (GRCm39) |
Y58C |
probably damaging |
Het |
Hcrtr2 |
T |
A |
9: 76,137,838 (GRCm39) |
T426S |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,853,794 (GRCm39) |
Y613* |
probably null |
Het |
Hsd17b1 |
A |
T |
11: 100,970,838 (GRCm39) |
M265L |
probably benign |
Het |
Ier3ip1 |
A |
G |
18: 77,028,294 (GRCm39) |
|
probably benign |
Het |
Kif11 |
A |
G |
19: 37,404,940 (GRCm39) |
M924V |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,888,091 (GRCm39) |
|
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,247,467 (GRCm39) |
I1588F |
probably damaging |
Het |
Nostrin |
C |
G |
2: 69,006,061 (GRCm39) |
I248M |
probably damaging |
Het |
Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
Or14j1 |
T |
C |
17: 38,146,607 (GRCm39) |
L239P |
probably benign |
Het |
Qng1 |
A |
G |
13: 58,530,239 (GRCm39) |
L257P |
probably damaging |
Het |
Rabggta |
A |
G |
14: 55,953,944 (GRCm39) |
V266A |
probably benign |
Het |
Ror2 |
G |
A |
13: 53,286,016 (GRCm39) |
T66M |
possibly damaging |
Het |
Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
Smad9 |
T |
C |
3: 54,690,182 (GRCm39) |
V134A |
probably damaging |
Het |
Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
Ssbp2 |
G |
A |
13: 91,842,175 (GRCm39) |
G302D |
probably damaging |
Het |
Stom |
T |
C |
2: 35,211,545 (GRCm39) |
N159D |
possibly damaging |
Het |
Trav16d-dv11 |
A |
G |
14: 53,285,035 (GRCm39) |
K37R |
probably benign |
Het |
Trim75 |
A |
G |
8: 65,436,369 (GRCm39) |
V27A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,548,105 (GRCm39) |
T32066A |
probably damaging |
Het |
Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
Ubp1 |
C |
T |
9: 113,787,775 (GRCm39) |
T222I |
probably benign |
Het |
Unc5cl |
C |
G |
17: 48,766,833 (GRCm39) |
P69R |
possibly damaging |
Het |
Zfp616 |
T |
A |
11: 73,961,950 (GRCm39) |
C24S |
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 |
|
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 |
|
R4026:Ces2g
|
UTSW |
8 |
105,691,377 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TTTCTGGATGTCACCTTTGAGC -3'
(R):5'- CACCCTGGAGGAGAATCTACAC -3'
Sequencing Primer
(F):5'- CTGGATGTCACCTTTGAGCAATAG -3'
(R):5'- CAAAGGCATACAGATGAGGT -3'
|
Posted On |
2015-07-21 |