Incidental Mutation 'R1371:Ces1f'
ID |
157319 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1f
|
Ensembl Gene |
ENSMUSG00000031725 |
Gene Name |
carboxylesterase 1F |
Synonyms |
CesML1, TGH-2 |
MMRRC Submission |
039435-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R1371 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 94006277 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 18
(G18R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
[ENSMUST00000140026]
|
AlphaFold |
Q91WU0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034178
AA Change: G18R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034178 Gene: ENSMUSG00000031725 AA Change: G18R
Domain | Start | End | E-Value | Type |
Pfam:COesterase
|
1 |
545 |
2.5e-166 |
PFAM |
Pfam:Abhydrolase_3
|
136 |
244 |
4e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133879
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140026
AA Change: E18K
|
SMART Domains |
Protein: ENSMUSP00000116525 Gene: ENSMUSG00000031725 AA Change: E18K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.7%
- 20x: 89.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,844,379 (GRCm39) |
D884V |
probably damaging |
Het |
Acvr2a |
C |
T |
2: 48,789,628 (GRCm39) |
T457M |
probably damaging |
Het |
Akr1b10 |
C |
T |
6: 34,369,394 (GRCm39) |
T208I |
probably benign |
Het |
Aldh16a1 |
G |
T |
7: 44,796,674 (GRCm39) |
T275K |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Asgr1 |
T |
G |
11: 69,946,923 (GRCm39) |
C56W |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,860,918 (GRCm39) |
I335T |
probably damaging |
Het |
BC061237 |
A |
G |
14: 44,741,762 (GRCm39) |
|
probably benign |
Het |
Bdh1 |
G |
T |
16: 31,275,720 (GRCm39) |
K280N |
probably benign |
Het |
Bmp1 |
C |
T |
14: 70,729,906 (GRCm39) |
C466Y |
probably damaging |
Het |
Ccdc181 |
A |
G |
1: 164,108,172 (GRCm39) |
E285G |
probably benign |
Het |
Cfap43 |
T |
A |
19: 47,824,045 (GRCm39) |
I109L |
possibly damaging |
Het |
Cma2 |
T |
C |
14: 56,210,283 (GRCm39) |
L56S |
probably damaging |
Het |
Edc4 |
A |
G |
8: 106,617,382 (GRCm39) |
|
probably benign |
Het |
F3 |
T |
C |
3: 121,526,159 (GRCm39) |
C241R |
probably damaging |
Het |
Fhdc1 |
T |
A |
3: 84,352,310 (GRCm39) |
S972C |
probably damaging |
Het |
Heatr1 |
T |
G |
13: 12,432,513 (GRCm39) |
I1086R |
possibly damaging |
Het |
Hsh2d |
A |
T |
8: 72,950,738 (GRCm39) |
|
probably benign |
Het |
Ice1 |
T |
C |
13: 70,744,340 (GRCm39) |
Y2081C |
probably damaging |
Het |
Il1rl1 |
A |
G |
1: 40,481,873 (GRCm39) |
N194D |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,923,022 (GRCm39) |
V385M |
probably damaging |
Het |
Lig1 |
G |
A |
7: 13,022,611 (GRCm39) |
R147Q |
probably damaging |
Het |
Lrp1b |
C |
T |
2: 40,537,165 (GRCm39) |
V41I |
probably damaging |
Het |
Macroh2a2 |
A |
T |
10: 61,585,112 (GRCm39) |
D177E |
possibly damaging |
Het |
Mst1r |
T |
A |
9: 107,794,424 (GRCm39) |
V1201E |
probably damaging |
Het |
Myof |
T |
C |
19: 37,892,116 (GRCm39) |
|
probably benign |
Het |
Nbas |
G |
T |
12: 13,532,379 (GRCm39) |
|
probably benign |
Het |
Ndst1 |
A |
G |
18: 60,840,719 (GRCm39) |
I321T |
possibly damaging |
Het |
Nek10 |
G |
A |
14: 14,850,983 (GRCm38) |
G343R |
probably damaging |
Het |
Or2a7 |
A |
T |
6: 43,151,234 (GRCm39) |
T105S |
probably benign |
Het |
Or2y1 |
T |
A |
11: 49,385,650 (GRCm39) |
C97S |
probably damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,122 (GRCm39) |
I200N |
probably damaging |
Het |
Pde4d |
T |
C |
13: 109,253,595 (GRCm39) |
S141P |
probably benign |
Het |
Pigm |
A |
T |
1: 172,204,381 (GRCm39) |
Q39L |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,846,750 (GRCm39) |
I88F |
probably benign |
Het |
Prss16 |
T |
A |
13: 22,192,856 (GRCm39) |
|
probably benign |
Het |
Psmc4 |
G |
A |
7: 27,742,222 (GRCm39) |
|
probably benign |
Het |
Ptger3 |
T |
A |
3: 157,273,365 (GRCm39) |
C237* |
probably null |
Het |
Recql |
G |
A |
6: 142,318,601 (GRCm39) |
T214M |
probably damaging |
Het |
Rfx7 |
T |
A |
9: 72,526,857 (GRCm39) |
V1349D |
probably damaging |
Het |
Ros1 |
A |
G |
10: 51,964,041 (GRCm39) |
S1740P |
probably damaging |
Het |
Rrm2b |
A |
T |
15: 37,947,053 (GRCm39) |
S83T |
probably benign |
Het |
Sall4 |
A |
G |
2: 168,598,394 (GRCm39) |
Y149H |
probably benign |
Het |
Smad1 |
A |
G |
8: 80,076,207 (GRCm39) |
|
probably benign |
Het |
Snrnp70 |
T |
C |
7: 45,030,129 (GRCm39) |
|
probably benign |
Het |
Spef2 |
C |
A |
15: 9,725,194 (GRCm39) |
|
probably benign |
Het |
Sptlc1 |
T |
C |
13: 53,505,660 (GRCm39) |
T253A |
probably benign |
Het |
Zbbx |
T |
C |
3: 74,959,784 (GRCm39) |
Y595C |
possibly damaging |
Het |
Zfp382 |
T |
C |
7: 29,833,114 (GRCm39) |
V255A |
probably benign |
Het |
|
Other mutations in Ces1f |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:Ces1f
|
APN |
8 |
93,994,620 (GRCm39) |
missense |
probably benign |
|
IGL01143:Ces1f
|
APN |
8 |
93,998,458 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01571:Ces1f
|
APN |
8 |
93,984,996 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01731:Ces1f
|
APN |
8 |
93,993,948 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01733:Ces1f
|
APN |
8 |
93,996,642 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02124:Ces1f
|
APN |
8 |
93,992,488 (GRCm39) |
missense |
possibly damaging |
0.54 |
IGL03058:Ces1f
|
APN |
8 |
93,996,600 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03124:Ces1f
|
APN |
8 |
94,002,012 (GRCm39) |
missense |
probably benign |
|
3-1:Ces1f
|
UTSW |
8 |
94,002,059 (GRCm39) |
missense |
probably benign |
0.29 |
G5030:Ces1f
|
UTSW |
8 |
94,000,847 (GRCm39) |
missense |
probably benign |
0.03 |
R0025:Ces1f
|
UTSW |
8 |
93,998,513 (GRCm39) |
missense |
probably benign |
0.27 |
R0025:Ces1f
|
UTSW |
8 |
93,998,513 (GRCm39) |
missense |
probably benign |
0.27 |
R0113:Ces1f
|
UTSW |
8 |
94,006,327 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R0201:Ces1f
|
UTSW |
8 |
93,993,957 (GRCm39) |
missense |
probably null |
0.01 |
R0306:Ces1f
|
UTSW |
8 |
94,003,172 (GRCm39) |
splice site |
probably benign |
|
R0317:Ces1f
|
UTSW |
8 |
93,990,019 (GRCm39) |
missense |
probably benign |
0.05 |
R0558:Ces1f
|
UTSW |
8 |
94,002,017 (GRCm39) |
missense |
probably benign |
|
R0791:Ces1f
|
UTSW |
8 |
93,998,517 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0833:Ces1f
|
UTSW |
8 |
93,996,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R0836:Ces1f
|
UTSW |
8 |
93,996,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R1087:Ces1f
|
UTSW |
8 |
93,984,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R1118:Ces1f
|
UTSW |
8 |
93,993,870 (GRCm39) |
splice site |
probably benign |
|
R1147:Ces1f
|
UTSW |
8 |
93,984,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1147:Ces1f
|
UTSW |
8 |
93,984,909 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1183:Ces1f
|
UTSW |
8 |
93,994,633 (GRCm39) |
missense |
probably benign |
0.01 |
R1480:Ces1f
|
UTSW |
8 |
94,000,782 (GRCm39) |
missense |
probably benign |
0.07 |
R1522:Ces1f
|
UTSW |
8 |
93,998,517 (GRCm39) |
missense |
possibly damaging |
0.52 |
R1681:Ces1f
|
UTSW |
8 |
94,002,042 (GRCm39) |
missense |
probably benign |
0.00 |
R1865:Ces1f
|
UTSW |
8 |
94,000,893 (GRCm39) |
splice site |
probably benign |
|
R2437:Ces1f
|
UTSW |
8 |
93,996,767 (GRCm39) |
splice site |
probably null |
|
R3038:Ces1f
|
UTSW |
8 |
93,983,226 (GRCm39) |
missense |
probably damaging |
1.00 |
R4199:Ces1f
|
UTSW |
8 |
93,983,517 (GRCm39) |
missense |
probably benign |
0.00 |
R4406:Ces1f
|
UTSW |
8 |
93,989,950 (GRCm39) |
missense |
probably benign |
|
R5385:Ces1f
|
UTSW |
8 |
93,992,388 (GRCm39) |
nonsense |
probably null |
|
R5450:Ces1f
|
UTSW |
8 |
93,992,423 (GRCm39) |
missense |
probably benign |
0.04 |
R5627:Ces1f
|
UTSW |
8 |
94,006,327 (GRCm39) |
start codon destroyed |
probably null |
0.93 |
R6182:Ces1f
|
UTSW |
8 |
93,983,124 (GRCm39) |
missense |
probably benign |
0.43 |
R6256:Ces1f
|
UTSW |
8 |
93,992,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R6379:Ces1f
|
UTSW |
8 |
94,006,279 (GRCm39) |
missense |
probably benign |
|
R6443:Ces1f
|
UTSW |
8 |
94,001,993 (GRCm39) |
missense |
probably benign |
0.00 |
R6967:Ces1f
|
UTSW |
8 |
93,994,625 (GRCm39) |
missense |
probably benign |
0.00 |
R7158:Ces1f
|
UTSW |
8 |
93,994,644 (GRCm39) |
missense |
probably benign |
0.00 |
R7323:Ces1f
|
UTSW |
8 |
93,998,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7654:Ces1f
|
UTSW |
8 |
93,998,562 (GRCm39) |
missense |
probably benign |
0.00 |
R7810:Ces1f
|
UTSW |
8 |
93,983,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R7812:Ces1f
|
UTSW |
8 |
93,984,938 (GRCm39) |
missense |
probably benign |
0.00 |
R7864:Ces1f
|
UTSW |
8 |
94,000,769 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7999:Ces1f
|
UTSW |
8 |
93,989,623 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9048:Ces1f
|
UTSW |
8 |
93,989,695 (GRCm39) |
missense |
probably benign |
0.32 |
R9289:Ces1f
|
UTSW |
8 |
93,992,491 (GRCm39) |
missense |
probably benign |
0.06 |
R9389:Ces1f
|
UTSW |
8 |
93,996,600 (GRCm39) |
critical splice donor site |
probably null |
|
R9598:Ces1f
|
UTSW |
8 |
93,983,494 (GRCm39) |
missense |
probably benign |
0.27 |
R9745:Ces1f
|
UTSW |
8 |
93,989,740 (GRCm39) |
missense |
probably benign |
0.18 |
X0026:Ces1f
|
UTSW |
8 |
93,996,684 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGATCTCAGAGTGTCCTGCACC -3'
(R):5'- ACTGCCTGGAGGTATTTGCTTGAC -3'
Sequencing Primer
(F):5'- CATGGTGTAGGCCACTTAGAG -3'
(R):5'- GCCTGTCCATGCAAGATGTT -3'
|
Posted On |
2014-02-18 |