Incidental Mutation 'R0791:Ces1f'
ID |
82399 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ces1f
|
Ensembl Gene |
ENSMUSG00000031725 |
Gene Name |
carboxylesterase 1F |
Synonyms |
CesML1, TGH-2 |
MMRRC Submission |
038971-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R0791 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93998517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 160
(Y160N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034178
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034178]
[ENSMUST00000140026]
|
AlphaFold |
Q91WU0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034178
AA Change: Y160N
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000034178 Gene: ENSMUSG00000031725 AA Change: Y160N
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: ENSMUST00000124066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140026
|
SMART Domains |
Protein: ENSMUSP00000116525 Gene: ENSMUSG00000031725
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151261
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.8%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
G |
A |
19: 8,994,098 (GRCm39) |
M5127I |
probably benign |
Het |
Akr1c13 |
T |
C |
13: 4,244,111 (GRCm39) |
Y55H |
probably damaging |
Het |
Armh3 |
A |
T |
19: 45,922,307 (GRCm39) |
|
probably null |
Het |
Atp2b2 |
C |
T |
6: 113,750,349 (GRCm39) |
R625H |
probably damaging |
Het |
Bpifb2 |
T |
C |
2: 153,720,439 (GRCm39) |
V66A |
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,936,046 (GRCm39) |
T950A |
possibly damaging |
Het |
Ceacam19 |
A |
T |
7: 19,616,557 (GRCm39) |
|
probably null |
Het |
Cenpn |
T |
A |
8: 117,667,559 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
A |
C |
3: 144,710,615 (GRCm39) |
S863A |
probably benign |
Het |
Cntrl |
T |
A |
2: 35,045,291 (GRCm39) |
I781K |
possibly damaging |
Het |
Dock4 |
C |
T |
12: 40,754,480 (GRCm39) |
R490W |
probably damaging |
Het |
Evpl |
T |
A |
11: 116,118,549 (GRCm39) |
Q686L |
probably damaging |
Het |
Fbxw10 |
A |
G |
11: 62,738,282 (GRCm39) |
S59G |
probably benign |
Het |
Glb1l2 |
A |
G |
9: 26,681,047 (GRCm39) |
V218A |
possibly damaging |
Het |
Gpatch1 |
A |
T |
7: 34,980,801 (GRCm39) |
|
probably benign |
Het |
Grin2c |
G |
A |
11: 115,141,472 (GRCm39) |
P882L |
probably damaging |
Het |
H2-Ob |
C |
A |
17: 34,461,588 (GRCm39) |
T109N |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,723,225 (GRCm39) |
V64A |
possibly damaging |
Het |
Jpt2 |
C |
A |
17: 25,167,647 (GRCm39) |
A101S |
probably benign |
Het |
Lamc1 |
C |
A |
1: 153,110,326 (GRCm39) |
Q1116H |
possibly damaging |
Het |
Lamc1 |
T |
C |
1: 153,110,358 (GRCm39) |
S1106G |
probably benign |
Het |
Lamc1 |
T |
G |
1: 153,110,341 (GRCm39) |
Q1111H |
probably damaging |
Het |
Large1 |
A |
G |
8: 73,775,107 (GRCm39) |
|
probably benign |
Het |
Lig4 |
A |
T |
8: 10,023,012 (GRCm39) |
V256E |
possibly damaging |
Het |
Mpz |
C |
A |
1: 170,986,343 (GRCm39) |
Q86K |
possibly damaging |
Het |
Mrps24 |
A |
G |
11: 5,654,684 (GRCm39) |
V90A |
possibly damaging |
Het |
Mtdh |
A |
G |
15: 34,116,528 (GRCm39) |
|
probably benign |
Het |
Mtor |
T |
C |
4: 148,547,367 (GRCm39) |
V450A |
probably benign |
Het |
Mycbpap |
A |
G |
11: 94,402,449 (GRCm39) |
|
probably null |
Het |
Myo6 |
T |
A |
9: 80,169,656 (GRCm39) |
|
probably benign |
Het |
Myom1 |
A |
T |
17: 71,428,131 (GRCm39) |
I1450F |
probably damaging |
Het |
Nbas |
T |
A |
12: 13,532,634 (GRCm39) |
S1781T |
probably benign |
Het |
Nedd1 |
T |
C |
10: 92,555,476 (GRCm39) |
E3G |
probably damaging |
Het |
Nt5c3 |
T |
C |
6: 56,863,734 (GRCm39) |
T149A |
probably benign |
Het |
Or5p56 |
A |
G |
7: 107,589,740 (GRCm39) |
H56R |
probably benign |
Het |
Osbp2 |
G |
A |
11: 3,661,882 (GRCm39) |
|
probably benign |
Het |
Paip1 |
T |
C |
13: 119,566,854 (GRCm39) |
S54P |
possibly damaging |
Het |
Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
Prdm14 |
G |
T |
1: 13,195,968 (GRCm39) |
A31E |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,568,637 (GRCm39) |
|
probably benign |
Het |
Rims2 |
A |
G |
15: 39,543,021 (GRCm39) |
|
probably benign |
Het |
Rnf20 |
A |
G |
4: 49,638,197 (GRCm39) |
N103S |
possibly damaging |
Het |
Sema3g |
T |
A |
14: 30,942,861 (GRCm39) |
|
probably benign |
Het |
Slc30a6 |
T |
C |
17: 74,722,640 (GRCm39) |
S236P |
possibly damaging |
Het |
Slc5a1 |
T |
C |
5: 33,315,421 (GRCm39) |
|
probably benign |
Het |
Snx25 |
A |
T |
8: 46,577,119 (GRCm39) |
M1K |
probably null |
Het |
Synpo2 |
A |
G |
3: 122,906,835 (GRCm39) |
V827A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trak2 |
A |
T |
1: 58,942,820 (GRCm39) |
M862K |
probably benign |
Het |
Trim42 |
A |
T |
9: 97,247,732 (GRCm39) |
H321Q |
probably damaging |
Het |
Twnk |
T |
C |
19: 44,998,693 (GRCm39) |
|
probably benign |
Het |
Tymp |
T |
C |
15: 89,259,021 (GRCm39) |
K221R |
probably damaging |
Het |
Uaca |
C |
A |
9: 60,779,341 (GRCm39) |
Q1243K |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,232,016 (GRCm39) |
|
probably benign |
Het |
Wnt4 |
C |
T |
4: 137,016,594 (GRCm39) |
R83W |
probably damaging |
Het |
Zfp820 |
T |
C |
17: 22,038,509 (GRCm39) |
D273G |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,609,510 (GRCm39) |
Y738* |
probably null |
Het |
Zkscan4 |
A |
C |
13: 21,668,081 (GRCm39) |
E177D |
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 |
|
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 |
R1371:Ces1f
|
UTSW |
8 |
94,006,277 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- ATGCAGTCCTTGGTATCCCACCAC -3'
(R):5'- GGTGAACTTTGAGCATCATGCCCTG -3'
Sequencing Primer
(F):5'- TTGGTATCCCACCACTCCAAAC -3'
(R):5'- ATCAGGGCCAGGCCAAG -3'
|
Posted On |
2013-11-08 |