Incidental Mutation 'R7864:Ces1f'
| ID |
607718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ces1f
|
| Ensembl Gene |
ENSMUSG00000031725 |
| Gene Name |
carboxylesterase 1F |
| Synonyms |
CesML1, TGH-2 |
| MMRRC Submission |
045917-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R7864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
93982864-94006375 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 94000769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 125
(A125V)
|
| 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: A125V
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034178
Gene: ENSMUSG00000031725
AA Change: A125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
545 |
2.5e-166 |
PFAM |
|
Pfam:Abhydrolase_3
|
136 |
244 |
4e-8 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,034,796 (GRCm39) |
R41W |
probably benign |
Het |
| Adam32 |
T |
A |
8: 25,412,292 (GRCm39) |
H88L |
probably benign |
Het |
| Ank1 |
A |
G |
8: 23,577,976 (GRCm39) |
T238A |
probably damaging |
Het |
| Arid1b |
T |
C |
17: 5,392,530 (GRCm39) |
L1967P |
probably damaging |
Het |
| Bbx |
G |
T |
16: 50,082,797 (GRCm39) |
H216Q |
probably damaging |
Het |
| C030005K15Rik |
G |
A |
10: 97,561,614 (GRCm39) |
T39M |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,246 (GRCm39) |
V655A |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,414,906 (GRCm39) |
Y184C |
probably damaging |
Het |
| Chaf1a |
C |
T |
17: 56,354,339 (GRCm39) |
T203I |
unknown |
Het |
| Cntn5 |
A |
G |
9: 9,984,182 (GRCm39) |
S144P |
probably damaging |
Het |
| Cpa5 |
A |
T |
6: 30,631,394 (GRCm39) |
Y436F |
probably damaging |
Het |
| Dbf4 |
A |
T |
5: 8,460,010 (GRCm39) |
H150Q |
possibly damaging |
Het |
| Dlg5 |
G |
A |
14: 24,295,280 (GRCm39) |
P80L |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,140,864 (GRCm39) |
D1360V |
possibly damaging |
Het |
| Ecm1 |
A |
T |
3: 95,641,689 (GRCm39) |
I515N |
probably benign |
Het |
| Fancc |
A |
T |
13: 63,548,073 (GRCm39) |
C75* |
probably null |
Het |
| Foxa1 |
A |
T |
12: 57,589,533 (GRCm39) |
V229D |
probably damaging |
Het |
| Gga1 |
T |
C |
15: 78,772,444 (GRCm39) |
M248T |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,619 (GRCm39) |
Q573R |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,312,290 (GRCm39) |
H1510P |
probably benign |
Het |
| Htr1f |
A |
C |
16: 64,747,157 (GRCm39) |
I45S |
probably damaging |
Het |
| Itsn1 |
T |
C |
16: 91,598,454 (GRCm39) |
V129A |
possibly damaging |
Het |
| Klrg2 |
G |
T |
6: 38,605,024 (GRCm39) |
Q347K |
possibly damaging |
Het |
| Lama2 |
G |
A |
10: 26,932,611 (GRCm39) |
T1996I |
probably benign |
Het |
| Man1a |
C |
A |
10: 53,906,843 (GRCm39) |
L219F |
possibly damaging |
Het |
| Mcub |
A |
G |
3: 129,712,272 (GRCm39) |
I201T |
probably damaging |
Het |
| Or10q1 |
A |
G |
19: 13,726,710 (GRCm39) |
D80G |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,705,428 (GRCm39) |
L633P |
probably damaging |
Het |
| Pate9 |
A |
T |
9: 36,445,747 (GRCm39) |
F68Y |
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,497,762 (GRCm39) |
L429* |
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,389,449 (GRCm39) |
|
probably null |
Het |
| Pld4 |
C |
A |
12: 112,731,557 (GRCm39) |
Q237K |
probably damaging |
Het |
| Plekhm2 |
T |
C |
4: 141,355,357 (GRCm39) |
E897G |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,169,656 (GRCm39) |
F475L |
probably benign |
Het |
| Popdc3 |
G |
A |
10: 45,191,278 (GRCm39) |
A130T |
probably benign |
Het |
| Prss54 |
T |
C |
8: 96,286,297 (GRCm39) |
K259E |
probably benign |
Het |
| Psg23 |
T |
G |
7: 18,344,435 (GRCm39) |
N340T |
possibly damaging |
Het |
| Rab1a |
G |
T |
11: 20,165,673 (GRCm39) |
G23* |
probably null |
Het |
| Rgs9 |
A |
T |
11: 109,166,446 (GRCm39) |
F108Y |
probably damaging |
Het |
| Scn9a |
T |
A |
2: 66,314,904 (GRCm39) |
T1605S |
possibly damaging |
Het |
| Sh2d4b |
G |
A |
14: 40,562,208 (GRCm39) |
T319I |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,726,217 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
A |
T |
17: 27,189,502 (GRCm39) |
Q1286L |
|
Het |
| Tmem132d |
G |
A |
5: 127,860,980 (GRCm39) |
T1047I |
probably damaging |
Het |
| Togaram2 |
G |
A |
17: 72,007,935 (GRCm39) |
R420H |
probably damaging |
Het |
| Uimc1 |
G |
A |
13: 55,241,080 (GRCm39) |
R3* |
probably null |
Het |
| Vmn2r7 |
C |
T |
3: 64,598,947 (GRCm39) |
V537I |
probably benign |
Het |
| Wwp1 |
T |
A |
4: 19,635,328 (GRCm39) |
K584N |
probably damaging |
Het |
| Zc3h12d |
A |
T |
10: 7,715,723 (GRCm39) |
Q42L |
possibly damaging |
Het |
| Zfp729a |
A |
T |
13: 67,769,569 (GRCm39) |
V220E |
probably benign |
Het |
| Zfp91 |
A |
G |
19: 12,748,403 (GRCm39) |
V391A |
probably damaging |
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 |
|
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 |
|
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'- AGACCCAAGCTCTTGTCTTG -3'
(R):5'- AAGCTCAGGTGACATCTCCC -3'
Sequencing Primer
(F):5'- AAGCTCTTGTCTTGTCACCCTG -3'
(R):5'- AGGTGACATCTCCCATTTCTATATG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation