Incidental Mutation 'R6976:Cel'
| ID |
542446 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cel
|
| Ensembl Gene |
ENSMUSG00000026818 |
| Gene Name |
carboxyl ester lipase |
| Synonyms |
BAL, 1810036E18Rik |
| MMRRC Submission |
045382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R6976 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
28445831-28453415 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28446854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 439
(S439F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028161
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028161]
[ENSMUST00000028170]
[ENSMUST00000100241]
[ENSMUST00000113893]
[ENSMUST00000140704]
|
| AlphaFold |
Q64285 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028161
AA Change: S439F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028161
Gene: ENSMUSG00000026818
AA Change: S439F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COesterase
|
1 |
542 |
2.4e-163 |
PFAM |
|
Pfam:Abhydrolase_3
|
121 |
226 |
8e-8 |
PFAM |
|
low complexity region
|
568 |
589 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028170
|
| SMART Domains |
Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
56 |
194 |
4.02e-37 |
SMART |
|
low complexity region
|
239 |
285 |
N/A |
INTRINSIC |
|
RasGEF
|
320 |
587 |
5.28e-118 |
SMART |
|
low complexity region
|
613 |
626 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
655 |
N/A |
INTRINSIC |
|
low complexity region
|
683 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
726 |
N/A |
INTRINSIC |
|
RA
|
736 |
823 |
6.51e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100241
|
| SMART Domains |
Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
111 |
249 |
4.02e-37 |
SMART |
|
low complexity region
|
294 |
340 |
N/A |
INTRINSIC |
|
RasGEF
|
375 |
642 |
5.28e-118 |
SMART |
|
low complexity region
|
668 |
681 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
710 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
767 |
N/A |
INTRINSIC |
|
low complexity region
|
771 |
781 |
N/A |
INTRINSIC |
|
RA
|
791 |
878 |
6.51e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113893
|
| SMART Domains |
Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
111 |
237 |
1.25e-42 |
SMART |
|
low complexity region
|
282 |
328 |
N/A |
INTRINSIC |
|
RasGEF
|
363 |
630 |
5.28e-118 |
SMART |
|
low complexity region
|
656 |
669 |
N/A |
INTRINSIC |
|
low complexity region
|
689 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
726 |
755 |
N/A |
INTRINSIC |
|
low complexity region
|
759 |
769 |
N/A |
INTRINSIC |
|
RA
|
779 |
866 |
6.51e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140704
|
| SMART Domains |
Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
13 |
N/A |
INTRINSIC |
|
RA
|
36 |
123 |
6.51e-22 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycoprotein secreted from the pancreas into the digestive tract and from the lactating mammary gland into human milk. The physiological role of this protein is in cholesterol and lipid-soluble vitamin ester hydrolysis and absorption. This encoded protein promotes large chylomicron production in the intestine. Also its presence in plasma suggests its interactions with cholesterol and oxidized lipoproteins to modulate the progression of atherosclerosis. In pancreatic tumoral cells, this encoded protein is thought to be sequestrated within the Golgi compartment and is probably not secreted. This gene contains a variable number of tandem repeat (VNTR) polymorphism in the coding region that may influence the function of the encoded protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced cholesteryl ester absorption. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
| Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
| Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
| Glod4 |
A |
G |
11: 76,134,406 (GRCm39) |
F22S |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
| Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
| Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
| Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
| Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
| Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
| Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
| Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
| Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
| Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
| Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
| Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
| Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
possibly damaging |
Het |
|
| Other mutations in Cel |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00886:Cel
|
APN |
2 |
28,449,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01327:Cel
|
APN |
2 |
28,447,967 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01606:Cel
|
APN |
2 |
28,450,576 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0304:Cel
|
UTSW |
2 |
28,447,783 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0321:Cel
|
UTSW |
2 |
28,451,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0865:Cel
|
UTSW |
2 |
28,450,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1123:Cel
|
UTSW |
2 |
28,446,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1424:Cel
|
UTSW |
2 |
28,449,636 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1448:Cel
|
UTSW |
2 |
28,446,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1597:Cel
|
UTSW |
2 |
28,450,479 (GRCm39) |
splice site |
probably benign |
|
|
R1717:Cel
|
UTSW |
2 |
28,446,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Cel
|
UTSW |
2 |
28,451,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3149:Cel
|
UTSW |
2 |
28,446,143 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4105:Cel
|
UTSW |
2 |
28,448,039 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4520:Cel
|
UTSW |
2 |
28,447,980 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5135:Cel
|
UTSW |
2 |
28,449,435 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5318:Cel
|
UTSW |
2 |
28,447,720 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5323:Cel
|
UTSW |
2 |
28,450,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Cel
|
UTSW |
2 |
28,450,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6803:Cel
|
UTSW |
2 |
28,448,060 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7342:Cel
|
UTSW |
2 |
28,450,649 (GRCm39) |
nonsense |
probably null |
|
|
R8496:Cel
|
UTSW |
2 |
28,446,200 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9062:Cel
|
UTSW |
2 |
28,451,214 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9223:Cel
|
UTSW |
2 |
28,449,441 (GRCm39) |
frame shift |
probably null |
|
|
R9224:Cel
|
UTSW |
2 |
28,449,441 (GRCm39) |
frame shift |
probably null |
|
|
R9385:Cel
|
UTSW |
2 |
28,450,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9695:Cel
|
UTSW |
2 |
28,450,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCCTGGCAAAGTTGGTC -3'
(R):5'- CTGAATACTGTAGGGTGGAGAC -3'
Sequencing Primer
(F):5'- CTCCTGGCAAAGTTGGTCCAATAG -3'
(R):5'- TGAGTACACTGTAGCTGTCAGACAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation