Incidental Mutation 'IGL02053:Cept1'
ID |
185141 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cept1
|
Ensembl Gene |
ENSMUSG00000040774 |
Gene Name |
choline/ethanolaminephosphotransferase 1 |
Synonyms |
9930118K05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
IGL02053
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 106440712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 149
(L149Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000137530]
[ENSMUST00000148269]
[ENSMUST00000192438]
|
AlphaFold |
Q8BGS7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039153
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037277 Gene: ENSMUSG00000040774 AA Change: L149Q
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
229 |
6.4e-23 |
PFAM |
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
transmembrane domain
|
281 |
303 |
N/A |
INTRINSIC |
transmembrane domain
|
316 |
338 |
N/A |
INTRINSIC |
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068301
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000065743 Gene: ENSMUSG00000040774 AA Change: L149Q
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
328 |
3.2e-21 |
PFAM |
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000121231
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112509 Gene: ENSMUSG00000040774 AA Change: L149Q
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
83 |
158 |
7.4e-18 |
PFAM |
transmembrane domain
|
181 |
203 |
N/A |
INTRINSIC |
transmembrane domain
|
213 |
235 |
N/A |
INTRINSIC |
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
transmembrane domain
|
285 |
304 |
N/A |
INTRINSIC |
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
transmembrane domain
|
370 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137530
|
SMART Domains |
Protein: ENSMUSP00000115898 Gene: ENSMUSG00000040774
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148269
AA Change: L149Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118343 Gene: ENSMUSG00000040774 AA Change: L149Q
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
178 |
8.8e-23 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000192438
AA Change: L149Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000142097 Gene: ENSMUSG00000040774 AA Change: L149Q
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
215 |
2.3e-20 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016] PHENOTYPE: Conditional homozygous knockout in skeletal muscle leads to improved glucose tolerance, increased insulin sensitivity and muscle weakness in mice fed a high fat diet. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
C |
17: 43,761,058 (GRCm39) |
S918P |
possibly damaging |
Het |
AY358078 |
G |
T |
14: 52,043,009 (GRCm39) |
E232D |
unknown |
Het |
Baz1b |
C |
A |
5: 135,271,320 (GRCm39) |
P1301Q |
probably benign |
Het |
Btn2a2 |
T |
C |
13: 23,662,990 (GRCm39) |
D311G |
probably damaging |
Het |
Clec2m |
T |
C |
6: 129,303,725 (GRCm39) |
Q80R |
probably benign |
Het |
Col6a4 |
T |
A |
9: 105,940,294 (GRCm39) |
D1212V |
possibly damaging |
Het |
Cyp2j8 |
T |
C |
4: 96,358,891 (GRCm39) |
I343V |
probably damaging |
Het |
Dapk2 |
A |
G |
9: 66,128,027 (GRCm39) |
I102V |
probably benign |
Het |
Dntt |
A |
G |
19: 41,034,713 (GRCm39) |
T321A |
probably benign |
Het |
Entrep2 |
C |
T |
7: 64,469,590 (GRCm39) |
G53R |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,090,769 (GRCm39) |
|
probably benign |
Het |
Fbxw5 |
T |
C |
2: 25,393,453 (GRCm39) |
V18A |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 92,030,225 (GRCm39) |
C1109S |
probably benign |
Het |
Ms4a6c |
A |
G |
19: 11,455,586 (GRCm39) |
I132V |
probably benign |
Het |
Ncoa3 |
T |
C |
2: 165,896,754 (GRCm39) |
L515P |
probably damaging |
Het |
Nfic |
A |
G |
10: 81,256,385 (GRCm39) |
V115A |
probably damaging |
Het |
P4ha2 |
A |
G |
11: 54,008,413 (GRCm39) |
T207A |
probably benign |
Het |
Pde10a |
G |
T |
17: 9,193,601 (GRCm39) |
V732L |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,883,779 (GRCm39) |
L626Q |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,200,230 (GRCm39) |
N270D |
probably damaging |
Het |
Prdm10 |
T |
C |
9: 31,272,144 (GRCm39) |
S977P |
probably benign |
Het |
Ptprm |
A |
G |
17: 67,000,836 (GRCm39) |
L1073P |
probably damaging |
Het |
Rai14 |
A |
C |
15: 10,633,242 (GRCm39) |
H49Q |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,038,816 (GRCm39) |
I394F |
probably damaging |
Het |
Sec14l1 |
C |
T |
11: 117,047,738 (GRCm39) |
|
probably benign |
Het |
Sema5a |
A |
G |
15: 32,550,413 (GRCm39) |
I151V |
probably benign |
Het |
Tet2 |
T |
A |
3: 133,194,284 (GRCm39) |
N50I |
possibly damaging |
Het |
Tubal3 |
A |
C |
13: 3,983,159 (GRCm39) |
D313A |
probably damaging |
Het |
Usp45 |
A |
G |
4: 21,824,553 (GRCm39) |
N483S |
probably benign |
Het |
|
Other mutations in Cept1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00579:Cept1
|
APN |
3 |
106,413,119 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01860:Cept1
|
APN |
3 |
106,438,444 (GRCm39) |
intron |
probably benign |
|
IGL02351:Cept1
|
APN |
3 |
106,446,504 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02358:Cept1
|
APN |
3 |
106,446,504 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02568:Cept1
|
APN |
3 |
106,411,035 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02960:Cept1
|
APN |
3 |
106,446,712 (GRCm39) |
nonsense |
probably null |
|
IGL03019:Cept1
|
APN |
3 |
106,411,957 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03182:Cept1
|
APN |
3 |
106,411,866 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03401:Cept1
|
APN |
3 |
106,440,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R2128:Cept1
|
UTSW |
3 |
106,420,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R2928:Cept1
|
UTSW |
3 |
106,438,468 (GRCm39) |
missense |
probably benign |
0.07 |
R3688:Cept1
|
UTSW |
3 |
106,427,331 (GRCm39) |
missense |
probably benign |
0.00 |
R4762:Cept1
|
UTSW |
3 |
106,446,677 (GRCm39) |
nonsense |
probably null |
|
R4861:Cept1
|
UTSW |
3 |
106,413,048 (GRCm39) |
missense |
probably damaging |
0.97 |
R4861:Cept1
|
UTSW |
3 |
106,413,048 (GRCm39) |
missense |
probably damaging |
0.97 |
R4890:Cept1
|
UTSW |
3 |
106,413,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R5506:Cept1
|
UTSW |
3 |
106,438,564 (GRCm39) |
missense |
probably benign |
0.00 |
R5999:Cept1
|
UTSW |
3 |
106,440,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R6106:Cept1
|
UTSW |
3 |
106,410,992 (GRCm39) |
missense |
probably benign |
0.00 |
R6478:Cept1
|
UTSW |
3 |
106,440,761 (GRCm39) |
nonsense |
probably null |
|
R6560:Cept1
|
UTSW |
3 |
106,412,594 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6858:Cept1
|
UTSW |
3 |
106,420,195 (GRCm39) |
splice site |
probably null |
|
R7372:Cept1
|
UTSW |
3 |
106,411,056 (GRCm39) |
missense |
probably benign |
0.14 |
R8481:Cept1
|
UTSW |
3 |
106,412,569 (GRCm39) |
missense |
probably benign |
|
R8910:Cept1
|
UTSW |
3 |
106,446,565 (GRCm39) |
missense |
probably benign |
|
R8936:Cept1
|
UTSW |
3 |
106,411,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9337:Cept1
|
UTSW |
3 |
106,412,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2014-05-07 |