Incidental Mutation 'IGL02960:Cept1'
ID |
365319 |
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 # |
IGL02960
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 106446712 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 45
(R45*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000137530]
[ENSMUST00000141525]
[ENSMUST00000148269]
[ENSMUST00000192438]
|
AlphaFold |
Q8BGS7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039153
AA Change: R45*
|
SMART Domains |
Protein: ENSMUSP00000037277 Gene: ENSMUSG00000040774 AA Change: R45*
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 null
Transcript: ENSMUST00000068301
AA Change: R45*
|
SMART Domains |
Protein: ENSMUSP00000065743 Gene: ENSMUSG00000040774 AA Change: R45*
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 null
Transcript: ENSMUST00000121231
AA Change: R45*
|
SMART Domains |
Protein: ENSMUSP00000112509 Gene: ENSMUSG00000040774 AA Change: R45*
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 null
Transcript: ENSMUST00000141525
AA Change: R45*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148269
AA Change: R45*
|
SMART Domains |
Protein: ENSMUSP00000118343 Gene: ENSMUSG00000040774 AA Change: R45*
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
178 |
8.8e-23 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000192438
AA Change: R45*
|
SMART Domains |
Protein: ENSMUSP00000142097 Gene: ENSMUSG00000040774 AA Change: R45*
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
A |
14: 59,380,257 (GRCm39) |
R14C |
probably benign |
Het |
Adam29 |
A |
T |
8: 56,325,701 (GRCm39) |
L251* |
probably null |
Het |
Atpaf2 |
T |
C |
11: 60,296,650 (GRCm39) |
E161G |
probably damaging |
Het |
Brwd1 |
T |
C |
16: 95,858,666 (GRCm39) |
D381G |
probably damaging |
Het |
Col3a1 |
A |
G |
1: 45,367,615 (GRCm39) |
E273G |
unknown |
Het |
Cuzd1 |
T |
C |
7: 130,921,832 (GRCm39) |
N57D |
probably benign |
Het |
Cyp2b13 |
A |
G |
7: 25,761,101 (GRCm39) |
K53E |
probably benign |
Het |
Fadd |
T |
C |
7: 144,134,276 (GRCm39) |
E203G |
probably benign |
Het |
Gm3159 |
G |
A |
14: 4,400,552 (GRCm38) |
|
probably null |
Het |
Gpr137c |
T |
C |
14: 45,483,890 (GRCm39) |
F206L |
possibly damaging |
Het |
Hephl1 |
G |
T |
9: 14,995,615 (GRCm39) |
T471N |
probably damaging |
Het |
Ido1 |
A |
T |
8: 25,083,345 (GRCm39) |
|
probably benign |
Het |
Krt40 |
C |
T |
11: 99,430,693 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
A |
2: 69,285,797 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
T |
A |
2: 30,147,025 (GRCm39) |
L613H |
probably damaging |
Het |
Mettl14 |
A |
G |
3: 123,168,534 (GRCm39) |
Y169H |
probably damaging |
Het |
Nlrp4a |
A |
G |
7: 26,149,155 (GRCm39) |
Q254R |
probably benign |
Het |
Or4c15 |
A |
C |
2: 88,760,128 (GRCm39) |
M177R |
possibly damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,371 (GRCm39) |
I126N |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,900,078 (GRCm39) |
T175A |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,447,670 (GRCm39) |
M2241K |
possibly damaging |
Het |
Ptprd |
G |
A |
4: 76,047,105 (GRCm39) |
S387L |
probably damaging |
Het |
Ryr1 |
A |
C |
7: 28,759,478 (GRCm39) |
L3264R |
probably damaging |
Het |
Serpina16 |
G |
A |
12: 103,641,638 (GRCm39) |
T29I |
probably benign |
Het |
Slc9a7 |
A |
G |
X: 20,052,382 (GRCm39) |
M237T |
probably benign |
Het |
Tbck |
A |
G |
3: 132,428,544 (GRCm39) |
T300A |
probably benign |
Het |
Tcaf1 |
A |
C |
6: 42,663,393 (GRCm39) |
D162E |
probably benign |
Het |
Unc80 |
G |
A |
1: 66,717,217 (GRCm39) |
|
probably benign |
Het |
Usp17le |
A |
C |
7: 104,417,947 (GRCm39) |
H398Q |
probably benign |
Het |
Utp15 |
G |
A |
13: 98,389,389 (GRCm39) |
T303M |
probably benign |
Het |
Vmn2r86 |
A |
C |
10: 130,289,636 (GRCm39) |
D86E |
possibly damaging |
Het |
Zmym2 |
T |
A |
14: 57,175,870 (GRCm39) |
C822S |
probably benign |
Het |
Zp3r |
T |
C |
1: 130,511,175 (GRCm39) |
D336G |
possibly damaging |
Het |
Zpr1 |
A |
G |
9: 46,184,849 (GRCm39) |
H82R |
probably damaging |
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 |
|
IGL02053:Cept1
|
APN |
3 |
106,440,712 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
2015-12-18 |