Incidental Mutation 'IGL01860:Cept1'
| ID |
178312 |
| 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 # |
IGL01860
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to G
at 106438444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000137530]
[ENSMUST00000148269]
[ENSMUST00000192438]
|
| AlphaFold |
Q8BGS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039153
|
| SMART Domains |
Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
| 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 benign
Transcript: ENSMUST00000068301
|
| SMART Domains |
Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
| 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 benign
Transcript: ENSMUST00000121231
|
| SMART Domains |
Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
| 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 benign
Transcript: ENSMUST00000148269
|
| SMART Domains |
Protein: ENSMUSP00000118343
Gene: ENSMUSG00000040774
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
81 |
178 |
8.8e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192438
|
| SMART Domains |
Protein: ENSMUSP00000142097
Gene: ENSMUSG00000040774
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,914 (GRCm39) |
N248Y |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,868,023 (GRCm39) |
V128M |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,566,175 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,224,621 (GRCm39) |
M1405K |
probably damaging |
Het |
| Atp6v1a |
G |
T |
16: 43,920,319 (GRCm39) |
L426M |
probably damaging |
Het |
| Calhm6 |
A |
G |
10: 34,002,561 (GRCm39) |
V174A |
probably damaging |
Het |
| Cdc123 |
A |
G |
2: 5,808,752 (GRCm39) |
|
probably benign |
Het |
| Cipc |
T |
A |
12: 87,007,047 (GRCm39) |
D60E |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,581,747 (GRCm39) |
S30P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,659 (GRCm39) |
I121T |
probably benign |
Het |
| Fbln5 |
A |
G |
12: 101,776,128 (GRCm39) |
Y89H |
probably damaging |
Het |
| Fhod3 |
T |
C |
18: 25,030,738 (GRCm39) |
F128L |
probably damaging |
Het |
| Fhod3 |
T |
A |
18: 25,037,005 (GRCm39) |
I154N |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,792,483 (GRCm39) |
T515A |
probably benign |
Het |
| Gas2l2 |
G |
A |
11: 83,312,906 (GRCm39) |
T802I |
probably benign |
Het |
| Gm10710 |
T |
A |
3: 83,035,156 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
A |
G |
1: 91,861,417 (GRCm39) |
M1051T |
probably benign |
Het |
| Heatr5b |
A |
G |
17: 79,115,909 (GRCm39) |
V849A |
probably damaging |
Het |
| Helb |
T |
C |
10: 119,938,738 (GRCm39) |
I579V |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,197,787 (GRCm39) |
I609V |
probably benign |
Het |
| Itgam |
C |
A |
7: 127,670,115 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnc1 |
T |
C |
7: 46,077,554 (GRCm39) |
L452P |
probably damaging |
Het |
| Ltbp4 |
T |
A |
7: 27,019,071 (GRCm39) |
T1083S |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,686 (GRCm39) |
I1449M |
probably damaging |
Het |
| Nalf1 |
A |
T |
8: 9,257,831 (GRCm39) |
V439E |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,385 (GRCm39) |
V103E |
probably damaging |
Het |
| Pals1 |
T |
C |
12: 78,877,681 (GRCm39) |
V531A |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,123,329 (GRCm39) |
D888G |
possibly damaging |
Het |
| Pcdhb21 |
G |
T |
18: 37,647,958 (GRCm39) |
M362I |
probably benign |
Het |
| Pde1a |
A |
G |
2: 79,705,628 (GRCm39) |
S333P |
probably damaging |
Het |
| Ppm1j |
A |
G |
3: 104,691,408 (GRCm39) |
T299A |
probably damaging |
Het |
| Pramel46 |
G |
A |
5: 95,418,510 (GRCm39) |
T162I |
probably benign |
Het |
| Ptdss2 |
A |
G |
7: 140,732,749 (GRCm39) |
E168G |
probably damaging |
Het |
| Rspry1 |
A |
G |
8: 95,376,444 (GRCm39) |
N322S |
probably benign |
Het |
| Slc7a9 |
T |
A |
7: 35,156,485 (GRCm39) |
V309E |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,548 (GRCm39) |
|
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,227 (GRCm39) |
M103K |
probably damaging |
Het |
| Tbxas1 |
T |
A |
6: 38,925,561 (GRCm39) |
F59I |
probably damaging |
Het |
| Tfpi |
A |
G |
2: 84,274,378 (GRCm39) |
S203P |
probably benign |
Het |
| Tram2 |
T |
C |
1: 21,074,083 (GRCm39) |
N285S |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,846,896 (GRCm39) |
D980V |
probably damaging |
Het |
| Trpv5 |
T |
A |
6: 41,637,229 (GRCm39) |
H419L |
probably damaging |
Het |
| Usp28 |
C |
T |
9: 48,943,543 (GRCm39) |
R361* |
probably null |
Het |
| Vmn1r6 |
T |
A |
6: 56,979,674 (GRCm39) |
L112* |
probably null |
Het |
| Vmn2r12 |
A |
T |
5: 109,240,025 (GRCm39) |
N179K |
probably benign |
Het |
| Vmn2r82 |
G |
T |
10: 79,214,691 (GRCm39) |
A225S |
probably benign |
Het |
| Zcchc4 |
A |
G |
5: 52,965,698 (GRCm39) |
Y334C |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,116 (GRCm39) |
E949G |
possibly 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 |
|
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 |
|
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 |
Incidental Mutation