Incidental Mutation 'IGL02568:Cept1'
| ID |
298923 |
| 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 # |
IGL02568
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106411035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 386
(R386H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112509
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000183271]
[ENSMUST00000192438]
|
| AlphaFold |
Q8BGS7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029508
|
| SMART Domains |
Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
uDENN
|
47 |
139 |
4.15e-27 |
SMART |
|
DENN
|
146 |
330 |
8.1e-71 |
SMART |
|
dDENN
|
368 |
435 |
3.38e-18 |
SMART |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039153
AA Change: R386H
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: R386H
| 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
AA Change: R386H
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: R386H
| 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
AA Change: R386H
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: R386H
| 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: ENSMUST00000183271
|
| SMART Domains |
Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
uDENN
|
57 |
149 |
4.15e-27 |
SMART |
|
DENN
|
156 |
340 |
8.1e-71 |
SMART |
|
dDENN
|
378 |
445 |
3.38e-18 |
SMART |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
A |
G |
15: 91,033,184 (GRCm39) |
|
probably benign |
Het |
| Abcg5 |
C |
T |
17: 84,977,827 (GRCm39) |
R143Q |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,129,711 (GRCm39) |
T150I |
probably benign |
Het |
| Arhgap32 |
T |
C |
9: 32,158,490 (GRCm39) |
V175A |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,766,721 (GRCm39) |
E208G |
probably benign |
Het |
| C2 |
T |
A |
17: 35,083,325 (GRCm39) |
D518V |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,820,646 (GRCm39) |
C552* |
probably null |
Het |
| Ccdc38 |
A |
T |
10: 93,415,685 (GRCm39) |
D447V |
probably damaging |
Het |
| Comt |
A |
G |
16: 18,230,454 (GRCm39) |
V85A |
probably damaging |
Het |
| Ddx24 |
G |
T |
12: 103,383,571 (GRCm39) |
L627I |
probably damaging |
Het |
| Efemp1 |
T |
C |
11: 28,866,971 (GRCm39) |
|
probably null |
Het |
| Etf1 |
T |
C |
18: 35,046,714 (GRCm39) |
T99A |
possibly damaging |
Het |
| Fhad1 |
T |
C |
4: 141,660,105 (GRCm39) |
E68G |
probably null |
Het |
| Fzd3 |
C |
A |
14: 65,473,389 (GRCm39) |
|
probably benign |
Het |
| Gins3 |
T |
C |
8: 96,364,606 (GRCm39) |
F119L |
probably benign |
Het |
| Golga5 |
G |
T |
12: 102,438,338 (GRCm39) |
V18L |
probably benign |
Het |
| Il16 |
C |
A |
7: 83,310,484 (GRCm39) |
R474M |
probably damaging |
Het |
| Itpr1 |
C |
A |
6: 108,316,515 (GRCm39) |
Q71K |
possibly damaging |
Het |
| Kif21b |
T |
G |
1: 136,100,605 (GRCm39) |
L1562R |
probably damaging |
Het |
| Lamc2 |
T |
C |
1: 153,042,008 (GRCm39) |
E42G |
possibly damaging |
Het |
| Mmp3 |
T |
G |
9: 7,446,001 (GRCm39) |
L35R |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,452,780 (GRCm39) |
G94W |
probably damaging |
Het |
| Nccrp1 |
G |
A |
7: 28,243,905 (GRCm39) |
A226V |
probably damaging |
Het |
| Nckap5l |
A |
G |
15: 99,323,564 (GRCm39) |
Y980H |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,911,277 (GRCm39) |
S1345P |
probably damaging |
Het |
| Nop2 |
T |
C |
6: 125,117,813 (GRCm39) |
S455P |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,036,263 (GRCm39) |
F689S |
probably damaging |
Het |
| Or5b112 |
T |
C |
19: 13,319,583 (GRCm39) |
F154L |
probably benign |
Het |
| Plekhm1 |
T |
A |
11: 103,285,876 (GRCm39) |
E186D |
probably damaging |
Het |
| Plxdc1 |
T |
C |
11: 97,869,390 (GRCm39) |
Q66R |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,544,406 (GRCm39) |
Y1799D |
probably damaging |
Het |
| Rasa2 |
A |
G |
9: 96,462,563 (GRCm39) |
F220L |
probably damaging |
Het |
| Rftn1 |
T |
C |
17: 50,344,027 (GRCm39) |
D87G |
probably damaging |
Het |
| Rgs6 |
C |
T |
12: 83,117,376 (GRCm39) |
T266M |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,326,054 (GRCm39) |
Y1208H |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,648 (GRCm39) |
V428L |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
A |
4: 58,135,441 (GRCm39) |
T556S |
probably benign |
Het |
| Tanc2 |
T |
A |
11: 105,667,777 (GRCm39) |
N119K |
probably benign |
Het |
| Tpgs1 |
T |
A |
10: 79,505,238 (GRCm39) |
|
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,370 (GRCm39) |
E88G |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,204 (GRCm39) |
V261A |
probably benign |
Het |
| Usp18 |
C |
T |
6: 121,238,050 (GRCm39) |
T143I |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,792,812 (GRCm39) |
I713T |
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation