Incidental Mutation 'R4861:Cept1'
ID |
380243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cept1
|
Ensembl Gene |
ENSMUSG00000040774 |
Gene Name |
choline/ethanolaminephosphotransferase 1 |
Synonyms |
9930118K05Rik |
MMRRC Submission |
042472-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R4861 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 106413048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 226
(S226A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142097
(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 |
possibly damaging
Transcript: ENSMUST00000039153
AA Change: S279A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037277 Gene: ENSMUSG00000040774 AA Change: S279A
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 |
possibly damaging
Transcript: ENSMUST00000068301
AA Change: S279A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000065743 Gene: ENSMUSG00000040774 AA Change: S279A
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 |
possibly damaging
Transcript: ENSMUST00000121231
AA Change: S279A
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000112509 Gene: ENSMUSG00000040774 AA Change: S279A
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 damaging
Transcript: ENSMUST00000192438
AA Change: S226A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000142097 Gene: ENSMUSG00000040774 AA Change: S226A
Domain | Start | End | E-Value | Type |
Pfam:CDP-OH_P_transf
|
81 |
215 |
2.3e-20 |
PFAM |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2675 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.2%
- 20x: 84.7%
|
Validation Efficiency |
100% (53/53) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,076,249 (GRCm39) |
R1153H |
probably damaging |
Het |
Ahcy |
T |
C |
2: 154,902,436 (GRCm39) |
E411G |
probably benign |
Het |
Alpi |
T |
A |
1: 87,028,191 (GRCm39) |
I211F |
probably damaging |
Het |
Arfgef3 |
G |
A |
10: 18,483,479 (GRCm39) |
A1415V |
probably benign |
Het |
Car3 |
T |
C |
3: 14,931,956 (GRCm39) |
V109A |
probably damaging |
Het |
Cdk13 |
A |
T |
13: 17,941,171 (GRCm39) |
V17D |
probably damaging |
Het |
Dbt |
A |
T |
3: 116,341,727 (GRCm39) |
I443L |
probably benign |
Het |
Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,533,141 (GRCm39) |
L633S |
probably damaging |
Het |
Frmd6 |
T |
G |
12: 70,940,500 (GRCm39) |
S382A |
probably damaging |
Het |
Gm26727 |
T |
C |
2: 67,263,289 (GRCm39) |
I79M |
probably damaging |
Het |
Gm5800 |
T |
A |
14: 51,953,504 (GRCm39) |
N37I |
probably damaging |
Het |
Hapln1 |
G |
A |
13: 89,749,571 (GRCm39) |
G39S |
possibly damaging |
Het |
Ice2 |
T |
A |
9: 69,322,730 (GRCm39) |
S408R |
probably benign |
Het |
Lctl |
T |
C |
9: 64,027,045 (GRCm39) |
I131T |
possibly damaging |
Het |
Mvk |
C |
T |
5: 114,598,258 (GRCm39) |
|
probably benign |
Het |
Mzt1 |
T |
C |
14: 99,284,910 (GRCm39) |
|
probably null |
Het |
Ncoa7 |
T |
A |
10: 30,580,608 (GRCm39) |
M117L |
probably benign |
Het |
Npy4r |
C |
T |
14: 33,868,840 (GRCm39) |
W149* |
probably null |
Het |
Nr5a2 |
A |
G |
1: 136,876,458 (GRCm39) |
|
probably null |
Het |
Odad1 |
A |
G |
7: 45,592,297 (GRCm39) |
E359G |
probably damaging |
Het |
Plg |
G |
A |
17: 12,614,622 (GRCm39) |
E301K |
probably benign |
Het |
Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 78,981,743 (GRCm39) |
K1084R |
probably benign |
Het |
Slc41a2 |
T |
C |
10: 83,152,322 (GRCm39) |
Q51R |
probably damaging |
Het |
Slc47a2 |
A |
T |
11: 61,227,059 (GRCm39) |
C170S |
probably benign |
Het |
Slco1b2 |
A |
T |
6: 141,616,948 (GRCm39) |
N427I |
possibly damaging |
Het |
Smc2 |
G |
A |
4: 52,461,090 (GRCm39) |
R571H |
probably benign |
Het |
Sp4 |
G |
T |
12: 118,264,546 (GRCm39) |
|
probably null |
Het |
Tas2r117 |
T |
C |
6: 132,780,092 (GRCm39) |
F77L |
probably benign |
Het |
Tbcd |
C |
T |
11: 121,492,787 (GRCm39) |
R875C |
probably damaging |
Het |
Thumpd2 |
A |
G |
17: 81,334,230 (GRCm39) |
S453P |
probably benign |
Het |
Vars2 |
G |
T |
17: 35,972,825 (GRCm39) |
Q13K |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTTGTGCCCATAGACAC -3'
(R):5'- GCCAGACCCTAGATCCATTCATAG -3'
Sequencing Primer
(F):5'- TGTTGTGCCCATAGACACAAAACATG -3'
(R):5'- CCCTAGATCCATTCATAGAGCTTTAC -3'
|
Posted On |
2016-04-15 |