Incidental Mutation 'R6106:Cept1'
| ID |
485497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cept1
|
| Ensembl Gene |
ENSMUSG00000040774 |
| Gene Name |
choline/ethanolaminephosphotransferase 1 |
| Synonyms |
9930118K05Rik |
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.943)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106410992 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 400
(H400Q)
|
| 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: H400Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000037277
Gene: ENSMUSG00000040774
AA Change: H400Q
| 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: H400Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000065743
Gene: ENSMUSG00000040774
AA Change: H400Q
| 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: H400Q
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000112509
Gene: ENSMUSG00000040774
AA Change: H400Q
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
| Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
| Setdb2 |
T |
A |
14: 59,660,898 (GRCm39) |
K82* |
probably null |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
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 |
|
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 |
|
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'- CAGGACAGTTAGGGAGTGTTACC -3'
(R):5'- GGAGGCAATTGATTTACTCAACTG -3'
Sequencing Primer
(F):5'- CAGTTAGGGAGTGTTACCAGTAAC -3'
(R):5'- CTCAACTGTATGAAATCGAAAGGTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation