Incidental Mutation 'R5506:Cept1'
ID |
430908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cept1
|
Ensembl Gene |
ENSMUSG00000040774 |
Gene Name |
choline/ethanolaminephosphotransferase 1 |
Synonyms |
9930118K05Rik |
MMRRC Submission |
043067-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.943)
|
Stock # |
R5506 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
106409576-106455118 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106438564 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 173
(V173A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112509
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039153]
[ENSMUST00000068301]
[ENSMUST00000121231]
[ENSMUST00000137530]
[ENSMUST00000148269]
[ENSMUST00000192438]
|
AlphaFold |
Q8BGS7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039153
AA Change: V173A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000037277 Gene: ENSMUSG00000040774 AA Change: V173A
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: V173A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000065743 Gene: ENSMUSG00000040774 AA Change: V173A
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: V173A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000112509 Gene: ENSMUSG00000040774 AA Change: V173A
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 |
|
Meta Mutation Damage Score |
0.0671 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
T |
3: 137,773,708 (GRCm39) |
G966W |
probably damaging |
Het |
A930009A15Rik |
G |
T |
10: 115,414,267 (GRCm39) |
|
probably null |
Het |
Cant1 |
G |
T |
11: 118,302,268 (GRCm39) |
H16Q |
probably benign |
Het |
Capn3 |
G |
T |
2: 120,332,901 (GRCm39) |
V612F |
probably damaging |
Het |
Cep112 |
A |
T |
11: 108,555,429 (GRCm39) |
E141D |
probably damaging |
Het |
CN725425 |
A |
G |
15: 91,120,029 (GRCm39) |
D50G |
possibly damaging |
Het |
Cubn |
A |
T |
2: 13,496,506 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Dpp8 |
A |
G |
9: 64,985,391 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,169 (GRCm39) |
T377I |
probably benign |
Het |
Exosc8 |
A |
G |
3: 54,638,600 (GRCm39) |
|
probably benign |
Het |
Fasn |
C |
T |
11: 120,700,336 (GRCm39) |
D2165N |
probably benign |
Het |
Gab2 |
A |
G |
7: 96,952,320 (GRCm39) |
E571G |
probably damaging |
Het |
Galnt5 |
C |
A |
2: 57,889,637 (GRCm39) |
H412Q |
probably benign |
Het |
Galr1 |
T |
A |
18: 82,423,989 (GRCm39) |
Y96F |
possibly damaging |
Het |
Garin1b |
G |
A |
6: 29,319,297 (GRCm39) |
E34K |
probably damaging |
Het |
Gnl2 |
C |
A |
4: 124,949,158 (GRCm39) |
|
probably benign |
Het |
H2ac22 |
A |
C |
13: 21,971,081 (GRCm39) |
I103S |
probably damaging |
Het |
H2ax |
T |
C |
9: 44,246,402 (GRCm39) |
V115A |
probably benign |
Het |
Heatr9 |
T |
C |
11: 83,405,592 (GRCm39) |
N317S |
possibly damaging |
Het |
Kndc1 |
A |
G |
7: 139,507,804 (GRCm39) |
Y1254C |
probably damaging |
Het |
Lrp6 |
A |
T |
6: 134,436,259 (GRCm39) |
D1302E |
probably benign |
Het |
Mc2r |
A |
T |
18: 68,541,019 (GRCm39) |
Y91* |
probably null |
Het |
Meis1 |
T |
G |
11: 18,891,747 (GRCm39) |
D267A |
possibly damaging |
Het |
Mki67 |
T |
C |
7: 135,301,710 (GRCm39) |
K1108R |
possibly damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Myh3 |
T |
G |
11: 66,974,915 (GRCm39) |
D219E |
probably damaging |
Het |
Niban2 |
G |
A |
2: 32,810,994 (GRCm39) |
V335M |
probably damaging |
Het |
Or10g1b |
T |
C |
14: 52,628,084 (GRCm39) |
I49V |
probably damaging |
Het |
Or7e166 |
T |
C |
9: 19,624,570 (GRCm39) |
L149P |
possibly damaging |
Het |
Pi4ka |
A |
G |
16: 17,111,817 (GRCm39) |
C1553R |
probably damaging |
Het |
Plekhb1 |
C |
A |
7: 100,294,150 (GRCm39) |
|
probably null |
Het |
Polr3d |
A |
T |
14: 70,678,199 (GRCm39) |
D165E |
possibly damaging |
Het |
Prb1c |
T |
C |
6: 132,338,819 (GRCm39) |
N133S |
unknown |
Het |
Psmb1 |
A |
G |
17: 15,710,478 (GRCm39) |
Y24H |
probably damaging |
Het |
Rab11fip5 |
A |
G |
6: 85,351,119 (GRCm39) |
L131P |
probably damaging |
Het |
Raph1 |
A |
T |
1: 60,532,657 (GRCm39) |
|
probably benign |
Het |
Rmc1 |
A |
G |
18: 12,322,013 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
T |
G |
7: 33,711,484 (GRCm39) |
|
probably benign |
Het |
Serpina10 |
T |
C |
12: 103,592,920 (GRCm39) |
D264G |
probably damaging |
Het |
Sftpb |
A |
G |
6: 72,281,651 (GRCm39) |
T15A |
possibly damaging |
Het |
Slc20a1 |
T |
C |
2: 129,052,739 (GRCm39) |
F674L |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,985,495 (GRCm39) |
N1648Y |
probably benign |
Het |
Thsd7a |
G |
T |
6: 12,332,016 (GRCm39) |
N1265K |
possibly damaging |
Het |
Trem2 |
T |
C |
17: 48,658,802 (GRCm39) |
L189P |
probably benign |
Het |
Washc4 |
A |
T |
10: 83,417,201 (GRCm39) |
R865S |
probably damaging |
Het |
Zfp536 |
A |
G |
7: 37,268,217 (GRCm39) |
S400P |
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 |
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 |
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'- GCACTTCATTTCCAAAGGAATACAG -3'
(R):5'- ACTTTGCTTCAGCTAAATGACC -3'
Sequencing Primer
(F):5'- TTCATTTCCAAAGGAATACAGAGAGG -3'
(R):5'- TCTGTATCTCATCTAAGGTGA -3'
|
Posted On |
2016-10-05 |