Incidental Mutation 'R6591:Chpt1'
| ID |
524588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chpt1
|
| Ensembl Gene |
ENSMUSG00000060002 |
| Gene Name |
choline phosphotransferase 1 |
| Synonyms |
|
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
105.008 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88305376-88339855 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 88321762 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020253]
[ENSMUST00000073783]
[ENSMUST00000117440]
[ENSMUST00000117579]
[ENSMUST00000126074]
[ENSMUST00000139109]
|
| AlphaFold |
Q8C025 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020253
|
| SMART Domains |
Protein: ENSMUSP00000020253
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
59 |
183 |
1e-24 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
282 |
N/A |
INTRINSIC |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073783
|
| SMART Domains |
Protein: ENSMUSP00000073455
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
59 |
184 |
1.7e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117440
|
| SMART Domains |
Protein: ENSMUSP00000112708
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
61 |
136 |
8.8e-18 |
PFAM |
|
transmembrane domain
|
159 |
181 |
N/A |
INTRINSIC |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
282 |
N/A |
INTRINSIC |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000117579
AA Change: N225K
|
| SMART Domains |
Protein: ENSMUSP00000113179
Gene: ENSMUSG00000060002
AA Change: N225K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
59 |
186 |
2.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126074
|
| SMART Domains |
Protein: ENSMUSP00000123429
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
59 |
206 |
1.7e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139109
|
| SMART Domains |
Protein: ENSMUSP00000116413
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
Pfam:CDP-OH_P_transf
|
59 |
183 |
1e-24 |
PFAM |
|
transmembrane domain
|
191 |
213 |
N/A |
INTRINSIC |
|
transmembrane domain
|
226 |
248 |
N/A |
INTRINSIC |
|
transmembrane domain
|
263 |
282 |
N/A |
INTRINSIC |
|
transmembrane domain
|
295 |
317 |
N/A |
INTRINSIC |
|
transmembrane domain
|
349 |
371 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143108
|
| SMART Domains |
Protein: ENSMUSP00000117620
Gene: ENSMUSG00000060002
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CDP-OH_P_transf
|
27 |
102 |
1.9e-18 |
PFAM |
|
transmembrane domain
|
125 |
147 |
N/A |
INTRINSIC |
|
transmembrane domain
|
157 |
179 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Chpt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0828:Chpt1
|
UTSW |
10 |
88,312,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Chpt1
|
UTSW |
10 |
88,312,966 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4271:Chpt1
|
UTSW |
10 |
88,317,214 (GRCm39) |
unclassified |
probably benign |
|
|
R5411:Chpt1
|
UTSW |
10 |
88,312,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Chpt1
|
UTSW |
10 |
88,339,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Chpt1
|
UTSW |
10 |
88,318,145 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6144:Chpt1
|
UTSW |
10 |
88,288,955 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6291:Chpt1
|
UTSW |
10 |
88,311,306 (GRCm39) |
nonsense |
probably null |
|
|
R6691:Chpt1
|
UTSW |
10 |
88,321,762 (GRCm39) |
intron |
probably benign |
|
|
R6988:Chpt1
|
UTSW |
10 |
88,324,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Chpt1
|
UTSW |
10 |
88,316,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7381:Chpt1
|
UTSW |
10 |
88,311,193 (GRCm39) |
splice site |
probably null |
|
|
R7472:Chpt1
|
UTSW |
10 |
88,312,230 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7590:Chpt1
|
UTSW |
10 |
88,316,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8241:Chpt1
|
UTSW |
10 |
88,288,953 (GRCm39) |
missense |
|
|
|
R8822:Chpt1
|
UTSW |
10 |
88,324,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Chpt1
|
UTSW |
10 |
88,312,943 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9572:Chpt1
|
UTSW |
10 |
88,316,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Chpt1
|
UTSW |
10 |
88,325,499 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9716:Chpt1
|
UTSW |
10 |
88,339,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGAGATGCCTTGGTTC -3'
(R):5'- AACTCGAGAGCTGTGGCCTT -3'
Sequencing Primer
(F):5'- ATGCCTTGGTTCAGAGCTAAGAC -3'
(R):5'- CTGAACTTTGGGGTTTCAAAAGCTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation