Incidental Mutation 'R3114:Ptar1'
| ID |
263955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptar1
|
| Ensembl Gene |
ENSMUSG00000074925 |
| Gene Name |
protein prenyltransferase alpha subunit repeat containing 1 |
| Synonyms |
4930428J16Rik, 2010013L17Rik, 1700084D09Rik |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.939)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
23664793-23709032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23695459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 309
(C309S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099560]
|
| AlphaFold |
A0A494B9V8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099560
AA Change: C309S
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: C309S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PPTA
|
122 |
149 |
3.9e-8 |
PFAM |
|
Pfam:PPTA
|
180 |
207 |
5e-11 |
PFAM |
|
Pfam:PPTA
|
290 |
315 |
8e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.1022 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,442,858 (GRCm39) |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 123,297,221 (GRCm39) |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,966,291 (GRCm39) |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,265,442 (GRCm39) |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,052,542 (GRCm39) |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,345,772 (GRCm39) |
|
probably null |
Het |
| Espl1 |
T |
A |
15: 102,231,639 (GRCm39) |
F1945Y |
possibly damaging |
Het |
| Fzd5 |
A |
G |
1: 64,774,739 (GRCm39) |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 78,036,272 (GRCm39) |
E11D |
unknown |
Het |
| H3c3 |
C |
A |
13: 23,929,290 (GRCm39) |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,537,844 (GRCm39) |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,198,841 (GRCm39) |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 51,128,972 (GRCm39) |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,173,262 (GRCm39) |
T298S |
possibly damaging |
Het |
| Marchf1 |
A |
C |
8: 66,840,033 (GRCm39) |
H272P |
probably benign |
Het |
| Meak7 |
G |
A |
8: 120,495,056 (GRCm39) |
A234V |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,009,160 (GRCm39) |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,843,182 (GRCm39) |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,162,516 (GRCm39) |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,527,136 (GRCm39) |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,577,629 (GRCm39) |
|
probably benign |
Het |
| Or4a2 |
T |
A |
2: 89,248,757 (GRCm39) |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,144,860 (GRCm39) |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 37,086,603 (GRCm39) |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 110,084,792 (GRCm39) |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,776,328 (GRCm39) |
S89P |
probably damaging |
Het |
| Rint1 |
A |
G |
5: 24,024,418 (GRCm39) |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,447,079 (GRCm39) |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,535,023 (GRCm39) |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 32,067,106 (GRCm39) |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 82,919,955 (GRCm39) |
|
noncoding transcript |
Het |
| Spmip8 |
T |
C |
8: 96,039,809 (GRCm39) |
|
probably null |
Het |
| Sspn |
A |
T |
6: 145,880,095 (GRCm39) |
I66F |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,654,777 (GRCm39) |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,811,860 (GRCm39) |
S1715P |
probably damaging |
Het |
|
| Other mutations in Ptar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01365:Ptar1
|
APN |
19 |
23,683,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02608:Ptar1
|
APN |
19 |
23,683,076 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0134:Ptar1
|
UTSW |
19 |
23,695,459 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0225:Ptar1
|
UTSW |
19 |
23,695,459 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0395:Ptar1
|
UTSW |
19 |
23,697,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Ptar1
|
UTSW |
19 |
23,697,704 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1414:Ptar1
|
UTSW |
19 |
23,697,655 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4016:Ptar1
|
UTSW |
19 |
23,664,824 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4431:Ptar1
|
UTSW |
19 |
23,671,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Ptar1
|
UTSW |
19 |
23,680,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Ptar1
|
UTSW |
19 |
23,671,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5660:Ptar1
|
UTSW |
19 |
23,671,776 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5928:Ptar1
|
UTSW |
19 |
23,695,277 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6333:Ptar1
|
UTSW |
19 |
23,671,686 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6610:Ptar1
|
UTSW |
19 |
23,695,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6834:Ptar1
|
UTSW |
19 |
23,695,288 (GRCm39) |
missense |
probably benign |
|
|
R6915:Ptar1
|
UTSW |
19 |
23,680,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7381:Ptar1
|
UTSW |
19 |
23,686,334 (GRCm39) |
splice site |
probably null |
|
|
R7424:Ptar1
|
UTSW |
19 |
23,695,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Ptar1
|
UTSW |
19 |
23,697,680 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7884:Ptar1
|
UTSW |
19 |
23,686,158 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9072:Ptar1
|
UTSW |
19 |
23,695,414 (GRCm39) |
missense |
probably benign |
|
|
R9331:Ptar1
|
UTSW |
19 |
23,671,707 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9566:Ptar1
|
UTSW |
19 |
23,686,206 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGACAGTGCTGTACCGCAG -3'
(R):5'- GGGTGAACCTAAACCACAGG -3'
Sequencing Primer
(F):5'- GCAGCACAACTCTTTGAAAAGTG -3'
(R):5'- CCTCGAATTAACAAGGACAACGGTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation