Incidental Mutation 'IGL01365:Ptar1'
| ID |
75910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ptar1
|
| Ensembl Gene |
ENSMUSG00000074925 |
| Gene Name |
protein prenyltransferase alpha subunit repeat containing 1 |
| Synonyms |
4930428J16Rik, 2010013L17Rik, 1700084D09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.934)
|
| Stock # |
IGL01365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
23664793-23709032 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23683165 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 140
(W140R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099560]
|
| AlphaFold |
A0A494B9V8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099560
AA Change: W140R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097156
Gene: ENSMUSG00000074925
AA Change: W140R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
| Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
| Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
| Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
| Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
| Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
| Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
| Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
| Other mutations in Ptar1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R3114:Ptar1
|
UTSW |
19 |
23,695,459 (GRCm39) |
missense |
probably benign |
0.15 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation