Incidental Mutation 'R2429:Prpsap1'
| ID |
250354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prpsap1
|
| Ensembl Gene |
ENSMUSG00000015869 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase-associated protein 1 |
| Synonyms |
PAP39, 5730409F23Rik |
| MMRRC Submission |
040391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R2429 (G1)
|
| Quality Score |
127 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
116361671-116385461 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 116363061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 314
(T314M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000106391]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106391
AA Change: T314M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101999
Gene: ENSMUSG00000015869
AA Change: T314M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
34 |
N/A |
INTRINSIC |
|
Pfam:Pribosyltran_N
|
38 |
155 |
4.8e-41 |
PFAM |
|
Pfam:Pribosyl_synth
|
196 |
379 |
1.1e-102 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125269
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152874
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930470P17Rik |
A |
T |
2: 170,421,745 (GRCm39) |
M45K |
unknown |
Het |
| Abcd3 |
A |
G |
3: 121,586,512 (GRCm39) |
F63L |
probably damaging |
Het |
| Acsm3 |
A |
T |
7: 119,367,223 (GRCm39) |
M19L |
probably benign |
Het |
| Actn4 |
T |
C |
7: 28,597,496 (GRCm39) |
K41E |
probably benign |
Het |
| Atp8b3 |
T |
A |
10: 80,362,728 (GRCm39) |
I677L |
probably benign |
Het |
| Auh |
C |
T |
13: 53,073,052 (GRCm39) |
G110R |
probably damaging |
Het |
| Batf2 |
A |
G |
19: 6,221,538 (GRCm39) |
Y116C |
probably damaging |
Het |
| Cntn6 |
T |
C |
6: 104,627,526 (GRCm39) |
Y120H |
possibly damaging |
Het |
| Gnpat |
T |
C |
8: 125,603,758 (GRCm39) |
F212S |
probably damaging |
Het |
| Gpd1 |
A |
G |
15: 99,618,488 (GRCm39) |
M181V |
probably benign |
Het |
| Itgb3 |
A |
T |
11: 104,527,914 (GRCm39) |
K216N |
probably damaging |
Het |
| Kif21a |
G |
A |
15: 90,882,208 (GRCm39) |
T32M |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,326,377 (GRCm39) |
V3477A |
probably damaging |
Het |
| Mettl13 |
A |
T |
1: 162,373,894 (GRCm39) |
L119* |
probably null |
Het |
| Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,194,723 (GRCm39) |
N1645D |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,210,583 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,731,006 (GRCm39) |
Y312F |
probably damaging |
Het |
| Pla2r1 |
C |
A |
2: 60,345,312 (GRCm39) |
C348F |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,179,362 (GRCm39) |
N590S |
probably damaging |
Het |
| Prss35 |
T |
C |
9: 86,637,398 (GRCm39) |
V56A |
probably benign |
Het |
| Setx |
T |
C |
2: 29,069,910 (GRCm39) |
S2572P |
probably benign |
Het |
| Sf3b1 |
T |
C |
1: 55,055,960 (GRCm39) |
D93G |
possibly damaging |
Het |
| Slc26a7 |
C |
A |
4: 14,506,399 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
T |
G |
2: 14,409,897 (GRCm39) |
S298A |
probably benign |
Het |
| Sorl1 |
G |
T |
9: 41,948,366 (GRCm39) |
D806E |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,526,781 (GRCm39) |
K43E |
possibly damaging |
Het |
| Trmt1l |
T |
A |
1: 151,309,581 (GRCm39) |
L88Q |
probably damaging |
Het |
| Zfp334 |
G |
A |
2: 165,222,432 (GRCm39) |
T537I |
probably damaging |
Het |
| Zfp574 |
T |
A |
7: 24,779,482 (GRCm39) |
L168* |
probably null |
Het |
|
| Other mutations in Prpsap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0042:Prpsap1
|
UTSW |
11 |
116,370,482 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0684:Prpsap1
|
UTSW |
11 |
116,362,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1538:Prpsap1
|
UTSW |
11 |
116,370,534 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3415:Prpsap1
|
UTSW |
11 |
116,369,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3417:Prpsap1
|
UTSW |
11 |
116,369,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4035:Prpsap1
|
UTSW |
11 |
116,363,834 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5223:Prpsap1
|
UTSW |
11 |
116,378,974 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6216:Prpsap1
|
UTSW |
11 |
116,362,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Prpsap1
|
UTSW |
11 |
116,362,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Prpsap1
|
UTSW |
11 |
116,368,109 (GRCm39) |
missense |
probably benign |
|
|
R7159:Prpsap1
|
UTSW |
11 |
116,384,870 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7999:Prpsap1
|
UTSW |
11 |
116,381,042 (GRCm39) |
start codon destroyed |
probably null |
|
|
R8414:Prpsap1
|
UTSW |
11 |
116,369,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Prpsap1
|
UTSW |
11 |
116,370,615 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9364:Prpsap1
|
UTSW |
11 |
116,385,015 (GRCm39) |
start gained |
probably benign |
|
|
Z1176:Prpsap1
|
UTSW |
11 |
116,370,594 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Prpsap1
|
UTSW |
11 |
116,369,444 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGTACCACATGTGACTCTAATG -3'
(R):5'- TGACCCACGTGTGAGAGAAG -3'
Sequencing Primer
(F):5'- CCACATGTGACTCTAATGACATG -3'
(R):5'- AGAAGAGCAGGGACTTGTGTCTTTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation