Incidental Mutation 'R3909:Prps1l1'
| ID |
309314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prps1l1
|
| Ensembl Gene |
ENSMUSG00000092305 |
| Gene Name |
phosphoribosyl pyrophosphate synthetase 1-like 1 |
| Synonyms |
1700011K15Rik |
| MMRRC Submission |
040814-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R3909 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
35034760-35036435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 35035797 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 304
(H304L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000134550]
|
| AlphaFold |
Q8C5R8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134550
AA Change: H304L
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133931
Gene: ENSMUSG00000092305
AA Change: H304L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pribosyltran_N
|
4 |
120 |
7.1e-49 |
PFAM |
|
Pfam:Pribosyltran
|
139 |
261 |
1.5e-15 |
PFAM |
|
Pfam:Pribosyl_synth
|
200 |
314 |
2.8e-39 |
PFAM |
|
| Meta Mutation Damage Score |
0.4476 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,625,125 (GRCm39) |
F501Y |
probably damaging |
Het |
| Alk |
T |
C |
17: 72,204,906 (GRCm39) |
T1089A |
probably benign |
Het |
| Ankrd12 |
G |
T |
17: 66,291,000 (GRCm39) |
P1478T |
probably benign |
Het |
| Arhgap39 |
A |
G |
15: 76,636,088 (GRCm39) |
V49A |
probably benign |
Het |
| Arid4b |
T |
C |
13: 14,307,069 (GRCm39) |
L108P |
probably damaging |
Het |
| Atrn |
T |
A |
2: 130,836,127 (GRCm39) |
C1136S |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,012,007 (GRCm39) |
M483K |
probably damaging |
Het |
| Cacng1 |
C |
A |
11: 107,607,118 (GRCm39) |
V34L |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,970 (GRCm39) |
S446P |
probably damaging |
Het |
| Cngb3 |
G |
A |
4: 19,461,679 (GRCm39) |
C520Y |
probably damaging |
Het |
| Crim1 |
C |
T |
17: 78,588,668 (GRCm39) |
|
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbxl17 |
G |
A |
17: 63,806,802 (GRCm39) |
P71S |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,647,072 (GRCm39) |
G1482R |
probably damaging |
Het |
| Gbp3 |
C |
T |
3: 142,272,099 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,387,804 (GRCm39) |
D1642G |
possibly damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,703 (GRCm39) |
V67M |
probably damaging |
Het |
| Hyls1 |
T |
C |
9: 35,472,705 (GRCm39) |
D237G |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,706,624 (GRCm39) |
N1396D |
probably benign |
Het |
| Lasp1 |
G |
A |
11: 97,690,653 (GRCm39) |
V12M |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Muc5b |
C |
T |
7: 141,403,235 (GRCm39) |
T732M |
unknown |
Het |
| Mxd1 |
G |
T |
6: 86,627,942 (GRCm39) |
Q199K |
probably benign |
Het |
| Or14a258 |
T |
A |
7: 86,035,182 (GRCm39) |
T229S |
probably benign |
Het |
| Or4a78 |
T |
C |
2: 89,497,357 (GRCm39) |
E291G |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,031 (GRCm39) |
F95L |
probably benign |
Het |
| Or5w20 |
T |
A |
2: 87,727,293 (GRCm39) |
|
probably null |
Het |
| Psmd2 |
A |
G |
16: 20,474,392 (GRCm39) |
D316G |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,006,229 (GRCm39) |
T917I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,466,953 (GRCm39) |
D4704G |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,104,332 (GRCm39) |
I1643F |
probably damaging |
Het |
| Vmn2r38 |
T |
C |
7: 9,078,553 (GRCm39) |
K610E |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,255,806 (GRCm39) |
F1486L |
probably benign |
Het |
|
| Other mutations in Prps1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01318:Prps1l1
|
APN |
12 |
35,035,377 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01375:Prps1l1
|
APN |
12 |
35,035,631 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0379:Prps1l1
|
UTSW |
12 |
35,035,077 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2109:Prps1l1
|
UTSW |
12 |
35,035,521 (GRCm39) |
missense |
probably benign |
|
|
R6129:Prps1l1
|
UTSW |
12 |
35,035,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7284:Prps1l1
|
UTSW |
12 |
35,035,317 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7295:Prps1l1
|
UTSW |
12 |
35,035,679 (GRCm39) |
missense |
probably benign |
|
|
R7374:Prps1l1
|
UTSW |
12 |
35,035,424 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8118:Prps1l1
|
UTSW |
12 |
35,035,340 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8240:Prps1l1
|
UTSW |
12 |
35,035,140 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8968:Prps1l1
|
UTSW |
12 |
35,035,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:Prps1l1
|
UTSW |
12 |
35,035,546 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9416:Prps1l1
|
UTSW |
12 |
35,035,089 (GRCm39) |
missense |
|
|
|
R9463:Prps1l1
|
UTSW |
12 |
35,035,559 (GRCm39) |
missense |
probably damaging |
0.98 |
|
RF004:Prps1l1
|
UTSW |
12 |
35,035,398 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Prps1l1
|
UTSW |
12 |
35,035,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTACGCGGCGGACAAACTTC -3'
(R):5'- ACAATCCCCTATCTACTGAGGC -3'
Sequencing Primer
(F):5'- GGAGCTACCAGAGTTTATGCCATC -3'
(R):5'- TATCTACTGAGGCCACGGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation