Incidental Mutation 'R1313:Psapl1'
| ID |
157992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psapl1
|
| Ensembl Gene |
ENSMUSG00000043430 |
| Gene Name |
prosaposin-like 1 |
| Synonyms |
2310020A21Rik |
| MMRRC Submission |
039379-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R1313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36361365-36363912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36362610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 401
(Q401K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100594
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037370]
[ENSMUST00000052224]
[ENSMUST00000070720]
[ENSMUST00000135324]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037370
|
| SMART Domains |
Protein: ENSMUSP00000041828
Gene: ENSMUSG00000029093
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
130 |
N/A |
INTRINSIC |
|
VPS10
|
170 |
780 |
N/A |
SMART |
|
PKD
|
782 |
872 |
7.27e-2 |
SMART |
|
transmembrane domain
|
1078 |
1100 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052224
AA Change: Q401K
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: Q401K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SAPA
|
25 |
58 |
1.19e-12 |
SMART |
|
SapB
|
65 |
143 |
9.63e-7 |
SMART |
|
SapB
|
188 |
260 |
8.51e-8 |
SMART |
|
SapB
|
296 |
370 |
9.82e-22 |
SMART |
|
SapB
|
398 |
473 |
8.37e-16 |
SMART |
|
SAPA
|
482 |
515 |
2.01e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070720
|
| SMART Domains |
Protein: ENSMUSP00000065292
Gene: ENSMUSG00000029093
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
103 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
130 |
N/A |
INTRINSIC |
|
Blast:VPS10
|
170 |
213 |
2e-22 |
BLAST |
|
low complexity region
|
214 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135324
|
| SMART Domains |
Protein: ENSMUSP00000123543
Gene: ENSMUSG00000029093
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eur__
|
1 |
111 |
2e-3 |
SMART |
|
Blast:VPS10
|
1 |
173 |
1e-126 |
BLAST |
|
PDB:4N7E|A
|
6 |
117 |
1e-8 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137040
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141508
|
| Coding Region Coverage |
- 1x: 98.5%
- 3x: 97.1%
- 10x: 91.4%
- 20x: 77.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is related to the glycoprotein prosaposin. Based on sequence similarity between the encoded protein and prosaposin, it is predicted that the encoded protein is a preproprotein that is proteolytically processed to generate multiple protein products. These predicted products include saposins A-like, B-like, C-like, and D-like, which may play a role in the lysosomal degradation of sphingolipids. [provided by RefSeq, Jul 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankle1 |
A |
G |
8: 71,859,857 (GRCm39) |
E145G |
possibly damaging |
Het |
| Bltp2 |
A |
G |
11: 78,156,498 (GRCm39) |
T226A |
probably benign |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Cep250 |
C |
T |
2: 155,813,999 (GRCm39) |
A589V |
probably damaging |
Het |
| Clhc1 |
A |
G |
11: 29,521,678 (GRCm39) |
I404V |
probably benign |
Het |
| Ddi1 |
T |
C |
9: 6,265,769 (GRCm39) |
E200G |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,550 (GRCm39) |
S1236P |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,561,133 (GRCm39) |
I550V |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,422,341 (GRCm39) |
|
probably benign |
Het |
| Ints1 |
T |
C |
5: 139,748,661 (GRCm39) |
T1049A |
probably benign |
Het |
| Lilrb4b |
C |
T |
10: 51,356,832 (GRCm39) |
T6I |
probably benign |
Het |
| Mocs1 |
A |
T |
17: 49,761,297 (GRCm39) |
T464S |
probably benign |
Het |
| Myo15b |
T |
C |
11: 115,775,955 (GRCm39) |
S816P |
probably damaging |
Het |
| Ogfr |
T |
C |
2: 180,236,423 (GRCm39) |
L336P |
probably benign |
Het |
| Or5p53 |
A |
T |
7: 107,532,975 (GRCm39) |
M83L |
probably benign |
Het |
| Sh3rf3 |
C |
A |
10: 58,907,821 (GRCm39) |
Q450K |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stat1 |
C |
T |
1: 52,195,165 (GRCm39) |
T720I |
probably damaging |
Het |
|
| Other mutations in Psapl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Psapl1
|
APN |
5 |
36,362,975 (GRCm39) |
missense |
probably benign |
|
|
IGL01873:Psapl1
|
APN |
5 |
36,362,569 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02590:Psapl1
|
APN |
5 |
36,362,397 (GRCm39) |
missense |
probably benign |
|
|
IGL02931:Psapl1
|
APN |
5 |
36,362,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0138:Psapl1
|
UTSW |
5 |
36,361,975 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0570:Psapl1
|
UTSW |
5 |
36,361,624 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1313:Psapl1
|
UTSW |
5 |
36,362,610 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2207:Psapl1
|
UTSW |
5 |
36,362,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2247:Psapl1
|
UTSW |
5 |
36,362,410 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4792:Psapl1
|
UTSW |
5 |
36,362,547 (GRCm39) |
missense |
probably benign |
|
|
R4865:Psapl1
|
UTSW |
5 |
36,362,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5101:Psapl1
|
UTSW |
5 |
36,361,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5947:Psapl1
|
UTSW |
5 |
36,361,651 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6015:Psapl1
|
UTSW |
5 |
36,361,594 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6751:Psapl1
|
UTSW |
5 |
36,362,303 (GRCm39) |
nonsense |
probably null |
|
|
R7260:Psapl1
|
UTSW |
5 |
36,362,556 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8112:Psapl1
|
UTSW |
5 |
36,362,919 (GRCm39) |
missense |
probably benign |
|
|
R8852:Psapl1
|
UTSW |
5 |
36,362,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Psapl1
|
UTSW |
5 |
36,362,880 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Psapl1
|
UTSW |
5 |
36,362,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCTCATGTCCAAAGTCACCC -3'
(R):5'- GACGCACTGATCTGTGCCTAGAAG -3'
Sequencing Primer
(F):5'- TCACCCCAGAGAAAGTATGTG -3'
(R):5'- GTTCATCATGAACTTGAGGCTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation