Incidental Mutation 'IGL02590:Psapl1'
| ID |
299703 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psapl1
|
| Ensembl Gene |
ENSMUSG00000043430 |
| Gene Name |
prosaposin-like 1 |
| Synonyms |
2310020A21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
IGL02590
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36361365-36363912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36362397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 330
(T330S)
|
| 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: T330S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: T330S
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,184,404 (GRCm39) |
F118S |
probably damaging |
Het |
| Adam5 |
T |
G |
8: 25,234,151 (GRCm39) |
|
probably benign |
Het |
| Bok |
T |
C |
1: 93,614,397 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
C |
T |
6: 124,508,235 (GRCm39) |
V585I |
possibly damaging |
Het |
| Chd2 |
C |
T |
7: 73,102,948 (GRCm39) |
V1346I |
probably benign |
Het |
| Cyb5a |
A |
T |
18: 84,889,732 (GRCm39) |
T54S |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,162,937 (GRCm39) |
T428S |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,037,608 (GRCm39) |
Y262H |
probably damaging |
Het |
| Fyb2 |
A |
T |
4: 104,836,250 (GRCm39) |
I404F |
probably damaging |
Het |
| Glra2 |
T |
C |
X: 164,037,222 (GRCm39) |
N237S |
probably benign |
Het |
| Gypc |
A |
G |
18: 32,663,060 (GRCm39) |
*96R |
probably null |
Het |
| Il15 |
T |
C |
8: 83,069,912 (GRCm39) |
I51V |
probably benign |
Het |
| Itgb2 |
T |
C |
10: 77,395,347 (GRCm39) |
C483R |
probably damaging |
Het |
| Kdr |
C |
T |
5: 76,096,983 (GRCm39) |
D1272N |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,423,742 (GRCm39) |
T969K |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 146,993,810 (GRCm39) |
S261P |
probably damaging |
Het |
| Lrp1 |
C |
A |
10: 127,388,660 (GRCm39) |
G3263V |
probably damaging |
Het |
| Mid1 |
A |
G |
X: 168,710,019 (GRCm39) |
E5G |
probably damaging |
Het |
| Mmrn2 |
T |
A |
14: 34,121,224 (GRCm39) |
L698* |
probably null |
Het |
| Myh14 |
T |
G |
7: 44,273,503 (GRCm39) |
Q1393P |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,159 (GRCm39) |
E267K |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,491,517 (GRCm39) |
I19T |
possibly damaging |
Het |
| Or13a20 |
A |
G |
7: 140,232,305 (GRCm39) |
|
probably null |
Het |
| Or8k22 |
A |
G |
2: 86,163,344 (GRCm39) |
S119P |
possibly damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,041,752 (GRCm39) |
Y2128C |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,136,784 (GRCm39) |
D293G |
probably benign |
Het |
| Prpf4b |
T |
C |
13: 35,072,129 (GRCm39) |
|
probably benign |
Het |
| Rap1gap |
A |
G |
4: 137,447,611 (GRCm39) |
T453A |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,544,881 (GRCm39) |
|
probably benign |
Het |
| Robo1 |
A |
G |
16: 72,840,020 (GRCm39) |
E1590G |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,857 (GRCm39) |
V596I |
probably benign |
Het |
| Tlr12 |
A |
G |
4: 128,511,182 (GRCm39) |
I356T |
probably benign |
Het |
| Trav8d-2 |
T |
C |
14: 53,279,906 (GRCm39) |
S8P |
possibly damaging |
Het |
| Tyms |
C |
A |
5: 30,269,149 (GRCm39) |
V75L |
probably benign |
Het |
| Vmn1r230 |
T |
A |
17: 21,067,172 (GRCm39) |
S120R |
probably damaging |
Het |
| Vmn2r84 |
T |
A |
10: 130,227,356 (GRCm39) |
|
probably benign |
Het |
| Wdr27 |
C |
T |
17: 15,138,041 (GRCm39) |
A388T |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation