Incidental Mutation 'IGL00574:Psapl1'
ID |
13194 |
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: 0.064)
|
Stock # |
IGL00574
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
36361365-36363912 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 36362975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 522
(N522K)
|
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: N522K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100594 Gene: ENSMUSG00000043430 AA Change: N522K
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr3 |
T |
C |
1: 125,339,011 (GRCm39) |
Y109C |
probably damaging |
Het |
Agap3 |
T |
A |
5: 24,703,107 (GRCm39) |
L568Q |
probably damaging |
Het |
Baiap2 |
T |
C |
11: 119,897,234 (GRCm39) |
S530P |
probably damaging |
Het |
Bmpr1a |
T |
C |
14: 34,156,376 (GRCm39) |
I164V |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,947,330 (GRCm39) |
N473S |
probably benign |
Het |
Egr4 |
T |
C |
6: 85,489,487 (GRCm39) |
D191G |
probably damaging |
Het |
Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
Grk4 |
T |
A |
5: 34,852,162 (GRCm39) |
N135K |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,820,787 (GRCm39) |
N1134S |
probably benign |
Het |
Macrod2 |
T |
G |
2: 140,242,797 (GRCm39) |
M21R |
probably damaging |
Het |
Mtx3 |
G |
T |
13: 92,984,384 (GRCm39) |
Q188H |
possibly damaging |
Het |
Otx1 |
T |
C |
11: 21,946,794 (GRCm39) |
|
probably benign |
Het |
Pcdhb8 |
T |
G |
18: 37,489,423 (GRCm39) |
F26C |
probably damaging |
Het |
Pdgfra |
T |
A |
5: 75,341,708 (GRCm39) |
I647K |
probably damaging |
Het |
Rbm10 |
T |
A |
X: 20,516,931 (GRCm39) |
|
probably benign |
Het |
Rbm10 |
G |
A |
X: 20,516,932 (GRCm39) |
|
probably benign |
Het |
Ric1 |
A |
G |
19: 29,572,762 (GRCm39) |
E734G |
probably damaging |
Het |
Sec24c |
T |
C |
14: 20,742,463 (GRCm39) |
V837A |
probably damaging |
Het |
Shoc1 |
T |
A |
4: 59,094,201 (GRCm39) |
R174S |
possibly damaging |
Het |
Sohlh2 |
C |
T |
3: 55,111,747 (GRCm39) |
|
probably benign |
Het |
Tex10 |
G |
A |
4: 48,469,937 (GRCm39) |
Q43* |
probably null |
Het |
Tmem147 |
G |
A |
7: 30,427,858 (GRCm39) |
R66* |
probably null |
Het |
Tmem150c |
G |
T |
5: 100,240,810 (GRCm39) |
H51N |
probably benign |
Het |
Usp47 |
A |
T |
7: 111,662,542 (GRCm39) |
K228M |
probably damaging |
Het |
|
Other mutations in Psapl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |