Incidental Mutation 'IGL01873:Psapl1'
| ID |
178786 |
| 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 # |
IGL01873
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
36361365-36363912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 36362569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 387
(P387Q)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000052224
AA Change: P387Q
PolyPhen 2
Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: P387Q
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Chd9 |
A |
G |
8: 91,660,395 (GRCm39) |
T452A |
probably benign |
Het |
| Coq8a |
T |
A |
1: 180,006,542 (GRCm39) |
Q115L |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,813,378 (GRCm39) |
E2326G |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,869,693 (GRCm39) |
|
probably benign |
Het |
| Dennd5b |
A |
T |
6: 148,946,027 (GRCm39) |
M528K |
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,355 (GRCm39) |
S38G |
probably damaging |
Het |
| Gsg1l |
A |
G |
7: 125,557,615 (GRCm39) |
V171A |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,350 (GRCm39) |
S42T |
probably benign |
Het |
| Itch |
C |
T |
2: 155,010,670 (GRCm39) |
T46I |
possibly damaging |
Het |
| Itsn2 |
T |
G |
12: 4,682,366 (GRCm39) |
|
probably benign |
Het |
| Lime1 |
T |
C |
2: 181,024,667 (GRCm39) |
V107A |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,571,195 (GRCm39) |
S50P |
possibly damaging |
Het |
| Myo5b |
T |
A |
18: 74,713,467 (GRCm39) |
V104E |
probably damaging |
Het |
| Nckap1 |
A |
T |
2: 80,383,729 (GRCm39) |
I145K |
possibly damaging |
Het |
| Ppp4r3a |
A |
T |
12: 101,008,094 (GRCm39) |
I794N |
possibly damaging |
Het |
| Ripk1 |
T |
A |
13: 34,193,707 (GRCm39) |
L23Q |
probably damaging |
Het |
| Srrm4 |
G |
T |
5: 116,729,527 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
A |
11: 116,657,437 (GRCm39) |
T376S |
probably damaging |
Het |
| Tmem74 |
T |
C |
15: 43,730,782 (GRCm39) |
D87G |
probably benign |
Het |
| Trav19 |
A |
G |
14: 54,083,173 (GRCm39) |
R83G |
probably benign |
Het |
| Tubgcp4 |
T |
C |
2: 121,018,665 (GRCm39) |
|
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfat |
T |
C |
15: 68,096,744 (GRCm39) |
N23S |
probably benign |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation