Incidental Mutation 'R2247:Psapl1'
| ID |
240892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psapl1
|
| Ensembl Gene |
ENSMUSG00000043430 |
| Gene Name |
prosaposin-like 1 |
| Synonyms |
2310020A21Rik |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
36361365-36363912 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36362410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 334
(E334G)
|
| 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: E334G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000100594
Gene: ENSMUSG00000043430
AA Change: E334G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Raly |
A |
G |
2: 154,705,953 (GRCm39) |
H277R |
possibly damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
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 |
|
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 |
|
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'- TCTCTGGAGATGGAGATGCC -3'
(R):5'- AGATTCTGGGAAGACATGCC -3'
Sequencing Primer
(F):5'- CCGAGGACGAATGAGTTGC -3'
(R):5'- TTTGCACCCTTGGCAGAAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation