Incidental Mutation 'R3161:Psap'
| ID |
258168 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psap
|
| Ensembl Gene |
ENSMUSG00000004207 |
| Gene Name |
prosaposin |
| Synonyms |
SGP-1 |
| MMRRC Submission |
040612-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3161 (G1)
|
| Quality Score |
200 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
60113449-60138376 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60113575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 4
(L4P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101105
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004316]
[ENSMUST00000105465]
[ENSMUST00000177779]
[ENSMUST00000179238]
|
| AlphaFold |
Q61207 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004316
AA Change: L4P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
272 |
1.2e-16 |
SMART |
|
SapB
|
314 |
389 |
2.07e-20 |
SMART |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
SapB
|
439 |
514 |
3.84e-24 |
SMART |
|
SAPA
|
523 |
556 |
3.19e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105465
AA Change: L4P
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
270 |
2.76e-16 |
SMART |
|
SapB
|
312 |
387 |
2.07e-20 |
SMART |
|
low complexity region
|
410 |
428 |
N/A |
INTRINSIC |
|
SapB
|
437 |
512 |
3.84e-24 |
SMART |
|
SAPA
|
521 |
554 |
3.19e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177779
AA Change: L4P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
273 |
2.37e-15 |
SMART |
|
SapB
|
315 |
390 |
2.07e-20 |
SMART |
|
low complexity region
|
413 |
431 |
N/A |
INTRINSIC |
|
SapB
|
440 |
515 |
3.84e-24 |
SMART |
|
SAPA
|
524 |
557 |
3.19e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179238
AA Change: L4P
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
AA Change: L4P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
273 |
8.5e-17 |
SMART |
|
SapB
|
315 |
390 |
2.07e-20 |
SMART |
|
low complexity region
|
413 |
431 |
N/A |
INTRINSIC |
|
SapB
|
440 |
515 |
3.84e-24 |
SMART |
|
SAPA
|
524 |
557 |
3.19e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.6915 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: This gene encodes a multifunctional glycoprotein that plays a role in the intracellular metabolism of various sphingolipids or secreted into the plasma, milk or cerebrospinal fluid. The encoded protein undergoes proteolytic processing to generate four different polypeptides known as saposin A, B, C or D, that are required for the hydrolysis of certain sphingolipids by lysosomal hydrolases. Alternately, the encoded protein is secreted into body fluids where it exhibits neurotrophic and myelinotrophic activities. A complete lack of the encoded protein is fatal to mice either at the neonatal stage or within the first month due to severe leukodystrophy and sphingolipid accumulation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature saposins. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for a targeted null mutation die either neonatally or around 7 weeks. At 30 days, mutants show hypomyelination, PAS-positive material in the nervous system, and accumulation of ceramides in brain, liver, and kidney. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
C |
5: 64,053,833 (GRCm39) |
|
probably benign |
Het |
| 1700066M21Rik |
T |
A |
1: 57,422,234 (GRCm39) |
N203K |
probably benign |
Het |
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Adgrl2 |
G |
A |
3: 148,523,187 (GRCm39) |
L1354F |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,343,597 (GRCm39) |
V427L |
possibly damaging |
Het |
| Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,965,302 (GRCm39) |
D1182E |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
| Chct1 |
A |
G |
11: 85,064,110 (GRCm39) |
S84G |
probably damaging |
Het |
| Ciz1 |
A |
G |
2: 32,260,075 (GRCm39) |
D207G |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crabp2 |
A |
T |
3: 87,859,484 (GRCm39) |
K45* |
probably null |
Het |
| Daam1 |
C |
A |
12: 71,993,872 (GRCm39) |
T425K |
unknown |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dlg4 |
G |
C |
11: 69,908,051 (GRCm39) |
R4T |
probably damaging |
Het |
| Fbf1 |
A |
G |
11: 116,039,046 (GRCm39) |
I743T |
probably damaging |
Het |
| Fen1 |
A |
G |
19: 10,177,655 (GRCm39) |
L263P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,050,456 (GRCm39) |
N27S |
probably damaging |
Het |
| Garnl3 |
A |
T |
2: 32,924,723 (GRCm39) |
N246K |
probably damaging |
Het |
| Gm7337 |
A |
C |
5: 87,999,416 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr152 |
A |
G |
19: 4,192,713 (GRCm39) |
T85A |
probably benign |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Ighv1-81 |
C |
G |
12: 115,883,949 (GRCm39) |
E101Q |
probably benign |
Het |
| Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
| Myo9a |
C |
T |
9: 59,739,598 (GRCm39) |
|
probably benign |
Het |
| Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or5an1c |
T |
C |
19: 12,218,860 (GRCm39) |
H55R |
probably benign |
Het |
| Or6d13 |
C |
T |
6: 116,517,807 (GRCm39) |
A131V |
probably damaging |
Het |
| Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
| Phyh |
T |
A |
2: 4,942,482 (GRCm39) |
|
probably benign |
Het |
| Pkp4 |
G |
T |
2: 59,138,449 (GRCm39) |
R233M |
probably damaging |
Het |
| Plcb1 |
A |
T |
2: 135,177,402 (GRCm39) |
Q578L |
probably benign |
Het |
| Ppil3 |
A |
T |
1: 58,473,573 (GRCm39) |
N92K |
probably benign |
Het |
| Prokr1 |
C |
T |
6: 87,565,413 (GRCm39) |
R144H |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Sult2a4 |
T |
C |
7: 13,723,396 (GRCm39) |
T40A |
probably benign |
Het |
| Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,663,581 (GRCm39) |
|
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,575,998 (GRCm39) |
M532K |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Wipf1 |
C |
T |
2: 73,265,293 (GRCm39) |
E437K |
probably damaging |
Het |
| Wls |
G |
T |
3: 159,603,073 (GRCm39) |
C162F |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,736 (GRCm39) |
S200P |
probably benign |
Het |
|
| Other mutations in Psap |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Psap
|
APN |
10 |
60,128,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01100:Psap
|
APN |
10 |
60,135,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01122:Psap
|
APN |
10 |
60,135,253 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02544:Psap
|
APN |
10 |
60,136,405 (GRCm39) |
splice site |
probably benign |
|
|
twerk
|
UTSW |
10 |
60,136,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0591:Psap
|
UTSW |
10 |
60,136,634 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0624:Psap
|
UTSW |
10 |
60,135,345 (GRCm39) |
splice site |
probably benign |
|
|
R1018:Psap
|
UTSW |
10 |
60,136,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Psap
|
UTSW |
10 |
60,130,826 (GRCm39) |
nonsense |
probably null |
|
|
R3162:Psap
|
UTSW |
10 |
60,113,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3162:Psap
|
UTSW |
10 |
60,113,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3615:Psap
|
UTSW |
10 |
60,130,383 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3616:Psap
|
UTSW |
10 |
60,130,383 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4622:Psap
|
UTSW |
10 |
60,136,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4623:Psap
|
UTSW |
10 |
60,136,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Psap
|
UTSW |
10 |
60,136,324 (GRCm39) |
missense |
probably benign |
|
|
R5131:Psap
|
UTSW |
10 |
60,135,736 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5203:Psap
|
UTSW |
10 |
60,130,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Psap
|
UTSW |
10 |
60,137,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5511:Psap
|
UTSW |
10 |
60,134,959 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5764:Psap
|
UTSW |
10 |
60,129,186 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6207:Psap
|
UTSW |
10 |
60,136,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Psap
|
UTSW |
10 |
60,135,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Psap
|
UTSW |
10 |
60,135,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7525:Psap
|
UTSW |
10 |
60,135,253 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7711:Psap
|
UTSW |
10 |
60,135,634 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8252:Psap
|
UTSW |
10 |
60,113,511 (GRCm39) |
start gained |
probably benign |
|
|
R8894:Psap
|
UTSW |
10 |
60,135,736 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9062:Psap
|
UTSW |
10 |
60,131,738 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9756:Psap
|
UTSW |
10 |
60,130,784 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0019:Psap
|
UTSW |
10 |
60,135,694 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGACCTTGATTTAATCACCAG -3'
(R):5'- ACAGGACAAGACGTCTCTCC -3'
Sequencing Primer
(F):5'- GACCTTGATTTAATCACCAGATATGG -3'
(R):5'- CCCAGTGCAGAGAATCTGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation