Incidental Mutation 'R4300:Psph'
| ID |
470037 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Psph
|
| Ensembl Gene |
ENSMUSG00000029446 |
| Gene Name |
phosphoserine phosphatase |
| Synonyms |
PSPase |
| MMRRC Submission |
041657-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4300 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
129842622-129864318 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 129864529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031399]
[ENSMUST00000136507]
|
| AlphaFold |
Q99LS3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000031399
|
| SMART Domains |
Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hydrolase
|
14 |
191 |
5.7e-19 |
PFAM |
|
Pfam:HAD
|
17 |
187 |
4e-13 |
PFAM |
|
Pfam:UMPH-1
|
62 |
192 |
5.4e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000031402
|
| SMART Domains |
Protein: ENSMUSP00000031402
Gene: ENSMUSG00000029447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
21 |
N/A |
INTRINSIC |
|
Pfam:Cpn60_TCP1
|
30 |
527 |
9.9e-153 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083370
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000136507
|
| SMART Domains |
Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1NNL|B
|
1 |
59 |
1e-32 |
PDB |
|
SCOP:d1j97a_
|
15 |
58 |
2e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178244
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201414
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202374
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202854
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503B20Rik |
T |
A |
3: 146,356,675 (GRCm39) |
R78* |
probably null |
Het |
| A2m |
G |
A |
6: 121,650,434 (GRCm39) |
V1181I |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,525,251 (GRCm39) |
S1639G |
probably damaging |
Het |
| Ccs |
T |
C |
19: 4,884,285 (GRCm39) |
T56A |
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,449,845 (GRCm39) |
I547V |
possibly damaging |
Het |
| Ckmt2 |
C |
A |
13: 92,011,457 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
A |
G |
11: 118,074,720 (GRCm39) |
F180L |
probably damaging |
Het |
| Dip2c |
A |
G |
13: 9,660,747 (GRCm39) |
I840M |
probably damaging |
Het |
| Gm37150 |
G |
A |
9: 72,292,758 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
A |
G |
9: 66,396,688 (GRCm39) |
D4255G |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnn4 |
G |
T |
7: 24,077,029 (GRCm39) |
V193L |
probably benign |
Het |
| Lrrc8d |
G |
A |
5: 105,961,606 (GRCm39) |
R672Q |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 25,009,082 (GRCm39) |
N463D |
probably benign |
Het |
| Mtfr1 |
T |
A |
3: 19,269,621 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
C |
9: 39,934,435 (GRCm39) |
I249L |
probably benign |
Het |
| Or5h24 |
T |
C |
16: 58,918,641 (GRCm39) |
Y238C |
unknown |
Het |
| Pcnt |
G |
C |
10: 76,203,225 (GRCm39) |
R2626G |
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,226,671 (GRCm39) |
I1072T |
probably damaging |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Rfx4 |
T |
C |
10: 84,740,966 (GRCm39) |
Y601H |
probably damaging |
Het |
| Rmc1 |
A |
G |
18: 12,321,919 (GRCm39) |
N513D |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,127,123 (GRCm39) |
V1249G |
probably damaging |
Het |
| Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Spata31 |
A |
T |
13: 65,067,575 (GRCm39) |
H79L |
probably benign |
Het |
| Srbd1 |
C |
A |
17: 86,292,632 (GRCm39) |
R979L |
probably damaging |
Het |
| Stox2 |
A |
T |
8: 47,647,027 (GRCm39) |
Y208* |
probably null |
Het |
| Sun1 |
A |
T |
5: 139,213,349 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,224 (GRCm39) |
D132G |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tubgcp3 |
G |
T |
8: 12,707,600 (GRCm39) |
P130T |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,703,673 (GRCm39) |
E277G |
probably damaging |
Het |
|
| Other mutations in Psph |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0121:Psph
|
UTSW |
5 |
129,868,633 (GRCm39) |
unclassified |
probably benign |
|
|
R0539:Psph
|
UTSW |
5 |
129,843,641 (GRCm39) |
unclassified |
probably benign |
|
|
R0650:Psph
|
UTSW |
5 |
129,868,633 (GRCm39) |
unclassified |
probably benign |
|
|
R1236:Psph
|
UTSW |
5 |
129,848,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1474:Psph
|
UTSW |
5 |
129,848,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1844:Psph
|
UTSW |
5 |
129,843,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2130:Psph
|
UTSW |
5 |
129,864,603 (GRCm39) |
splice site |
probably null |
|
|
R3857:Psph
|
UTSW |
5 |
129,848,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Psph
|
UTSW |
5 |
129,848,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4738:Psph
|
UTSW |
5 |
129,846,450 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5306:Psph
|
UTSW |
5 |
129,846,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Psph
|
UTSW |
5 |
129,867,685 (GRCm39) |
unclassified |
probably benign |
|
|
R6269:Psph
|
UTSW |
5 |
129,843,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7552:Psph
|
UTSW |
5 |
129,847,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7593:Psph
|
UTSW |
5 |
129,864,337 (GRCm39) |
unclassified |
probably benign |
|
|
R9584:Psph
|
UTSW |
5 |
129,847,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2017-03-06 |
Incidental Mutation