Incidental Mutation 'R4368:Psph'
ID |
325847 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psph
|
Ensembl Gene |
ENSMUSG00000029446 |
Gene Name |
phosphoserine phosphatase |
Synonyms |
PSPase |
MMRRC Submission |
041115-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4368 (G1)
|
Quality Score |
198 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
129842622-129864318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 129848654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Threonine
at position 9
(K9T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113671
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031399]
[ENSMUST00000118268]
[ENSMUST00000136507]
[ENSMUST00000201394]
|
AlphaFold |
Q99LS3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031399
AA Change: K9T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000031399 Gene: ENSMUSG00000029446 AA Change: K9T
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 |
probably benign
Transcript: ENSMUST00000118268
AA Change: K9T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000113671 Gene: ENSMUSG00000029446 AA Change: K9T
Domain | Start | End | E-Value | Type |
PDB:1L8O|B
|
1 |
94 |
1e-55 |
PDB |
SCOP:d1j97a_
|
15 |
92 |
2e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136280
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136507
AA Change: K9T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116292 Gene: ENSMUSG00000029446 AA Change: K9T
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: ENSMUST00000201022
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201394
AA Change: K9T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000144667 Gene: ENSMUSG00000029446 AA Change: K9T
Domain | Start | End | E-Value | Type |
Pfam:Hydrolase
|
14 |
113 |
4.5e-6 |
PFAM |
|
Meta Mutation Damage Score |
0.1223 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
98% (46/47) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930449A18Rik |
A |
G |
3: 59,754,199 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl2fm2 |
T |
C |
3: 59,659,387 (GRCm39) |
F280S |
probably damaging |
Het |
Adamts7 |
G |
A |
9: 90,077,904 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
C |
13: 81,641,029 (GRCm39) |
S3335R |
unknown |
Het |
Armc6 |
G |
A |
8: 70,677,943 (GRCm39) |
L129F |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Bltp1 |
C |
T |
3: 37,042,296 (GRCm39) |
Q2761* |
probably null |
Het |
Cdh19 |
G |
A |
1: 110,817,442 (GRCm39) |
Q767* |
probably null |
Het |
Cep120 |
G |
A |
18: 53,818,957 (GRCm39) |
|
probably null |
Het |
Dhx38 |
C |
T |
8: 110,279,763 (GRCm39) |
V976I |
probably damaging |
Het |
Efr3a |
T |
A |
15: 65,738,629 (GRCm39) |
F753I |
possibly damaging |
Het |
Hspb7 |
A |
T |
4: 141,151,329 (GRCm39) |
E157V |
probably damaging |
Het |
Irx6 |
A |
G |
8: 93,405,029 (GRCm39) |
E299G |
probably damaging |
Het |
Jhy |
T |
A |
9: 40,828,440 (GRCm39) |
N489Y |
possibly damaging |
Het |
Klhl22 |
T |
C |
16: 17,607,137 (GRCm39) |
V481A |
possibly damaging |
Het |
Mapk13 |
A |
G |
17: 28,996,539 (GRCm39) |
|
probably null |
Het |
Meis1 |
A |
T |
11: 18,960,656 (GRCm39) |
|
probably benign |
Het |
Nlrp14 |
A |
G |
7: 106,797,012 (GRCm39) |
K301E |
probably benign |
Het |
Nol10 |
T |
C |
12: 17,429,293 (GRCm39) |
Y340H |
probably damaging |
Het |
Or2k2 |
T |
C |
4: 58,785,153 (GRCm39) |
S190G |
probably benign |
Het |
Paqr3 |
T |
C |
5: 97,256,150 (GRCm39) |
S75G |
probably damaging |
Het |
Pdgfa |
T |
C |
5: 138,972,061 (GRCm39) |
T113A |
probably damaging |
Het |
Phactr2 |
A |
G |
10: 13,129,564 (GRCm39) |
S235P |
probably damaging |
Het |
Ptpn21 |
T |
C |
12: 98,644,852 (GRCm39) |
Y1163C |
probably damaging |
Het |
Scaf8 |
T |
C |
17: 3,221,470 (GRCm39) |
L319P |
unknown |
Het |
Slc4a7 |
C |
T |
14: 14,733,775 (GRCm38) |
R62W |
probably damaging |
Het |
Slc6a3 |
C |
A |
13: 73,709,031 (GRCm39) |
C318* |
probably null |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Taf1c |
A |
C |
8: 120,326,055 (GRCm39) |
S602R |
possibly damaging |
Het |
Tiam2 |
A |
G |
17: 3,464,958 (GRCm39) |
D229G |
probably benign |
Het |
Tor1a |
A |
G |
2: 30,857,382 (GRCm39) |
|
probably benign |
Het |
Trim45 |
T |
C |
3: 100,830,502 (GRCm39) |
I92T |
probably damaging |
Het |
Ttll8 |
G |
A |
15: 88,798,384 (GRCm39) |
P784S |
possibly damaging |
Het |
Tubg1 |
G |
T |
11: 101,016,190 (GRCm39) |
|
probably null |
Het |
Vmn1r178 |
A |
T |
7: 23,593,447 (GRCm39) |
N92I |
probably damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,315,676 (GRCm39) |
V130A |
probably benign |
Het |
Wdr46 |
A |
G |
17: 34,160,120 (GRCm39) |
|
probably benign |
Het |
Yme1l1 |
A |
G |
2: 23,050,223 (GRCm39) |
H18R |
possibly damaging |
Het |
Zfp263 |
T |
A |
16: 3,562,770 (GRCm39) |
|
probably benign |
Het |
Zfp534 |
T |
C |
4: 147,760,015 (GRCm39) |
D218G |
probably benign |
Het |
Zscan12 |
T |
C |
13: 21,553,553 (GRCm39) |
V459A |
probably benign |
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 |
R4300:Psph
|
UTSW |
5 |
129,864,529 (GRCm39) |
splice site |
probably null |
|
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 |
PCR Primer
(F):5'- GCCAGAACCTAGGAACTGAGAC -3'
(R):5'- GCATACACCACTGCTTCTGAC -3'
Sequencing Primer
(F):5'- TAACCCAGCCTTTCATCCAGTCAG -3'
(R):5'- ACCACTGCTTCTGACTTAGGTGG -3'
|
Posted On |
2015-07-06 |