Incidental Mutation 'R6269:Psph'
Institutional Source Beutler Lab
Gene Symbol Psph
Ensembl Gene ENSMUSG00000029446
Gene Namephosphoserine phosphatase
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R6269 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location129765558-129787449 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129766465 bp
Amino Acid Change Isoleucine to Asparagine at position 175 (I175N)
Ref Sequence ENSEMBL: ENSMUSP00000031399 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031399] [ENSMUST00000118268] [ENSMUST00000136507] [ENSMUST00000201394]
Predicted Effect probably damaging
Transcript: ENSMUST00000031399
AA Change: I175N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031399
Gene: ENSMUSG00000029446
AA Change: I175N

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
SMART Domains Protein: ENSMUSP00000113671
Gene: ENSMUSG00000029446

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
SMART Domains Protein: ENSMUSP00000116292
Gene: ENSMUSG00000029446

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
SMART Domains Protein: ENSMUSP00000144667
Gene: ENSMUSG00000029446

Pfam:Hydrolase 14 113 4.5e-6 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T A 6: 86,964,051 I609N unknown Het
Ano10 A T 9: 122,261,242 I277N probably damaging Het
Ap2b1 A G 11: 83,346,673 D483G probably damaging Het
As3mt T A 19: 46,719,952 F226Y probably damaging Het
Atp10a G A 7: 58,803,739 R855H possibly damaging Het
Bin3 T A 14: 70,137,162 H213Q probably benign Het
Bora T C 14: 99,073,667 C512R probably damaging Het
Camk2b T A 11: 5,978,497 D414V probably damaging Het
Ccdc27 A T 4: 154,037,722 L233Q unknown Het
Ccdc73 T C 2: 104,907,633 S25P probably damaging Het
Cenpf G A 1: 189,659,920 H572Y probably benign Het
Chil4 A G 3: 106,204,171 V209A probably damaging Het
Clstn1 T C 4: 149,644,067 V650A probably benign Het
Cox6a2 T A 7: 128,206,265 S11C probably benign Het
Csf1 T C 3: 107,749,001 E238G probably benign Het
Cyp2c23 T A 19: 44,029,187 M1L unknown Het
Cyp4a10 T A 4: 115,524,312 M191K probably damaging Het
Cyp4a14 A G 4: 115,491,131 V383A possibly damaging Het
D130052B06Rik T G 11: 33,623,916 V171G possibly damaging Het
Dlgap2 A G 8: 14,822,369 T617A probably benign Het
Dyrk4 T A 6: 126,886,727 I351F probably damaging Het
Epg5 T C 18: 77,948,370 V94A probably benign Het
Fam111a A G 19: 12,588,443 T519A probably benign Het
Fam208b C T 13: 3,581,891 R870H possibly damaging Het
Gdpd4 A G 7: 97,974,462 S314G probably damaging Het
Gm9758 T A 5: 14,912,260 K111N possibly damaging Het
Gpr137b A T 13: 13,363,511 V285E probably damaging Het
Hyls1 G A 9: 35,561,184 S312F probably benign Het
Itgal T A 7: 127,330,217 L1102Q probably null Het
Kctd19 T A 8: 105,395,360 Y185F possibly damaging Het
Kif5b A G 18: 6,223,558 L317P possibly damaging Het
Klhl42 C A 6: 147,092,307 A259E probably damaging Het
Lrrc2 A G 9: 110,980,949 D351G probably damaging Het
Med12l A G 3: 59,227,822 E797G probably damaging Het
Mink1 A G 11: 70,598,987 E63G probably damaging Het
Nek9 T C 12: 85,332,329 probably null Het
Olfr1120 A T 2: 87,846,874 H201L possibly damaging Het
Otx1 C A 11: 21,997,037 A91S probably damaging Het
Parp6 G A 9: 59,650,012 V627I probably benign Het
Pclo C T 5: 14,522,094 Q498* probably null Het
Pdlim5 T C 3: 142,312,325 T170A possibly damaging Het
Pgap1 A T 1: 54,548,008 Y136* probably null Het
Pgghg T A 7: 140,946,184 N563K probably damaging Het
Plxnb2 A G 15: 89,160,713 M1143T probably benign Het
Pnpla1 G A 17: 28,881,368 G403E probably benign Het
Prc1 G A 7: 80,309,427 R381Q probably damaging Het
Rbbp8nl T A 2: 180,281,512 K131* probably null Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,579,906 probably benign Homo
Sde2 G A 1: 180,855,806 V42I probably benign Het
Slc25a3 G A 10: 91,117,101 R314* probably null Het
Spag9 A G 11: 94,044,507 N48S probably benign Het
Srp54b T C 12: 55,255,972 M351T possibly damaging Het
Tcaf2 A G 6: 42,627,408 L679P probably damaging Het
Tnrc6b T A 15: 80,880,743 N815K probably benign Het
Usp17la A T 7: 104,860,350 Q54L possibly damaging Het
Vmn2r92 T A 17: 18,166,774 I125K probably benign Het
Xrra1 T C 7: 99,917,472 Y732H probably damaging Het
Zfp131 A G 13: 119,766,405 S603P possibly damaging Het
Zfp28 G T 7: 6,393,613 S349I probably benign Het
Other mutations in Psph
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0121:Psph UTSW 5 129791570 unclassified probably benign
R0539:Psph UTSW 5 129766577 unclassified probably benign
R0650:Psph UTSW 5 129791570 unclassified probably benign
R1236:Psph UTSW 5 129771476 missense probably damaging 1.00
R1474:Psph UTSW 5 129771550 missense probably damaging 1.00
R1844:Psph UTSW 5 129766468 missense probably damaging 1.00
R2130:Psph UTSW 5 129787539 unclassified probably null
R3857:Psph UTSW 5 129771476 missense probably damaging 1.00
R4300:Psph UTSW 5 129787465 unclassified probably null
R4368:Psph UTSW 5 129771590 missense probably benign 0.00
R4738:Psph UTSW 5 129769386 critical splice acceptor site probably null
R5306:Psph UTSW 5 129769367 missense probably damaging 1.00
R5859:Psph UTSW 5 129790621 unclassified probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-03-15