Incidental Mutation 'R7730:Psat1'
ID 595798
Institutional Source Beutler Lab
Gene Symbol Psat1
Ensembl Gene ENSMUSG00000024640
Gene Name phosphoserine aminotransferase 1
Synonyms PSA, D8Ertd814e, EPIP
MMRRC Submission 045786-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7730 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 15882487-15902423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15895720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 83 (F83L)
Ref Sequence ENSEMBL: ENSMUSP00000025542 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025542] [ENSMUST00000162053] [ENSMUST00000162416]
AlphaFold Q99K85
Predicted Effect probably damaging
Transcript: ENSMUST00000025542
AA Change: F83L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025542
Gene: ENSMUSG00000024640
AA Change: F83L

DomainStartEndE-ValueType
Pfam:Aminotran_5 7 357 1.3e-73 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162053
AA Change: F80L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125340
Gene: ENSMUSG00000024640
AA Change: F80L

DomainStartEndE-ValueType
Pfam:Aminotran_5 10 354 1.1e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162416
AA Change: F42L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125593
Gene: ENSMUSG00000024640
AA Change: F42L

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 157 6.5e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the class-V pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is a phosphoserine aminotransferase and decreased expression may be associated with schizophrenia. Mutations in this gene are also associated with phosphoserine aminotransferase deficiency. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 1, 3, and 8. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit craniofacial defects, exencephaly and growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T A 11: 48,838,703 (GRCm39) H628L probably benign Het
Adam6a T A 12: 113,507,660 (GRCm39) V11E possibly damaging Het
Amotl1 T G 9: 14,467,059 (GRCm39) K660T possibly damaging Het
Ap4m1 T C 5: 138,171,077 (GRCm39) I59T probably damaging Het
Brd3 T C 2: 27,346,967 (GRCm39) Y389C probably damaging Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Card11 C A 5: 140,871,751 (GRCm39) R650L probably damaging Het
Cercam G A 2: 29,762,574 (GRCm39) probably null Het
Cnst T C 1: 179,452,650 (GRCm39) C673R probably damaging Het
Dld G T 12: 31,390,864 (GRCm39) T194K probably benign Het
Dnah12 T A 14: 26,507,890 (GRCm39) W1714R probably damaging Het
Dsg1a T G 18: 20,464,768 (GRCm39) V421G possibly damaging Het
Fer1l4 G T 2: 155,890,854 (GRCm39) P188Q probably benign Het
Gpr158 T C 2: 21,831,158 (GRCm39) S753P probably damaging Het
Hdc A T 2: 126,436,002 (GRCm39) M623K possibly damaging Het
Herc1 CAACCCTGGTAAC CAAC 9: 66,400,472 (GRCm39) probably benign Het
Igf2r A T 17: 12,954,878 (GRCm39) F203I probably damaging Het
Jag2 A T 12: 112,885,661 (GRCm39) I145N probably damaging Het
Kcnt2 T A 1: 140,446,686 (GRCm39) F694I probably benign Het
Lpl A T 8: 69,340,100 (GRCm39) R32* probably null Het
Mcpt4 T A 14: 56,297,428 (GRCm39) I243L probably benign Het
Mtf1 C A 4: 124,732,412 (GRCm39) A490E possibly damaging Het
Mycbp2 A T 14: 103,360,791 (GRCm39) M4497K probably damaging Het
Myog T C 1: 134,218,914 (GRCm39) probably null Het
Nav2 T C 7: 49,222,145 (GRCm39) S1757P probably damaging Het
Or7g18 T G 9: 18,786,709 (GRCm39) F26V probably benign Het
Osmr T A 15: 6,853,963 (GRCm39) I583F probably damaging Het
Phf19 T A 2: 34,785,816 (GRCm39) E551V probably damaging Het
Plxnb2 A G 15: 89,046,533 (GRCm39) M870T probably benign Het
Reep1 T A 6: 71,757,725 (GRCm39) V108D possibly damaging Het
Rorc A G 3: 94,300,421 (GRCm39) T455A probably benign Het
Serinc5 T G 13: 92,821,698 (GRCm39) I169S probably damaging Het
Serpinb6c T C 13: 34,083,292 (GRCm39) M41V probably damaging Het
Sgsm3 A T 15: 80,892,927 (GRCm39) N335Y probably damaging Het
Slamf7 C T 1: 171,468,589 (GRCm39) R101H possibly damaging Het
Slc17a4 A T 13: 24,084,503 (GRCm39) L427* probably null Het
Slc35a5 T C 16: 44,964,246 (GRCm39) Q329R probably damaging Het
Slc45a1 C T 4: 150,715,397 (GRCm39) C656Y probably damaging Het
Srsf6 T C 2: 162,773,643 (GRCm39) I18T probably damaging Het
Syn3 T G 10: 86,284,773 (GRCm39) H109P probably benign Het
Synj2 T C 17: 6,066,562 (GRCm39) V580A probably benign Het
Tbc1d9b T C 11: 50,026,742 (GRCm39) V70A possibly damaging Het
Tc2n A G 12: 101,617,406 (GRCm39) Y402H probably damaging Het
Tmbim4 T C 10: 120,059,767 (GRCm39) C164R possibly damaging Het
Tnfrsf11b T A 15: 54,117,470 (GRCm39) R262* probably null Het
Tnip1 T C 11: 54,828,805 (GRCm39) K121E probably benign Het
Tut1 T C 19: 8,941,740 (GRCm39) probably null Het
Uhrf2 T A 19: 30,052,501 (GRCm39) C332S probably damaging Het
Vmn2r101 A G 17: 19,831,950 (GRCm39) I649V possibly damaging Het
Vwa8 A G 14: 79,232,589 (GRCm39) T644A probably benign Het
Zfhx2 T C 14: 55,304,357 (GRCm39) H1209R possibly damaging Het
Zfp384 A G 6: 125,008,635 (GRCm39) I306V probably benign Het
Zfp964 A G 8: 70,116,360 (GRCm39) E320G possibly damaging Het
Zmym2 A T 14: 57,193,638 (GRCm39) Y1151F possibly damaging Het
Other mutations in Psat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03017:Psat1 APN 19 15,894,499 (GRCm39) missense possibly damaging 0.52
IGL03102:Psat1 APN 19 15,883,487 (GRCm39) missense probably damaging 1.00
R1617:Psat1 UTSW 19 15,901,666 (GRCm39) critical splice donor site probably null
R1758:Psat1 UTSW 19 15,892,243 (GRCm39) missense probably damaging 1.00
R3897:Psat1 UTSW 19 15,896,817 (GRCm39) critical splice donor site probably null
R5138:Psat1 UTSW 19 15,892,312 (GRCm39) missense possibly damaging 0.77
R6899:Psat1 UTSW 19 15,895,569 (GRCm39) critical splice donor site probably null
R6941:Psat1 UTSW 19 15,898,307 (GRCm39) missense probably damaging 1.00
R6945:Psat1 UTSW 19 15,894,545 (GRCm39) missense probably benign 0.30
R7268:Psat1 UTSW 19 15,894,508 (GRCm39) missense probably damaging 0.99
R9116:Psat1 UTSW 19 15,898,332 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CGTGCATCTTCAGTTCCCAGAAC -3'
(R):5'- GCAAAGTGATAGTGAGACTTTACC -3'

Sequencing Primer
(F):5'- GTTCCCAGAACTTACTTGTGTAAC -3'
(R):5'- AGATGAGTCAGTGCTCTTAACCGC -3'
Posted On 2019-11-12