Incidental Mutation 'R1617:Psat1'
ID 174397
Institutional Source Beutler Lab
Gene Symbol Psat1
Ensembl Gene ENSMUSG00000024640
Gene Name phosphoserine aminotransferase 1
Synonyms PSA, D8Ertd814e, EPIP
MMRRC Submission 039654-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1617 (G1)
Quality Score 82
Status Not validated
Chromosome 19
Chromosomal Location 15882487-15902423 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 15901666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025542] [ENSMUST00000162053] [ENSMUST00000162416]
AlphaFold Q99K85
Predicted Effect probably benign
Transcript: ENSMUST00000025542
SMART Domains Protein: ENSMUSP00000025542
Gene: ENSMUSG00000024640

DomainStartEndE-ValueType
Pfam:Aminotran_5 7 357 1.3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160170
Predicted Effect probably null
Transcript: ENSMUST00000162053
SMART Domains Protein: ENSMUSP00000125340
Gene: ENSMUSG00000024640

DomainStartEndE-ValueType
Pfam:Aminotran_5 10 354 1.1e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162233
Predicted Effect probably benign
Transcript: ENSMUST00000162416
SMART Domains Protein: ENSMUSP00000125593
Gene: ENSMUSG00000024640

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 157 6.5e-32 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency 98% (83/85)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,473 (GRCm39) I91K probably damaging Het
AAdacl4fm3 T G 4: 144,441,961 (GRCm39) T97P probably damaging Het
Adamts16 T A 13: 70,946,154 (GRCm39) M254L probably benign Het
Adgre5 T C 8: 84,456,806 (GRCm39) I192V possibly damaging Het
Akr1c21 G A 13: 4,626,351 (GRCm39) probably null Het
Amz2 A G 11: 109,324,850 (GRCm39) T245A probably benign Het
Aqp7 A C 4: 41,036,109 (GRCm39) M43R probably null Het
Arid3c G A 4: 41,725,103 (GRCm39) P315S probably damaging Het
Birc2 A T 9: 7,826,952 (GRCm39) Y345N possibly damaging Het
Blnk T C 19: 40,950,807 (GRCm39) T115A probably benign Het
Col5a1 T C 2: 27,842,393 (GRCm39) S423P unknown Het
Corin A T 5: 72,661,295 (GRCm39) F66Y possibly damaging Het
Cpd A T 11: 76,737,495 (GRCm39) W100R probably damaging Het
Cpsf1 A T 15: 76,486,570 (GRCm39) Y296* probably null Het
Cyp2d34 T C 15: 82,505,046 (GRCm39) T5A probably benign Het
Dhrs7c G T 11: 67,705,903 (GRCm39) V219L possibly damaging Het
Dnah3 T C 7: 119,689,169 (GRCm39) M82V probably benign Het
Dnah9 A G 11: 65,786,747 (GRCm39) S3629P probably damaging Het
Fbrs T C 7: 127,086,883 (GRCm39) L33P probably damaging Het
Fhip1b A G 7: 105,034,269 (GRCm39) L454P probably damaging Het
Galnt11 T A 5: 25,463,891 (GRCm39) S388T probably damaging Het
Glmp A G 3: 88,235,426 (GRCm39) probably benign Het
Gm9894 A G 13: 67,920,845 (GRCm39) noncoding transcript Het
Grik3 A G 4: 125,584,985 (GRCm39) M618V probably benign Het
Hmcn1 T C 1: 150,620,778 (GRCm39) D1144G probably damaging Het
Hnrnpa2b1 T C 6: 51,443,378 (GRCm39) K161R possibly damaging Het
Kmt2c T C 5: 25,580,925 (GRCm39) I523V probably benign Het
Lmln C T 16: 32,937,500 (GRCm39) P622S probably damaging Het
Lmtk2 A G 5: 144,110,680 (GRCm39) T467A probably damaging Het
Map1s T A 8: 71,366,095 (GRCm39) N333K probably damaging Het
Mgat4d C A 8: 84,092,340 (GRCm39) A242D probably damaging Het
Muc5b T A 7: 141,417,261 (GRCm39) Y3402* probably null Het
Myo3b G T 2: 70,111,562 (GRCm39) A922S probably benign Het
Nphs1 T C 7: 30,181,956 (GRCm39) V1183A probably benign Het
Nup160 T A 2: 90,509,843 (GRCm39) C31S probably benign Het
Or4c58 T C 2: 89,674,598 (GRCm39) T240A probably benign Het
Or8k25 A T 2: 86,244,035 (GRCm39) Y120* probably null Het
Pcdhb5 T G 18: 37,454,455 (GRCm39) Y278* probably null Het
Pkhd1 T A 1: 20,268,274 (GRCm39) E3368V possibly damaging Het
Pla2g6 A G 15: 79,173,341 (GRCm39) M676T probably benign Het
Plcb1 A T 2: 135,179,361 (GRCm39) N590Y probably damaging Het
Prr12 G A 7: 44,699,018 (GRCm39) probably benign Het
Ptpn9 T G 9: 56,934,692 (GRCm39) I152S possibly damaging Het
Ric8b T A 10: 84,783,475 (GRCm39) F111Y probably damaging Het
Slc44a3 G A 3: 121,254,914 (GRCm39) A568V probably benign Het
Smarcd3 T G 5: 24,800,192 (GRCm39) R213S probably damaging Het
Snx13 T C 12: 35,136,895 (GRCm39) Y119H probably damaging Het
Socs2 C A 10: 95,248,943 (GRCm39) E57* probably null Het
Spred1 C T 2: 117,005,828 (GRCm39) P197S probably benign Het
Srek1 G T 13: 103,880,112 (GRCm39) P482Q unknown Het
Tapbp A G 17: 34,139,405 (GRCm39) T134A probably benign Het
Tarbp1 T C 8: 127,171,007 (GRCm39) I998V possibly damaging Het
Tbcel G T 9: 42,372,589 (GRCm39) probably benign Het
Tec A G 5: 72,939,448 (GRCm39) F189S probably damaging Het
Tmprss11g A T 5: 86,647,422 (GRCm39) Y39N probably damaging Het
Tmtc1 A G 6: 148,256,902 (GRCm39) probably benign Het
Trpa1 A G 1: 14,943,899 (GRCm39) I1070T probably damaging Het
Trpm2 T A 10: 77,771,709 (GRCm39) probably null Het
Ttc21b G T 2: 66,056,379 (GRCm39) T669K probably benign Het
Ttll4 G A 1: 74,718,560 (GRCm39) R137H probably benign Het
Ubqln3 G T 7: 103,792,067 (GRCm39) L8I possibly damaging Het
Ung C A 5: 114,269,415 (GRCm39) N42K probably benign Het
Upp1 T C 11: 9,084,865 (GRCm39) S195P probably damaging Het
Urb1 T C 16: 90,557,340 (GRCm39) E1762G possibly damaging Het
Utp11 T C 4: 124,579,904 (GRCm39) K35E probably damaging Het
Vav3 A T 3: 109,418,294 (GRCm39) K305I probably damaging Het
Vmn1r197 A G 13: 22,512,498 (GRCm39) I140V possibly damaging Het
Vmn2r-ps158 A G 7: 42,673,503 (GRCm39) E187G probably benign Het
Zfc3h1 A G 10: 115,226,827 (GRCm39) T295A probably benign Het
Zfp268 A T 4: 145,350,877 (GRCm39) probably benign Het
Zfp46 T C 4: 136,017,823 (GRCm39) L219P probably damaging Het
Zfp493 G A 13: 67,931,999 (GRCm39) V33M probably damaging Het
Zfp92 T C X: 72,463,466 (GRCm39) probably benign 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
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
R7730:Psat1 UTSW 19 15,895,720 (GRCm39) missense probably damaging 1.00
R9116:Psat1 UTSW 19 15,898,332 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2014-04-24