Incidental Mutation 'R6899:Psat1'
ID 541046
Institutional Source Beutler Lab
Gene Symbol Psat1
Ensembl Gene ENSMUSG00000024640
Gene Name phosphoserine aminotransferase 1
Synonyms PSA, D8Ertd814e, EPIP
MMRRC Submission 044993-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6899 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 15882487-15902423 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 15895569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025542] [ENSMUST00000162053] [ENSMUST00000162416]
AlphaFold Q99K85
Predicted Effect probably null
Transcript: ENSMUST00000025542
SMART Domains Protein: ENSMUSP00000025542
Gene: ENSMUSG00000024640

DomainStartEndE-ValueType
Pfam:Aminotran_5 7 357 1.3e-73 PFAM
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 probably null
Transcript: ENSMUST00000162416
SMART Domains Protein: ENSMUSP00000125593
Gene: ENSMUSG00000024640

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 157 6.5e-32 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,264 (GRCm39) Y1140C probably damaging Het
Actl9 G A 17: 33,652,533 (GRCm39) G198S probably damaging Het
Adcy2 A T 13: 69,130,500 (GRCm39) M129K probably damaging Het
Apmap T A 2: 150,436,228 (GRCm39) I107F probably benign Het
Arrdc3 T C 13: 81,037,330 (GRCm39) I162T probably damaging Het
Asprv1 T C 6: 86,605,742 (GRCm39) L196P probably damaging Het
Atpsckmt A G 15: 31,617,257 (GRCm39) S163G probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
Borcs5 T A 6: 134,687,173 (GRCm39) M177K probably benign Het
C8b A T 4: 104,644,071 (GRCm39) K246M probably benign Het
Cdo1 A G 18: 46,856,407 (GRCm39) C76R probably damaging Het
Ces2b T A 8: 105,563,398 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,902 (GRCm39) S194N probably benign Het
Dap3 A G 3: 88,840,907 (GRCm39) F77L probably benign Het
Dars1 A G 1: 128,341,483 (GRCm39) V44A possibly damaging Het
Dhtkd1 T A 2: 5,922,776 (GRCm39) D461V possibly damaging Het
Ero1a A C 14: 45,530,396 (GRCm39) H345Q probably benign Het
Fzd8 T A 18: 9,214,729 (GRCm39) S604T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gramd1c T A 16: 43,860,505 (GRCm39) Y64F probably benign Het
Heatr5b T A 17: 79,110,938 (GRCm39) Y970F probably benign Het
Hoxc10 A G 15: 102,875,942 (GRCm39) E217G possibly damaging Het
Hsd17b14 A T 7: 45,212,352 (GRCm39) H128L possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifna9 A G 4: 88,510,300 (GRCm39) F108S probably damaging Het
Ikbke A G 1: 131,203,499 (GRCm39) V58A probably damaging Het
Inpp5e G A 2: 26,290,060 (GRCm39) R462C possibly damaging Het
Junb A G 8: 85,704,353 (GRCm39) F236L probably benign Het
Klhl36 T C 8: 120,596,881 (GRCm39) V194A probably benign Het
Lsg1 A T 16: 30,400,906 (GRCm39) D134E probably benign Het
Megf8 G T 7: 25,060,138 (GRCm39) C2343F probably damaging Het
Mtres1 T C 10: 43,408,780 (GRCm39) E121G possibly damaging Het
Myom3 G A 4: 135,530,603 (GRCm39) G1172R probably damaging Het
Nasp A T 4: 116,461,530 (GRCm39) V548E probably damaging Het
Nubpl T A 12: 52,357,536 (GRCm39) S317T probably benign Het
Nup210l A G 3: 90,075,204 (GRCm39) D838G possibly damaging Het
Oxsr1 C T 9: 119,076,188 (GRCm39) A373T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Slain1 C T 14: 103,888,215 (GRCm39) P45L possibly damaging Het
Slc16a8 A G 15: 79,137,949 (GRCm39) V20A possibly damaging Het
Slc22a13 A T 9: 119,025,473 (GRCm39) M145K probably damaging Het
Slc22a4 G A 11: 53,879,739 (GRCm39) T440I probably damaging Het
Slc39a12 C T 2: 14,394,352 (GRCm39) P74L probably damaging Het
Sod3 A G 5: 52,526,050 (GRCm39) T250A unknown Het
Syne2 A G 12: 76,142,503 (GRCm39) probably null Het
Tctn1 A G 5: 122,387,019 (GRCm39) Y299H probably damaging Het
Tfcp2l1 A G 1: 118,603,305 (GRCm39) M448V probably benign Het
Tfpi C T 2: 84,275,153 (GRCm39) G152S probably damaging Het
Thap4 A G 1: 93,678,691 (GRCm39) S32P probably damaging Het
Tmem132c T A 5: 127,628,744 (GRCm39) W549R probably damaging Het
Vmn2r29 T C 7: 7,244,641 (GRCm39) E411G probably damaging Het
Washc4 C A 10: 83,411,919 (GRCm39) D683E probably benign Het
Wdr3 A T 3: 100,057,217 (GRCm39) V462D possibly damaging Het
Wdr5b T C 16: 35,862,150 (GRCm39) S90P probably damaging Het
Zfp407 A G 18: 84,579,559 (GRCm39) L518P possibly damaging Het
Zfp53 A G 17: 21,728,707 (GRCm39) I247V 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
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 PCR Primer
(F):5'- ACTTAGACAGGGGCAGCATC -3'
(R):5'- AGGTGATCTTTGTACAAGGAGG -3'

Sequencing Primer
(F):5'- AGCATCCCTGGAGCCCTTG -3'
(R):5'- TACAAGGAGGTGGGTCTGGC -3'
Posted On 2018-11-28