Incidental Mutation 'IGL03102:Psat1'
ID 418792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Psat1
Ensembl Gene ENSMUSG00000024640
Gene Name phosphoserine aminotransferase 1
Synonyms PSA, D8Ertd814e, EPIP
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03102
Quality Score
Status
Chromosome 19
Chromosomal Location 15882487-15902423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15883487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 343 (Y343H)
Ref Sequence ENSEMBL: ENSMUSP00000125340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025542] [ENSMUST00000162053]
AlphaFold Q99K85
Predicted Effect probably damaging
Transcript: ENSMUST00000025542
AA Change: Y346H

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025542
Gene: ENSMUSG00000024640
AA Change: Y346H

DomainStartEndE-ValueType
Pfam:Aminotran_5 7 357 1.3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161707
Predicted Effect probably damaging
Transcript: ENSMUST00000162053
AA Change: Y343H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125340
Gene: ENSMUSG00000024640
AA Change: Y343H

DomainStartEndE-ValueType
Pfam:Aminotran_5 10 354 1.1e-69 PFAM
Coding Region Coverage
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,744,804 (GRCm39) probably null Het
Alyref G A 11: 120,488,591 (GRCm39) P79L possibly damaging Het
Arhgap28 T C 17: 68,203,231 (GRCm39) D74G probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdc5l A T 17: 45,718,857 (GRCm39) D586E probably damaging Het
Chd3 G T 11: 69,252,022 (GRCm39) Y79* probably null Het
Cnot3 C A 7: 3,659,155 (GRCm39) S467* probably null Het
Col18a1 A T 10: 76,903,457 (GRCm39) probably benign Het
Col19a1 C A 1: 24,367,134 (GRCm39) G483C probably damaging Het
Col5a3 A C 9: 20,715,931 (GRCm39) probably null Het
Dctn5 A T 7: 121,732,382 (GRCm39) N9I probably benign Het
Emc10 T A 7: 44,141,413 (GRCm39) N225I probably damaging Het
Fam219b A G 9: 57,447,981 (GRCm39) Y158C probably damaging Het
Fras1 T C 5: 96,874,394 (GRCm39) V2273A probably benign Het
Frem3 T A 8: 81,339,661 (GRCm39) H651Q possibly damaging Het
Gm4076 T A 13: 85,275,438 (GRCm39) noncoding transcript Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Ifnab T G 4: 88,609,062 (GRCm39) T135P possibly damaging Het
Jag1 T C 2: 136,926,608 (GRCm39) I979V probably benign Het
Kank1 G T 19: 25,403,282 (GRCm39) M1097I probably damaging Het
Kcnq3 A G 15: 65,900,637 (GRCm39) V206A probably damaging Het
Kel T C 6: 41,679,917 (GRCm39) K91R probably benign Het
Kirrel1 G T 3: 86,990,807 (GRCm39) R672S probably damaging Het
Kmt2d A G 15: 98,753,424 (GRCm39) M143T probably benign Het
Kpna1 A G 16: 35,833,289 (GRCm39) I122V probably damaging Het
Lrpap1 A G 5: 35,250,694 (GRCm39) S353P probably damaging Het
Mtfr1l T A 4: 134,259,543 (GRCm39) Q11L probably damaging Het
Muc5b G A 7: 141,416,806 (GRCm39) V3251M probably benign Het
Mup8 C T 4: 60,219,746 (GRCm39) D174N probably benign Het
Nup155 A T 15: 8,176,768 (GRCm39) E1015D probably benign Het
Or10ak14 C A 4: 118,611,131 (GRCm39) L201F probably benign Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
P2rx7 T C 5: 122,801,668 (GRCm39) F188L possibly damaging Het
Pacrg A G 17: 11,058,719 (GRCm39) F13L probably benign Het
Palb2 A T 7: 121,723,722 (GRCm39) S676T possibly damaging Het
Pdia6 T A 12: 17,331,040 (GRCm39) probably null Het
Pfkm A T 15: 98,024,266 (GRCm39) I425F possibly damaging Het
Pikfyve C T 1: 65,291,626 (GRCm39) R1282* probably null Het
Pole C T 5: 110,444,939 (GRCm39) L432F probably damaging Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prr5 G T 15: 84,650,508 (GRCm39) probably benign Het
Prxl2b T C 4: 154,981,058 (GRCm39) probably benign Het
Ptprj C T 2: 90,309,312 (GRCm39) R51K probably benign Het
Qars1 A G 9: 108,386,118 (GRCm39) D103G probably benign Het
Rims2 A T 15: 39,322,989 (GRCm39) I768F possibly damaging Het
Robo4 T A 9: 37,315,481 (GRCm39) V275E probably damaging Het
Ryr2 A G 13: 11,650,468 (GRCm39) probably benign Het
Sez6l T C 5: 112,623,269 (GRCm39) H94R probably benign Het
Slco1c1 T A 6: 141,490,553 (GRCm39) N211K possibly damaging Het
Strbp T C 2: 37,476,515 (GRCm39) probably benign Het
Tceanc2 T A 4: 107,004,878 (GRCm39) H90L probably damaging Het
Tdrkh A T 3: 94,331,844 (GRCm39) T90S possibly damaging Het
Tiam2 A G 17: 3,559,823 (GRCm39) D1288G probably damaging Het
Tln1 T C 4: 43,532,861 (GRCm39) D2447G possibly damaging Het
Tmem63c G A 12: 87,112,323 (GRCm39) V141M probably benign Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Tprkb T A 6: 85,901,400 (GRCm39) C13S probably benign Het
Traf3ip3 T C 1: 192,877,385 (GRCm39) T184A probably damaging Het
Trpc6 T A 9: 8,649,302 (GRCm39) M504K probably benign Het
Ttn G T 2: 76,597,567 (GRCm39) S18036* probably null Het
Wdfy4 A T 14: 32,688,392 (GRCm39) C2914S probably damaging Het
Ylpm1 T A 12: 85,096,032 (GRCm39) probably benign Het
Zfp644 T C 5: 106,785,134 (GRCm39) H471R probably damaging Het
Zfp747l1 T C 7: 126,983,951 (GRCm39) T384A probably benign Het
Zfyve16 C T 13: 92,648,325 (GRCm39) E910K possibly damaging Het
Other mutations in Psat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03017:Psat1 APN 19 15,894,499 (GRCm39) missense possibly damaging 0.52
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
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
Posted On 2016-08-02