Incidental Mutation 'R5138:Psat1'
ID 396328
Institutional Source Beutler Lab
Gene Symbol Psat1
Ensembl Gene ENSMUSG00000024640
Gene Name phosphoserine aminotransferase 1
Synonyms PSA, D8Ertd814e, EPIP
MMRRC Submission 042724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5138 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 15882487-15902423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 15892312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 216 (F216S)
Ref Sequence ENSEMBL: ENSMUSP00000125340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025542] [ENSMUST00000162053] [ENSMUST00000162416]
AlphaFold Q99K85
Predicted Effect probably benign
Transcript: ENSMUST00000025542
AA Change: F219S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025542
Gene: ENSMUSG00000024640
AA Change: F219S

DomainStartEndE-ValueType
Pfam:Aminotran_5 7 357 1.3e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159264
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160170
Predicted Effect possibly damaging
Transcript: ENSMUST00000162053
AA Change: F216S

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125340
Gene: ENSMUSG00000024640
AA Change: F216S

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

DomainStartEndE-ValueType
Pfam:Aminotran_5 1 157 6.5e-32 PFAM
Meta Mutation Damage Score 0.1643 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 97% (76/78)
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
4931429L15Rik C A 9: 46,218,119 (GRCm39) probably null Het
Actr10 G A 12: 71,008,653 (GRCm39) G362E probably damaging Het
Aldh1a3 T C 7: 66,057,600 (GRCm39) T278A probably damaging Het
Arpp21 T A 9: 112,008,152 (GRCm39) K116M probably damaging Het
Arrdc3 T C 13: 81,039,184 (GRCm39) Y72H probably damaging Het
Atr T C 9: 95,819,649 (GRCm39) V2212A probably benign Het
Bcdin3d A G 15: 99,368,932 (GRCm39) F89S possibly damaging Het
Cacna1d C A 14: 30,212,929 (GRCm39) A44S probably benign Het
Cbx3 A G 6: 51,452,269 (GRCm39) E28G probably damaging Het
Cdh23 A T 10: 60,148,061 (GRCm39) F2722L probably damaging Het
Clec11a A G 7: 43,954,062 (GRCm39) V297A probably benign Het
Clk2 C A 3: 89,082,806 (GRCm39) probably benign Het
Clybl T A 14: 122,608,716 (GRCm39) C103S possibly damaging Het
Col12a1 T A 9: 79,551,248 (GRCm39) N2123Y probably damaging Het
Corin G A 5: 72,496,402 (GRCm39) P517L probably damaging Het
Ddhd2 A T 8: 26,217,726 (GRCm39) I717N probably damaging Het
Derl2 C A 11: 70,905,390 (GRCm39) G31* probably null Het
Dgcr8 A G 16: 18,095,941 (GRCm39) V523A probably damaging Het
Dnah8 T C 17: 30,984,571 (GRCm39) S3090P probably damaging Het
Dsp C A 13: 38,367,274 (GRCm39) H641N probably benign Het
Dsp A T 13: 38,379,821 (GRCm39) T1590S possibly damaging Het
Duox2 A T 2: 122,128,012 (GRCm39) L57Q probably damaging Het
Etfdh A T 3: 79,530,880 (GRCm39) V47D probably benign Het
Exoc1 T C 5: 76,715,922 (GRCm39) Y823H probably damaging Het
Fam81a C T 9: 70,006,457 (GRCm39) R185K probably benign Het
Fsip2 A G 2: 82,811,768 (GRCm39) I2696V probably benign Het
Glis1 GCACACA GCACA 4: 107,480,302 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,246,664 (GRCm39) N1548K probably benign Het
H3c2 G A 13: 23,936,613 (GRCm39) R84H probably damaging Het
Hkdc1 A T 10: 62,234,470 (GRCm39) I575N probably damaging Het
Ifi208 A G 1: 173,518,239 (GRCm39) I449V probably null Het
Ino80 T C 2: 119,213,902 (GRCm39) T1223A probably damaging Het
Kctd9 T C 14: 67,966,197 (GRCm39) probably null Het
Khdrbs1 A G 4: 129,635,647 (GRCm39) Y103H probably benign Het
Kmt2e A G 5: 23,707,693 (GRCm39) H1752R probably damaging Het
Lrp5 T A 19: 3,678,319 (GRCm39) Q512L probably benign Het
Map2k5 T C 9: 63,170,440 (GRCm39) T293A probably damaging Het
Myo7a C A 7: 97,732,806 (GRCm39) R657L probably damaging Het
Myrfl A G 10: 116,631,963 (GRCm39) probably null Het
Nfatc2 G A 2: 168,378,229 (GRCm39) H258Y probably damaging Het
Nup205 T A 6: 35,202,801 (GRCm39) L1336Q probably damaging Het
Or10z1 A G 1: 174,078,395 (GRCm39) S33P probably damaging Het
Or4c113 T C 2: 88,885,291 (GRCm39) I160V probably benign Het
Or5an10 T C 19: 12,276,140 (GRCm39) M119V possibly damaging Het
Otog T A 7: 45,899,430 (GRCm39) S244T possibly damaging Het
Pcdh17 T G 14: 84,684,649 (GRCm39) I372S probably damaging Het
Pira13 A T 7: 3,827,556 (GRCm39) Y200* probably null Het
Plagl1 A G 10: 13,003,919 (GRCm39) probably benign Het
Pnpla7 T C 2: 24,931,115 (GRCm39) F910S possibly damaging Het
Prdm13 G A 4: 21,679,507 (GRCm39) P328S unknown Het
Prdm5 C T 6: 65,833,086 (GRCm39) Q152* probably null Het
Psg21 A T 7: 18,390,453 (GRCm39) M1K probably null Het
Rab11fip3 A T 17: 26,210,000 (GRCm39) S994T probably benign Het
Rax A G 18: 66,071,389 (GRCm39) probably benign Het
Rgs22 A T 15: 36,099,934 (GRCm39) S260R probably benign Het
Ryr2 A T 13: 11,675,175 (GRCm39) H3317Q probably damaging Het
Sc5d A G 9: 42,166,811 (GRCm39) Y243H probably damaging Het
Serpinf1 T C 11: 75,305,854 (GRCm39) E178G probably damaging Het
Slc15a3 A T 19: 10,833,369 (GRCm39) Y462F probably damaging Het
Slc9b1 G A 3: 135,063,534 (GRCm39) probably benign Het
Slit2 C T 5: 48,439,309 (GRCm39) P1111S probably damaging Het
Slit3 T C 11: 35,479,812 (GRCm39) Y330H probably damaging Het
Snw1 T C 12: 87,507,205 (GRCm39) K204E probably benign Het
Steap1 A G 5: 5,786,486 (GRCm39) I317T probably damaging Het
Sval2 A G 6: 41,838,879 (GRCm39) N20S probably damaging Het
Tfrc C A 16: 32,434,027 (GRCm39) Y85* probably null Het
Tmem87a T C 2: 120,202,026 (GRCm39) T412A possibly damaging Het
Utp20 T C 10: 88,583,239 (GRCm39) K2705E probably damaging Het
Vmn1r230 A T 17: 21,067,230 (GRCm39) K140* probably null Het
Vmn2r62 A T 7: 42,414,240 (GRCm39) H734Q possibly damaging Het
Zbtb8os T A 4: 129,240,719 (GRCm39) probably benign Het
Zfp608 A T 18: 55,024,871 (GRCm39) H1466Q probably damaging Het
Zfp957 C T 14: 79,450,362 (GRCm39) C479Y probably 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
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 PCR Primer
(F):5'- AAAGATCGTTGAGTGTCTCTGG -3'
(R):5'- TGTTCCTAGGCAGAAATGGGTC -3'

Sequencing Primer
(F):5'- CTGGGGTGCTTGGGTCACC -3'
(R):5'- TCCTAGGCAGAAATGGGTCACTTC -3'
Posted On 2016-06-21