Incidental Mutation 'R5634:Pstk'
ID 440030
Institutional Source Beutler Lab
Gene Symbol Pstk
Ensembl Gene ENSMUSG00000063179
Gene Name phosphoseryl-tRNA kinase
Synonyms 5430423O14Rik, LOC381976, 5730458D16Rik
MMRRC Submission 043285-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.919) question?
Stock # R5634 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 130972843-130994497 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 130973072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 57 (D57A)
Ref Sequence ENSEMBL: ENSMUSP00000118636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075610] [ENSMUST00000124096] [ENSMUST00000141914] [ENSMUST00000145114]
AlphaFold Q8BP74
Predicted Effect probably damaging
Transcript: ENSMUST00000075610
AA Change: D57A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075037
Gene: ENSMUSG00000063179
AA Change: D57A

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:AAA_33 20 213 2.7e-11 PFAM
Pfam:KTI12 136 345 3.7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124672
Predicted Effect probably benign
Transcript: ENSMUST00000128092
Predicted Effect probably damaging
Transcript: ENSMUST00000141914
AA Change: D57A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000145114
AA Change: D57A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118636
Gene: ENSMUSG00000063179
AA Change: D57A

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:KTI12 18 88 5.6e-8 PFAM
Pfam:AAA_17 20 212 3.2e-8 PFAM
Pfam:AAA_33 20 213 2.2e-13 PFAM
Pfam:KTI12 136 265 1.6e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207419
Predicted Effect probably benign
Transcript: ENSMUST00000207489
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207933
Meta Mutation Damage Score 0.3109 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (60/61)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,494,921 (GRCm39) probably benign Het
Aen A T 7: 78,552,255 (GRCm39) T34S probably benign Het
Apoh T A 11: 108,302,875 (GRCm39) V280E probably damaging Het
Ccdc87 A G 19: 4,890,693 (GRCm39) H395R probably benign Het
Ccrl2 T A 9: 110,885,055 (GRCm39) probably null Het
Cdh20 T C 1: 104,902,800 (GRCm39) F497S probably damaging Het
Cfap54 C A 10: 92,740,125 (GRCm39) probably benign Het
Cimap1b T A 15: 89,262,410 (GRCm39) T70S probably benign Het
Cipc T A 12: 86,999,749 (GRCm39) probably null Het
Col14a1 T A 15: 55,381,694 (GRCm39) Y1756N probably damaging Het
Cyp2c54 G A 19: 40,060,858 (GRCm39) A95V possibly damaging Het
Dcdc5 A G 2: 106,234,325 (GRCm39) noncoding transcript Het
Dnah17 T C 11: 117,943,752 (GRCm39) probably null Het
Eepd1 A T 9: 25,514,849 (GRCm39) N552I probably benign Het
Eif2ak4 A T 2: 118,292,792 (GRCm39) R1218W probably damaging Het
Fbxw18 T A 9: 109,505,871 (GRCm39) I467F possibly damaging Het
Ffar4 GCTTCTT GCTT 19: 38,102,373 (GRCm39) probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gpha2 A G 19: 6,276,890 (GRCm39) T25A probably benign Het
Grin3a T A 4: 49,792,843 (GRCm39) I297F probably damaging Het
Herc2 G A 7: 55,856,531 (GRCm39) G3924R probably damaging Het
Hmcn2 G T 2: 31,223,893 (GRCm39) D97Y probably damaging Het
Igdcc4 G A 9: 65,041,828 (GRCm39) G1131D probably benign Het
Il18rap T C 1: 40,578,536 (GRCm39) probably benign Het
Ino80d C A 1: 63,101,442 (GRCm39) probably benign Het
Klhl1 T C 14: 96,477,707 (GRCm39) T454A probably damaging Het
Krt84 C A 15: 101,437,084 (GRCm39) V360L probably benign Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Lrrc37 T C 11: 103,432,840 (GRCm39) N1267S possibly damaging Het
Mapkbp1 A G 2: 119,803,576 (GRCm39) N15S probably damaging Het
Med13l T C 5: 118,698,915 (GRCm39) F22S possibly damaging Het
Mrc2 T A 11: 105,227,040 (GRCm39) C548* probably null Het
Nacad T C 11: 6,552,387 (GRCm39) E268G possibly damaging Het
Nfxl1 A G 5: 72,686,833 (GRCm39) C527R probably damaging Het
Nphp1 A T 2: 127,601,570 (GRCm39) C412S possibly damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4g16 A G 2: 111,137,437 (GRCm39) I296V probably benign Het
Per2 C T 1: 91,372,429 (GRCm39) C215Y probably benign Het
Pias1 T C 9: 62,803,255 (GRCm39) T343A probably benign Het
Pja2 C T 17: 64,599,862 (GRCm39) V541M probably damaging Het
Plxna4 G A 6: 32,214,658 (GRCm39) Q608* probably null Het
Ppil4 T A 10: 7,690,542 (GRCm39) D398E probably benign Het
Ppp4r3a T A 12: 101,009,780 (GRCm39) D8V probably damaging Het
Ptprd T C 4: 75,990,255 (GRCm39) I53V probably benign Het
Pyroxd2 A G 19: 42,728,924 (GRCm39) F159L probably benign Het
Rnf103 A G 6: 71,486,601 (GRCm39) M411V probably benign Het
Scn4a T C 11: 106,220,830 (GRCm39) D943G probably benign Het
Sdk2 T C 11: 113,742,540 (GRCm39) T790A probably damaging Het
Sfr1 T C 19: 47,722,310 (GRCm39) L242P probably damaging Het
Snx25 T C 8: 46,494,428 (GRCm39) D819G possibly damaging Het
Sult2b1 A G 7: 45,383,506 (GRCm39) V183A probably damaging Het
Tcf4 C A 18: 69,769,918 (GRCm39) S8R possibly damaging Het
Ttc7 A G 17: 87,649,515 (GRCm39) D531G probably benign Het
Uap1l1 A C 2: 25,254,145 (GRCm39) C271G probably damaging Het
Ubtf T C 11: 102,201,150 (GRCm39) Y268C probably damaging Het
Vinac1 A T 2: 128,881,406 (GRCm39) D173E probably benign Het
Zfp951 A T 5: 104,963,155 (GRCm39) M137K probably benign Het
Other mutations in Pstk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Pstk APN 7 130,972,922 (GRCm39) missense probably benign
R1631:Pstk UTSW 7 130,986,271 (GRCm39) missense possibly damaging 0.73
R1869:Pstk UTSW 7 130,989,526 (GRCm39) missense probably damaging 1.00
R5730:Pstk UTSW 7 130,975,503 (GRCm39) missense probably damaging 0.99
R7474:Pstk UTSW 7 130,975,362 (GRCm39) missense probably benign 0.01
R8725:Pstk UTSW 7 130,973,024 (GRCm39) missense possibly damaging 0.87
R8727:Pstk UTSW 7 130,973,024 (GRCm39) missense possibly damaging 0.87
Predicted Primers PCR Primer
(F):5'- TTTCTGGAGACTGCAGCAAGG -3'
(R):5'- ACAAAGCTCTGACCATATTATTCCG -3'

Sequencing Primer
(F):5'- ACTGCAGCAAGGGCATG -3'
(R):5'- TTATTCCGAAAAAGGTCTACAGAGCG -3'
Posted On 2016-11-08