Incidental Mutation 'R4834:Gspt1'
ID 373105
Institutional Source Beutler Lab
Gene Symbol Gspt1
Ensembl Gene ENSMUSG00000062203
Gene Name G1 to S phase transition 1
Synonyms Gst-1, G1st, Gst-1
MMRRC Submission 041977-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # R4834 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 11037156-11072189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11040581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 576 (K576E)
Ref Sequence ENSEMBL: ENSMUSP00000078940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080030] [ENSMUST00000167571]
AlphaFold Q8R050
PDB Structure Structure of GSPT1/ERF3A-PABC [SOLUTION NMR]
Structure of GSPT1/ERF3A-PABC [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000080030
AA Change: K576E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: K576E

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 35 49 N/A INTRINSIC
Pfam:PAM2 64 81 4.3e-8 PFAM
low complexity region 101 116 N/A INTRINSIC
low complexity region 151 193 N/A INTRINSIC
Pfam:GTP_EFTU 209 482 3.1e-47 PFAM
Pfam:GTP_EFTU_D2 451 518 1.2e-8 PFAM
Pfam:GTP_EFTU_D3 524 632 7.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164098
Predicted Effect probably benign
Transcript: ENSMUST00000167025
AA Change: K39E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203
AA Change: K39E

DomainStartEndE-ValueType
Pfam:GTP_EFTU_D3 18 96 2.2e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167571
AA Change: K575E

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: K575E

DomainStartEndE-ValueType
low complexity region 4 20 N/A INTRINSIC
low complexity region 35 49 N/A INTRINSIC
Pfam:PAM2 64 81 7.1e-8 PFAM
low complexity region 101 116 N/A INTRINSIC
low complexity region 150 192 N/A INTRINSIC
Pfam:GTP_EFTU 208 476 4.3e-49 PFAM
Pfam:GTP_EFTU_D2 450 517 1.3e-7 PFAM
Pfam:GTP_EFTU_D3 523 631 2.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229756
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230245
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230166
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik A C 9: 53,343,787 (GRCm39) D146A possibly damaging Het
Acsl5 C A 19: 55,268,991 (GRCm39) D217E probably benign Het
Acss3 A G 10: 106,920,666 (GRCm39) probably null Het
Adam24 G A 8: 41,132,738 (GRCm39) G69R probably damaging Het
Adgrg7 A T 16: 56,553,232 (GRCm39) W622R probably damaging Het
Ajm1 T C 2: 25,469,530 (GRCm39) E127G possibly damaging Het
Ankrd26 T C 6: 118,500,679 (GRCm39) M931V probably benign Het
Ano8 C T 8: 71,936,939 (GRCm39) V187M probably damaging Het
Ap3d1 A T 10: 80,555,560 (GRCm39) C348S probably damaging Het
Apob T C 12: 8,064,101 (GRCm39) V376A possibly damaging Het
Arhgap21 A T 2: 20,870,130 (GRCm39) D925E probably damaging Het
Bmp6 T A 13: 38,669,817 (GRCm39) V367E probably damaging Het
Bmp8b A T 4: 123,016,843 (GRCm39) Q348L probably damaging Het
Ccr1l1 T C 9: 123,777,742 (GRCm39) K235R probably damaging Het
Cd59a G A 2: 103,944,431 (GRCm39) C93Y probably damaging Het
Clstn3 C T 6: 124,408,912 (GRCm39) probably null Het
Col4a2 C A 8: 11,456,836 (GRCm39) Y236* probably null Het
Csn1s2a T C 5: 87,929,637 (GRCm39) F79L probably benign Het
Cyp4a10 A C 4: 115,383,005 (GRCm39) Y360S probably damaging Het
Cyp4a29 A T 4: 115,106,867 (GRCm39) I175F probably benign Het
Dck T A 5: 88,920,595 (GRCm39) I105N probably damaging Het
Dicer1 A G 12: 104,662,850 (GRCm39) L1577P probably benign Het
Disp2 G A 2: 118,622,985 (GRCm39) S1239N probably benign Het
Dop1b T C 16: 93,536,892 (GRCm39) M1T probably null Het
E130308A19Rik T A 4: 59,690,317 (GRCm39) C50* probably null Het
Elf2 A T 3: 51,184,642 (GRCm39) D14E probably damaging Het
Epm2aip1 C T 9: 111,102,262 (GRCm39) R412C probably benign Het
Foxm1 T C 6: 128,346,410 (GRCm39) F114L probably damaging Het
Glcci1 C T 6: 8,582,601 (GRCm39) R134* probably null Het
Gm57859 C A 11: 113,579,805 (GRCm39) T400K probably benign Het
H2-M10.3 T C 17: 36,678,286 (GRCm39) K180E probably benign Het
Hecw2 A T 1: 53,869,911 (GRCm39) V1439E probably damaging Het
Hr T C 14: 70,797,362 (GRCm39) S561P probably damaging Het
Hunk T C 16: 90,293,086 (GRCm39) V456A probably benign Het
Il1rap T A 16: 26,495,685 (GRCm39) D97E probably damaging Het
Inpp5d T G 1: 87,625,245 (GRCm39) V474G possibly damaging Het
Itsn1 T A 16: 91,703,677 (GRCm39) L87* probably null Het
Izumo3 T C 4: 92,035,208 (GRCm39) D3G possibly damaging Het
Kifc2 T A 15: 76,545,511 (GRCm39) M1K probably null Het
Krt8 T A 15: 101,907,256 (GRCm39) I276F probably damaging Het
Ksr2 C A 5: 117,806,392 (GRCm39) Q402K probably benign Het
Lama2 A G 10: 26,882,745 (GRCm39) V2606A probably benign Het
Met A G 6: 17,491,412 (GRCm39) H58R probably damaging Het
Mier3 C T 13: 111,851,643 (GRCm39) Q542* probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Msl3l2 C T 10: 55,991,655 (GRCm39) R127C probably damaging Het
Naglu T C 11: 100,967,814 (GRCm39) L588P probably benign Het
Nf1 T C 11: 79,437,123 (GRCm39) L2013P probably damaging Het
Nid1 A G 13: 13,683,408 (GRCm39) Y1162C probably damaging Het
Nlrc5 G T 8: 95,232,113 (GRCm39) R1313L probably benign Het
Nrg1 A G 8: 32,407,747 (GRCm39) V162A probably benign Het
Nup188 T C 2: 30,229,596 (GRCm39) L1310P probably damaging Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or14a259 G A 7: 86,012,952 (GRCm39) L198F probably benign Het
Or4f6 A G 2: 111,839,276 (GRCm39) L85P probably damaging Het
Or5ae1 T G 7: 84,565,491 (GRCm39) F168C probably damaging Het
Pbk T A 14: 66,052,733 (GRCm39) L192* probably null Het
Pcdhga4 T C 18: 37,818,490 (GRCm39) I13T probably benign Het
Peg10 A T 6: 4,754,294 (GRCm39) probably benign Het
Polq T A 16: 36,848,176 (GRCm39) V261D probably damaging Het
Ppp2r5b T A 19: 6,280,540 (GRCm39) T313S possibly damaging Het
Ptk2 A T 15: 73,087,945 (GRCm39) probably null Het
Ptpn7 T A 1: 135,065,618 (GRCm39) probably null Het
Rab11fip1 A G 8: 27,643,111 (GRCm39) S563P probably damaging Het
Scn1a A T 2: 66,158,866 (GRCm39) C351* probably null Het
Slc10a5 A T 3: 10,399,859 (GRCm39) V267D probably damaging Het
Slc37a2 T A 9: 37,146,404 (GRCm39) M368L probably damaging Het
Slc49a4 T A 16: 35,555,945 (GRCm39) T172S probably benign Het
Slc6a20b T A 9: 123,425,113 (GRCm39) T585S probably benign Het
Srcap T C 7: 127,156,782 (GRCm39) probably null Het
Tbx18 T C 9: 87,609,502 (GRCm39) M178V possibly damaging Het
Tmprss11b C A 5: 86,811,418 (GRCm39) C172F probably damaging Het
Traf5 T C 1: 191,751,198 (GRCm39) Q91R probably benign Het
Trappc8 A T 18: 20,958,122 (GRCm39) Y1248N probably damaging Het
Trpa1 A G 1: 14,966,747 (GRCm39) L539S possibly damaging Het
Tyrp1 T A 4: 80,764,833 (GRCm39) Y3* probably null Het
Ubr7 A T 12: 102,727,761 (GRCm39) K94N probably damaging Het
Ugt2a1 C A 5: 87,633,894 (GRCm39) probably null Het
Unc50 T A 1: 37,471,710 (GRCm39) I120K probably damaging Het
Usp28 T C 9: 48,912,836 (GRCm39) V29A probably damaging Het
Usp9y A G Y: 1,317,002 (GRCm39) I1849T probably benign Het
Vmn2r102 T A 17: 19,898,203 (GRCm39) V406E probably damaging Het
Vmn2r4 G A 3: 64,317,484 (GRCm39) R85W probably benign Het
Xirp2 A G 2: 67,346,750 (GRCm39) D2997G probably benign Het
Zc2hc1c A T 12: 85,336,982 (GRCm39) E213V probably damaging Het
Zfp420 C T 7: 29,573,759 (GRCm39) probably benign Het
Zfp641 C T 15: 98,191,585 (GRCm39) E34K probably damaging Het
Other mutations in Gspt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Gspt1 APN 16 11,040,476 (GRCm39) missense probably damaging 0.99
IGL00902:Gspt1 APN 16 11,050,443 (GRCm39) missense probably damaging 1.00
IGL00983:Gspt1 APN 16 11,048,861 (GRCm39) splice site probably benign
IGL01775:Gspt1 APN 16 11,041,159 (GRCm39) missense possibly damaging 0.92
IGL02079:Gspt1 APN 16 11,058,693 (GRCm39) missense probably benign 0.17
IGL02122:Gspt1 APN 16 11,047,080 (GRCm39) missense probably damaging 1.00
IGL02525:Gspt1 APN 16 11,048,854 (GRCm39) missense probably damaging 1.00
IGL03092:Gspt1 APN 16 11,056,763 (GRCm39) missense probably benign 0.11
goliad UTSW 16 11,042,406 (GRCm39) missense probably benign 0.04
R0835:Gspt1 UTSW 16 11,056,802 (GRCm39) missense probably benign
R1519:Gspt1 UTSW 16 11,038,719 (GRCm39) missense probably damaging 1.00
R3410:Gspt1 UTSW 16 11,047,109 (GRCm39) missense probably damaging 1.00
R4866:Gspt1 UTSW 16 11,040,529 (GRCm39) missense possibly damaging 0.69
R5121:Gspt1 UTSW 16 11,041,165 (GRCm39) missense probably damaging 0.99
R5408:Gspt1 UTSW 16 11,071,719 (GRCm39) missense probably benign
R5410:Gspt1 UTSW 16 11,048,374 (GRCm39) missense probably benign 0.00
R5517:Gspt1 UTSW 16 11,071,843 (GRCm39) missense unknown
R5704:Gspt1 UTSW 16 11,046,057 (GRCm39) missense possibly damaging 0.89
R6224:Gspt1 UTSW 16 11,042,406 (GRCm39) missense probably benign 0.04
R6317:Gspt1 UTSW 16 11,041,072 (GRCm39) splice site probably null
R7069:Gspt1 UTSW 16 11,040,525 (GRCm39) missense probably damaging 1.00
R7151:Gspt1 UTSW 16 11,071,692 (GRCm39) missense probably benign 0.05
R7317:Gspt1 UTSW 16 11,040,521 (GRCm39) missense probably benign 0.01
R8137:Gspt1 UTSW 16 11,058,532 (GRCm39) missense probably benign 0.00
R9401:Gspt1 UTSW 16 11,050,535 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TACTAAAGCCTGATATCAGAGACAC -3'
(R):5'- AAAGCTAGCATGCTGTCTGTC -3'

Sequencing Primer
(F):5'- GAGACACTGAATAATGCTTACCCTC -3'
(R):5'- AGACAGGGTCCCTCTATGTAG -3'
Posted On 2016-03-01