Incidental Mutation 'IGL00902:Gspt1'
ID 29131
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gspt1
Ensembl Gene ENSMUSG00000062203
Gene Name G1 to S phase transition 1
Synonyms Gst-1, G1st, Gst-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL00902
Quality Score
Status
Chromosome 16
Chromosomal Location 11037156-11072189 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11050443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 303 (V303I)
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: V303I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: V303I

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 noncoding transcript
Transcript: ENSMUST00000166063
Predicted Effect probably damaging
Transcript: ENSMUST00000167571
AA Change: V302I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: V302I

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: ENSMUST00000230245
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 T G 9: 90,070,847 (GRCm39) probably null Het
Akap11 A G 14: 78,733,278 (GRCm39) S1876P probably benign Het
Bltp1 G A 3: 37,095,494 (GRCm39) G1001D probably damaging Het
Capn10 A G 1: 92,870,281 (GRCm39) I256V probably benign Het
Catsperg2 T A 7: 29,400,568 (GRCm39) H262L possibly damaging Het
Col22a1 C A 15: 71,836,508 (GRCm39) G509V probably damaging Het
Dab2ip T C 2: 35,607,124 (GRCm39) F523S probably damaging Het
Dbnl G T 11: 5,748,105 (GRCm39) A313S probably benign Het
Ddo T C 10: 40,523,550 (GRCm39) V180A probably damaging Het
Enox1 A G 14: 77,819,844 (GRCm39) M200V possibly damaging Het
Fabp6 G A 11: 43,489,543 (GRCm39) R33C probably damaging Het
Gm9104 T C 17: 45,776,940 (GRCm39) probably benign Het
Igf2r C T 17: 12,919,245 (GRCm39) C1469Y probably damaging Het
Igflr1 T C 7: 30,266,700 (GRCm39) S183P possibly damaging Het
Itga6 T C 2: 71,679,738 (GRCm39) V1001A probably benign Het
Itih1 G A 14: 30,654,439 (GRCm39) probably benign Het
Itprid2 G A 2: 79,490,822 (GRCm39) R980Q probably damaging Het
Krt86 C T 15: 101,371,741 (GRCm39) H104Y probably benign Het
Lrp5 T C 19: 3,650,774 (GRCm39) N1220S probably damaging Het
Marchf6 A G 15: 31,485,124 (GRCm39) Y434H probably damaging Het
Mbd1 A G 18: 74,408,310 (GRCm39) Y211C possibly damaging Het
Mpeg1 C A 19: 12,439,133 (GRCm39) A197D probably damaging Het
Mroh2b T A 15: 4,944,704 (GRCm39) L435Q probably damaging Het
Mss51 A C 14: 20,536,235 (GRCm39) M160R probably damaging Het
Ndufs7 T G 10: 80,091,839 (GRCm39) Y190* probably null Het
Or6c38 T A 10: 128,929,265 (GRCm39) I193L probably benign Het
Or9g4b T C 2: 85,616,461 (GRCm39) M202T probably benign Het
Pcdh17 A G 14: 84,684,289 (GRCm39) E252G probably damaging Het
Ric1 T C 19: 29,544,631 (GRCm39) V151A probably benign Het
Sgo2a A G 1: 58,055,258 (GRCm39) T481A probably benign Het
Slc5a8 A G 10: 88,755,323 (GRCm39) T477A probably benign Het
Smg5 G A 3: 88,260,392 (GRCm39) V661I probably benign Het
Snx19 A T 9: 30,340,028 (GRCm39) I389F possibly damaging Het
Spem1 A T 11: 69,712,643 (GRCm39) I64N probably damaging Het
Thada A T 17: 84,755,404 (GRCm39) M262K probably damaging Het
Uox A G 3: 146,316,161 (GRCm39) D32G possibly damaging Het
Usp42 A T 5: 143,705,629 (GRCm39) probably benign Het
Usp43 G A 11: 67,782,245 (GRCm39) P391L probably benign Het
Vmn2r56 T C 7: 12,449,426 (GRCm39) S271G probably benign Het
Wdr64 T A 1: 175,556,391 (GRCm39) C213S probably damaging Het
Zfp26 A T 9: 20,350,844 (GRCm39) S194T possibly damaging Het
Other mutations in Gspt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Gspt1 APN 16 11,040,476 (GRCm39) missense probably damaging 0.99
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
R4834:Gspt1 UTSW 16 11,040,581 (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
Posted On 2013-04-17