Incidental Mutation 'IGL02079:Gspt1'
ID186069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gspt1
Ensembl Gene ENSMUSG00000062203
Gene NameG1 to S phase transition 1
SynonymsGst-1, G1st, Gst-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL02079
Quality Score
Status
Chromosome16
Chromosomal Location11219292-11254325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 11240829 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 123 (S123P)
Ref Sequence ENSEMBL: ENSMUSP00000130583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080030] [ENSMUST00000167571]
Predicted Effect probably benign
Transcript: ENSMUST00000080030
AA Change: S123P

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: S123P

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: ENSMUST00000166063
Predicted Effect probably benign
Transcript: ENSMUST00000167571
AA Change: S123P

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: S123P

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,481,359 N236I possibly damaging Het
Abl1 T C 2: 31,689,948 probably benign Het
Ago4 A T 4: 126,517,084 M204K probably damaging Het
Alms1 T C 6: 85,628,634 V2422A probably damaging Het
Ap5z1 T C 5: 142,477,113 probably null Het
Arsa T C 15: 89,473,351 T470A probably benign Het
Bri3bp T C 5: 125,454,689 V233A probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb6 T A 6: 41,616,014 D395E possibly damaging Het
Flt1 T A 5: 147,568,831 probably benign Het
Fry A T 5: 150,399,624 N1080I probably damaging Het
Gdpgp1 T A 7: 80,239,020 D266E probably benign Het
Kctd17 T C 15: 78,430,156 probably benign Het
Lamb2 T A 9: 108,482,113 C313S probably damaging Het
Lcor T A 19: 41,555,687 S106R probably benign Het
Lgr5 A C 10: 115,452,194 S776R probably damaging Het
Mettl16 T G 11: 74,817,624 C510G probably damaging Het
Mlip T C 9: 77,239,529 T101A possibly damaging Het
Myh6 A T 14: 54,950,541 L1152Q probably damaging Het
Mylk G A 16: 34,860,631 R87H possibly damaging Het
Npepl1 C T 2: 174,119,390 probably benign Het
Nrxn1 A T 17: 90,643,083 M548K probably damaging Het
Olfr1205 T A 2: 88,831,647 C177S probably damaging Het
Olfr514 T A 7: 108,825,936 E21V probably damaging Het
Pate3 T A 9: 35,646,153 Q69L probably damaging Het
Piwil1 T C 5: 128,742,003 V192A possibly damaging Het
Plcxd2 A T 16: 45,972,343 I211N probably benign Het
Plekhg3 T A 12: 76,560,429 Y88N probably benign Het
Rabgap1l C T 1: 160,738,970 C58Y probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rusc2 A G 4: 43,425,668 S1258G probably benign Het
Scn1a T C 2: 66,323,360 R710G probably benign Het
Wwc1 A G 11: 35,876,058 S457P probably damaging Het
Xdh C T 17: 73,891,277 G1205D probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T C 7: 81,039,230 S1080P probably benign Het
Other mutations in Gspt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Gspt1 APN 16 11222612 missense probably damaging 0.99
IGL00902:Gspt1 APN 16 11232579 missense probably damaging 1.00
IGL00983:Gspt1 APN 16 11230997 splice site probably benign
IGL01775:Gspt1 APN 16 11223295 missense possibly damaging 0.92
IGL02122:Gspt1 APN 16 11229216 missense probably damaging 1.00
IGL02525:Gspt1 APN 16 11230990 missense probably damaging 1.00
IGL03092:Gspt1 APN 16 11238899 missense probably benign 0.11
goliad UTSW 16 11224542 missense probably benign 0.04
R0835:Gspt1 UTSW 16 11238938 missense probably benign
R1519:Gspt1 UTSW 16 11220855 missense probably damaging 1.00
R3410:Gspt1 UTSW 16 11229245 missense probably damaging 1.00
R4834:Gspt1 UTSW 16 11222717 missense probably damaging 1.00
R4866:Gspt1 UTSW 16 11222665 missense possibly damaging 0.69
R5121:Gspt1 UTSW 16 11223301 missense probably damaging 0.99
R5408:Gspt1 UTSW 16 11253855 missense probably benign
R5410:Gspt1 UTSW 16 11230510 missense probably benign 0.00
R5517:Gspt1 UTSW 16 11253979 missense unknown
R5704:Gspt1 UTSW 16 11228193 missense possibly damaging 0.89
R6224:Gspt1 UTSW 16 11224542 missense probably benign 0.04
R6317:Gspt1 UTSW 16 11223208 splice site probably null
R7069:Gspt1 UTSW 16 11222661 missense probably damaging 1.00
R7151:Gspt1 UTSW 16 11253828 missense probably benign 0.05
R7317:Gspt1 UTSW 16 11222657 missense probably benign 0.01
R8137:Gspt1 UTSW 16 11240668 missense probably benign 0.00
Posted On2014-05-07