Incidental Mutation 'IGL02122:Gspt1'
ID280648
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 #IGL02122
Quality Score
Status
Chromosome16
Chromosomal Location11219292-11254325 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 11229216 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 445 (K445R)
Ref Sequence ENSEMBL: ENSMUSP00000130583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080030] [ENSMUST00000167571]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080030
AA Change: K446R

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000078940
Gene: ENSMUSG00000062203
AA Change: K446R

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 benign
Transcript: ENSMUST00000167025
SMART Domains Protein: ENSMUSP00000130959
Gene: ENSMUSG00000062203

DomainStartEndE-ValueType
Pfam:GTP_EFTU_D3 18 96 2.2e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167571
AA Change: K445R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130583
Gene: ENSMUSG00000062203
AA Change: K445R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,170,525 T756I possibly damaging Het
Abi3bp T C 16: 56,687,128 probably benign Het
Adcy5 G A 16: 35,283,612 probably benign Het
Adcy6 T A 15: 98,598,882 H504L possibly damaging Het
Ank2 A G 3: 126,937,874 probably benign Het
Atxn2 A G 5: 121,778,030 D34G probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Carmil1 T C 13: 24,036,558 E657G possibly damaging Het
Cdc25c T C 18: 34,743,985 I212V probably benign Het
Chl1 A G 6: 103,675,137 D338G probably benign Het
Cog6 T C 3: 52,998,342 I361V probably benign Het
Dip2c T C 13: 9,506,659 S80P possibly damaging Het
Dmrtc2 A T 7: 24,872,583 R34S possibly damaging Het
Exph5 A G 9: 53,373,674 N685S probably benign Het
Flnc A T 6: 29,444,336 I684L possibly damaging Het
Foxk1 T A 5: 142,451,429 probably benign Het
Gprc6a T C 10: 51,626,723 N348S probably benign Het
Hace1 T C 10: 45,618,604 V170A probably damaging Het
Hydin T C 8: 110,494,415 I1481T possibly damaging Het
Ighv4-1 A T 12: 113,948,525 L36Q possibly damaging Het
Ints1 G A 5: 139,765,150 Q833* probably null Het
Myo15 T C 11: 60,483,466 F96L probably benign Het
Myom1 G T 17: 71,092,137 R998L probably damaging Het
Nacc2 A G 2: 26,089,948 S159P probably benign Het
Olfr1128 A G 2: 87,545,103 V147A probably benign Het
Olfr178 T C 16: 58,889,771 T150A probably benign Het
Olfr873 T A 9: 20,300,584 L128Q probably damaging Het
Pbrm1 A G 14: 31,089,616 I1197V probably damaging Het
Pde4dip G A 3: 97,767,421 R60C probably damaging Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Pitpnm1 T C 19: 4,107,796 Y499H probably damaging Het
Plekhn1 C T 4: 156,223,856 probably null Het
Prmt8 A G 6: 127,690,717 Y332H probably benign Het
Prpf38a A G 4: 108,579,041 I25T possibly damaging Het
Rpf1 T C 3: 146,521,267 K44E probably benign Het
Rusc2 T C 4: 43,421,685 F702L possibly damaging Het
Ryr2 A T 13: 11,741,869 I1633K probably damaging Het
Slc39a10 G A 1: 46,818,128 A696V probably damaging Het
Tkt T C 14: 30,571,201 V510A possibly damaging Het
Tmem106a C A 11: 101,590,414 N249K probably damaging Het
Tmpo A T 10: 91,164,136 S157T possibly damaging Het
Tspan32 A T 7: 143,015,635 I144F probably damaging Het
Ufsp2 G A 8: 45,995,648 V429I probably benign Het
Unc13c T A 9: 73,734,397 probably benign Het
Usp47 A T 7: 112,106,908 K1259M probably damaging Het
Zdhhc18 A T 4: 133,613,635 probably benign Het
Zfp507 G T 7: 35,776,095 L898I probably damaging 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
IGL02079:Gspt1 APN 16 11240829 missense probably benign 0.17
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 On2015-04-16