Incidental Mutation 'IGL00920:Spty2d1'
ID27802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spty2d1
Ensembl Gene ENSMUSG00000049516
Gene NameSPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)
Synonyms5830435K17Rik
Accession Numbers

Genbank: NM_175318; MGI: 2142062

Is this an essential gene? Probably essential (E-score: 0.916) question?
Stock #IGL00920
Quality Score
Status
Chromosome7
Chromosomal Location46990396-47008411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46998987 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 65 (R65G)
Ref Sequence ENSEMBL: ENSMUSP00000059457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061639]
Predicted Effect probably damaging
Transcript: ENSMUST00000061639
AA Change: R65G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000059457
Gene: ENSMUSG00000049516
AA Change: R65G

DomainStartEndE-ValueType
low complexity region 27 39 N/A INTRINSIC
coiled coil region 45 82 N/A INTRINSIC
low complexity region 143 165 N/A INTRINSIC
low complexity region 199 215 N/A INTRINSIC
low complexity region 218 231 N/A INTRINSIC
internal_repeat_1 283 336 4.09e-5 PROSPERO
low complexity region 338 353 N/A INTRINSIC
internal_repeat_1 366 420 4.09e-5 PROSPERO
low complexity region 434 468 N/A INTRINSIC
low complexity region 490 504 N/A INTRINSIC
low complexity region 541 552 N/A INTRINSIC
SPT2 573 680 1.3e-32 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209e T C 8: 3,849,187 D175G probably damaging Het
Cep78 T C 19: 15,981,486 I165V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Dpp9 T C 17: 56,200,599 T357A probably benign Het
Gm42416 T A 18: 36,952,767 M1K probably null Het
Gm428 T A 4: 73,687,442 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh5 A T 12: 74,976,493 D600E probably damaging Het
Ndst4 A G 3: 125,438,211 D143G probably damaging Het
Nrros A G 16: 32,147,620 F14S probably benign Het
Olfr1009 A T 2: 85,722,239 Y278F probably damaging Het
Olfr971 T C 9: 39,839,934 F167L probably benign Het
Pcdh7 A T 5: 57,720,131 I343F probably damaging Het
Piwil4 C T 9: 14,727,437 R264H probably damaging Het
Pnpt1 A G 11: 29,157,087 probably benign Het
Pycr2 T A 1: 180,906,393 probably benign Het
Rfx7 T A 9: 72,593,356 Y133N probably damaging Het
Slc17a3 A G 13: 23,856,481 I263V probably benign Het
Spink5 A T 18: 44,003,209 E562D probably damaging Het
Thbs1 C T 2: 118,113,201 T100I probably damaging Het
Triml1 T C 8: 43,138,682 N213S probably damaging Het
Trp53bp2 T C 1: 182,444,654 probably benign Het
Vmn2r9 T C 5: 108,848,024 I253V possibly damaging Het
Zan C T 5: 137,464,524 V798I unknown Het
Zfp608 C T 18: 54,889,831 M1504I probably benign Het
Other mutations in Spty2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Spty2d1 APN 7 46999848 missense probably damaging 0.99
IGL01988:Spty2d1 APN 7 46997610 missense probably damaging 0.99
IGL02149:Spty2d1 APN 7 47008144 utr 5 prime probably benign
IGL02236:Spty2d1 APN 7 46997612 missense probably benign 0.02
IGL02273:Spty2d1 APN 7 46997573 missense probably damaging 0.97
3-1:Spty2d1 UTSW 7 46998677 missense probably damaging 1.00
R0184:Spty2d1 UTSW 7 46997574 missense possibly damaging 0.94
R0201:Spty2d1 UTSW 7 46997901 nonsense probably null
R1592:Spty2d1 UTSW 7 46998889 missense possibly damaging 0.56
R2116:Spty2d1 UTSW 7 46996185 missense probably damaging 1.00
R2171:Spty2d1 UTSW 7 46994613 missense probably damaging 1.00
R2898:Spty2d1 UTSW 7 46993352 missense unknown
R3857:Spty2d1 UTSW 7 46998296 missense probably benign 0.04
R4080:Spty2d1 UTSW 7 46998581 missense probably damaging 0.99
R4319:Spty2d1 UTSW 7 46998135 missense probably damaging 0.99
R4732:Spty2d1 UTSW 7 46996110 missense probably damaging 1.00
R4733:Spty2d1 UTSW 7 46996110 missense probably damaging 1.00
R5317:Spty2d1 UTSW 7 46998301 missense possibly damaging 0.61
R5485:Spty2d1 UTSW 7 46997885 missense possibly damaging 0.76
R5711:Spty2d1 UTSW 7 46998097 missense possibly damaging 0.84
R5761:Spty2d1 UTSW 7 46998284 missense probably damaging 1.00
R6418:Spty2d1 UTSW 7 46998003 missense probably damaging 1.00
R7182:Spty2d1 UTSW 7 46998523 missense probably benign 0.09
R7372:Spty2d1 UTSW 7 46998944 missense probably damaging 1.00
R7798:Spty2d1 UTSW 7 46996056 missense probably damaging 1.00
Posted On2013-04-17