Incidental Mutation 'IGL00920:Spty2d1'
ID 27802
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spty2d1
Ensembl Gene ENSMUSG00000049516
Gene Name SPT2 chromatin protein domain containing 1
Synonyms 5830435K17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # IGL00920
Quality Score
Status
Chromosome 7
Chromosomal Location 46640144-46658159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 46648735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 65 (R65G)
Ref Sequence ENSEMBL: ENSMUSP00000059457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061639]
AlphaFold Q68FG3
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: 3,899,187 (GRCm39) D175G probably damaging Het
Cep78 T C 19: 15,958,850 (GRCm39) I165V probably benign Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Dpp9 T C 17: 56,507,599 (GRCm39) T357A probably benign Het
Gm42416 T A 18: 37,085,820 (GRCm39) M1K probably null Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kcnh5 A T 12: 75,023,267 (GRCm39) D600E probably damaging Het
Msantd5f1 T A 4: 73,605,679 (GRCm39) probably benign Het
Ndst4 A G 3: 125,231,860 (GRCm39) D143G probably damaging Het
Nrros A G 16: 31,966,438 (GRCm39) F14S probably benign Het
Or5g9 A T 2: 85,552,583 (GRCm39) Y278F probably damaging Het
Or8g2b T C 9: 39,751,230 (GRCm39) F167L probably benign Het
Pcdh7 A T 5: 57,877,473 (GRCm39) I343F probably damaging Het
Piwil4 C T 9: 14,638,733 (GRCm39) R264H probably damaging Het
Pnpt1 A G 11: 29,107,087 (GRCm39) probably benign Het
Pycr2 T A 1: 180,733,958 (GRCm39) probably benign Het
Rfx7 T A 9: 72,500,638 (GRCm39) Y133N probably damaging Het
Slc17a3 A G 13: 24,040,464 (GRCm39) I263V probably benign Het
Spink5 A T 18: 44,136,276 (GRCm39) E562D probably damaging Het
Thbs1 C T 2: 117,943,682 (GRCm39) T100I probably damaging Het
Triml1 T C 8: 43,591,719 (GRCm39) N213S probably damaging Het
Trp53bp2 T C 1: 182,272,219 (GRCm39) probably benign Het
Vmn2r9 T C 5: 108,995,890 (GRCm39) I253V possibly damaging Het
Zan C T 5: 137,462,786 (GRCm39) V798I unknown Het
Zfp608 C T 18: 55,022,903 (GRCm39) M1504I probably benign Het
Other mutations in Spty2d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01763:Spty2d1 APN 7 46,649,596 (GRCm39) missense probably damaging 0.99
IGL01988:Spty2d1 APN 7 46,647,358 (GRCm39) missense probably damaging 0.99
IGL02149:Spty2d1 APN 7 46,657,892 (GRCm39) utr 5 prime probably benign
IGL02236:Spty2d1 APN 7 46,647,360 (GRCm39) missense probably benign 0.02
IGL02273:Spty2d1 APN 7 46,647,321 (GRCm39) missense probably damaging 0.97
3-1:Spty2d1 UTSW 7 46,648,425 (GRCm39) missense probably damaging 1.00
R0184:Spty2d1 UTSW 7 46,647,322 (GRCm39) missense possibly damaging 0.94
R0201:Spty2d1 UTSW 7 46,647,649 (GRCm39) nonsense probably null
R1592:Spty2d1 UTSW 7 46,648,637 (GRCm39) missense possibly damaging 0.56
R2116:Spty2d1 UTSW 7 46,645,933 (GRCm39) missense probably damaging 1.00
R2171:Spty2d1 UTSW 7 46,644,361 (GRCm39) missense probably damaging 1.00
R2898:Spty2d1 UTSW 7 46,643,100 (GRCm39) missense unknown
R3857:Spty2d1 UTSW 7 46,648,044 (GRCm39) missense probably benign 0.04
R4080:Spty2d1 UTSW 7 46,648,329 (GRCm39) missense probably damaging 0.99
R4319:Spty2d1 UTSW 7 46,647,883 (GRCm39) missense probably damaging 0.99
R4732:Spty2d1 UTSW 7 46,645,858 (GRCm39) missense probably damaging 1.00
R4733:Spty2d1 UTSW 7 46,645,858 (GRCm39) missense probably damaging 1.00
R5317:Spty2d1 UTSW 7 46,648,049 (GRCm39) missense possibly damaging 0.61
R5485:Spty2d1 UTSW 7 46,647,633 (GRCm39) missense possibly damaging 0.76
R5711:Spty2d1 UTSW 7 46,647,845 (GRCm39) missense possibly damaging 0.84
R5761:Spty2d1 UTSW 7 46,648,032 (GRCm39) missense probably damaging 1.00
R6418:Spty2d1 UTSW 7 46,647,751 (GRCm39) missense probably damaging 1.00
R7182:Spty2d1 UTSW 7 46,648,271 (GRCm39) missense probably benign 0.09
R7372:Spty2d1 UTSW 7 46,648,692 (GRCm39) missense probably damaging 1.00
R7798:Spty2d1 UTSW 7 46,645,804 (GRCm39) missense probably damaging 1.00
R8229:Spty2d1 UTSW 7 46,647,522 (GRCm39) missense probably benign 0.08
R8670:Spty2d1 UTSW 7 46,647,519 (GRCm39) missense probably benign 0.00
R9314:Spty2d1 UTSW 7 46,648,486 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17