Incidental Mutation 'IGL01477:Supt5'
ID 88499
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Supt5
Ensembl Gene ENSMUSG00000003435
Gene Name suppressor of Ty 5
Synonyms Supt5h, Spt5
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01477
Quality Score
Status
Chromosome 7
Chromosomal Location 28314891-28338746 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28317264 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 731 (H731R)
Ref Sequence ENSEMBL: ENSMUSP00000147164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000207563] [ENSMUST00000209141]
AlphaFold O55201
Predicted Effect possibly damaging
Transcript: ENSMUST00000003527
AA Change: H731R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435
AA Change: H731R

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
coiled coil region 36 63 N/A INTRINSIC
Pfam:Spt5_N 73 170 8.1e-17 PFAM
NGN 174 265 2.2e-14 SMART
KOW 270 297 8.77e0 SMART
KOW 417 444 8.69e-4 SMART
KOW 469 496 9.1e-7 SMART
KOW 591 618 2.46e-3 SMART
low complexity region 677 695 N/A INTRINSIC
KOW 697 724 3.93e-2 SMART
CTD 766 902 2.09e-31 SMART
KOW 1028 1055 9.69e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209105
Predicted Effect possibly damaging
Transcript: ENSMUST00000209141
AA Change: H731R

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A G 19: 45,978,604 F33S probably damaging Het
9330182L06Rik A T 5: 9,437,756 K547N probably damaging Het
Aven T C 2: 112,629,932 S132P probably benign Het
Cadps2 G A 6: 23,263,673 T1233M probably damaging Het
Cdh16 T C 8: 104,618,508 E383G probably damaging Het
Cxxc1 A G 18: 74,219,914 K432E possibly damaging Het
Eprs G T 1: 185,411,375 probably benign Het
Etv4 T C 11: 101,777,128 D74G possibly damaging Het
Glb1l A T 1: 75,208,706 I120N probably damaging Het
Grpel1 G A 5: 36,470,642 R89Q probably damaging Het
Ifi44 C T 3: 151,745,998 probably benign Het
Ikzf3 T C 11: 98,488,857 H195R probably damaging Het
Mug2 A G 6: 122,081,684 probably benign Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr895 T A 9: 38,269,319 S269T possibly damaging Het
Pcnx A T 12: 81,973,241 K1346I probably damaging Het
Pcnx2 C T 8: 125,785,305 V1421I probably damaging Het
Pnpla8 A G 12: 44,283,658 D331G probably damaging Het
Ppp1r3a A T 6: 14,718,346 N856K probably damaging Het
Ptk7 T C 17: 46,576,880 D542G possibly damaging Het
Slc4a2 A G 5: 24,430,156 probably benign Het
Smarce1 C T 11: 99,210,187 G373E possibly damaging Het
Speg A G 1: 75,391,897 N697S probably damaging Het
Tmod2 T C 9: 75,595,001 H68R probably benign Het
Vmn2r68 A C 7: 85,233,483 C354G probably damaging Het
Zfp277 A T 12: 40,320,676 Y425N probably benign Het
Other mutations in Supt5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Supt5 APN 7 28315382 missense probably benign 0.08
IGL01077:Supt5 APN 7 28323788 nonsense probably null
IGL01813:Supt5 APN 7 28323975 missense probably damaging 0.99
IGL02405:Supt5 APN 7 28315824 missense probably benign 0.00
IGL02525:Supt5 APN 7 28318947 splice site probably benign
IGL02584:Supt5 APN 7 28326167 missense probably benign 0.08
IGL03387:Supt5 APN 7 28320083 missense possibly damaging 0.89
R0420:Supt5 UTSW 7 28317329 splice site probably benign
R0715:Supt5 UTSW 7 28329037 missense probably damaging 1.00
R1226:Supt5 UTSW 7 28328747 missense probably benign 0.03
R1655:Supt5 UTSW 7 28330024 missense probably benign 0.00
R1801:Supt5 UTSW 7 28317214 critical splice donor site probably null
R2424:Supt5 UTSW 7 28315165 missense possibly damaging 0.47
R2883:Supt5 UTSW 7 28329320 missense possibly damaging 0.75
R4280:Supt5 UTSW 7 28317073 missense probably damaging 1.00
R4614:Supt5 UTSW 7 28325972 missense possibly damaging 0.65
R4792:Supt5 UTSW 7 28316329 missense probably benign 0.19
R4997:Supt5 UTSW 7 28316037 missense probably benign 0.05
R5041:Supt5 UTSW 7 28315380 missense probably damaging 1.00
R5062:Supt5 UTSW 7 28329015 splice site probably null
R5119:Supt5 UTSW 7 28316370 missense probably damaging 1.00
R5170:Supt5 UTSW 7 28316083 missense probably benign 0.05
R5687:Supt5 UTSW 7 28317763 missense probably benign 0.27
R5720:Supt5 UTSW 7 28322568 missense probably damaging 0.97
R5935:Supt5 UTSW 7 28329475 missense probably benign 0.09
R6032:Supt5 UTSW 7 28316175 missense probably damaging 1.00
R6032:Supt5 UTSW 7 28316175 missense probably damaging 1.00
R6049:Supt5 UTSW 7 28315197 missense probably benign 0.32
R7043:Supt5 UTSW 7 28320010 missense probably benign 0.00
R7085:Supt5 UTSW 7 28331489 missense unknown
R7152:Supt5 UTSW 7 28323900 missense probably benign 0.00
R7201:Supt5 UTSW 7 28316788 missense probably benign 0.03
R7401:Supt5 UTSW 7 28323772 missense probably damaging 0.99
R7959:Supt5 UTSW 7 28315799 missense probably benign 0.43
R8181:Supt5 UTSW 7 28331474 missense unknown
R8998:Supt5 UTSW 7 28338423 missense unknown
R8999:Supt5 UTSW 7 28338423 missense unknown
R9021:Supt5 UTSW 7 28317246 missense probably damaging 0.98
R9314:Supt5 UTSW 7 28320374 missense probably damaging 0.99
R9345:Supt5 UTSW 7 28316987 missense probably benign 0.03
R9477:Supt5 UTSW 7 28326075 missense probably damaging 0.99
R9568:Supt5 UTSW 7 28315263 missense probably damaging 1.00
Z1177:Supt5 UTSW 7 28317031 missense possibly damaging 0.90
Posted On 2013-11-18