Incidental Mutation 'IGL02559:Thap3'
ID 298603
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thap3
Ensembl Gene ENSMUSG00000039759
Gene Name THAP domain containing, apoptosis associated protein 3
Synonyms 2210418H06Rik, 2010013E08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL02559
Quality Score
Status
Chromosome 4
Chromosomal Location 152067095-152073443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152068144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 106 (D106G)
Ref Sequence ENSEMBL: ENSMUSP00000035240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036680] [ENSMUST00000062904] [ENSMUST00000105665] [ENSMUST00000139069]
AlphaFold Q8BJ25
Predicted Effect probably benign
Transcript: ENSMUST00000036680
AA Change: D106G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000035240
Gene: ENSMUSG00000039759
AA Change: D106G

DomainStartEndE-ValueType
THAP 3 88 5.28e-19 SMART
DM3 23 87 6.96e-21 SMART
coiled coil region 166 189 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000062904
SMART Domains Protein: ENSMUSP00000051643
Gene: ENSMUSG00000039768

DomainStartEndE-ValueType
DnaJ 13 74 4.41e-24 SMART
low complexity region 102 122 N/A INTRINSIC
Pfam:DUF3395 410 549 2e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105665
SMART Domains Protein: ENSMUSP00000101290
Gene: ENSMUSG00000039759

DomainStartEndE-ValueType
THAP 3 88 5.28e-19 SMART
DM3 23 87 6.96e-21 SMART
coiled coil region 132 155 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128582
Predicted Effect probably benign
Transcript: ENSMUST00000139069
SMART Domains Protein: ENSMUSP00000119604
Gene: ENSMUSG00000039768

DomainStartEndE-ValueType
DnaJ 13 74 4.41e-24 SMART
low complexity region 102 122 N/A INTRINSIC
coiled coil region 318 349 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146471
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149337
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp C T 16: 56,507,433 (GRCm39) Q1004* probably null Het
Bahcc1 A G 11: 120,175,998 (GRCm39) D1914G probably damaging Het
Bcl11b A T 12: 107,881,653 (GRCm39) probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Col24a1 A T 3: 145,019,934 (GRCm39) I102F probably benign Het
Col7a1 C T 9: 108,802,284 (GRCm39) R2063C unknown Het
Ddo T A 10: 40,523,517 (GRCm39) L169Q probably damaging Het
Defb4 G T 8: 19,251,313 (GRCm39) C60F probably damaging Het
Dock9 A T 14: 121,862,559 (GRCm39) probably benign Het
Dysf A T 6: 84,044,428 (GRCm39) probably benign Het
Fasn G A 11: 120,699,892 (GRCm39) A2253V possibly damaging Het
Fbxw26 T C 9: 109,551,232 (GRCm39) D355G probably benign Het
Gak C T 5: 108,732,098 (GRCm39) E797K probably null Het
Gm10654 T C 8: 71,384,774 (GRCm39) noncoding transcript Het
Gnas T C 2: 174,183,729 (GRCm39) probably benign Het
H2bc11 T A 13: 22,227,533 (GRCm39) V45E possibly damaging Het
Hdac3 A G 18: 38,087,944 (GRCm39) F8S probably damaging Het
Hrh4 T C 18: 13,140,301 (GRCm39) probably null Het
Klhl1 A G 14: 96,389,396 (GRCm39) V586A possibly damaging Het
Lct T C 1: 128,222,003 (GRCm39) N1512S probably damaging Het
Mmp28 G T 11: 83,338,566 (GRCm39) N128K probably benign Het
Mndal T C 1: 173,700,486 (GRCm39) T162A probably benign Het
Myh3 A G 11: 66,991,921 (GRCm39) E1822G possibly damaging Het
Mylpf A G 7: 126,813,315 (GRCm39) Y133C probably damaging Het
Nup210l G A 3: 90,067,260 (GRCm39) A767T probably benign Het
Or10j3b T C 1: 173,044,088 (GRCm39) V290A probably damaging Het
Or52n2 T A 7: 104,542,161 (GRCm39) R225W probably benign Het
Or5au1 A G 14: 52,273,464 (GRCm39) Y35H probably damaging Het
Paics A G 5: 77,112,451 (GRCm39) I312V possibly damaging Het
Pkdrej G T 15: 85,702,049 (GRCm39) Q1296K probably benign Het
Rufy1 A G 11: 50,311,310 (GRCm39) F170L probably damaging Het
Shcbp1 T A 8: 4,799,305 (GRCm39) E93V probably damaging Het
Slamf1 T A 1: 171,594,826 (GRCm39) I11K possibly damaging Het
Slc5a5 C T 8: 71,342,915 (GRCm39) G215D probably damaging Het
Slco1a1 A T 6: 141,867,514 (GRCm39) V473D probably benign Het
Slit1 A G 19: 41,709,524 (GRCm39) V123A probably benign Het
Srgap2 A C 1: 131,452,674 (GRCm39) probably null Het
Stk32c T C 7: 138,700,606 (GRCm39) M208V probably benign Het
Syt15 T C 14: 33,943,760 (GRCm39) V103A probably benign Het
Tacc2 T A 7: 130,360,997 (GRCm39) L456Q probably damaging Het
Tanc1 A G 2: 59,554,998 (GRCm39) probably benign Het
Tepsin G T 11: 119,987,731 (GRCm39) D62E probably benign Het
Ttn T C 2: 76,616,561 (GRCm39) D14818G probably damaging Het
Txndc2 T C 17: 65,946,585 (GRCm39) N39S possibly damaging Het
Ubxn11 A G 4: 133,852,254 (GRCm39) E200G probably damaging Het
Vmn2r11 T G 5: 109,200,046 (GRCm39) Q469P probably damaging Het
Yipf2 T C 9: 21,503,482 (GRCm39) T22A probably damaging Het
Ypel1 T C 16: 16,927,515 (GRCm39) K26E possibly damaging Het
Other mutations in Thap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02709:Thap3 APN 4 152,070,169 (GRCm39) missense probably damaging 0.99
R1099:Thap3 UTSW 4 152,067,788 (GRCm39) missense probably benign 0.00
R1448:Thap3 UTSW 4 152,067,673 (GRCm39) missense possibly damaging 0.91
R1661:Thap3 UTSW 4 152,070,161 (GRCm39) missense probably damaging 1.00
R1665:Thap3 UTSW 4 152,070,161 (GRCm39) missense probably damaging 1.00
R1879:Thap3 UTSW 4 152,067,593 (GRCm39) missense probably benign
R5489:Thap3 UTSW 4 152,070,109 (GRCm39) unclassified probably benign
R7039:Thap3 UTSW 4 152,070,149 (GRCm39) missense probably damaging 1.00
R7130:Thap3 UTSW 4 152,073,373 (GRCm39) missense possibly damaging 0.91
Posted On 2015-04-16