Incidental Mutation 'IGL02709:Thap3'
ID 304478
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 # IGL02709
Quality Score
Status
Chromosome 4
Chromosomal Location 152067095-152073443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 152070169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 75 (H75L)
Ref Sequence ENSEMBL: ENSMUSP00000035240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036680] [ENSMUST00000055688] [ENSMUST00000062904] [ENSMUST00000105665] [ENSMUST00000139069]
AlphaFold Q8BJ25
Predicted Effect probably damaging
Transcript: ENSMUST00000036680
AA Change: H75L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035240
Gene: ENSMUSG00000039759
AA Change: H75L

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: ENSMUST00000055688
SMART Domains Protein: ENSMUSP00000062590
Gene: ENSMUSG00000047777

DomainStartEndE-ValueType
low complexity region 103 122 N/A INTRINSIC
low complexity region 214 227 N/A INTRINSIC
PHD 230 274 4.35e-5 SMART
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 damaging
Transcript: ENSMUST00000105665
AA Change: H75L

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101290
Gene: ENSMUSG00000039759
AA Change: H75L

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 noncoding transcript
Transcript: ENSMUST00000149337
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146471
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,654,619 (GRCm39) Y151C probably damaging Het
Aco1 G A 4: 40,180,199 (GRCm39) V367M possibly damaging Het
Acsm5 G A 7: 119,134,041 (GRCm39) W274* probably null Het
Ago1 G A 4: 126,347,433 (GRCm39) Q135* probably null Het
Bmpr1b A T 3: 141,562,314 (GRCm39) L291Q probably damaging Het
Cdcp1 A G 9: 123,002,879 (GRCm39) Y731H probably damaging Het
Clrn2 A G 5: 45,617,495 (GRCm39) N122S probably damaging Het
Col4a3 G T 1: 82,656,833 (GRCm39) G751W unknown Het
Ctsc C T 7: 87,957,347 (GRCm39) A294V probably damaging Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Dennd6b A T 15: 89,075,125 (GRCm39) probably benign Het
Dnah10 T A 5: 124,850,809 (GRCm39) Y1659* probably null Het
Dspp A C 5: 104,325,116 (GRCm39) D493A unknown Het
Dyrk1a C T 16: 94,486,102 (GRCm39) A445V probably benign Het
E030025P04Rik C A 11: 109,030,324 (GRCm39) probably benign Het
Ecpas A G 4: 58,872,699 (GRCm39) S201P possibly damaging Het
Foxd4 T C 19: 24,876,973 (GRCm39) H409R probably damaging Het
Fubp3 A G 2: 31,485,343 (GRCm39) probably benign Het
Herc1 A G 9: 66,404,962 (GRCm39) K4511E probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map1lc3b T A 8: 122,322,768 (GRCm39) L82Q probably damaging Het
Mcc A T 18: 44,578,877 (GRCm39) S844T possibly damaging Het
Mccc1 A T 3: 36,044,888 (GRCm39) *85K probably null Het
Memo1 G A 17: 74,552,027 (GRCm39) L90F probably damaging Het
Mfrp A G 9: 44,014,561 (GRCm39) H236R probably benign Het
Mmrn1 G A 6: 60,950,030 (GRCm39) D327N probably damaging Het
Mycbp2 T C 14: 103,392,697 (GRCm39) E3178G probably damaging Het
Pcsk9 A G 4: 106,304,886 (GRCm39) probably benign Het
Pros1 T C 16: 62,719,308 (GRCm39) L110P probably damaging Het
Reck A G 4: 43,913,791 (GRCm39) Y215C probably damaging Het
Ripk4 T C 16: 97,544,766 (GRCm39) D627G probably damaging Het
Rnf144a G T 12: 26,371,009 (GRCm39) H151N probably damaging Het
Slc39a9 T A 12: 80,713,421 (GRCm39) H106Q probably damaging Het
Stab2 A G 10: 86,682,029 (GRCm39) probably benign Het
Sympk T G 7: 18,781,463 (GRCm39) H806Q probably benign Het
Tars2 C A 3: 95,649,383 (GRCm39) probably benign Het
Trappc8 T C 18: 20,970,235 (GRCm39) I918M possibly damaging Het
Ube2j2 T C 4: 156,041,788 (GRCm39) V249A probably damaging Het
Ubqln3 T G 7: 103,790,543 (GRCm39) T516P probably benign Het
Unc13c A G 9: 73,466,238 (GRCm39) S1810P probably benign Het
Vmn1r4 T A 6: 56,933,524 (GRCm39) Y9* probably null Het
Vmn1r89 T A 7: 12,954,131 (GRCm39) M221K probably damaging Het
Vmn2r1 G T 3: 64,012,355 (GRCm39) V739F probably benign Het
Vmn2r25 C T 6: 123,816,723 (GRCm39) R286Q possibly damaging Het
Vmn2r91 T A 17: 18,325,711 (GRCm39) Y110N possibly damaging Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Other mutations in Thap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02559:Thap3 APN 4 152,068,144 (GRCm39) missense probably benign 0.03
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