Incidental Mutation 'IGL03098:Thap1'
ID 452978
Institutional Source Beutler Lab
Gene Symbol Thap1
Ensembl Gene ENSMUSG00000037214
Gene Name THAP domain containing, apoptosis associated protein 1
Synonyms 4833431A01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03098 (G1)
Quality Score 93
Status Not validated
Chromosome 8
Chromosomal Location 26648197-26654179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 26652498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Alanine at position 79 (P79A)
Ref Sequence ENSEMBL: ENSMUSP00000121153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036807] [ENSMUST00000130231] [ENSMUST00000131138]
AlphaFold Q8CHW1
Predicted Effect probably benign
Transcript: ENSMUST00000036807
AA Change: P102A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214
AA Change: P102A

DomainStartEndE-ValueType
THAP 3 86 6.6e-20 SMART
DM3 22 86 3.01e-16 SMART
low complexity region 93 108 N/A INTRINSIC
coiled coil region 137 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127536
Predicted Effect probably benign
Transcript: ENSMUST00000130231
AA Change: P79A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214
AA Change: P79A

DomainStartEndE-ValueType
DM3 2 63 1.13e-11 SMART
THAP 2 63 6.77e-8 SMART
low complexity region 70 85 N/A INTRINSIC
SCOP:d1lxa__ 121 173 8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131138
SMART Domains Protein: ENSMUSP00000115452
Gene: ENSMUSG00000109850

DomainStartEndE-ValueType
transmembrane domain 54 73 N/A INTRINSIC
SCOP:d1fbva4 85 135 1e-6 SMART
Blast:RING 115 135 3e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209926
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 92% (44/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a THAP domain, a conserved DNA-binding domain. This protein colocalizes with the apoptosis response protein PAWR/PAR-4 in promyelocytic leukemia (PML) nuclear bodies, and functions as a proapoptotic factor that links PAWR to PML nuclear bodies. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous KO is embryonic lethal. Heterozygous KO affects motor control and the morphology of the cerebellum dentate nucleus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Abca15 T C 7: 119,987,499 (GRCm39) probably null Het
Adcy4 T C 14: 56,019,038 (GRCm39) Q173R probably null Het
Arhgef19 A G 4: 140,974,879 (GRCm39) D113G possibly damaging Het
Btbd6 A G 12: 112,942,038 (GRCm39) E501G probably damaging Het
Btnl2 T C 17: 34,584,190 (GRCm39) V371A probably benign Het
Cd84 G T 1: 171,700,267 (GRCm39) R128L possibly damaging Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Dsg3 A T 18: 20,643,422 (GRCm39) probably benign Het
Efnb2 A T 8: 8,713,420 (GRCm39) probably benign Het
Fam24b T C 7: 130,927,977 (GRCm39) S71G probably benign Het
Flacc1 G T 1: 58,730,908 (GRCm39) H49Q probably benign Het
Hgd G A 16: 37,436,607 (GRCm39) C180Y probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hsd17b7 C T 1: 169,780,649 (GRCm39) E320K probably damaging Het
Kcmf1 A T 6: 72,826,567 (GRCm39) M1K probably null Het
Letm2 T A 8: 26,071,745 (GRCm39) T386S possibly damaging Het
Lvrn A T 18: 47,014,477 (GRCm39) probably null Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nid2 G A 14: 19,856,006 (GRCm39) D1244N probably damaging Het
Nvl G T 1: 180,921,471 (GRCm39) Q843K probably benign Het
Obi1 T C 14: 104,716,253 (GRCm39) I707V possibly damaging Het
Or1e30 T G 11: 73,678,529 (GRCm39) I255S probably benign Het
Pi4ka A T 16: 17,143,891 (GRCm39) I726N probably damaging Het
Rab25 A T 3: 88,449,567 (GRCm39) C209S probably damaging Het
Rgs6 A T 12: 83,032,150 (GRCm39) I21F probably damaging Het
Rnf10 T C 5: 115,410,426 (GRCm39) D16G probably damaging Het
Rnmt G A 18: 68,439,073 (GRCm39) V61M probably damaging Het
Rrs1 GCTC GC 1: 9,616,328 (GRCm39) probably null Het
Scd4 A T 19: 44,321,931 (GRCm39) M1L possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sptb A G 12: 76,668,273 (GRCm39) I608T probably damaging Het
Sstr5 A G 17: 25,710,251 (GRCm39) V326A probably benign Het
Sugct T C 13: 17,846,321 (GRCm39) D62G probably damaging Het
Thada C G 17: 84,641,569 (GRCm39) D1306H possibly damaging Het
Tra2a G A 6: 49,225,969 (GRCm39) S157L probably damaging Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Trim9 A G 12: 70,327,467 (GRCm39) I390T possibly damaging Het
Usp24 T C 4: 106,228,230 (GRCm39) V765A probably benign Het
Wdr90 C A 17: 26,078,961 (GRCm39) probably benign Het
Ybey A T 10: 76,304,078 (GRCm39) C41* probably null Het
Other mutations in Thap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Thap1 APN 8 26,652,759 (GRCm39) missense probably benign 0.21
IGL00990:Thap1 APN 8 26,650,910 (GRCm39) missense possibly damaging 0.74
IGL02491:Thap1 APN 8 26,650,885 (GRCm39) missense probably damaging 0.97
IGL03097:Thap1 UTSW 8 26,652,498 (GRCm39) missense probably benign
R0755:Thap1 UTSW 8 26,648,501 (GRCm39) missense probably damaging 1.00
R0927:Thap1 UTSW 8 26,652,733 (GRCm39) missense probably benign 0.00
R4645:Thap1 UTSW 8 26,652,597 (GRCm39) missense probably damaging 1.00
R4661:Thap1 UTSW 8 26,650,874 (GRCm39) missense probably benign 0.04
R4803:Thap1 UTSW 8 26,650,882 (GRCm39) frame shift probably null
R4978:Thap1 UTSW 8 26,650,882 (GRCm39) frame shift probably null
R6424:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R6447:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R6503:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R6995:Thap1 UTSW 8 26,652,679 (GRCm39) missense probably damaging 1.00
R7169:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R7923:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R8209:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R8419:Thap1 UTSW 8 26,648,502 (GRCm39) nonsense probably null
R8519:Thap1 UTSW 8 26,650,925 (GRCm39) missense probably damaging 0.97
R8732:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R8832:Thap1 UTSW 8 26,648,261 (GRCm39) intron probably benign
R8863:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9205:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9271:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9319:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9332:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9332:Thap1 UTSW 8 26,650,882 (GRCm39) frame shift probably null
R9380:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9414:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9430:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9441:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9460:Thap1 UTSW 8 26,650,884 (GRCm39) frame shift probably null
R9739:Thap1 UTSW 8 26,650,990 (GRCm39) missense probably benign 0.32
Predicted Primers
Posted On 2017-01-24