Incidental Mutation 'R6447:Thap1'
ID 519231
Institutional Source Beutler Lab
Gene Symbol Thap1
Ensembl Gene ENSMUSG00000037214
Gene Name THAP domain containing, apoptosis associated protein 1
Synonyms 4833431A01Rik
MMRRC Submission 044389-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6447 (G1)
Quality Score 217.468
Status Not validated
Chromosome 8
Chromosomal Location 26648197-26654179 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) CAGCATCTGCTCGGAGCA to CAGCA at 26650884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036807] [ENSMUST00000130231] [ENSMUST00000131138]
AlphaFold Q8CHW1
Predicted Effect probably null
Transcript: ENSMUST00000036807
SMART Domains Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214

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 null
Transcript: ENSMUST00000130231
SMART Domains Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A G 3: 59,772,819 (GRCm39) I108V probably damaging Het
Axl C A 7: 25,469,708 (GRCm39) R476I probably damaging Het
Casr A G 16: 36,315,907 (GRCm39) L721P probably damaging Het
Cntn6 A T 6: 104,836,409 (GRCm39) H925L probably damaging Het
Csmd1 T C 8: 15,960,527 (GRCm39) Y3296C probably damaging Het
Dnah3 G A 7: 119,522,277 (GRCm39) T3972M probably benign Het
Ect2 A G 3: 27,169,633 (GRCm39) F740S probably damaging Het
Eif1ad10 T C 12: 88,216,494 (GRCm39) D126G unknown Het
Exoc1 T A 5: 76,691,364 (GRCm39) D222E probably damaging Het
Hdac2 T C 10: 36,869,812 (GRCm39) V258A possibly damaging Het
Lrrk1 A G 7: 65,952,476 (GRCm39) S487P probably benign Het
Lyplal1 A T 1: 185,821,639 (GRCm39) probably null Het
Nwd2 T A 5: 63,964,898 (GRCm39) I1494N probably benign Het
Pcdhb22 A G 18: 37,653,269 (GRCm39) E579G possibly damaging Het
Samd8 T C 14: 21,842,624 (GRCm39) probably null Het
Sccpdh A G 1: 179,506,453 (GRCm39) *131W probably null Het
Smarcal1 C T 1: 72,625,033 (GRCm39) S60L probably damaging Het
Stau2 A T 1: 16,460,049 (GRCm39) V264E possibly damaging Het
T T C 17: 8,660,463 (GRCm39) I217T possibly damaging Het
Tbc1d1 C T 5: 64,490,836 (GRCm39) L896F probably damaging Het
Tmprss11f T C 5: 86,676,086 (GRCm39) Y365C probably damaging Het
Trdv4 A G 14: 54,312,931 (GRCm39) T102A probably damaging Het
Vmn1r205 G T 13: 22,776,912 (GRCm39) N63K probably damaging Het
Vps13b T C 15: 35,572,272 (GRCm39) V963A probably benign Het
Zswim2 T C 2: 83,745,457 (GRCm39) 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
IGL03098: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
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 PCR Primer
(F):5'- TCAGAGTCTCCTTAGGATGGGG -3'
(R):5'- TCCCATGAACACATTAGCTTCAG -3'

Sequencing Primer
(F):5'- GTAAGGTAGTTCTTTAGTAAGCCGG -3'
(R):5'- ATCAGGAGTTCCGATTCAGC -3'
Posted On 2018-05-24