Incidental Mutation 'R4645:Thap1'
ID 350171
Institutional Source Beutler Lab
Gene Symbol Thap1
Ensembl Gene ENSMUSG00000037214
Gene Name THAP domain containing, apoptosis associated protein 1
Synonyms 4833431A01Rik
MMRRC Submission 041906-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4645 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 26648197-26654179 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26652597 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 135 (T135A)
Ref Sequence ENSEMBL: ENSMUSP00000042464 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036807] [ENSMUST00000130231] [ENSMUST00000131138]
AlphaFold Q8CHW1
Predicted Effect probably damaging
Transcript: ENSMUST00000036807
AA Change: T135A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042464
Gene: ENSMUSG00000037214
AA Change: T135A

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: T112A

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121153
Gene: ENSMUSG00000037214
AA Change: T112A

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
Meta Mutation Damage Score 0.1145 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 98% (53/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,700 (GRCm39) E101G probably damaging Het
Adgrf5 A G 17: 43,748,416 (GRCm39) E29G probably damaging Het
Agfg2 T A 5: 137,682,854 (GRCm39) probably benign Het
Ap4b1 A G 3: 103,728,765 (GRCm39) S468G probably benign Het
AY702103 G T 17: 50,546,941 (GRCm39) noncoding transcript Het
Ccdc14 T C 16: 34,542,110 (GRCm39) L536S probably damaging Het
Ccr9 G T 9: 123,608,658 (GRCm39) M101I probably benign Het
Celsr1 A T 15: 85,800,957 (GRCm39) V2496E probably benign Het
Celsr2 C A 3: 108,303,285 (GRCm39) G2486V probably damaging Het
Cntnap3 A G 13: 64,926,602 (GRCm39) probably null Het
Erlin1 T C 19: 44,057,759 (GRCm39) Y22C probably damaging Het
Fam135b T C 15: 71,334,189 (GRCm39) T1002A probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Glud1 T C 14: 34,033,063 (GRCm39) V70A probably damaging Het
Hdlbp A G 1: 93,349,842 (GRCm39) probably benign Het
Immt T C 6: 71,833,923 (GRCm39) L184P probably damaging Het
Iqsec1 T G 6: 90,644,995 (GRCm39) K983T probably damaging Het
Klhl6 A T 16: 19,765,897 (GRCm39) N568K probably damaging Het
Lbhd1 T G 19: 8,861,452 (GRCm39) probably benign Het
Lrit2 C T 14: 36,794,432 (GRCm39) R499C probably benign Het
Lrp6 T C 6: 134,461,213 (GRCm39) D748G probably damaging Het
Lrriq4 A G 3: 30,704,892 (GRCm39) K292E probably benign Het
Ly96 G T 1: 16,761,940 (GRCm39) E49* probably null Het
Lztr1 C T 16: 17,341,955 (GRCm39) probably benign Het
Mmp12 A G 9: 7,347,515 (GRCm39) M31V probably benign Het
Mok A T 12: 110,774,873 (GRCm39) probably benign Het
Mpi T C 9: 57,458,040 (GRCm39) H54R probably damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Or4c101 T C 2: 88,390,722 (GRCm39) I292T probably damaging Het
Pomt1 G T 2: 32,132,888 (GRCm39) probably benign Het
Ptpn20 G A 14: 33,353,169 (GRCm39) V303I probably benign Het
Pyroxd1 C G 6: 142,300,467 (GRCm39) S199* probably null Het
Shank2 A G 7: 143,964,159 (GRCm39) K799R possibly damaging Het
Sim1 A T 10: 50,860,093 (GRCm39) T652S probably benign Het
Slc8a2 C T 7: 15,868,164 (GRCm39) T132I probably damaging Het
Spaca6 A T 17: 18,056,307 (GRCm39) probably benign Het
Sympk G T 7: 18,777,385 (GRCm39) R545L possibly damaging Het
Tenm4 G T 7: 96,544,949 (GRCm39) G2322W probably damaging Het
Traf3 T C 12: 111,228,400 (GRCm39) V537A probably damaging Het
Ttn T C 2: 76,578,680 (GRCm39) D24071G probably damaging Het
Tysnd1 G T 10: 61,531,962 (GRCm39) V205L probably benign Het
Unc79 T C 12: 103,079,081 (GRCm39) S1749P probably benign Het
Vmn2r50 T A 7: 9,771,162 (GRCm39) *846C probably null Het
Vmn2r74 C T 7: 85,606,317 (GRCm39) S343N probably benign Het
Zfyve28 T G 5: 34,379,787 (GRCm39) probably benign Het
Zmym2 T C 14: 57,165,764 (GRCm39) S696P probably damaging Het
Zscan4e T C 7: 11,041,002 (GRCm39) Y290C possibly damaging Het
Zswim2 G T 2: 83,745,891 (GRCm39) H516N probably benign 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
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 PCR Primer
(F):5'- GTTACTAACCCCACGTGCTTG -3'
(R):5'- AGTCTTGTCCCACTAACACATC -3'

Sequencing Primer
(F):5'- GTCTGTTGCTGTCTAGAAGGAAGACC -3'
(R):5'- CATTTGGTAGGATCACGTAGCCC -3'
Posted On 2015-10-08