Incidental Mutation 'R2190:Thap4'
ID 237999
Institutional Source Beutler Lab
Gene Symbol Thap4
Ensembl Gene ENSMUSG00000026279
Gene Name THAP domain containing 4
Synonyms 2010320B01Rik
MMRRC Submission 040192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2190 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93633113-93682560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93678381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 135 (P135Q)
Ref Sequence ENSEMBL: ENSMUSP00000140761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027502] [ENSMUST00000112905] [ENSMUST00000149436] [ENSMUST00000185482] [ENSMUST00000187824] [ENSMUST00000190116]
AlphaFold Q6P3Z3
Predicted Effect probably benign
Transcript: ENSMUST00000027502
SMART Domains Protein: ENSMUSP00000027502
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 39 335 4.4e-104 PFAM
low complexity region 375 393 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112905
AA Change: P135Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
AA Change: P135Q

DomainStartEndE-ValueType
THAP 3 91 4.74e-21 SMART
DM3 24 90 2.99e-11 SMART
internal_repeat_1 197 254 9.38e-12 PROSPERO
low complexity region 280 294 N/A INTRINSIC
internal_repeat_1 301 358 9.38e-12 PROSPERO
low complexity region 377 388 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
Pfam:DUF1794 413 566 1e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135762
Predicted Effect probably benign
Transcript: ENSMUST00000149436
SMART Domains Protein: ENSMUSP00000123383
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 42 150 6.9e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185482
SMART Domains Protein: ENSMUSP00000140758
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 36 137 2.3e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187824
SMART Domains Protein: ENSMUSP00000139541
Gene: ENSMUSG00000026280

DomainStartEndE-ValueType
Pfam:Peptidase_C54 61 121 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000190116
AA Change: P135Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
AA Change: P135Q

DomainStartEndE-ValueType
THAP 3 91 4.74e-21 SMART
DM3 24 90 2.99e-11 SMART
internal_repeat_1 197 254 9.38e-12 PROSPERO
low complexity region 280 294 N/A INTRINSIC
internal_repeat_1 301 358 9.38e-12 PROSPERO
low complexity region 377 388 N/A INTRINSIC
low complexity region 390 404 N/A INTRINSIC
Pfam:DUF1794 412 567 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189173
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189152
Predicted Effect probably benign
Transcript: ENSMUST00000189472
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A T 8: 111,766,785 (GRCm39) T56S probably damaging Het
Acbd6 A T 1: 155,500,652 (GRCm39) H204L probably damaging Het
Acnat2 T A 4: 49,383,551 (GRCm39) M1L probably benign Het
Adgrg5 A T 8: 95,660,579 (GRCm39) I73F probably damaging Het
Ankrd52 A G 10: 128,219,487 (GRCm39) T474A probably benign Het
Arid3a A G 10: 79,782,365 (GRCm39) D252G possibly damaging Het
Aspg G T 12: 112,091,322 (GRCm39) E501D probably damaging Het
Bicral A G 17: 47,136,049 (GRCm39) I387T probably damaging Het
Bub1 T C 2: 127,652,645 (GRCm39) N574S probably benign Het
Casr G A 16: 36,315,778 (GRCm39) T764M probably damaging Het
Ccdc60 A G 5: 116,295,639 (GRCm39) S259P probably damaging Het
Ccne2 A T 4: 11,197,241 (GRCm39) N181I probably benign Het
Chd4 A G 6: 125,091,260 (GRCm39) D89G probably benign Het
Col25a1 C T 3: 130,378,364 (GRCm39) P606S probably damaging Het
Dcc A G 18: 71,680,491 (GRCm39) S582P possibly damaging Het
Dlg4 A G 11: 69,933,430 (GRCm39) D619G probably damaging Het
Elavl2 C T 4: 91,152,331 (GRCm39) V129I probably benign Het
Epha3 A G 16: 63,366,552 (GRCm39) I965T probably benign Het
Fbxw16 G A 9: 109,265,739 (GRCm39) S360L probably damaging Het
Fgf14 T C 14: 124,221,330 (GRCm39) Y158C probably damaging Het
Gm44511 A G 6: 128,803,163 (GRCm39) I16T possibly damaging Het
Has2 C A 15: 56,531,183 (GRCm39) V511F probably benign Het
Heatr5b G A 17: 79,109,185 (GRCm39) R1025C probably damaging Het
Hsd17b12 T C 2: 93,864,408 (GRCm39) Y233C probably benign Het
Il36rn A T 2: 24,170,831 (GRCm39) I43F probably damaging Het
Inpp5b T A 4: 124,678,988 (GRCm39) I465N probably damaging Het
Irak2 T A 6: 113,663,904 (GRCm39) N423K probably damaging Het
Itga2 C A 13: 115,007,141 (GRCm39) V396L probably benign Het
Itprid1 A G 6: 55,874,685 (GRCm39) T212A possibly damaging Het
Lipo2 A T 19: 33,725,969 (GRCm39) N94K probably damaging Het
Lrrc37a T C 11: 103,390,869 (GRCm39) T1519A possibly damaging Het
Macf1 A G 4: 123,353,005 (GRCm39) V1558A probably benign Het
Mocos C A 18: 24,797,114 (GRCm39) H91Q probably benign Het
Myh14 G A 7: 44,310,487 (GRCm39) T132I probably damaging Het
Nlrp2 A T 7: 5,322,237 (GRCm39) D803E possibly damaging Het
Ntsr2 T A 12: 16,704,018 (GRCm39) I173N probably damaging Het
Or14c43 A G 7: 86,115,573 (GRCm39) Y318C possibly damaging Het
Or5b105 T G 19: 13,079,857 (GRCm39) K270N probably damaging Het
Pitx3 T C 19: 46,125,486 (GRCm39) Y86C probably damaging Het
Pkp1 T C 1: 135,807,709 (GRCm39) S520G probably benign Het
Pygo1 C T 9: 72,852,529 (GRCm39) Q239* probably null Het
Rab13 A G 3: 90,130,851 (GRCm39) E68G probably damaging Het
Rfx7 A G 9: 72,525,201 (GRCm39) E797G probably benign Het
Slc5a1 T C 5: 33,261,937 (GRCm39) probably null Het
Slco1c1 A G 6: 141,508,893 (GRCm39) T518A probably benign Het
Spint1 A G 2: 119,068,661 (GRCm39) I132V probably benign Het
Stard9 T A 2: 120,544,601 (GRCm39) I4514N probably benign Het
Tenm3 T G 8: 48,848,579 (GRCm39) S87R probably damaging Het
Tmed9 A G 13: 55,741,156 (GRCm39) E57G probably benign Het
Tnrc18 C T 5: 142,761,644 (GRCm39) V594I unknown Het
Trmt1 A T 8: 85,416,470 (GRCm39) K64* probably null Het
Usf2 A G 7: 30,654,606 (GRCm39) V198A probably damaging Het
Usp14 A T 18: 10,007,835 (GRCm39) C168S probably damaging Het
Vav3 C A 3: 109,470,130 (GRCm39) T525K probably damaging Het
Vmn1r52 A G 6: 90,156,151 (GRCm39) I152V probably benign Het
Vmn2r81 A G 10: 79,104,085 (GRCm39) D236G possibly damaging Het
Wdr19 G A 5: 65,401,509 (GRCm39) V975I possibly damaging Het
Other mutations in Thap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1839:Thap4 UTSW 1 93,678,009 (GRCm39) missense probably benign 0.11
R2234:Thap4 UTSW 1 93,652,934 (GRCm39) missense probably benign 0.14
R2235:Thap4 UTSW 1 93,652,934 (GRCm39) missense probably benign 0.14
R4502:Thap4 UTSW 1 93,678,709 (GRCm39) critical splice acceptor site probably null
R4673:Thap4 UTSW 1 93,642,588 (GRCm39) intron probably benign
R5011:Thap4 UTSW 1 93,677,598 (GRCm39) missense probably damaging 0.99
R5647:Thap4 UTSW 1 93,642,665 (GRCm39) missense probably damaging 0.99
R5690:Thap4 UTSW 1 93,644,352 (GRCm39) critical splice donor site probably null
R6375:Thap4 UTSW 1 93,652,878 (GRCm39) critical splice donor site probably null
R6899:Thap4 UTSW 1 93,678,691 (GRCm39) missense probably damaging 1.00
R7431:Thap4 UTSW 1 93,678,223 (GRCm39) missense probably benign 0.28
R8910:Thap4 UTSW 1 93,642,666 (GRCm39) missense probably damaging 0.99
R9457:Thap4 UTSW 1 93,678,028 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAATGCCGCTCTTGTCTGC -3'
(R):5'- AGACAGCTTCTCCAAAAGACTGG -3'

Sequencing Primer
(F):5'- AAGAGGCCTTCTGGTGGTCAG -3'
(R):5'- ATCGCCTGCTGAAGCCCAC -3'
Posted On 2014-10-02