Incidental Mutation 'R5794:Thap12'
ID 447121
Institutional Source Beutler Lab
Gene Symbol Thap12
Ensembl Gene ENSMUSG00000030753
Gene Name THAP domain containing 12
Synonyms 2900052B10Rik, Dap4, Prkrir
MMRRC Submission 043385-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R5794 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 98352310-98367269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98365600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 589 (D589E)
Ref Sequence ENSEMBL: ENSMUSP00000033009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]
AlphaFold Q9CUX1
Predicted Effect probably benign
Transcript: ENSMUST00000033009
AA Change: D589E

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: D589E

DomainStartEndE-ValueType
THAP 3 92 8.38e-22 SMART
DM3 21 91 1.49e-20 SMART
Pfam:DUF4371 112 338 1.9e-22 PFAM
low complexity region 433 445 N/A INTRINSIC
Pfam:Dimer_Tnp_hAT 631 726 6.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126356
SMART Domains Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753

DomainStartEndE-ValueType
THAP 3 78 3.21e-9 SMART
DM3 21 78 1.89e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146473
Predicted Effect probably benign
Transcript: ENSMUST00000153566
SMART Domains Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753

DomainStartEndE-ValueType
THAP 3 92 8.38e-22 SMART
DM3 21 91 1.49e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208543
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aftph T C 11: 20,676,955 (GRCm39) probably null Het
Ank2 T C 3: 126,723,669 (GRCm39) N923S probably benign Het
Ano6 A T 15: 95,792,405 (GRCm39) T76S probably benign Het
Carmil1 G T 13: 24,276,533 (GRCm39) N204K probably damaging Het
Cep126 T G 9: 8,103,440 (GRCm39) N190T possibly damaging Het
Clasrp A T 7: 19,325,034 (GRCm39) D198E probably damaging Het
Cma1 T C 14: 56,181,977 (GRCm39) T18A probably benign Het
Ece1 A G 4: 137,683,844 (GRCm39) I565M probably damaging Het
Etl4 T A 2: 20,811,323 (GRCm39) F1135L probably damaging Het
Fbxw20 T C 9: 109,052,358 (GRCm39) N325S probably damaging Het
Fbxw20 A T 9: 109,062,668 (GRCm39) C53S possibly damaging Het
Gnb2 T C 5: 137,526,961 (GRCm39) D203G probably benign Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Hoxd9 T A 2: 74,529,617 (GRCm39) F291Y probably damaging Het
Igf2r T C 17: 12,928,332 (GRCm39) S1004G probably benign Het
Irgm1 T C 11: 48,757,064 (GRCm39) Y249C probably damaging Het
Kcnh3 A C 15: 99,130,855 (GRCm39) I491L probably benign Het
Kctd10 G A 5: 114,505,398 (GRCm39) R199W probably damaging Het
Klk1b4 A T 7: 43,859,069 (GRCm39) N29I probably damaging Het
Klrc1 C T 6: 129,652,317 (GRCm39) R188Q probably damaging Het
Krt32 C A 11: 99,975,812 (GRCm39) C275F probably damaging Het
Krt73 T A 15: 101,703,264 (GRCm39) T449S probably benign Het
Napepld T A 5: 21,888,429 (GRCm39) S7C possibly damaging Het
Nfia G T 4: 97,671,838 (GRCm39) V183L possibly damaging Het
Or5g27 T C 2: 85,409,685 (GRCm39) V34A probably benign Het
Or6c3 A C 10: 129,309,295 (GRCm39) I245L possibly damaging Het
Psma3 A G 12: 71,037,271 (GRCm39) T111A probably benign Het
Psmd11 T A 11: 80,362,318 (GRCm39) D125E probably benign Het
Rabgap1 T A 2: 37,392,914 (GRCm39) D523E probably benign Het
Rttn G T 18: 89,013,693 (GRCm39) R454L probably benign Het
Serpine2 T C 1: 79,799,156 (GRCm39) N33D probably benign Het
Six4 A T 12: 73,159,124 (GRCm39) S271T possibly damaging Het
Smoc2 T A 17: 14,589,310 (GRCm39) C260S possibly damaging Het
Snai2 A T 16: 14,524,590 (GRCm39) Y32F probably benign Het
Tapt1 C T 5: 44,334,476 (GRCm39) G505D probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Vmn2r116 T C 17: 23,604,942 (GRCm39) I85T probably damaging Het
Zfp592 G T 7: 80,674,781 (GRCm39) V582L probably benign Het
Zfp827 T C 8: 79,797,071 (GRCm39) W386R probably damaging Het
Other mutations in Thap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Thap12 APN 7 98,365,344 (GRCm39) missense possibly damaging 0.82
IGL01145:Thap12 APN 7 98,362,110 (GRCm39) makesense probably null
IGL01973:Thap12 APN 7 98,365,706 (GRCm39) missense possibly damaging 0.58
IGL02404:Thap12 APN 7 98,359,340 (GRCm39) missense probably damaging 1.00
H8562:Thap12 UTSW 7 98,364,314 (GRCm39) missense probably damaging 0.98
PIT4453001:Thap12 UTSW 7 98,364,245 (GRCm39) missense probably benign 0.00
R0090:Thap12 UTSW 7 98,365,100 (GRCm39) missense probably damaging 1.00
R0254:Thap12 UTSW 7 98,364,488 (GRCm39) missense probably benign 0.03
R1344:Thap12 UTSW 7 98,366,037 (GRCm39) missense probably damaging 0.97
R1384:Thap12 UTSW 7 98,352,645 (GRCm39) missense probably damaging 0.98
R1418:Thap12 UTSW 7 98,366,037 (GRCm39) missense probably damaging 0.97
R1448:Thap12 UTSW 7 98,365,230 (GRCm39) missense probably benign 0.01
R1493:Thap12 UTSW 7 98,364,645 (GRCm39) missense probably benign 0.30
R1906:Thap12 UTSW 7 98,365,947 (GRCm39) missense probably damaging 1.00
R1932:Thap12 UTSW 7 98,366,045 (GRCm39) missense possibly damaging 0.77
R1992:Thap12 UTSW 7 98,365,572 (GRCm39) missense possibly damaging 0.68
R2044:Thap12 UTSW 7 98,365,827 (GRCm39) missense probably damaging 1.00
R2092:Thap12 UTSW 7 98,365,656 (GRCm39) missense possibly damaging 0.70
R2160:Thap12 UTSW 7 98,359,333 (GRCm39) missense probably damaging 0.97
R3850:Thap12 UTSW 7 98,365,870 (GRCm39) missense probably damaging 1.00
R4086:Thap12 UTSW 7 98,365,701 (GRCm39) missense possibly damaging 0.94
R4162:Thap12 UTSW 7 98,359,285 (GRCm39) intron probably benign
R4554:Thap12 UTSW 7 98,365,052 (GRCm39) missense probably benign 0.00
R4555:Thap12 UTSW 7 98,365,052 (GRCm39) missense probably benign 0.00
R4556:Thap12 UTSW 7 98,365,052 (GRCm39) missense probably benign 0.00
R4557:Thap12 UTSW 7 98,365,052 (GRCm39) missense probably benign 0.00
R4659:Thap12 UTSW 7 98,359,298 (GRCm39) intron probably benign
R4734:Thap12 UTSW 7 98,365,162 (GRCm39) nonsense probably null
R4734:Thap12 UTSW 7 98,365,161 (GRCm39) missense probably damaging 0.98
R5994:Thap12 UTSW 7 98,365,237 (GRCm39) nonsense probably null
R6298:Thap12 UTSW 7 98,352,612 (GRCm39) missense probably damaging 1.00
R6515:Thap12 UTSW 7 98,356,302 (GRCm39) missense probably damaging 0.97
R6624:Thap12 UTSW 7 98,364,793 (GRCm39) nonsense probably null
R6625:Thap12 UTSW 7 98,365,277 (GRCm39) missense probably benign 0.00
R6965:Thap12 UTSW 7 98,364,669 (GRCm39) missense probably damaging 1.00
R7560:Thap12 UTSW 7 98,359,438 (GRCm39) missense probably damaging 0.99
R8182:Thap12 UTSW 7 98,365,584 (GRCm39) missense probably damaging 1.00
R8713:Thap12 UTSW 7 98,356,283 (GRCm39) missense probably benign 0.30
R8897:Thap12 UTSW 7 98,364,534 (GRCm39) missense probably benign 0.38
R9099:Thap12 UTSW 7 98,364,600 (GRCm39) missense probably damaging 1.00
R9260:Thap12 UTSW 7 98,356,280 (GRCm39) nonsense probably null
R9339:Thap12 UTSW 7 98,364,323 (GRCm39) missense possibly damaging 0.95
R9467:Thap12 UTSW 7 98,359,348 (GRCm39) missense probably damaging 0.99
R9644:Thap12 UTSW 7 98,364,495 (GRCm39) missense probably damaging 0.97
R9789:Thap12 UTSW 7 98,352,592 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGTTTTGGTTTGAGGAAGCCAC -3'
(R):5'- AGGGCTTCATAAATGGTGGAC -3'

Sequencing Primer
(F):5'- TGGTTTGAGGAAGCCACAAATTTAGC -3'
(R):5'- GACGGGAGCTCGATATCTTTCC -3'
Posted On 2016-12-15