Incidental Mutation 'R6515:Thap12'
ID 520601
Institutional Source Beutler Lab
Gene Symbol Thap12
Ensembl Gene ENSMUSG00000030753
Gene Name THAP domain containing 12
Synonyms 2900052B10Rik, Dap4, Prkrir
MMRRC Submission 044642-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6515 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98352310-98367269 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 98356302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 63 (E63G)
Ref Sequence ENSEMBL: ENSMUSP00000118403 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]
AlphaFold Q9CUX1
Predicted Effect probably damaging
Transcript: ENSMUST00000033009
AA Change: E63G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: E63G

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 damaging
Transcript: ENSMUST00000126356
AA Change: E63G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753
AA Change: E63G

DomainStartEndE-ValueType
THAP 3 78 3.21e-9 SMART
DM3 21 78 1.89e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148776
Predicted Effect possibly damaging
Transcript: ENSMUST00000153566
AA Change: E63G

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: E63G

DomainStartEndE-ValueType
THAP 3 92 8.38e-22 SMART
DM3 21 91 1.49e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208646
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,592,044 (GRCm39) D102G probably damaging Het
Apcdd1 T A 18: 63,084,910 (GRCm39) M369K probably damaging Het
Atp4a A G 7: 30,411,903 (GRCm39) K46R possibly damaging Het
Bcl9l A G 9: 44,419,171 (GRCm39) probably null Het
Cabyr A G 18: 12,887,340 (GRCm39) S324G possibly damaging Het
Casp8ap2 A G 4: 32,646,423 (GRCm39) D1832G possibly damaging Het
Cdk4 C T 10: 126,902,052 (GRCm39) P256S probably null Het
Cnot6l C A 5: 96,309,537 (GRCm39) probably benign Het
Cox17 C A 16: 38,167,557 (GRCm39) A32E probably damaging Het
Cyp27b1 G T 10: 126,884,119 (GRCm39) probably benign Het
Enpp2 T A 15: 54,723,489 (GRCm39) N628I possibly damaging Het
Ggcx T C 6: 72,402,815 (GRCm39) C258R probably benign Het
Hbb-bh1 T C 7: 103,491,974 (GRCm39) D80G probably damaging Het
Hoxb5 A T 11: 96,195,908 (GRCm39) D252V probably damaging Het
Hspa4l A G 3: 40,736,014 (GRCm39) D545G possibly damaging Het
Hspa5 T A 2: 34,662,416 (GRCm39) V28E probably benign Het
Ifit1bl1 T C 19: 34,571,899 (GRCm39) Y186C probably damaging Het
Itpr3 C T 17: 27,310,344 (GRCm39) A403V probably benign Het
Kif19b T C 5: 140,480,779 (GRCm39) S970P possibly damaging Het
Klra17 A T 6: 129,808,462 (GRCm39) I257N probably damaging Het
Megf6 C T 4: 154,343,376 (GRCm39) H662Y possibly damaging Het
Mfsd6 T C 1: 52,700,120 (GRCm39) K676R probably damaging Het
Nutm1 A C 2: 112,086,665 (GRCm39) L22R probably benign Het
Oas1f T C 5: 120,986,497 (GRCm39) V150A probably damaging Het
Or10ak13 T C 4: 118,639,467 (GRCm39) Y105C probably benign Het
Or4f62 T C 2: 111,986,710 (GRCm39) L138P probably benign Het
Pik3ap1 A G 19: 41,364,585 (GRCm39) Y45H probably benign Het
Pnlip T C 19: 58,661,547 (GRCm39) S79P probably damaging Het
Ppfia3 T C 7: 44,989,657 (GRCm39) D1185G possibly damaging Het
Pphln1-ps1 G A 16: 13,494,820 (GRCm39) probably benign Het
Rbm34 A T 8: 127,688,682 (GRCm39) S217T possibly damaging Het
Rbm44 T C 1: 91,092,860 (GRCm39) I820T probably damaging Het
Rnf151 A T 17: 24,935,391 (GRCm39) L180Q probably benign Het
Sec24d G A 3: 123,136,719 (GRCm39) R484Q possibly damaging Het
Spop C A 11: 95,376,761 (GRCm39) D271E possibly damaging Het
Svep1 C T 4: 58,088,280 (GRCm39) G1723D probably damaging Het
Tenm3 G C 8: 48,870,257 (GRCm39) Q179E probably benign Het
Thsd7a T A 6: 12,501,085 (GRCm39) T441S possibly damaging Het
Tle6 G A 10: 81,427,810 (GRCm39) H482Y probably damaging Het
Tmem184a A G 5: 139,794,193 (GRCm39) F177L probably benign Het
Uggt2 A T 14: 119,315,131 (GRCm39) S313T possibly damaging Het
Unc13a A G 8: 72,100,584 (GRCm39) I1068T probably benign Het
Xirp1 T C 9: 119,845,983 (GRCm39) R967G probably benign 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
R5794:Thap12 UTSW 7 98,365,600 (GRCm39) missense probably benign 0.11
R5994:Thap12 UTSW 7 98,365,237 (GRCm39) nonsense probably null
R6298:Thap12 UTSW 7 98,352,612 (GRCm39) missense probably damaging 1.00
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'- GACAGCAGTGTGTCTGTTTG -3'
(R):5'- GGATGGGGCATCAGGAACT -3'

Sequencing Primer
(F):5'- CCTCCCAAGTACTGAGAGTATAGGTG -3'
(R):5'- CAGGAACTGAGGGTTTTAAAAA -3'
Posted On 2018-06-06