Incidental Mutation 'R6298:Thap12'
ID 508898
Institutional Source Beutler Lab
Gene Symbol Thap12
Ensembl Gene ENSMUSG00000030753
Gene Name THAP domain containing 12
Synonyms Prkrir, Dap4, 2900052B10Rik
MMRRC Submission 044408-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R6298 (G1)
Quality Score 160.009
Status Validated
Chromosome 7
Chromosomal Location 98703103-98718062 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 98703405 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 6 (A6S)
Ref Sequence ENSEMBL: ENSMUSP00000033009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]
AlphaFold Q9CUX1
Predicted Effect probably damaging
Transcript: ENSMUST00000033009
AA Change: A6S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: A6S

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: A6S

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118403
Gene: ENSMUSG00000030753
AA Change: A6S

DomainStartEndE-ValueType
THAP 3 78 3.21e-9 SMART
DM3 21 78 1.89e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148776
Predicted Effect possibly damaging
Transcript: ENSMUST00000153566
AA Change: A6S

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118736
Gene: ENSMUSG00000030753
AA Change: A6S

DomainStartEndE-ValueType
THAP 3 92 8.38e-22 SMART
DM3 21 91 1.49e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208646
Meta Mutation Damage Score 0.3688 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024P04Rik T A 13: 98,984,466 (GRCm38) R17S probably benign Het
Abtb2 A T 2: 103,709,488 (GRCm38) M733L probably benign Het
Acss3 G A 10: 107,084,856 (GRCm38) P131L probably damaging Het
Adgrv1 T A 13: 81,391,767 (GRCm38) I5678F probably benign Het
Aff1 C T 5: 103,754,720 (GRCm38) L6F possibly damaging Het
AI314180 T G 4: 58,877,157 (GRCm38) T93P probably damaging Het
Ank3 G T 10: 69,850,176 (GRCm38) R273L probably damaging Het
Anks1b G A 10: 90,680,837 (GRCm38) G898D probably damaging Het
Anxa11 C T 14: 25,872,734 (GRCm38) P131S unknown Het
Ap4e1 T A 2: 127,047,115 (GRCm38) M500K probably benign Het
Bag3 T C 7: 128,540,198 (GRCm38) S138P probably damaging Het
Capn9 T C 8: 124,617,454 (GRCm38) V670A probably benign Het
Ccne2 T A 4: 11,199,306 (GRCm38) W236R probably damaging Het
Cdh23 A T 10: 60,426,672 (GRCm38) Y702* probably null Het
Chd1l G A 3: 97,587,167 (GRCm38) A399V probably damaging Het
Cit A T 5: 115,948,065 (GRCm38) E896V probably damaging Het
Cntln T A 4: 85,096,761 (GRCm38) N1096K probably damaging Het
Cntnap5c T C 17: 58,104,752 (GRCm38) C544R probably damaging Het
Csf1 A T 3: 107,748,359 (GRCm38) L452Q possibly damaging Het
Cts8 T A 13: 61,249,223 (GRCm38) K294N possibly damaging Het
D430042O09Rik T C 7: 125,870,697 (GRCm38) V1446A probably benign Het
Dcakd T G 11: 102,999,792 (GRCm38) E56D possibly damaging Het
Dnah17 T C 11: 118,108,161 (GRCm38) I929V probably benign Het
Dnah2 G T 11: 69,491,641 (GRCm38) H1214Q probably benign Het
Dock9 T C 14: 121,634,594 (GRCm38) D536G probably damaging Het
Drc3 A G 11: 60,393,770 (GRCm38) N467S possibly damaging Het
Dysf A G 6: 84,107,136 (GRCm38) probably null Het
Evpl A T 11: 116,230,922 (GRCm38) L378Q probably damaging Het
Fer1l4 A T 2: 156,024,740 (GRCm38) H1520Q probably damaging Het
Fhod1 A T 8: 105,337,148 (GRCm38) probably benign Het
Gabra1 T A 11: 42,182,378 (GRCm38) probably benign Het
Gm10549 C A 18: 33,464,305 (GRCm38) probably benign Het
Gm14137 A G 2: 119,175,091 (GRCm38) T44A possibly damaging Het
Gm9833 T C 3: 10,089,179 (GRCm38) I336T probably damaging Het
Herc2 T C 7: 56,191,265 (GRCm38) M3444T probably benign Het
Igsf5 T C 16: 96,396,448 (GRCm38) S208P possibly damaging Het
Ino80b A G 6: 83,125,085 (GRCm38) L12P possibly damaging Het
Insrr A G 3: 87,812,965 (GRCm38) D970G probably damaging Het
Iqcf4 G A 9: 106,568,675 (GRCm38) A91V probably benign Het
Itga10 A G 3: 96,656,762 (GRCm38) T911A probably benign Het
Klhl30 A T 1: 91,357,364 (GRCm38) D314V probably benign Het
Lpcat1 T C 13: 73,510,955 (GRCm38) V330A possibly damaging Het
Nhlrc3 A T 3: 53,452,523 (GRCm38) D306E possibly damaging Het
Notum T A 11: 120,657,940 (GRCm38) I187F probably damaging Het
Nphp3 T C 9: 104,015,441 (GRCm38) L288P probably damaging Het
Ntrk2 G T 13: 58,871,756 (GRCm38) E394* probably null Het
Olfr420 T A 1: 174,152,182 (GRCm38) V222D probably benign Het
Pbld2 A G 10: 63,039,152 (GRCm38) K63E probably benign Het
Phc2 T C 4: 128,748,189 (GRCm38) M768T possibly damaging Het
Pik3c2g G A 6: 139,626,563 (GRCm38) C249Y probably damaging Het
Plod1 G A 4: 147,916,315 (GRCm38) probably benign Het
Plscr2 A T 9: 92,290,719 (GRCm38) T9S probably benign Het
Pnrc1 T A 4: 33,246,315 (GRCm38) M215L probably benign Het
Prcp G T 7: 92,928,633 (GRCm38) C370F probably damaging Het
Pter A G 2: 12,978,394 (GRCm38) N70S probably damaging Het
Ptprt G T 2: 161,553,859 (GRCm38) H1131Q probably damaging Het
Rasal2 T C 1: 157,411,862 (GRCm38) D8G possibly damaging Het
Rcn2 A C 9: 56,052,925 (GRCm38) K159Q probably benign Het
Rex2 T A 4: 147,057,515 (GRCm38) C153* probably null Het
Rps6ka2 T C 17: 7,170,367 (GRCm38) F8S possibly damaging Het
Samd9l A G 6: 3,375,383 (GRCm38) L626S probably damaging Het
Sptb A G 12: 76,620,654 (GRCm38) probably null Het
Srgap3 A T 6: 112,816,610 (GRCm38) V135D probably damaging Het
Srsf7 T C 17: 80,207,253 (GRCm38) probably benign Het
Tacc2 A G 7: 130,626,525 (GRCm38) T1647A probably benign Het
Tmem33 T A 5: 67,268,551 (GRCm38) L146* probably null Het
Trip13 C A 13: 73,936,259 (GRCm38) E36* probably null Het
Vkorc1l1 T A 5: 129,942,238 (GRCm38) C23S probably damaging Het
Vmn1r20 G A 6: 57,432,127 (GRCm38) R146H probably benign Het
Vmn1r222 T A 13: 23,232,795 (GRCm38) I83F probably benign Het
Vmn2r107 A T 17: 20,355,782 (GRCm38) I125F probably benign Het
Vmn2r116 A G 17: 23,386,762 (GRCm38) D216G probably damaging Het
Vwa3a C T 7: 120,795,651 (GRCm38) T898I probably benign Het
Wdfy3 T C 5: 101,968,946 (GRCm38) D76G probably damaging Het
Wdhd1 T C 14: 47,273,122 (GRCm38) D148G possibly damaging Het
Xylt1 T C 7: 117,656,737 (GRCm38) I844T probably damaging Het
Zfp106 A T 2: 120,522,704 (GRCm38) V1535D probably damaging Het
Zfp385b A T 2: 77,413,979 (GRCm38) L315Q possibly damaging Het
Zfp458 T A 13: 67,256,806 (GRCm38) H523L probably damaging Het
Zfp712 T C 13: 67,041,329 (GRCm38) H378R probably damaging Het
Zic1 T C 9: 91,364,503 (GRCm38) Y172C probably damaging Het
Other mutations in Thap12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00556:Thap12 APN 7 98,716,137 (GRCm38) missense possibly damaging 0.82
IGL01145:Thap12 APN 7 98,712,903 (GRCm38) makesense probably null
IGL01973:Thap12 APN 7 98,716,499 (GRCm38) missense possibly damaging 0.58
IGL02404:Thap12 APN 7 98,710,133 (GRCm38) missense probably damaging 1.00
H8562:Thap12 UTSW 7 98,715,107 (GRCm38) missense probably damaging 0.98
PIT4453001:Thap12 UTSW 7 98,715,038 (GRCm38) missense probably benign 0.00
R0090:Thap12 UTSW 7 98,715,893 (GRCm38) missense probably damaging 1.00
R0254:Thap12 UTSW 7 98,715,281 (GRCm38) missense probably benign 0.03
R1344:Thap12 UTSW 7 98,716,830 (GRCm38) missense probably damaging 0.97
R1384:Thap12 UTSW 7 98,703,438 (GRCm38) missense probably damaging 0.98
R1418:Thap12 UTSW 7 98,716,830 (GRCm38) missense probably damaging 0.97
R1448:Thap12 UTSW 7 98,716,023 (GRCm38) missense probably benign 0.01
R1493:Thap12 UTSW 7 98,715,438 (GRCm38) missense probably benign 0.30
R1906:Thap12 UTSW 7 98,716,740 (GRCm38) missense probably damaging 1.00
R1932:Thap12 UTSW 7 98,716,838 (GRCm38) missense possibly damaging 0.77
R1992:Thap12 UTSW 7 98,716,365 (GRCm38) missense possibly damaging 0.68
R2044:Thap12 UTSW 7 98,716,620 (GRCm38) missense probably damaging 1.00
R2092:Thap12 UTSW 7 98,716,449 (GRCm38) missense possibly damaging 0.70
R2160:Thap12 UTSW 7 98,710,126 (GRCm38) missense probably damaging 0.97
R3850:Thap12 UTSW 7 98,716,663 (GRCm38) missense probably damaging 1.00
R4086:Thap12 UTSW 7 98,716,494 (GRCm38) missense possibly damaging 0.94
R4162:Thap12 UTSW 7 98,710,078 (GRCm38) intron probably benign
R4554:Thap12 UTSW 7 98,715,845 (GRCm38) missense probably benign 0.00
R4555:Thap12 UTSW 7 98,715,845 (GRCm38) missense probably benign 0.00
R4556:Thap12 UTSW 7 98,715,845 (GRCm38) missense probably benign 0.00
R4557:Thap12 UTSW 7 98,715,845 (GRCm38) missense probably benign 0.00
R4659:Thap12 UTSW 7 98,710,091 (GRCm38) intron probably benign
R4734:Thap12 UTSW 7 98,715,955 (GRCm38) nonsense probably null
R4734:Thap12 UTSW 7 98,715,954 (GRCm38) missense probably damaging 0.98
R5794:Thap12 UTSW 7 98,716,393 (GRCm38) missense probably benign 0.11
R5994:Thap12 UTSW 7 98,716,030 (GRCm38) nonsense probably null
R6515:Thap12 UTSW 7 98,707,095 (GRCm38) missense probably damaging 0.97
R6624:Thap12 UTSW 7 98,715,586 (GRCm38) nonsense probably null
R6625:Thap12 UTSW 7 98,716,070 (GRCm38) missense probably benign 0.00
R6965:Thap12 UTSW 7 98,715,462 (GRCm38) missense probably damaging 1.00
R7560:Thap12 UTSW 7 98,710,231 (GRCm38) missense probably damaging 0.99
R8182:Thap12 UTSW 7 98,716,377 (GRCm38) missense probably damaging 1.00
R8713:Thap12 UTSW 7 98,707,076 (GRCm38) missense probably benign 0.30
R8897:Thap12 UTSW 7 98,715,327 (GRCm38) missense probably benign 0.38
R9099:Thap12 UTSW 7 98,715,393 (GRCm38) missense probably damaging 1.00
R9260:Thap12 UTSW 7 98,707,073 (GRCm38) nonsense probably null
R9339:Thap12 UTSW 7 98,715,116 (GRCm38) missense possibly damaging 0.95
R9467:Thap12 UTSW 7 98,710,141 (GRCm38) missense probably damaging 0.99
R9644:Thap12 UTSW 7 98,715,288 (GRCm38) missense probably damaging 0.97
R9789:Thap12 UTSW 7 98,703,385 (GRCm38) start gained probably benign
Predicted Primers PCR Primer
(F):5'- GCATTGAGACTACGCAGCTG -3'
(R):5'- TTGACAGCTAAGGAACCGCG -3'

Sequencing Primer
(F):5'- ACCCTCTCGAGTGCGCATG -3'
(R):5'- GCTAAGCGCCCACTTCATC -3'
Posted On 2018-04-02