Incidental Mutation 'R6624:Thap12'
ID 524663
Institutional Source Beutler Lab
Gene Symbol Thap12
Ensembl Gene ENSMUSG00000030753
Gene Name THAP domain containing 12
Synonyms 2900052B10Rik, Dap4, Prkrir
MMRRC Submission 044746-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6624 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 98352310-98367269 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to G at 98364793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 320 (Y320*)
Ref Sequence ENSEMBL: ENSMUSP00000033009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033009] [ENSMUST00000126356] [ENSMUST00000153566]
AlphaFold Q9CUX1
Predicted Effect probably null
Transcript: ENSMUST00000033009
AA Change: Y320*
SMART Domains Protein: ENSMUSP00000033009
Gene: ENSMUSG00000030753
AA Change: Y320*

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,740,298 (GRCm39) E852K possibly damaging Het
Cib3 T A 8: 72,959,582 (GRCm39) I96F probably damaging Het
Ckap5 C T 2: 91,407,996 (GRCm39) P841S probably benign Het
Col25a1 A G 3: 130,360,100 (GRCm39) probably null Het
Col27a1 A T 4: 63,143,248 (GRCm39) H312L probably benign Het
Cyp2j7 A G 4: 96,115,855 (GRCm39) I197T probably damaging Het
Cyp4f40 C T 17: 32,890,154 (GRCm39) R275C possibly damaging Het
Eif3l T C 15: 78,974,129 (GRCm39) S515P probably damaging Het
Enpp1 A T 10: 24,545,653 (GRCm39) Y262* probably null Het
Ergic3 T A 2: 155,858,818 (GRCm39) M286K probably damaging Het
Ern2 C T 7: 121,777,006 (GRCm39) A305T probably benign Het
Fam187b A G 7: 30,676,612 (GRCm39) I40M probably benign Het
Fcho1 T G 8: 72,162,015 (GRCm39) K798T probably damaging Het
Iah1 C T 12: 21,369,785 (GRCm39) Q100* probably null Het
Jak2 T C 19: 29,259,989 (GRCm39) I296T probably damaging Het
Lats2 A G 14: 57,931,769 (GRCm39) probably null Het
Lrriq4 A T 3: 30,704,929 (GRCm39) H319L probably benign Het
Man2b1 A G 8: 85,823,482 (GRCm39) N939D probably benign Het
Meis1 T C 11: 18,966,215 (GRCm39) T53A probably benign Het
Nadsyn1 C T 7: 143,359,710 (GRCm39) E421K probably benign Het
Or10a3m T C 7: 108,312,743 (GRCm39) I49T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pmfbp1 T C 8: 110,256,822 (GRCm39) S509P possibly damaging Het
Pou4f3 A T 18: 42,528,707 (GRCm39) I217F probably damaging Het
Ppara C A 15: 85,675,237 (GRCm39) N235K probably benign Het
Prrg2 T C 7: 44,709,410 (GRCm39) Y73C probably damaging Het
Sdccag8 T A 1: 176,702,378 (GRCm39) probably null Het
Trpm6 A G 19: 18,773,803 (GRCm39) probably null Het
Trpm6 T A 19: 18,866,384 (GRCm39) C1978S probably damaging Het
Usp33 A G 3: 152,087,435 (GRCm39) Y708C probably damaging Het
Wdr3 G A 3: 100,051,642 (GRCm39) T669M probably damaging Het
Zdbf2 T C 1: 63,343,073 (GRCm39) I484T possibly 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
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
R6515:Thap12 UTSW 7 98,356,302 (GRCm39) missense probably damaging 0.97
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'- GACGATGTGGTGGACATAGC -3'
(R):5'- AAAGCAGCTGTGGTGATCG -3'

Sequencing Primer
(F):5'- CAGGAGAAGAGCACCTGCC -3'
(R):5'- TCAATGGTTCCTAAAGCCACGG -3'
Posted On 2018-06-22