Incidental Mutation 'R9457:Thap4'
ID 714618
Institutional Source Beutler Lab
Gene Symbol Thap4
Ensembl Gene ENSMUSG00000026279
Gene Name THAP domain containing 4
Synonyms 2010320B01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R9457 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 93633113-93682560 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 93678028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 253 (R253*)
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 null
Transcript: ENSMUST00000112905
AA Change: R253*
SMART Domains Protein: ENSMUSP00000108526
Gene: ENSMUSG00000026279
AA Change: R253*

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 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 benign
Transcript: ENSMUST00000189472
Predicted Effect probably null
Transcript: ENSMUST00000190116
AA Change: R253*
SMART Domains Protein: ENSMUSP00000140761
Gene: ENSMUSG00000026279
AA Change: R253*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930009A15Rik T C 10: 115,414,236 (GRCm39) L54P unknown Het
Ablim3 A G 18: 61,978,920 (GRCm39) S204P probably benign Het
Acadl A G 1: 66,892,400 (GRCm39) V141A probably benign Het
Ace3 A G 11: 105,885,687 (GRCm39) D31G probably benign Het
Acte1 T C 7: 143,437,713 (GRCm39) V137A possibly damaging Het
Adam11 T G 11: 102,660,724 (GRCm39) V85G probably benign Het
Adarb1 A T 10: 77,157,982 (GRCm39) M155K possibly damaging Het
Arhgap10 G A 8: 78,111,415 (GRCm39) T376M probably benign Het
Bod1l G T 5: 41,979,310 (GRCm39) T668K probably damaging Het
Ccdc87 A G 19: 4,891,659 (GRCm39) E717G probably damaging Het
Cdh17 T A 4: 11,771,329 (GRCm39) I37N probably damaging Het
Cfap99 T G 5: 34,458,741 (GRCm39) F45L probably benign Het
Chsy1 C A 7: 65,822,148 (GRCm39) H794Q probably benign Het
Clec4a3 G A 6: 122,931,045 (GRCm39) V45I probably benign Het
Clic3 G A 2: 25,347,730 (GRCm39) V32I probably benign Het
Clip2 A T 5: 134,531,584 (GRCm39) D740E probably benign Het
Col5a2 C T 1: 45,426,004 (GRCm39) V1062I probably benign Het
Col5a2 A G 1: 45,431,973 (GRCm39) probably null Het
Cyp2j11 C T 4: 96,195,596 (GRCm39) V367I probably damaging Het
Ddr1 C T 17: 35,993,650 (GRCm39) A821T possibly damaging Het
Dna2 G A 10: 62,786,572 (GRCm39) E107K probably benign Het
Eif3d A G 15: 77,843,894 (GRCm39) V484A probably benign Het
Fgfr4 A G 13: 55,308,940 (GRCm39) T354A probably benign Het
Fkbp6 T C 5: 135,378,486 (GRCm39) D54G probably benign Het
Gm4787 T A 12: 81,426,020 (GRCm39) E46V probably damaging Het
Gm47995 A G 1: 151,074,226 (GRCm39) T10A possibly damaging Het
Gnb1l T A 16: 18,359,745 (GRCm39) I50N probably damaging Het
Gphb5 A T 12: 75,462,523 (GRCm39) V22D probably damaging Het
Gstt4 C T 10: 75,650,959 (GRCm39) C221Y probably benign Het
Hmces T C 6: 87,910,256 (GRCm39) V222A possibly damaging Het
Kat14 T A 2: 144,215,702 (GRCm39) D62E probably benign Het
Kcnmb2 T A 3: 32,236,018 (GRCm39) V89E probably benign Het
Kif23 T A 9: 61,851,507 (GRCm39) N63I probably benign Het
Lamc2 T C 1: 153,015,600 (GRCm39) M578V probably benign Het
Ltbp2 A T 12: 84,835,927 (GRCm39) C1335S probably benign Het
Lyst A G 13: 13,862,330 (GRCm39) E2622G possibly damaging Het
Mctp1 A T 13: 76,532,793 (GRCm39) H47L probably benign Het
Mical2 A G 7: 112,010,665 (GRCm39) K618R probably damaging Het
Mllt6 T C 11: 97,556,586 (GRCm39) I92T probably benign Het
Morc2a A G 11: 3,626,184 (GRCm39) I223V probably benign Het
Msh3 A T 13: 92,481,594 (GRCm39) I306N probably benign Het
Myo3b T A 2: 69,925,553 (GRCm39) S35T probably benign Het
Nfkbiz A T 16: 55,634,347 (GRCm39) V700E probably damaging Het
Oit3 T A 10: 59,277,505 (GRCm39) M1L unknown Het
Or4c1 A T 2: 89,133,075 (GRCm39) I287N probably damaging Het
Or51l14 T A 7: 103,100,618 (GRCm39) F25I probably benign Het
Or8k17 A T 2: 86,066,816 (GRCm39) I114K probably damaging Het
Peg3 T G 7: 6,710,998 (GRCm39) D1408A probably damaging Het
Plaa A C 4: 94,475,120 (GRCm39) S201R possibly damaging Het
Potefam1 A T 2: 111,000,631 (GRCm39) M196K unknown Het
Psmd5 A G 2: 34,744,338 (GRCm39) S395P probably benign Het
Ralgapa2 T C 2: 146,176,474 (GRCm39) I1701V probably damaging Het
Rmc1 A G 18: 12,312,303 (GRCm39) H181R probably benign Het
Rnf32 G A 5: 29,411,184 (GRCm39) A157T probably damaging Het
Rrad T A 8: 105,356,359 (GRCm39) probably null Het
Samm50 T A 15: 84,092,042 (GRCm39) L339Q probably damaging Het
Scin T C 12: 40,154,957 (GRCm39) E212G possibly damaging Het
Scrib T C 15: 75,939,148 (GRCm39) D146G probably damaging Het
Slc19a1 G A 10: 76,885,605 (GRCm39) D502N probably benign Het
Slc4a4 T C 5: 89,362,432 (GRCm39) S839P probably damaging Het
Slc4a8 A G 15: 100,704,141 (GRCm39) D764G probably damaging Het
Slc6a19 G A 13: 73,829,884 (GRCm39) A590V probably damaging Het
Slfn8 G T 11: 82,908,532 (GRCm39) H4N probably benign Het
Smad9 T A 3: 54,696,756 (GRCm39) F274I possibly damaging Het
Snx4 A G 16: 33,106,380 (GRCm39) E271G probably benign Het
Spata31h1 A G 10: 82,122,573 (GRCm39) V3479A probably benign Het
Tektip1 C A 10: 81,201,611 (GRCm39) V4L probably benign Het
Tmem65 T A 15: 58,662,028 (GRCm39) I144F Het
Tnrc6a G A 7: 122,778,958 (GRCm39) R1223Q probably benign Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Trpm2 T C 10: 77,747,226 (GRCm39) Y1424C possibly damaging Het
Trrap T A 5: 144,763,478 (GRCm39) Y2457N probably damaging Het
Vmn1r7 A G 6: 57,001,508 (GRCm39) S251P probably damaging Het
Vmn2r89 A T 14: 51,693,469 (GRCm39) E273V probably damaging Het
Vps52 A G 17: 34,181,156 (GRCm39) D466G probably damaging Het
Xirp2 T C 2: 67,345,976 (GRCm39) V2739A probably benign Het
Zc3h4 C T 7: 16,168,675 (GRCm39) S1003F unknown Het
Zyg11a A T 4: 108,075,102 (GRCm39) H6Q probably damaging Het
Other mutations in Thap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1839:Thap4 UTSW 1 93,678,009 (GRCm39) missense probably benign 0.11
R2190:Thap4 UTSW 1 93,678,381 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- ACATGGGACTGGCATCACTATG -3'
(R):5'- AAACTCCAGGAGATGACCCG -3'

Sequencing Primer
(F):5'- ACTATGCTCACTCTGCACGG -3'
(R):5'- TCTGCTACAGAGGCTGACCAC -3'
Posted On 2022-06-15