Incidental Mutation 'IGL03055:Thrap3'
ID 470583
Institutional Source Beutler Lab
Gene Symbol Thrap3
Ensembl Gene ENSMUSG00000043962
Gene Name thyroid hormone receptor associated protein 3
Synonyms B230333E16Rik, Trap150, 9330151F09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # IGL03055 (G1)
Quality Score 30
Status Validated
Chromosome 4
Chromosomal Location 126057875-126096548 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 126059335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000163176]
AlphaFold Q569Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000080919
AA Change: R904W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: R904W

DomainStartEndE-ValueType
low complexity region 2 55 N/A INTRINSIC
low complexity region 77 95 N/A INTRINSIC
low complexity region 99 108 N/A INTRINSIC
Pfam:THRAP3_BCLAF1 123 788 1.9e-207 PFAM
low complexity region 790 801 N/A INTRINSIC
low complexity region 835 854 N/A INTRINSIC
low complexity region 892 910 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000094760
SMART Domains Protein: ENSMUSP00000092352
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 68 125 7.11e-22 SMART
low complexity region 211 221 N/A INTRINSIC
low complexity region 464 473 N/A INTRINSIC
coiled coil region 482 510 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000097891
SMART Domains Protein: ENSMUSP00000095501
Gene: ENSMUSG00000073758

DomainStartEndE-ValueType
SH3 1 57 4.29e-7 SMART
low complexity region 66 76 N/A INTRINSIC
SH3 86 141 2.96e-19 SMART
SH3 184 241 7.11e-22 SMART
low complexity region 327 337 N/A INTRINSIC
low complexity region 580 589 N/A INTRINSIC
coiled coil region 598 626 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141638
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142891
Predicted Effect probably null
Transcript: ENSMUST00000163459
SMART Domains Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 1 39 4e-17 PFAM
low complexity region 41 58 N/A INTRINSIC
low complexity region 59 77 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
Pfam:Btz 124 192 3.1e-4 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154702
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152402
Predicted Effect probably benign
Transcript: ENSMUST00000163176
Meta Mutation Damage Score 0.9043 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (58/59)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900041M22Rik T A 11: 117,503,072 (GRCm39) noncoding transcript Het
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
A430005L14Rik T A 4: 154,045,092 (GRCm39) S40R probably benign Het
Aire A G 10: 77,878,903 (GRCm39) L48P probably damaging Het
Alkbh8 T C 9: 3,345,882 (GRCm39) probably benign Het
Aqp7 A G 4: 41,045,326 (GRCm39) M18T probably benign Het
Cchcr1 T A 17: 35,837,516 (GRCm39) M406K probably benign Het
Cdhr1 A T 14: 36,817,054 (GRCm39) D102E probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Clec16a T A 16: 10,559,645 (GRCm39) S973T probably damaging Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Csmd1 A G 8: 16,145,515 (GRCm39) Y1471H probably damaging Het
Dnah12 A G 14: 26,594,697 (GRCm39) Y3489C probably damaging Het
Ect2 T C 3: 27,191,211 (GRCm39) E464G probably damaging Het
Enpp2 C A 15: 54,729,481 (GRCm39) probably null Het
Erich2 G T 2: 70,339,529 (GRCm39) C28F possibly damaging Het
Fam135b A T 15: 71,493,883 (GRCm39) H15Q possibly damaging Het
Fcna G C 2: 25,520,693 (GRCm39) probably benign Het
Gfral T A 9: 76,115,831 (GRCm39) T48S probably benign Het
Itga10 A G 3: 96,557,836 (GRCm39) E293G probably damaging Het
Lrp2 A T 2: 69,288,792 (GRCm39) N3691K probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nefm T C 14: 68,360,358 (GRCm39) T371A probably damaging Het
Nkain3 C A 4: 20,778,308 (GRCm39) C3F probably benign Het
Nol4l G C 2: 153,278,190 (GRCm39) silent Het
Nprl3 C A 11: 32,198,230 (GRCm39) probably benign Het
Or52p1 A T 7: 104,267,413 (GRCm39) I176F probably damaging Het
Pate2 T C 9: 35,523,069 (GRCm39) probably benign Het
Pde4d A G 13: 110,071,879 (GRCm39) K128R probably damaging Het
Ptprt A G 2: 161,375,533 (GRCm39) L1329P probably damaging Het
Rapgef3 T C 15: 97,647,370 (GRCm39) probably benign Het
Rassf5 T C 1: 131,172,732 (GRCm39) I46V probably benign Het
Rin1 C T 19: 5,103,187 (GRCm39) T481I probably benign Het
Samd4b A G 7: 28,104,971 (GRCm39) L524P possibly damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Srebf1 T C 11: 60,097,902 (GRCm39) silent Het
Ssh2 C T 11: 77,299,021 (GRCm39) Q123* probably null Het
St18 G T 1: 6,872,959 (GRCm39) L231F probably damaging Het
Stk11 A C 10: 79,963,920 (GRCm39) D96A probably damaging Het
Svil A G 18: 5,108,615 (GRCm39) T1918A probably damaging Het
Tlr1 C A 5: 65,083,939 (GRCm39) V213F probably benign Het
Trappc10 C T 10: 78,050,520 (GRCm39) R307Q probably damaging Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Wnt6 G A 1: 74,822,013 (GRCm39) R198H probably damaging Het
Yipf2 A T 9: 21,501,019 (GRCm39) V98E probably benign Het
Zc3h15 A G 2: 83,491,515 (GRCm39) T248A possibly damaging Het
Zc3hav1 C T 6: 38,293,251 (GRCm39) probably null Het
Zfp697 T G 3: 98,332,810 (GRCm39) C79G possibly damaging Het
Other mutations in Thrap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00639:Thrap3 APN 4 126,059,371 (GRCm39) missense probably benign 0.01
IGL00654:Thrap3 APN 4 126,059,371 (GRCm39) missense probably benign 0.01
IGL00763:Thrap3 APN 4 126,059,371 (GRCm39) missense probably benign 0.01
IGL00907:Thrap3 APN 4 126,059,371 (GRCm39) missense probably benign 0.01
IGL00990:Thrap3 APN 4 126,059,188 (GRCm39) unclassified probably benign
IGL01722:Thrap3 APN 4 126,059,322 (GRCm39) missense possibly damaging 0.87
IGL02487:Thrap3 APN 4 126,060,794 (GRCm39) missense possibly damaging 0.93
IGL02802:Thrap3 UTSW 4 126,059,157 (GRCm39) unclassified probably benign
IGL02837:Thrap3 UTSW 4 126,059,157 (GRCm39) unclassified probably benign
IGL02988:Thrap3 UTSW 4 126,059,335 (GRCm39) splice site probably null
IGL03050:Thrap3 UTSW 4 126,059,335 (GRCm39) splice site probably null
R0585:Thrap3 UTSW 4 126,072,367 (GRCm39) splice site probably null
R1023:Thrap3 UTSW 4 126,073,882 (GRCm39) missense possibly damaging 0.73
R1237:Thrap3 UTSW 4 126,073,862 (GRCm39) missense probably benign 0.02
R1445:Thrap3 UTSW 4 126,070,129 (GRCm39) missense probably damaging 1.00
R1601:Thrap3 UTSW 4 126,073,894 (GRCm39) missense probably damaging 1.00
R2058:Thrap3 UTSW 4 126,073,967 (GRCm39) missense probably damaging 1.00
R2063:Thrap3 UTSW 4 126,069,189 (GRCm39) missense possibly damaging 0.57
R2064:Thrap3 UTSW 4 126,069,189 (GRCm39) missense possibly damaging 0.57
R2065:Thrap3 UTSW 4 126,069,189 (GRCm39) missense possibly damaging 0.57
R2066:Thrap3 UTSW 4 126,069,189 (GRCm39) missense possibly damaging 0.57
R2067:Thrap3 UTSW 4 126,069,189 (GRCm39) missense possibly damaging 0.57
R2098:Thrap3 UTSW 4 126,073,823 (GRCm39) missense probably damaging 1.00
R3791:Thrap3 UTSW 4 126,061,293 (GRCm39) missense possibly damaging 0.76
R4052:Thrap3 UTSW 4 126,070,012 (GRCm39) missense probably damaging 1.00
R4097:Thrap3 UTSW 4 126,065,595 (GRCm39) missense probably damaging 1.00
R4153:Thrap3 UTSW 4 126,067,235 (GRCm39) critical splice donor site probably null
R4399:Thrap3 UTSW 4 126,060,872 (GRCm39) splice site probably benign
R5265:Thrap3 UTSW 4 126,061,433 (GRCm39) missense probably damaging 1.00
R5687:Thrap3 UTSW 4 126,074,279 (GRCm39) unclassified probably benign
R5993:Thrap3 UTSW 4 126,069,253 (GRCm39) splice site probably null
R6305:Thrap3 UTSW 4 126,074,600 (GRCm39) unclassified probably benign
R6917:Thrap3 UTSW 4 126,074,285 (GRCm39) unclassified probably benign
R7124:Thrap3 UTSW 4 126,074,231 (GRCm39) missense unknown
R7167:Thrap3 UTSW 4 126,078,920 (GRCm39) intron probably benign
R7227:Thrap3 UTSW 4 126,067,296 (GRCm39) missense probably damaging 1.00
R7343:Thrap3 UTSW 4 126,072,223 (GRCm39) missense probably damaging 0.98
R7695:Thrap3 UTSW 4 126,073,891 (GRCm39) missense probably damaging 1.00
R7889:Thrap3 UTSW 4 126,071,855 (GRCm39) missense probably benign 0.37
R7917:Thrap3 UTSW 4 126,069,213 (GRCm39) missense probably damaging 1.00
R8109:Thrap3 UTSW 4 126,080,273 (GRCm39) missense unknown
R9462:Thrap3 UTSW 4 126,070,048 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGAGGCTCCTTGTTTAGCTC -3'
(R):5'- TACAGCAGGGATGTTCCTCG -3'

Sequencing Primer
(F):5'- TTTCTTCCCCGGGCAAGG -3'
(R):5'- GATGTTCCTCGGTCTGAGCC -3'
Posted On 2017-03-15