Incidental Mutation 'IGL00639:Thrap3'
ID 277842
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00639
Quality Score
Status
Chromosome 4
Chromosomal Location 126057875-126096548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 126059371 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 892 (G892S)
Ref Sequence ENSEMBL: ENSMUSP00000079722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000094760] [ENSMUST00000097891] [ENSMUST00000163176]
AlphaFold Q569Z6
Predicted Effect probably benign
Transcript: ENSMUST00000080919
AA Change: G892S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: G892S

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 unknown
Transcript: ENSMUST00000163459
AA Change: G182S
SMART Domains Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: G182S

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: ENSMUST00000152402
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154702
Predicted Effect probably benign
Transcript: ENSMUST00000163176
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adipor2 A T 6: 119,347,129 (GRCm39) C51* probably null Het
Atmin A G 8: 117,683,396 (GRCm39) D352G probably damaging Het
Cntln A G 4: 84,924,671 (GRCm39) E592G probably benign Het
Crygd C T 1: 65,101,250 (GRCm39) R115Q probably benign Het
Il31ra A T 13: 112,686,093 (GRCm39) Y65* probably null Het
Megf8 T C 7: 25,043,109 (GRCm39) F1344L possibly damaging Het
Pcdh18 T C 3: 49,710,065 (GRCm39) I417V probably benign Het
Prpf4b A G 13: 35,083,156 (GRCm39) N844S possibly damaging Het
Stard13 T C 5: 150,965,704 (GRCm39) E917G probably damaging Het
Tex15 T C 8: 34,065,339 (GRCm39) S1590P probably benign Het
Vrk1 T A 12: 106,022,175 (GRCm39) probably null Het
Zfp655 A G 5: 145,180,955 (GRCm39) Y271C probably damaging Het
Other mutations in Thrap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03055: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
Posted On 2015-04-16