Incidental Mutation 'R1237:Thrap3'
ID 152453
Institutional Source Beutler Lab
Gene Symbol Thrap3
Ensembl Gene ENSMUSG00000043962
Gene Name thyroid hormone receptor associated protein 3
Synonyms B230333E16Rik, Trap150, 9330151F09Rik
MMRRC Submission 039304-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R1237 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 126057875-126096548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126073862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 295 (S295P)
Ref Sequence ENSEMBL: ENSMUSP00000101748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000106142] [ENSMUST00000123008] [ENSMUST00000136157] [ENSMUST00000163306] [ENSMUST00000169403]
AlphaFold Q569Z6
Predicted Effect probably benign
Transcript: ENSMUST00000080919
AA Change: S295P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: S295P

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: ENSMUST00000106142
AA Change: S295P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
AA Change: S295P

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 123 709 8.7e-163 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123008
SMART Domains Protein: ENSMUSP00000131956
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
low complexity region 2 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136157
SMART Domains Protein: ENSMUSP00000120140
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
low complexity region 6 53 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151728
Predicted Effect probably benign
Transcript: ENSMUST00000163306
SMART Domains Protein: ENSMUSP00000126399
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
Pfam:THRAP3_BCLAF1 49 136 1.2e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169855
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000169403
SMART Domains Protein: ENSMUSP00000125856
Gene: ENSMUSG00000043962

DomainStartEndE-ValueType
low complexity region 2 51 N/A INTRINSIC
Meta Mutation Damage Score 0.0628 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 105,096,223 (GRCm39) T500A probably damaging Het
Amz1 A T 5: 140,727,039 (GRCm39) M1L probably damaging Het
Angptl1 T A 1: 156,686,154 (GRCm39) N413K probably damaging Het
Ankrd13b T C 11: 77,365,400 (GRCm39) T70A probably damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Ccdc174 C T 6: 91,867,768 (GRCm39) probably benign Het
Ccnc T A 4: 21,730,457 (GRCm39) F31L probably benign Het
Celsr1 A C 15: 85,788,175 (GRCm39) S2692R probably benign Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Ddhd1 A T 14: 45,839,107 (GRCm39) D65E probably benign Het
Dync1h1 A G 12: 110,632,393 (GRCm39) N4504S probably benign Het
Enthd1 A G 15: 80,418,799 (GRCm39) S167P probably damaging Het
Fat1 A T 8: 45,497,316 (GRCm39) Y4267F probably damaging Het
Hectd4 C T 5: 121,459,570 (GRCm39) A813V possibly damaging Het
Ibtk T C 9: 85,602,801 (GRCm39) S735G probably benign Het
Itga4 A G 2: 79,109,490 (GRCm39) I230V probably null Het
Kcnh8 A T 17: 53,200,988 (GRCm39) Q474L probably damaging Het
Kcnh8 G T 17: 53,200,989 (GRCm39) Q474H probably damaging Het
Mib1 C T 18: 10,768,149 (GRCm39) T466I probably damaging Het
Or12d12 T A 17: 37,611,156 (GRCm39) R52S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or2l5 A C 16: 19,334,375 (GRCm39) Y4D probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Prdx6b A G 2: 80,123,520 (GRCm39) I110V probably benign Het
Prf1 A C 10: 61,139,428 (GRCm39) D462A probably benign Het
Rps6ka5 T C 12: 100,541,964 (GRCm39) D391G possibly damaging Het
Scn7a A T 2: 66,510,639 (GRCm39) N1254K probably damaging Het
Skor2 A T 18: 76,963,827 (GRCm39) K924* probably null Het
Slc22a21 A G 11: 53,870,598 (GRCm39) I29T probably benign Het
Tas2r140 T C 6: 133,032,171 (GRCm39) T196A probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Unc93b1 A G 19: 3,985,228 (GRCm39) E12G possibly damaging Het
Vgll3 T A 16: 65,636,459 (GRCm39) Y203* probably null Het
Vmn1r212 G A 13: 23,067,638 (GRCm39) Q232* probably null Het
Vmn2r107 T A 17: 20,576,947 (GRCm39) L315* probably null Het
Vmn2r84 T A 10: 130,223,725 (GRCm39) probably null Het
Washc5 A G 15: 59,210,757 (GRCm39) probably benign 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
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
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'- TTGAATATGCTGCCCCTCCCGAAG -3'
(R):5'- CCACAGCAGAGTTGAGTCGTCTAAG -3'

Sequencing Primer
(F):5'- TCCCGAAGCAGCACTCTC -3'
(R):5'- TGAGTCGTCTAAGCGAAAGTCTAC -3'
Posted On 2014-01-29