Incidental Mutation 'R5265:Thrap3'
ID 401637
Institutional Source Beutler Lab
Gene Symbol Thrap3
Ensembl Gene ENSMUSG00000043962
Gene Name thyroid hormone receptor associated protein 3
Synonyms B230333E16Rik, Trap150, 9330151F09Rik
MMRRC Submission 042833-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R5265 (G1)
Quality Score 212
Status Validated
Chromosome 4
Chromosomal Location 126057875-126096548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126061433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 774 (S774P)
Ref Sequence ENSEMBL: ENSMUSP00000079722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000097891] [ENSMUST00000163176]
AlphaFold Q569Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000080919
AA Change: S774P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: S774P

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: 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 noncoding transcript
Transcript: ENSMUST00000154702
Predicted Effect unknown
Transcript: ENSMUST00000163459
AA Change: S64P
SMART Domains Protein: ENSMUSP00000129775
Gene: ENSMUSG00000043962
AA Change: S64P

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: ENSMUST00000163176
Meta Mutation Damage Score 0.0809 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,166,177 (GRCm39) W66R probably damaging Het
Adamts3 A G 5: 90,009,411 (GRCm39) V84A possibly damaging Het
Caap1 C A 4: 94,389,465 (GRCm39) E290* probably null Het
Cant1 G A 11: 118,298,876 (GRCm39) R296C probably damaging Het
Cdh5 A T 8: 104,869,371 (GRCm39) H699L probably benign Het
Cfdp1 T C 8: 112,557,617 (GRCm39) T175A probably benign Het
Col4a4 C T 1: 82,471,312 (GRCm39) G681E unknown Het
Comtd1 G A 14: 21,898,861 (GRCm39) T27I probably benign Het
Copg1 T A 6: 87,869,252 (GRCm39) V155D probably damaging Het
Dag1 A G 9: 108,084,898 (GRCm39) Y748H possibly damaging Het
Dmwd T A 7: 18,814,206 (GRCm39) N285K possibly damaging Het
Dsp A G 13: 38,379,159 (GRCm39) E1968G possibly damaging Het
Ednra A G 8: 78,394,004 (GRCm39) I364T probably damaging Het
Elovl3 C A 19: 46,123,120 (GRCm39) T232K probably damaging Het
Ercc3 T A 18: 32,387,296 (GRCm39) I503N probably damaging Het
Ercc6 C A 14: 32,291,580 (GRCm39) A1008D probably benign Het
Gm10563 TTTC TTTCATTC 4: 155,698,953 (GRCm39) probably null Het
H2-DMb2 G T 17: 34,367,536 (GRCm39) V117F probably damaging Het
Helt A T 8: 46,745,470 (GRCm39) W138R probably damaging Het
Itga11 A T 9: 62,644,694 (GRCm39) H215L probably benign Het
Kcnn1 T A 8: 71,307,297 (GRCm39) I156F probably benign Het
Kdm1b A G 13: 47,216,445 (GRCm39) N272D probably benign Het
Kdm2b T C 5: 123,016,651 (GRCm39) T1161A probably damaging Het
Lin54 A G 5: 100,633,378 (GRCm39) L102P probably damaging Het
Mlh1 A C 9: 111,100,591 (GRCm39) M1R probably null Het
Naip2 G A 13: 100,289,068 (GRCm39) L1165F probably damaging Het
Nfkbiz A G 16: 55,640,004 (GRCm39) S118P probably damaging Het
Nkx3-2 T A 5: 41,919,191 (GRCm39) M266L probably benign Het
Npr1 T C 3: 90,364,309 (GRCm39) E771G probably benign Het
Obox8 C T 7: 14,065,954 (GRCm39) R188H probably benign Het
Odad1 T A 7: 45,596,859 (GRCm39) D395E probably damaging Het
Or5h19 A T 16: 58,856,506 (GRCm39) V198D possibly damaging Het
Or5p72 T A 7: 108,022,609 (GRCm39) V277E possibly damaging Het
Palm3 T C 8: 84,748,159 (GRCm39) probably null Het
Palmd A T 3: 116,717,498 (GRCm39) V333D possibly damaging Het
Pikfyve A G 1: 65,306,988 (GRCm39) E1747G possibly damaging Het
Polr3a T C 14: 24,505,009 (GRCm39) I1084V possibly damaging Het
Ranbp3l T A 15: 9,037,077 (GRCm39) F127I probably benign Het
Rsl1d1 A G 16: 11,019,248 (GRCm39) F97L possibly damaging Het
Scaper A G 9: 55,771,830 (GRCm39) V362A probably benign Het
Scg5 A T 2: 113,607,210 (GRCm39) L192* probably null Het
Slc34a2 T C 5: 53,218,776 (GRCm39) I198T probably damaging Het
Slc45a3 T A 1: 131,905,932 (GRCm39) D318E possibly damaging Het
Sorl1 A G 9: 42,017,812 (GRCm39) M105T possibly damaging Het
St3gal5 T A 6: 72,126,115 (GRCm39) I320N probably damaging Het
Stx17 A G 4: 48,183,470 (GRCm39) probably benign Het
Syt5 C T 7: 4,544,074 (GRCm39) probably null Het
Tnc A T 4: 63,911,443 (GRCm39) M1376K probably benign Het
Tnks1bp1 T A 2: 84,893,098 (GRCm39) D1008E probably benign Het
Trav7-1 G T 14: 52,892,761 (GRCm39) A105S probably damaging Het
Vmn1r28 T A 6: 58,242,949 (GRCm39) V264D probably damaging Het
Vmn1r44 T C 6: 89,870,821 (GRCm39) V46A probably benign Het
Vmn2r10 A G 5: 109,143,586 (GRCm39) I788T probably damaging Het
Vmn2r78 T A 7: 86,569,332 (GRCm39) I75N probably damaging Het
Zfp821 T C 8: 110,450,991 (GRCm39) M328T probably damaging Het
Zfp995 G A 17: 22,099,604 (GRCm39) P210L 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
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
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'- CCTTACAAAGGTTCCCCGAG -3'
(R):5'- AGAGGAAACCCCAGGTCTAC -3'

Sequencing Primer
(F):5'- TACAAAGGTTCCCCGAGCTCTG -3'
(R):5'- TGGCTGACAGACCAGTCTTG -3'
Posted On 2016-07-06