Incidental Mutation 'R7227:Thrap3'
ID 562214
Institutional Source Beutler Lab
Gene Symbol Thrap3
Ensembl Gene ENSMUSG00000043962
Gene Name thyroid hormone receptor associated protein 3
Synonyms B230333E16Rik, Trap150, 9330151F09Rik
MMRRC Submission 045299-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.935) question?
Stock # R7227 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 126057875-126096548 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126067296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 683 (F683I)
Ref Sequence ENSEMBL: ENSMUSP00000079722 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080919] [ENSMUST00000106142] [ENSMUST00000163176] [ENSMUST00000163306]
AlphaFold Q569Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000080919
AA Change: F683I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079722
Gene: ENSMUSG00000043962
AA Change: F683I

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 damaging
Transcript: ENSMUST00000106142
AA Change: F683I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101748
Gene: ENSMUSG00000043962
AA Change: F683I

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 unknown
Transcript: ENSMUST00000163176
AA Change: F9I
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 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
Meta Mutation Damage Score 0.1330 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,952,449 (GRCm39) L344H probably damaging Het
Abcb1b T A 5: 8,875,593 (GRCm39) S589T probably damaging Het
Acsm2 A C 7: 119,190,556 (GRCm39) I520L probably benign Het
Ap2a2 T C 7: 141,200,784 (GRCm39) Y544H probably damaging Het
Ascc1 T A 10: 59,843,560 (GRCm39) Y41N probably benign Het
Bend3 T A 10: 43,387,401 (GRCm39) L598Q probably damaging Het
Cfap74 T G 4: 155,545,405 (GRCm39) Y1108* probably null Het
Cxcl17 C A 7: 25,102,319 (GRCm39) R41S probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Dnah2 A G 11: 69,312,222 (GRCm39) Y4370H probably damaging Het
Dzip3 T A 16: 48,771,932 (GRCm39) Q579L probably damaging Het
Enpp3 C T 10: 24,693,742 (GRCm39) M195I unknown Het
Esyt2 A G 12: 116,305,745 (GRCm39) D325G probably damaging Het
Fat1 T G 8: 45,463,646 (GRCm39) I1396S probably benign Het
Gigyf1 T A 5: 137,522,085 (GRCm39) I661K unknown Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Hivep1 T C 13: 42,310,387 (GRCm39) S876P probably benign Het
Hk3 C T 13: 55,160,053 (GRCm39) R362H probably benign Het
Ier3ip1 T A 18: 77,027,330 (GRCm39) M53K probably benign Het
Klhl5 T C 5: 65,298,631 (GRCm39) S137P probably benign Het
Kremen2 G T 17: 23,963,573 (GRCm39) Y70* probably null Het
Lag3 C T 6: 124,885,457 (GRCm39) G308S possibly damaging Het
Mab21l4 G T 1: 93,079,736 (GRCm39) N451K probably benign Het
Map4k2 T A 19: 6,396,624 (GRCm39) L542Q probably damaging Het
Mef2d G A 3: 88,065,514 (GRCm39) probably null Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mpp3 T A 11: 101,895,904 (GRCm39) Y457F possibly damaging Het
Mrpl12 T A 11: 120,379,178 (GRCm39) I175N probably damaging Het
Mybbp1a G T 11: 72,338,585 (GRCm39) K728N possibly damaging Het
Nfkb1 C T 3: 135,332,420 (GRCm39) V112M probably damaging Het
Nucb2 A T 7: 116,125,311 (GRCm39) D123V probably damaging Het
Or12j2 A G 7: 139,915,534 (GRCm39) probably benign Het
Orc3 T C 4: 34,572,542 (GRCm39) T629A probably benign Het
Pdk1 T A 2: 71,714,245 (GRCm39) N218K possibly damaging Het
Plce1 A G 19: 38,715,346 (GRCm39) T1298A probably benign Het
Ppan T A 9: 20,799,496 (GRCm39) probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Scn2a A C 2: 65,582,367 (GRCm39) I1572L probably damaging Het
Sec16a A T 2: 26,328,935 (GRCm39) Y1027N probably benign Het
Serpinb3a T A 1: 106,979,359 (GRCm39) T48S probably damaging Het
Slc30a8 A G 15: 52,195,032 (GRCm39) M264V probably benign Het
Slc44a3 A T 3: 121,303,879 (GRCm39) C286S possibly damaging Het
Slc8a2 T C 7: 15,878,906 (GRCm39) I464T possibly damaging Het
Smco1 T C 16: 32,092,833 (GRCm39) M168T possibly damaging Het
Spns2 A T 11: 72,349,513 (GRCm39) Y246* probably null Het
Ssbp2 T C 13: 91,823,244 (GRCm39) M213T probably benign Het
Stk40 G T 4: 126,017,559 (GRCm39) A29S probably benign Het
Tmc5 A G 7: 118,269,889 (GRCm39) T880A possibly damaging Het
Trim38 T A 13: 23,969,946 (GRCm39) N168K possibly damaging Het
Ube2d1 T A 10: 71,091,702 (GRCm39) Y134F possibly damaging Het
Vmn1r67 T A 7: 10,181,475 (GRCm39) Y246* probably null Het
Vmn2r18 T C 5: 151,496,264 (GRCm39) T485A probably damaging Het
Wrn T A 8: 33,738,974 (GRCm39) I1285F probably damaging Het
Xrcc1 C A 7: 24,246,757 (GRCm39) H8Q probably damaging Het
Zkscan4 T C 13: 21,668,413 (GRCm39) V317A 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
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
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'- ACCACTTCACAAAGGTTGTTGATAC -3'
(R):5'- AAGTGCATGCTAGGCTACAC -3'

Sequencing Primer
(F):5'- GTTCATTTTTAGAATTATGCCCATCC -3'
(R):5'- GTGCATGCTAGGCTACACACTTAATC -3'
Posted On 2019-06-26