Incidental Mutation 'R8418:Thoc2l'
ID 653031
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 067897-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R8418 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104667724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 749 (Q749K)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000096452
AA Change: Q749K

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: Q749K

DomainStartEndE-ValueType
Pfam:THOC2_N 10 424 3.5e-65 PFAM
Pfam:THOC2_N 415 566 5.8e-32 PFAM
Pfam:Thoc2 568 643 8.3e-40 PFAM
low complexity region 729 747 N/A INTRINSIC
Pfam:Tho2 873 1173 1.1e-105 PFAM
low complexity region 1251 1262 N/A INTRINSIC
low complexity region 1266 1283 N/A INTRINSIC
coiled coil region 1310 1335 N/A INTRINSIC
low complexity region 1355 1366 N/A INTRINSIC
low complexity region 1459 1482 N/A INTRINSIC
low complexity region 1524 1543 N/A INTRINSIC
low complexity region 1561 1569 N/A INTRINSIC
Meta Mutation Damage Score 0.4399 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 T C 17: 43,021,477 (GRCm39) H449R probably benign Het
Arfgef2 T C 2: 166,698,468 (GRCm39) V646A probably benign Het
Bean1 CT C 8: 104,908,664 (GRCm39) probably null Het
Ccdc62 C T 5: 124,084,455 (GRCm39) R279* probably null Het
Cimip2b A G 4: 43,427,204 (GRCm39) L76P unknown Het
Col6a5 G T 9: 105,755,821 (GRCm39) P2201Q probably damaging Het
Cpa3 T C 3: 20,276,315 (GRCm39) Y306C probably damaging Het
Cpne9 A G 6: 113,260,398 (GRCm39) N82D possibly damaging Het
Dcaf17 T A 2: 70,918,717 (GRCm39) D430E probably damaging Het
Dcst2 T C 3: 89,278,901 (GRCm39) V546A probably benign Het
Dennd1a T C 2: 37,748,403 (GRCm39) T359A probably benign Het
Dgkb C A 12: 38,380,016 (GRCm39) H591N probably damaging Het
Dnah17 G A 11: 117,994,284 (GRCm39) S1047F probably benign Het
Dock2 A G 11: 34,609,795 (GRCm39) I215T probably benign Het
Efcab12 A G 6: 115,799,076 (GRCm39) probably null Het
Erich3 C T 3: 154,415,378 (GRCm39) R165C Het
Gabrr1 C T 4: 33,162,615 (GRCm39) R394* probably null Het
Garnl3 G T 2: 32,942,158 (GRCm39) Q153K possibly damaging Het
Gars1 A G 6: 55,042,446 (GRCm39) N393S probably damaging Het
Gbp2b A T 3: 142,309,466 (GRCm39) E192D probably benign Het
Gm28360 A T 1: 117,781,357 (GRCm39) H116L probably benign Het
Gm9602 T A 14: 15,935,348 (GRCm39) probably benign Het
Gp1bb T A 16: 18,440,103 (GRCm39) H5L unknown Het
Grik3 A G 4: 125,579,835 (GRCm39) K527E possibly damaging Het
Hhip T C 8: 80,771,714 (GRCm39) M199V probably damaging Het
Irgm1 A G 11: 48,757,166 (GRCm39) V231A probably damaging Het
Itgal A T 7: 126,929,454 (GRCm39) I1124F probably benign Het
Kash5 A G 7: 44,843,501 (GRCm39) L241P probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Miga1 T G 3: 151,990,954 (GRCm39) Y433S probably damaging Het
Muc16 A T 9: 18,430,926 (GRCm39) I8062K possibly damaging Het
Ntsr2 T G 12: 16,706,662 (GRCm39) V230G possibly damaging Het
Or52ab2 A G 7: 102,970,278 (GRCm39) Y220C Het
Ptpn2 G A 18: 67,814,592 (GRCm39) T139M probably damaging Het
Pum2 T A 12: 8,760,245 (GRCm39) D145E possibly damaging Het
Radil T C 5: 142,480,676 (GRCm39) E593G probably benign Het
Rdh14 T C 12: 10,444,580 (GRCm39) F144L probably damaging Het
Sec23ip T G 7: 128,380,187 (GRCm39) D867E probably damaging Het
Serpina6 T C 12: 103,613,187 (GRCm39) Y371C probably damaging Het
Snx13 T A 12: 35,148,233 (GRCm39) I254N probably damaging Het
Tacc1 T C 8: 25,731,532 (GRCm39) K7E probably damaging Het
Timeless A C 10: 128,086,605 (GRCm39) N1048T probably benign Het
Tll2 C A 19: 41,081,276 (GRCm39) E732D probably damaging Het
Tmem171 A G 13: 98,828,740 (GRCm39) S137P probably damaging Het
Ttll3 A T 6: 113,371,734 (GRCm39) M44L probably benign Het
Vmn2r29 T A 7: 7,244,939 (GRCm39) I312L probably benign Het
Vmn2r43 A T 7: 8,258,583 (GRCm39) L210* probably null Het
Vmn2r60 A G 7: 41,844,850 (GRCm39) I738V probably damaging Het
Zfp977 T A 7: 42,229,410 (GRCm39) M372L probably benign Het
Other mutations in Thoc2l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Thoc2l APN 5 104,668,366 (GRCm39) missense probably damaging 1.00
IGL01024:Thoc2l APN 5 104,669,612 (GRCm39) missense probably benign 0.02
IGL01133:Thoc2l APN 5 104,665,528 (GRCm39) missense probably benign
IGL01564:Thoc2l APN 5 104,668,529 (GRCm39) missense probably benign 0.12
IGL01727:Thoc2l APN 5 104,667,379 (GRCm39) missense probably benign 0.01
IGL02086:Thoc2l APN 5 104,666,867 (GRCm39) missense possibly damaging 0.49
IGL02153:Thoc2l APN 5 104,668,949 (GRCm39) missense probably benign 0.02
IGL02256:Thoc2l APN 5 104,668,149 (GRCm39) nonsense probably null
IGL02436:Thoc2l APN 5 104,669,021 (GRCm39) missense probably benign 0.10
IGL02969:Thoc2l APN 5 104,667,209 (GRCm39) missense probably benign 0.01
IGL03275:Thoc2l APN 5 104,666,143 (GRCm39) missense probably benign 0.00
IGL03357:Thoc2l APN 5 104,668,334 (GRCm39) missense probably damaging 1.00
Magnetar UTSW 5 104,668,145 (GRCm39) missense probably damaging 0.99
F2404:Thoc2l UTSW 5 104,668,096 (GRCm39) missense possibly damaging 0.83
R0318:Thoc2l UTSW 5 104,665,619 (GRCm39) missense probably benign 0.00
R0349:Thoc2l UTSW 5 104,667,842 (GRCm39) missense possibly damaging 0.85
R0454:Thoc2l UTSW 5 104,666,077 (GRCm39) missense probably benign 0.45
R0742:Thoc2l UTSW 5 104,670,020 (GRCm39) missense probably benign 0.00
R0842:Thoc2l UTSW 5 104,667,066 (GRCm39) missense possibly damaging 0.81
R0882:Thoc2l UTSW 5 104,666,875 (GRCm39) missense probably benign 0.05
R1123:Thoc2l UTSW 5 104,666,336 (GRCm39) missense probably damaging 1.00
R1171:Thoc2l UTSW 5 104,668,769 (GRCm39) missense possibly damaging 0.49
R1205:Thoc2l UTSW 5 104,668,079 (GRCm39) missense probably benign 0.28
R1261:Thoc2l UTSW 5 104,668,501 (GRCm39) missense probably damaging 0.98
R1432:Thoc2l UTSW 5 104,665,970 (GRCm39) missense probably damaging 1.00
R1447:Thoc2l UTSW 5 104,670,070 (GRCm39) missense possibly damaging 0.89
R1466:Thoc2l UTSW 5 104,666,123 (GRCm39) missense probably damaging 0.99
R1466:Thoc2l UTSW 5 104,666,123 (GRCm39) missense probably damaging 0.99
R1584:Thoc2l UTSW 5 104,666,123 (GRCm39) missense probably damaging 0.99
R1636:Thoc2l UTSW 5 104,668,616 (GRCm39) missense probably damaging 0.99
R1686:Thoc2l UTSW 5 104,667,789 (GRCm39) nonsense probably null
R1698:Thoc2l UTSW 5 104,668,376 (GRCm39) missense probably benign 0.09
R1816:Thoc2l UTSW 5 104,665,700 (GRCm39) missense probably benign 0.16
R1903:Thoc2l UTSW 5 104,666,196 (GRCm39) missense probably benign 0.00
R2096:Thoc2l UTSW 5 104,667,835 (GRCm39) missense possibly damaging 0.95
R2146:Thoc2l UTSW 5 104,666,857 (GRCm39) missense probably benign
R2226:Thoc2l UTSW 5 104,667,286 (GRCm39) missense probably damaging 1.00
R2227:Thoc2l UTSW 5 104,667,286 (GRCm39) missense probably damaging 1.00
R2383:Thoc2l UTSW 5 104,666,854 (GRCm39) missense probably benign 0.23
R2656:Thoc2l UTSW 5 104,667,181 (GRCm39) missense probably benign 0.05
R3982:Thoc2l UTSW 5 104,668,889 (GRCm39) missense probably benign 0.29
R3983:Thoc2l UTSW 5 104,668,889 (GRCm39) missense probably benign 0.29
R4115:Thoc2l UTSW 5 104,667,299 (GRCm39) missense probably damaging 1.00
R4345:Thoc2l UTSW 5 104,669,315 (GRCm39) missense probably benign 0.21
R4697:Thoc2l UTSW 5 104,670,106 (GRCm39) missense probably benign 0.00
R4711:Thoc2l UTSW 5 104,667,527 (GRCm39) missense probably damaging 0.98
R4742:Thoc2l UTSW 5 104,666,723 (GRCm39) missense probably benign 0.17
R4758:Thoc2l UTSW 5 104,668,265 (GRCm39) missense possibly damaging 0.48
R4863:Thoc2l UTSW 5 104,665,616 (GRCm39) missense possibly damaging 0.89
R4867:Thoc2l UTSW 5 104,668,868 (GRCm39) missense possibly damaging 0.91
R5024:Thoc2l UTSW 5 104,670,124 (GRCm39) missense possibly damaging 0.68
R5114:Thoc2l UTSW 5 104,667,742 (GRCm39) missense probably damaging 0.99
R5117:Thoc2l UTSW 5 104,668,121 (GRCm39) missense probably damaging 1.00
R5289:Thoc2l UTSW 5 104,667,523 (GRCm39) missense probably benign 0.03
R5341:Thoc2l UTSW 5 104,665,942 (GRCm39) missense probably damaging 1.00
R5420:Thoc2l UTSW 5 104,666,225 (GRCm39) missense probably damaging 0.99
R5421:Thoc2l UTSW 5 104,666,261 (GRCm39) missense probably benign 0.01
R5422:Thoc2l UTSW 5 104,667,512 (GRCm39) missense probably damaging 0.98
R5606:Thoc2l UTSW 5 104,669,744 (GRCm39) missense probably benign 0.00
R5939:Thoc2l UTSW 5 104,667,073 (GRCm39) missense possibly damaging 0.56
R6104:Thoc2l UTSW 5 104,666,084 (GRCm39) missense probably damaging 1.00
R6169:Thoc2l UTSW 5 104,666,262 (GRCm39) missense probably benign 0.00
R6316:Thoc2l UTSW 5 104,667,595 (GRCm39) missense probably damaging 1.00
R6352:Thoc2l UTSW 5 104,668,064 (GRCm39) missense probably benign 0.11
R6408:Thoc2l UTSW 5 104,666,643 (GRCm39) missense probably benign 0.19
R6458:Thoc2l UTSW 5 104,670,169 (GRCm39) missense probably benign 0.02
R6722:Thoc2l UTSW 5 104,668,145 (GRCm39) missense probably damaging 0.99
R6789:Thoc2l UTSW 5 104,665,555 (GRCm39) missense probably benign 0.00
R7214:Thoc2l UTSW 5 104,670,229 (GRCm39) missense probably benign
R7494:Thoc2l UTSW 5 104,666,284 (GRCm39) missense possibly damaging 0.90
R7733:Thoc2l UTSW 5 104,667,826 (GRCm39) missense possibly damaging 0.82
R7884:Thoc2l UTSW 5 104,669,212 (GRCm39) missense possibly damaging 0.52
R7945:Thoc2l UTSW 5 104,666,413 (GRCm39) missense possibly damaging 0.93
R8112:Thoc2l UTSW 5 104,669,501 (GRCm39) missense probably benign
R8131:Thoc2l UTSW 5 104,669,027 (GRCm39) missense possibly damaging 0.95
R8963:Thoc2l UTSW 5 104,665,652 (GRCm39) missense probably benign 0.00
R9051:Thoc2l UTSW 5 104,666,818 (GRCm39) missense probably benign 0.07
R9169:Thoc2l UTSW 5 104,666,348 (GRCm39) missense probably damaging 1.00
R9250:Thoc2l UTSW 5 104,667,320 (GRCm39) missense probably benign 0.00
R9358:Thoc2l UTSW 5 104,667,826 (GRCm39) missense possibly damaging 0.82
R9451:Thoc2l UTSW 5 104,668,644 (GRCm39) missense probably benign 0.07
R9452:Thoc2l UTSW 5 104,669,610 (GRCm39) missense probably benign 0.00
R9567:Thoc2l UTSW 5 104,669,644 (GRCm39) missense probably benign 0.00
R9760:Thoc2l UTSW 5 104,667,101 (GRCm39) missense probably benign
Z1176:Thoc2l UTSW 5 104,668,058 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GGCAGGCAAAAGTTTTGATCTAC -3'
(R):5'- AATGCTGCATCATGGGGTG -3'

Sequencing Primer
(F):5'- TGGCAGGAATAGAAGTTACAGAG -3'
(R):5'- CTGCATCATGGGGTGTATGAAATTC -3'
Posted On 2020-10-20