Incidental Mutation 'R0318:Thoc2l'
ID 25497
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 038528-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R0318 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104665619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 47 (F47S)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000096452
AA Change: F47S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F47S

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
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.4%
  • 20x: 86.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,892,370 (GRCm39) L79Q probably damaging Het
Add1 T C 5: 34,782,684 (GRCm39) V130A probably damaging Het
Ankrd23 G T 1: 36,573,153 (GRCm39) T73K probably benign Het
Blk A G 14: 63,611,646 (GRCm39) Y430H probably damaging Het
C3 C T 17: 57,531,709 (GRCm39) V272M probably damaging Het
Cerk C T 15: 86,035,766 (GRCm39) A254T possibly damaging Het
Ces2a G A 8: 105,467,456 (GRCm39) A494T probably damaging Het
Cfap46 T C 7: 139,234,482 (GRCm39) Y258C probably damaging Het
Chaf1a C T 17: 56,369,227 (GRCm39) T486I possibly damaging Het
Colec12 A G 18: 9,848,446 (GRCm39) N208S possibly damaging Het
Coro7 T A 16: 4,493,671 (GRCm39) H63L probably benign Het
Cps1 T A 1: 67,216,173 (GRCm39) W833R probably damaging Het
Csmd3 A T 15: 47,522,549 (GRCm39) W2707R probably damaging Het
Dbn1 C T 13: 55,622,729 (GRCm39) E585K probably damaging Het
Ddx50 A T 10: 62,478,616 (GRCm39) I190K probably damaging Het
Dnmt3l G A 10: 77,890,889 (GRCm39) V264M probably damaging Het
Dnpep A G 1: 75,293,270 (GRCm39) V33A probably damaging Het
Fam163a A G 1: 155,955,715 (GRCm39) C26R probably damaging Het
Fam83h A G 15: 75,875,478 (GRCm39) S620P probably benign Het
Fcna A G 2: 25,515,071 (GRCm39) S263P probably benign Het
Fnip2 A T 3: 79,419,685 (GRCm39) S165R probably damaging Het
Fpr-rs3 T C 17: 20,844,410 (GRCm39) T244A probably benign Het
Gpr152 T C 19: 4,193,541 (GRCm39) S361P possibly damaging Het
Grm5 A T 7: 87,252,175 (GRCm39) I142L probably damaging Het
Gucy2g A G 19: 55,226,230 (GRCm39) S229P probably benign Het
Htr7 C T 19: 35,946,886 (GRCm39) G376D probably damaging Het
Irgc T C 7: 24,131,896 (GRCm39) D307G probably benign Het
Irs1 A T 1: 82,266,381 (GRCm39) S612T probably benign Het
Maml2 C T 9: 13,531,890 (GRCm39) T368I probably damaging Het
Mapkapk2 A G 1: 131,025,072 (GRCm39) V64A probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Nptx1 C T 11: 119,433,367 (GRCm39) E411K probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak25 C A 2: 85,268,581 (GRCm39) R307M possibly damaging Het
Pcgf5 A T 19: 36,389,590 (GRCm39) K22N possibly damaging Het
Psmd9 C A 5: 123,372,712 (GRCm39) A65E possibly damaging Het
Sh3bp1 A G 15: 78,795,907 (GRCm39) T679A probably damaging Het
Sipa1l2 G A 8: 126,174,436 (GRCm39) P1281S possibly damaging Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc25a24 A G 3: 109,064,316 (GRCm39) M222V probably benign Het
Smg9 T C 7: 24,120,313 (GRCm39) F429S possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Sorl1 T A 9: 41,993,250 (GRCm39) Y258F probably damaging Het
Srp72 C T 5: 77,132,047 (GRCm39) T242I probably benign Het
Stc1 A T 14: 69,275,867 (GRCm39) Q220L probably damaging Het
Tas2r122 T C 6: 132,688,795 (GRCm39) T33A possibly damaging Het
Tbc1d10b A G 7: 126,798,206 (GRCm39) L645P probably damaging Het
Timd4 T A 11: 46,727,898 (GRCm39) H272Q probably benign Het
Ttll5 T G 12: 85,923,368 (GRCm39) probably null Het
Veph1 G T 3: 65,964,680 (GRCm39) S783Y probably damaging Het
Vmn1r230 T C 17: 21,067,078 (GRCm39) L89S possibly damaging Het
Xcr1 A G 9: 123,685,219 (GRCm39) V165A possibly damaging Het
Zfp286 T C 11: 62,675,788 (GRCm39) D58G probably damaging Het
Zfyve26 C T 12: 79,323,055 (GRCm39) R897H probably damaging 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
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
R8418:Thoc2l UTSW 5 104,667,724 (GRCm39) missense possibly damaging 0.60
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'- CTTGAACCTCCTGGAAGCAAGAGTG -3'
(R):5'- TTGATAAGGCCCAATGACCCCAATG -3'

Sequencing Primer
(F):5'- GTTAGTGCATAAGTGCGGAC -3'
(R):5'- GATCCAAGCGTTCCTTTAGAACTG -3'
Posted On 2013-04-16