Incidental Mutation 'R0349:Thoc2l'
ID 36066
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 038556-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R0349 (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 104667842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 788 (L788P)
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: L788P

PolyPhen 2 Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: L788P

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A T 19: 31,910,062 (GRCm39) S285C possibly damaging Het
Abcc9 A T 6: 142,610,351 (GRCm39) N604K probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgrl3 A G 5: 81,919,491 (GRCm39) T1192A probably damaging Het
Aldh1l2 A T 10: 83,326,478 (GRCm39) Y800N probably damaging Het
Ano3 A T 2: 110,491,832 (GRCm39) V865D probably damaging Het
App A T 16: 84,810,568 (GRCm39) L545Q probably damaging Het
Atp10a A G 7: 58,453,215 (GRCm39) D798G probably damaging Het
B3galnt2 T C 13: 14,166,059 (GRCm39) V318A probably benign Het
Clcn3 T A 8: 61,394,382 (GRCm39) D49V possibly damaging Het
Clcn6 T A 4: 148,108,651 (GRCm39) K126M possibly damaging Het
Cntln T A 4: 84,914,722 (GRCm39) S510T probably damaging Het
Csk A C 9: 57,535,477 (GRCm39) C290W probably damaging Het
Dmxl1 T A 18: 50,012,349 (GRCm39) M1502K probably damaging Het
Dpy19l2 T A 9: 24,607,218 (GRCm39) N81I possibly damaging Het
Dpyd T A 3: 118,710,748 (GRCm39) C385* probably null Het
Dst G A 1: 34,238,634 (GRCm39) V1765I probably benign Het
Eif5b A G 1: 38,071,447 (GRCm39) S459G probably benign Het
Fam83d A G 2: 158,621,768 (GRCm39) I160V possibly damaging Het
Fat3 A G 9: 15,942,476 (GRCm39) F1299L probably damaging Het
Fmn1 A G 2: 113,196,141 (GRCm39) I614V unknown Het
Fsd1l T A 4: 53,679,854 (GRCm39) V184E probably damaging Het
Fyco1 A G 9: 123,626,727 (GRCm39) V1328A probably damaging Het
Ganab T A 19: 8,889,016 (GRCm39) N572K probably null Het
Gbp10 T A 5: 105,368,942 (GRCm39) D299V possibly damaging Het
Gpr83 T G 9: 14,779,563 (GRCm39) L205R probably damaging Het
Hapln2 G A 3: 87,930,936 (GRCm39) P152S probably damaging Het
Htatip2 T C 7: 49,423,140 (GRCm39) Y232H probably benign Het
Itga2b C T 11: 102,358,252 (GRCm39) V158I probably damaging Het
Kansl3 T C 1: 36,390,864 (GRCm39) D390G probably damaging Het
Kcnh2 T C 5: 24,556,235 (GRCm39) D16G probably benign Het
Kctd8 A T 5: 69,498,353 (GRCm39) F98I probably damaging Het
Kif21b A T 1: 136,077,049 (GRCm39) E357V probably damaging Het
Kmt5c C T 7: 4,749,594 (GRCm39) R371C probably damaging Het
Kndc1 T C 7: 139,490,220 (GRCm39) F241L probably benign Het
Lrba A G 3: 86,447,312 (GRCm39) D2052G probably damaging Het
Lsr T A 7: 30,658,698 (GRCm39) I54F probably damaging Het
Matk G T 10: 81,094,328 (GRCm39) L28F probably benign Het
Mdn1 T C 4: 32,750,318 (GRCm39) L4429P probably damaging Het
Med29 CCTGCTGCTGCTGCTGC CCTGCTGCTGCTGC 7: 28,091,935 (GRCm39) probably benign Het
Msln G T 17: 25,969,250 (GRCm39) Q407K possibly damaging Het
Msr1 C T 8: 40,034,868 (GRCm39) G428R probably damaging Het
Myof A G 19: 37,899,417 (GRCm39) I1040T probably damaging Het
Nckap5 A G 1: 125,954,171 (GRCm39) S794P probably benign Het
Nfkbiz C T 16: 55,639,354 (GRCm39) probably null Het
Nr2c1 C T 10: 94,031,044 (GRCm39) S535L probably damaging Het
Opn3 A C 1: 175,519,870 (GRCm39) L78R probably damaging Het
Or11h4b G A 14: 50,918,711 (GRCm39) R127C probably benign Het
Or52n3 A T 7: 104,530,199 (GRCm39) D95V possibly damaging Het
Or5b12 A T 19: 12,897,299 (GRCm39) C125S probably damaging Het
Otulinl T A 15: 27,664,876 (GRCm39) I27L probably benign Het
Pcdhb9 A G 18: 37,535,632 (GRCm39) N542S probably damaging Het
Pdc T A 1: 150,209,178 (GRCm39) N220K probably benign Het
Pde6c A T 19: 38,150,797 (GRCm39) N569Y probably damaging Het
Pgm1 A T 4: 99,820,814 (GRCm39) K219M probably damaging Het
Pitpnb C T 5: 111,494,992 (GRCm39) T99M possibly damaging Het
Pou6f2 T A 13: 18,326,589 (GRCm39) Q71L probably damaging Het
Pramel24 T G 4: 143,453,629 (GRCm39) W246G probably benign Het
Prkd1 C A 12: 50,413,139 (GRCm39) L677F probably damaging Het
Ranbp17 T C 11: 33,450,689 (GRCm39) I78V probably benign Het
Rnft2 T A 5: 118,339,450 (GRCm39) K362M possibly damaging Het
Rprd1a T A 18: 24,639,904 (GRCm39) E259V possibly damaging Het
Scara3 A T 14: 66,169,230 (GRCm39) I129N probably damaging Het
Scgb1a1 A T 19: 9,062,753 (GRCm39) probably null Het
Sec16b A T 1: 157,359,746 (GRCm39) probably null Het
Slc18a1 A T 8: 69,524,753 (GRCm39) M167K probably damaging Het
Slc6a15 C T 10: 103,254,086 (GRCm39) A674V probably benign Het
Slc6a3 T C 13: 73,715,676 (GRCm39) F437S probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Stag1 T A 9: 100,658,837 (GRCm39) N141K probably damaging Het
Sun2 T C 15: 79,614,433 (GRCm39) E321G probably damaging Het
Taar2 C A 10: 23,817,327 (GRCm39) T289K possibly damaging Het
Taar2 T C 10: 23,817,407 (GRCm39) Y316H probably benign Het
Tbcd T A 11: 121,493,809 (GRCm39) probably null Het
Tecr G A 8: 84,298,904 (GRCm39) T106I probably damaging Het
Tmem60 T G 5: 21,091,628 (GRCm39) V131G probably benign Het
Uimc1 A G 13: 55,223,804 (GRCm39) V156A probably benign Het
Usp28 G A 9: 48,921,581 (GRCm39) W266* probably null Het
Vmn2r17 T A 5: 109,576,202 (GRCm39) S358T probably damaging Het
Wwc2 T A 8: 48,321,701 (GRCm39) Y471F unknown Het
Ythdc1 C T 5: 86,983,579 (GRCm39) R675C probably damaging Het
Zfp30 T C 7: 29,493,029 (GRCm39) S428P probably damaging Het
Zfp462 T A 4: 55,008,768 (GRCm39) C245S probably benign Het
Zscan30 T C 18: 24,104,455 (GRCm39) noncoding transcript 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
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'- AATGGAGCAGCTTGAGGCTATGAC -3'
(R):5'- TCATGGACAGGAGCCATCACCATC -3'

Sequencing Primer
(F):5'- TCCTCTCAGAGATTAAAGGATGCAC -3'
(R):5'- GTACTTATGAACTTTATGTTGCTGC -3'
Posted On 2013-05-09