Incidental Mutation 'R1432:Thoc2l'
ID 162293
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 039487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # R1432 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104665970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 164 (F164S)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096452
AA Change: F164S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F164S

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 0.9689 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.4%
  • 20x: 86.1%
Validation Efficiency 98% (90/92)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,217,361 (GRCm39) probably null Het
9130401M01Rik A T 15: 57,892,256 (GRCm39) L117Q probably damaging Het
Abcb1b A G 5: 8,887,771 (GRCm39) K886E possibly damaging Het
Acaa2 A T 18: 74,920,198 (GRCm39) I9F probably damaging Het
Acap2 A T 16: 30,929,901 (GRCm39) S386T probably damaging Het
Acsm2 A T 7: 119,172,798 (GRCm39) I138F possibly damaging Het
Agl T C 3: 116,540,342 (GRCm39) Y1424C probably damaging Het
Aoc1l1 T A 6: 48,952,588 (GRCm39) F171Y probably damaging Het
Apc2 T C 10: 80,148,183 (GRCm39) V1079A probably benign Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Armc8 C T 9: 99,405,185 (GRCm39) probably benign Het
Catsperb A G 12: 101,588,476 (GRCm39) Y953C probably damaging Het
Cdk13 G A 13: 17,893,001 (GRCm39) A720V probably damaging Het
Chka T C 19: 3,924,809 (GRCm39) probably benign Het
Clcc1 T C 3: 108,575,418 (GRCm39) I165T probably benign Het
Cndp1 G A 18: 84,652,777 (GRCm39) probably benign Het
Dip2c C A 13: 9,603,340 (GRCm39) P297Q probably damaging Het
Dnah17 A T 11: 117,914,153 (GRCm39) W4429R probably damaging Het
Dram2 T C 3: 106,478,082 (GRCm39) V138A possibly damaging Het
Dus4l T C 12: 31,698,770 (GRCm39) N78S probably benign Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ebf1 T C 11: 44,895,533 (GRCm39) probably benign Het
Epm2a T A 10: 11,266,587 (GRCm39) Y111N probably damaging Het
Gm773 T C X: 55,247,377 (GRCm39) T52A probably benign Het
Gpam C A 19: 55,067,693 (GRCm39) M483I probably damaging Het
Gpr12 T C 5: 146,520,235 (GRCm39) H229R probably damaging Het
Gpr149 T C 3: 62,438,439 (GRCm39) T573A probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hells T A 19: 38,945,628 (GRCm39) probably null Het
Herc1 T A 9: 66,372,751 (GRCm39) N3102K probably benign Het
Herc3 A T 6: 58,893,827 (GRCm39) T968S possibly damaging Het
Ift88 A G 14: 57,674,736 (GRCm39) Y69C probably benign Het
Incenp G A 19: 9,862,890 (GRCm39) T388M unknown Het
Jrkl A G 9: 13,245,337 (GRCm39) F108S probably benign Het
Khdc1a A G 1: 21,420,542 (GRCm39) E54G possibly damaging Het
Kif6 T A 17: 49,927,728 (GRCm39) F58L probably damaging Het
Klk14 T C 7: 43,344,342 (GRCm39) S218P probably damaging Het
Kmt2e T C 5: 23,655,319 (GRCm39) M19T probably benign Het
Llgl1 G T 11: 60,599,380 (GRCm39) G454C probably damaging Het
Lyrm4 A G 13: 36,276,898 (GRCm39) V33A probably benign Het
Mcam C T 9: 44,052,588 (GRCm39) R606C probably damaging Het
Mgam T A 6: 40,733,301 (GRCm39) M692K probably damaging Het
Mmp28 C T 11: 83,333,765 (GRCm39) R392H probably damaging Het
Mpdz G A 4: 81,210,788 (GRCm39) T1699M probably damaging Het
Mrps11 T C 7: 78,433,310 (GRCm39) probably benign Het
Mrtfb A G 16: 13,218,866 (GRCm39) N504S probably benign Het
Msmo1 A G 8: 65,180,650 (GRCm39) probably benign Het
Mst1 A G 9: 107,961,403 (GRCm39) E571G probably benign Het
Myh14 T C 7: 44,265,723 (GRCm39) E1585G probably damaging Het
Myrfl A G 10: 116,613,332 (GRCm39) C824R probably damaging Het
Ncapd3 C T 9: 26,981,168 (GRCm39) probably benign Het
Nlrp4a G GGTTCTTC 7: 26,163,622 (GRCm39) probably null Het
Nos1 C T 5: 118,087,684 (GRCm39) probably benign Het
Notch3 T C 17: 32,383,198 (GRCm39) S47G probably benign Het
Npsr1 A G 9: 24,221,371 (GRCm39) Y122C probably damaging Het
Or10ak12 T C 4: 118,666,435 (GRCm39) M209V probably benign Het
Or1j11 C T 2: 36,311,655 (GRCm39) L82F probably damaging Het
Or5a1 G T 19: 12,097,603 (GRCm39) R158S possibly damaging Het
Or6c1b C T 10: 129,272,807 (GRCm39) T42I probably damaging Het
Or6k2 T A 1: 173,986,483 (GRCm39) V48E possibly damaging Het
Or8b9 T A 9: 37,766,548 (GRCm39) L145M possibly damaging Het
Otog G T 7: 45,950,007 (GRCm39) V2490F probably damaging Het
Pibf1 T C 14: 99,350,425 (GRCm39) V191A probably benign Het
Pip A G 6: 41,826,852 (GRCm39) M66V probably benign Het
Plxna2 C T 1: 194,449,771 (GRCm39) R830C probably benign Het
Prkca A T 11: 107,830,346 (GRCm39) V248E probably benign Het
Prmt7 T A 8: 106,963,916 (GRCm39) L253* probably null Het
Prrc2a G T 17: 35,372,888 (GRCm39) probably benign Het
Rasgrf1 A G 9: 89,894,853 (GRCm39) D1091G probably benign Het
Rbm7 C A 9: 48,401,245 (GRCm39) G161V probably benign Het
Scn1a A T 2: 66,152,773 (GRCm39) I736N probably damaging Het
Skint6 A G 4: 112,726,721 (GRCm39) probably benign Het
Slc22a2 C T 17: 12,803,195 (GRCm39) H10Y possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stam2 A G 2: 52,604,821 (GRCm39) probably benign Het
Stk40 T C 4: 126,030,626 (GRCm39) L282P probably damaging Het
Tas2r110 A G 6: 132,845,331 (GRCm39) N121D probably damaging Het
Tbc1d32 A G 10: 55,893,758 (GRCm39) Y1272H probably damaging Het
Tmem131l T C 3: 83,836,021 (GRCm39) D696G probably damaging Het
Trdmt1 T C 2: 13,524,657 (GRCm39) Y266C probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Twf2 T A 9: 106,092,012 (GRCm39) probably benign Het
Ubap2l T C 3: 89,926,635 (GRCm39) T580A probably benign Het
Ugt1a10 C T 1: 88,143,982 (GRCm39) R201C probably damaging Het
Unc5a A G 13: 55,152,285 (GRCm39) probably benign Het
Vmn2r85 T C 10: 130,261,155 (GRCm39) N394S possibly damaging Het
Wrn A T 8: 33,809,169 (GRCm39) 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
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'- ATGGCGATGACCTCGACAACTG -3'
(R):5'- GTTCTGGCCTGCATTCAAACACTTC -3'

Sequencing Primer
(F):5'- TGCCGGATTCTCAGTGAAAG -3'
(R):5'- GGGATCTAGATTAAAGCACCCTATT -3'
Posted On 2014-03-14