Incidental Mutation 'R6458:Thoc2l'
ID 517424
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 044593-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R6458 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104670169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 1564 (I1564L)
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: I1564L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I1564L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181620
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200034
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.3%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,655 (GRCm39) V28A possibly damaging Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Akap12 T C 10: 4,305,148 (GRCm39) S653P probably damaging Het
Anapc4 G A 5: 53,021,895 (GRCm39) R659H possibly damaging Het
Arel1 T C 12: 84,987,159 (GRCm39) N86D possibly damaging Het
Bco1 A G 8: 117,854,245 (GRCm39) D390G possibly damaging Het
Ccr1l1 A T 9: 123,778,203 (GRCm39) D81E probably damaging Het
Chd1 A T 17: 15,950,864 (GRCm39) N185I probably benign Het
Clca4b T G 3: 144,617,088 (GRCm39) N854T possibly damaging Het
Col4a4 T C 1: 82,433,546 (GRCm39) T1466A unknown Het
Cxcr4 T C 1: 128,516,831 (GRCm39) I277V probably benign Het
Dgkq A G 5: 108,802,242 (GRCm39) V441A possibly damaging Het
Dnah10 G T 5: 124,886,333 (GRCm39) L3030F probably damaging Het
Epg5 T A 18: 77,991,469 (GRCm39) D55E probably benign Het
Ermap A T 4: 119,035,337 (GRCm39) N550K probably damaging Het
Fnbp1l A T 3: 122,350,089 (GRCm39) I374N probably damaging Het
Gadl1 T A 9: 115,870,070 (GRCm39) *479K probably null Het
Gm5591 T A 7: 38,218,459 (GRCm39) T805S probably damaging Het
H2-T3 A T 17: 36,497,911 (GRCm39) M334K possibly damaging Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Il18r1 T A 1: 40,530,342 (GRCm39) Y356* probably null Het
Lingo3 A G 10: 80,671,150 (GRCm39) V260A probably damaging Het
Lrp2 T G 2: 69,335,500 (GRCm39) M1408L probably benign Het
Mical1 C A 10: 41,360,731 (GRCm39) H657N probably benign Het
Mpp2 T A 11: 101,971,595 (GRCm39) M12L probably benign Het
Muc16 A T 9: 18,553,017 (GRCm39) D4425E probably benign Het
Muc4 T A 16: 32,579,694 (GRCm39) probably null Het
Myt1l T A 12: 29,945,298 (GRCm39) F1021Y unknown Het
Nbas T C 12: 13,338,750 (GRCm39) S197P probably damaging Het
Nckap1 T C 2: 80,342,893 (GRCm39) probably null Het
Nek1 T G 8: 61,553,046 (GRCm39) V903G probably benign Het
Or14c43 A G 7: 86,114,888 (GRCm39) I90V probably damaging Het
Or1e18-ps1 T G 11: 73,279,517 (GRCm39) S112R probably damaging Het
Or4p22 T A 2: 88,317,562 (GRCm39) I162N possibly damaging Het
Or8b40 T C 9: 38,027,350 (GRCm39) V91A possibly damaging Het
Ppm1j T C 3: 104,688,560 (GRCm39) V53A probably benign Het
Ralgapb T A 2: 158,286,540 (GRCm39) D328E probably damaging Het
Rgma T A 7: 73,059,442 (GRCm39) V88E probably damaging Het
Slc30a6 A G 17: 74,730,108 (GRCm39) T333A probably damaging Het
Spr T C 6: 85,114,039 (GRCm39) probably null Het
Srek1 A T 13: 103,880,076 (GRCm39) V494E probably benign Het
Ston1 A T 17: 88,942,731 (GRCm39) T46S probably benign Het
Stox2 T C 8: 47,645,079 (GRCm39) K858E possibly damaging Het
Thoc1 G A 18: 9,993,333 (GRCm39) R564Q probably benign Het
Tmc5 T A 7: 118,244,539 (GRCm39) N472K probably damaging Het
Ttc41 A G 10: 86,594,134 (GRCm39) T856A possibly damaging Het
Ttn A T 2: 76,608,854 (GRCm39) W17721R probably damaging Het
Vmn1r69 A G 7: 10,314,365 (GRCm39) I43T probably benign Het
Vmn2r56 T A 7: 12,427,984 (GRCm39) I761F probably damaging Het
Zfp109 T C 7: 23,927,870 (GRCm39) D521G probably benign Het
Zfp516 A G 18: 83,005,475 (GRCm39) H793R probably benign Het
Zfp800 A T 6: 28,244,215 (GRCm39) I250N probably damaging Het
Zpbp T A 11: 11,358,538 (GRCm39) Y243F 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
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
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'- AGAGGCACCCTTGGACTTAATC -3'
(R):5'- TACTGTTTAGAGAGTGACACCAAG -3'

Sequencing Primer
(F):5'- CCCTTGGACTTAATCAAGAGGCG -3'
(R):5'- AAGAGCTCTGGCATCCTCAG -3'
Posted On 2018-05-21