Incidental Mutation 'R4742:Thoc2l'
ID 358122
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 041966-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R4742 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 104666723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 415 (N415I)
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: N415I

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: N415I

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 0.1953 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 94% (51/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik G T 13: 71,031,644 (GRCm39) R17L unknown Het
Acan T C 7: 78,750,517 (GRCm39) F1763L probably benign Het
Adgrb1 T A 15: 74,401,328 (GRCm39) L108* probably null Het
Anapc2 T A 2: 25,163,555 (GRCm39) probably null Het
Apbb1ip A G 2: 22,716,928 (GRCm39) K177E unknown Het
Azgp1 T A 5: 137,987,888 (GRCm39) Y223* probably null Het
Cfap44 T G 16: 44,269,615 (GRCm39) probably null Het
Chfr C T 5: 110,291,464 (GRCm39) T94I probably benign Het
Chrna10 T G 7: 101,762,344 (GRCm39) Q282P probably damaging Het
Col9a3 G T 2: 180,245,180 (GRCm39) G130W unknown Het
Dcaf1 A G 9: 106,735,754 (GRCm39) T901A probably benign Het
Dock2 T G 11: 34,244,170 (GRCm39) probably null Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Fdxacb1 A G 9: 50,679,968 (GRCm39) probably benign Het
Fhip1b A G 7: 105,033,518 (GRCm39) V566A probably damaging Het
Il31ra G T 13: 112,660,501 (GRCm39) S615* probably null Het
Itgam C T 7: 127,712,245 (GRCm39) S827F probably damaging Het
Mapkbp1 T A 2: 119,847,299 (GRCm39) V512E probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nab2 T C 10: 127,498,696 (GRCm39) T458A probably benign Het
Nadsyn1 A G 7: 143,352,367 (GRCm39) probably benign Het
Nek10 A G 14: 14,861,624 (GRCm38) D560G probably null Het
Or2ag13 A T 7: 106,472,635 (GRCm39) N272K probably damaging Het
Or2ak6 A G 11: 58,592,685 (GRCm39) R53G probably benign Het
Or8b46 T C 9: 38,450,952 (GRCm39) S254P probably damaging Het
Pou1f1 C A 16: 65,320,367 (GRCm39) P19T probably benign Het
Prdm9 A T 17: 15,773,783 (GRCm39) D329E probably damaging Het
Prkn T A 17: 11,456,591 (GRCm39) probably null Het
Ptprm A C 17: 67,051,746 (GRCm39) Y962* probably null Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtkn2 A G 10: 67,839,144 (GRCm39) T154A possibly damaging Het
Slitrk3 T C 3: 72,955,898 (GRCm39) D958G probably benign Het
Spata31d1b C A 13: 59,864,426 (GRCm39) H525N probably damaging Het
Tacc2 A G 7: 130,227,697 (GRCm39) R1461G probably benign Het
Tas2r105 G A 6: 131,663,814 (GRCm39) H205Y probably damaging Het
Tenm4 A G 7: 96,446,691 (GRCm39) N809D probably damaging Het
Tns1 A G 1: 74,163,449 (GRCm39) probably null Het
Top1 A G 2: 160,545,490 (GRCm39) probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Txndc9 T C 1: 38,026,765 (GRCm39) D135G possibly damaging Het
Usp3 A G 9: 66,427,959 (GRCm39) Y339H probably damaging Het
Vmn1r5 A T 6: 56,963,236 (GRCm39) K304* probably null Het
Vmn2r92 A G 17: 18,387,119 (GRCm39) T153A probably benign Het
Xkr5 A T 8: 18,998,746 (GRCm39) *55K probably null 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
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'- TTGGTGATTGGAAACATGCACAAAG -3'
(R):5'- CCTGGTCAGTAACGCTAAGC -3'

Sequencing Primer
(F):5'- AGTATTATGGACCATATGCCTCC -3'
(R):5'- TGGTCAGTAACGCTAAGCAAACAAC -3'
Posted On 2015-11-11