Incidental Mutation 'R7945:Thoc2l'
ID 649281
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R7945 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 104666413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 312 (V312F)
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: V312F

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: V312F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,271,929 (GRCm39) R1610W probably damaging Het
Afg3l1 C A 8: 124,216,661 (GRCm39) A300E probably benign Het
Ano6 A G 15: 95,839,190 (GRCm39) Y423C probably damaging Het
Armh4 T A 14: 50,010,670 (GRCm39) T346S probably benign Het
Bltp1 G A 3: 37,020,042 (GRCm39) V2093I probably benign Het
Casp8ap2 A G 4: 32,645,909 (GRCm39) T1661A probably benign Het
Cdc42ep1 T A 15: 78,731,973 (GRCm39) S139R possibly damaging Het
Cep57 A G 9: 13,730,227 (GRCm39) Y104H probably damaging Het
Chrna4 T C 2: 180,670,454 (GRCm39) D434G probably benign Het
Clec1a T C 6: 129,409,150 (GRCm39) S159G probably benign Het
Cltc A T 11: 86,627,967 (GRCm39) N60K probably benign Het
Cpq T A 15: 33,594,382 (GRCm39) D464E probably benign Het
Ctcfl A C 2: 172,960,451 (GRCm39) V44G probably benign Het
Dcstamp T A 15: 39,623,797 (GRCm39) *471R probably null Het
Disp2 G A 2: 118,623,270 (GRCm39) R1334H probably damaging Het
Dspp TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG 5: 104,326,227 (GRCm39) probably benign Het
Ephb3 A G 16: 21,040,434 (GRCm39) T811A probably damaging Het
Fbxo21 T C 5: 118,146,212 (GRCm39) Y612H possibly damaging Het
Gm8005 T A 14: 42,260,330 (GRCm39) D102V Het
Golgb1 T C 16: 36,734,466 (GRCm39) S1279P probably benign Het
Hdgfl3 T C 7: 81,583,706 (GRCm39) Y22C possibly damaging Het
Hpse2 T C 19: 43,373,248 (GRCm39) N127S probably benign Het
Hrnr G T 3: 93,239,506 (GRCm39) G3248V unknown Het
Krtap27-1 T C 16: 88,468,340 (GRCm39) N68S probably benign Het
Lipo3 T C 19: 33,533,831 (GRCm39) M334V probably benign Het
Lrrc34 A G 3: 30,696,886 (GRCm39) probably null Het
Ltbp1 T G 17: 75,697,546 (GRCm39) *1713G probably null Het
Lypd6b A G 2: 49,833,612 (GRCm39) E84G probably damaging Het
Meiosin T A 7: 18,834,011 (GRCm39) K508N unknown Het
Mitd1 T C 1: 37,924,346 (GRCm39) Y68C probably damaging Het
Mrgprx2 T C 7: 48,132,753 (GRCm39) T22A probably benign Het
Mroh4 C T 15: 74,496,554 (GRCm39) E278K probably damaging Het
Mtmr4 T C 11: 87,495,254 (GRCm39) V437A probably damaging Het
Neb T C 2: 52,161,360 (GRCm39) D2144G probably damaging Het
Obscn T A 11: 58,984,235 (GRCm39) E1740V probably damaging Het
Or2bd2 A G 7: 6,443,354 (GRCm39) T152A probably benign Het
Or8i2 A G 2: 86,852,657 (GRCm39) V77A probably benign Het
Pcsk1 G A 13: 75,280,211 (GRCm39) A679T probably benign Het
Pdap1 G A 5: 145,068,249 (GRCm39) A138V probably damaging Het
Pdzph1 T C 17: 59,239,455 (GRCm39) T958A probably damaging Het
Plekha5 T A 6: 140,526,201 (GRCm39) H946Q possibly damaging Het
Ppat C A 5: 77,063,238 (GRCm39) V458L probably benign Het
Rock1 A G 18: 10,116,831 (GRCm39) L435P probably damaging Het
Rtn2 T A 7: 19,020,987 (GRCm39) S153R probably benign Het
Serpinb1c A T 13: 33,070,192 (GRCm39) H123Q probably benign Het
Slc1a5 C A 7: 16,523,807 (GRCm39) R271S possibly damaging Het
Slc23a3 A G 1: 75,106,040 (GRCm39) probably null Het
Slc7a6 C T 8: 106,906,239 (GRCm39) P157L possibly damaging Het
Syne2 A T 12: 75,951,079 (GRCm39) E410V probably damaging Het
Tasor2 A T 13: 3,626,085 (GRCm39) S1288R probably benign Het
Treh T C 9: 44,592,584 (GRCm39) V63A probably damaging Het
Trim50 T A 5: 135,382,156 (GRCm39) W3R probably benign Het
Ttc6 T G 12: 57,707,229 (GRCm39) L712R possibly damaging Het
Ttn G T 2: 76,715,309 (GRCm39) Q7928K unknown Het
Ugt3a1 T C 15: 9,284,261 (GRCm39) probably null Het
Wapl T C 14: 34,399,105 (GRCm39) I58T probably benign Het
Zgrf1 A G 3: 127,356,409 (GRCm39) E545G probably benign Het
Zmat4 T A 8: 24,238,436 (GRCm39) I6N possibly damaging Het
Zp3r G T 1: 130,524,560 (GRCm39) P226Q 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
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
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'- GTTTTACCAGGAGCCAAATGGTG -3'
(R):5'- CACCAACTCTTCGGTAAATAGGC -3'

Sequencing Primer
(F):5'- GAGACCCCATCTTCCTTGTATAGAG -3'
(R):5'- CATAGTATGGAGGCATATGGTCC -3'
Posted On 2020-09-15