Incidental Mutation 'R2656:Thoc2l'
ID 252737
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 040431-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R2656 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104667181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 568 (I568V)
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: I568V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I568V

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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 A G 5: 8,167,696 (GRCm39) C655R probably damaging Het
Adgrf3 A T 5: 30,401,436 (GRCm39) V864D possibly damaging Het
Angptl3 A G 4: 98,926,201 (GRCm39) I444V probably benign Het
Atp8b2 C T 3: 89,849,065 (GRCm39) A1090T probably benign Het
Bcl2l2 C T 14: 55,122,889 (GRCm39) R47C probably benign Het
Ces2a G A 8: 105,462,766 (GRCm39) M118I probably benign Het
Cyp4a29 T G 4: 115,106,921 (GRCm39) L193V possibly damaging Het
Dpp8 A G 9: 64,988,086 (GRCm39) Y877C probably damaging Het
Enpp6 C T 8: 47,535,453 (GRCm39) R33* probably null Het
Fsip2 G A 2: 82,809,389 (GRCm39) D1903N possibly damaging Het
Ggt1 T A 10: 75,417,219 (GRCm39) Y5* probably null Het
Gm14412 A T 2: 177,006,993 (GRCm39) C301S unknown Het
Gpatch2l T A 12: 86,335,584 (GRCm39) D428E probably damaging Het
Grin2b C T 6: 135,710,427 (GRCm39) G1040S probably damaging Het
Has2 T C 15: 56,545,224 (GRCm39) D126G possibly damaging Het
Itgam T G 7: 127,715,987 (GRCm39) L1120R probably null Het
Kank4 T C 4: 98,667,194 (GRCm39) N418D probably damaging Het
Kcnk3 T C 5: 30,780,015 (GRCm39) V355A possibly damaging Het
Lonrf2 C T 1: 38,855,041 (GRCm39) probably null Het
Lrp1b A T 2: 41,401,593 (GRCm39) C240S probably damaging Het
Mapk8ip3 T G 17: 25,131,781 (GRCm39) E386A probably damaging Het
Mtmr14 A G 6: 113,217,327 (GRCm39) I80V probably benign Het
Nav2 A C 7: 49,195,690 (GRCm39) D961A probably damaging Het
Nmt2 A G 2: 3,308,050 (GRCm39) D107G probably benign Het
Nsd1 A G 13: 55,394,681 (GRCm39) K761E probably damaging Het
Ogdh A G 11: 6,298,678 (GRCm39) T641A probably benign Het
Ogdhl T G 14: 32,054,783 (GRCm39) F244V possibly damaging Het
Or2ag17 T A 7: 106,389,720 (GRCm39) T163S probably damaging Het
Or51k1 G A 7: 103,661,072 (GRCm39) S279L probably damaging Het
Or5b102 A T 19: 13,041,348 (GRCm39) H191L probably benign Het
Or5b97 A G 19: 12,879,030 (GRCm39) I38T probably benign Het
Pfpl T C 19: 12,407,600 (GRCm39) I617T probably benign Het
Ppfia2 T G 10: 106,701,268 (GRCm39) probably null Het
Prickle1 T C 15: 93,401,251 (GRCm39) E411G probably benign Het
Prpsap2 C A 11: 61,621,051 (GRCm39) M343I probably benign Het
Prpsap2 A G 11: 61,643,717 (GRCm39) V72A probably benign Het
Ranbp17 A T 11: 33,193,122 (GRCm39) D977E probably benign Het
Rin1 T C 19: 5,102,204 (GRCm39) S238P probably damaging Het
Scap C T 9: 110,203,087 (GRCm39) R254W probably damaging Het
Scn3a T C 2: 65,356,862 (GRCm39) D194G probably damaging Het
Shisa7 T C 7: 4,832,818 (GRCm39) H481R possibly damaging Het
Slc6a6 T C 6: 91,718,029 (GRCm39) Y323H probably damaging Het
Tlr9 T C 9: 106,101,140 (GRCm39) S144P probably benign Het
Tmem69 T A 4: 116,410,787 (GRCm39) K61M probably damaging Het
Ttc21a A G 9: 119,770,331 (GRCm39) D134G probably damaging Het
Ttn A G 2: 76,724,614 (GRCm39) probably benign Het
Vwf A G 6: 125,532,324 (GRCm39) T26A probably benign Het
Zbtb16 A T 9: 48,743,988 (GRCm39) I108N probably damaging Het
Zc3h7b T A 15: 81,664,631 (GRCm39) Y497N probably damaging Het
Zfp652 A G 11: 95,640,155 (GRCm39) S27G probably damaging Het
Zfp808 A G 13: 62,320,666 (GRCm39) T632A possibly damaging Het
Znhit6 T C 3: 145,283,924 (GRCm39) 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
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'- GCATGTCTGAGGAACTATGGGG -3'
(R):5'- AAGCCAGTTGGAGATGGTTG -3'

Sequencing Primer
(F):5'- AGGAACTATGGGGAATGTTTAAAAC -3'
(R):5'- ATGGTTGTGTCATCATGTTTCATCC -3'
Posted On 2014-12-04