Incidental Mutation 'R5114:Thoc2l'
ID 394073
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 042702-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R5114 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 104667742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 755 (F755I)
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: F755I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: F755I

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 0.7664 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 99% (93/94)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830454E08Rik T A 9: 120,406,693 (GRCm39) probably benign Het
Ada G A 2: 163,572,406 (GRCm39) R225C probably benign Het
Adamts9 T C 6: 92,867,254 (GRCm39) K625R probably benign Het
Ano1 T C 7: 144,210,820 (GRCm39) I182V possibly damaging Het
Aoc1l2 A T 6: 48,908,292 (GRCm39) M431L probably benign Het
Aox4 T C 1: 58,285,445 (GRCm39) V643A possibly damaging Het
Arcn1 T C 9: 44,671,441 (GRCm39) I29V probably benign Het
Arhgap15 A G 2: 43,670,630 (GRCm39) T5A probably benign Het
Asb10 A T 5: 24,745,740 (GRCm39) L62Q probably damaging Het
Atp23 T A 10: 126,723,403 (GRCm39) H233L possibly damaging Het
Bglap2 C T 3: 88,289,432 (GRCm39) probably benign Het
Carnmt1 T C 19: 18,655,098 (GRCm39) S84P probably damaging Het
Ccdc152 A G 15: 3,312,319 (GRCm39) I180T probably damaging Het
Cdr2l T C 11: 115,284,186 (GRCm39) F174S probably damaging Het
Celsr2 C T 3: 108,301,312 (GRCm39) V2695I probably benign Het
Chd1 C A 17: 15,948,460 (GRCm39) S127R probably benign Het
Chmp4c T A 3: 10,450,646 (GRCm39) F75L probably benign Het
Col13a1 A C 10: 61,725,880 (GRCm39) V260G possibly damaging Het
Col5a1 A G 2: 27,915,664 (GRCm39) N183D probably damaging Het
Cpn1 C T 19: 43,974,634 (GRCm39) V32M probably damaging Het
Cxcl1 A G 5: 91,039,373 (GRCm39) M39V probably benign Het
Dpep2 T A 8: 106,712,825 (GRCm39) D455V probably damaging Het
Dpp7 G A 2: 25,242,749 (GRCm39) T441I possibly damaging Het
Dst C A 1: 34,241,640 (GRCm39) H4001N probably damaging Het
Epg5 G A 18: 78,038,828 (GRCm39) A1519T probably benign Het
Esrp2 C T 8: 106,858,820 (GRCm39) V606I probably benign Het
Fbxo40 T C 16: 36,789,236 (GRCm39) K625E probably damaging Het
Gbp2b A T 3: 142,303,946 (GRCm39) I14F probably damaging Het
Gpr37l1 G T 1: 135,094,676 (GRCm39) F189L probably damaging Het
Heatr5a G A 12: 52,003,020 (GRCm39) Q161* probably null Het
Hspa4l T C 3: 40,700,197 (GRCm39) Y30H possibly damaging Het
Hspg2 G A 4: 137,239,237 (GRCm39) C388Y probably damaging Het
Kcna1 A G 6: 126,619,330 (GRCm39) I330T probably damaging Het
Klhl3 T A 13: 58,166,781 (GRCm39) Y350F probably benign Het
Kntc1 T C 5: 123,919,118 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,520 (GRCm39) C109* probably null Het
Lrch4 T C 5: 137,636,179 (GRCm39) S377P probably benign Het
Lrrc8c C A 5: 105,755,349 (GRCm39) H375N probably damaging Het
Lsg1 T C 16: 30,380,538 (GRCm39) E633G probably damaging Het
Mcoln1 T C 8: 3,560,697 (GRCm39) probably benign Het
Med12l C A 3: 59,167,109 (GRCm39) T1523K possibly damaging Het
Mrps27 A T 13: 99,547,973 (GRCm39) probably benign Het
Mzb1 T A 18: 35,780,717 (GRCm39) Y158F probably benign Het
Nat8l T A 5: 34,155,823 (GRCm39) C160S probably damaging Het
Ncf4 T C 15: 78,146,593 (GRCm39) probably benign Het
Or1b1 A T 2: 36,994,814 (GRCm39) Y283N probably damaging Het
Or1o3 T C 17: 37,573,730 (GRCm39) Y275C probably damaging Het
Pak2 T A 16: 31,861,936 (GRCm39) probably benign Het
Pcdhga12 T C 18: 37,901,160 (GRCm39) I664T probably benign Het
Pcnx2 A C 8: 126,564,749 (GRCm39) L1048R possibly damaging Het
Pcsk5 T C 19: 17,652,949 (GRCm39) M246V probably damaging Het
Pkd2l2 T A 18: 34,566,355 (GRCm39) V522D probably benign Het
Plekhh1 A T 12: 79,115,880 (GRCm39) M808L probably benign Het
Plpp2 C A 10: 79,362,973 (GRCm39) R157L probably benign Het
Plrg1 T A 3: 82,978,558 (GRCm39) H441Q probably benign Het
Pnpla6 T C 8: 3,572,613 (GRCm39) V300A probably damaging Het
Ptprb A T 10: 116,184,088 (GRCm39) K1633N possibly damaging Het
Ralgapa1 A G 12: 55,659,508 (GRCm39) V2004A possibly damaging Het
Rasd1 G T 11: 59,854,933 (GRCm39) S182R possibly damaging Het
Rc3h2 A T 2: 37,288,373 (GRCm39) probably null Het
Rrp1b T A 17: 32,255,445 (GRCm39) probably benign Het
Ruvbl1 T C 6: 88,474,272 (GRCm39) I425T probably benign Het
Shisal1 T C 15: 84,301,427 (GRCm39) D72G probably damaging Het
Sipa1l1 C T 12: 82,487,682 (GRCm39) A1652V probably benign Het
Slc12a2 A G 18: 58,032,344 (GRCm39) Y348C probably damaging Het
Slc14a2 C A 18: 78,238,963 (GRCm39) V219L possibly damaging Het
Smc1b G T 15: 84,949,185 (GRCm39) P1242Q probably damaging Het
Smim33 A G 18: 35,861,894 (GRCm39) Y126C probably damaging Het
Snx27 T A 3: 94,431,551 (GRCm39) D281V probably damaging Het
Spem2 C T 11: 69,707,973 (GRCm39) V331I probably benign Het
Sptb C A 12: 76,656,052 (GRCm39) K1343N probably damaging Het
Sult2a8 T C 7: 14,147,584 (GRCm39) I236V probably benign Het
Syk A G 13: 52,765,071 (GRCm39) E66G probably damaging Het
Synm T A 7: 67,385,406 (GRCm39) E310V probably damaging Het
Tas2r118 G A 6: 23,969,209 (GRCm39) A284V probably benign Het
Tlr11 A G 14: 50,600,578 (GRCm39) N855D possibly damaging Het
Tmem230 G T 2: 132,087,871 (GRCm39) probably benign Het
Trappc8 G A 18: 20,977,237 (GRCm39) T844I probably benign Het
Trmt44 T C 5: 35,722,812 (GRCm39) S419G possibly damaging Het
Trpv1 T A 11: 73,132,574 (GRCm39) V396E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tubgcp2 A G 7: 139,587,354 (GRCm39) I337T possibly damaging Het
Ubr4 T C 4: 139,137,934 (GRCm39) I1097T probably damaging Het
Vmn2r61 T C 7: 41,949,953 (GRCm39) F791S possibly damaging Het
Zdhhc2 T A 8: 40,898,825 (GRCm39) M45K probably benign Het
Zfp383 T A 7: 29,614,166 (GRCm39) D140E probably damaging Het
Zfp712 C A 13: 67,189,425 (GRCm39) K367N probably damaging Het
Zfp763 C T 17: 33,237,949 (GRCm39) A399T 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
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'- AGGCAGGCAAAAGTTTTGATCTAC -3'
(R):5'- AAATGCTGCATCATGGGGTG -3'

Sequencing Primer
(F):5'- AAATGACAATGGAGCAGCTTG -3'
(R):5'- CTGCATCATGGGGTGTATGAAATTC -3'
Posted On 2016-06-15