Incidental Mutation 'R8131:Thoc2l'
ID 632004
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 067560-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R8131 (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 G at 104669027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1183 (E1183G)
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: E1183G

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: E1183G

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 0.2563 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930544D05Rik A G 11: 70,506,834 (GRCm39) probably null Het
Abcb10 C T 8: 124,691,757 (GRCm39) A403T Het
Acan C T 7: 78,741,086 (GRCm39) P484L possibly damaging Het
Amotl2 T A 9: 102,597,615 (GRCm39) Y125N probably damaging Het
Apaf1 C A 10: 90,913,420 (GRCm39) V168F possibly damaging Het
Arhgap32 C T 9: 32,158,426 (GRCm39) H154Y probably damaging Het
B4galnt3 A G 6: 120,271,346 (GRCm39) probably null Het
Bahcc1 C T 11: 120,163,664 (GRCm39) A654V probably benign Het
Bcl11b T A 12: 107,931,967 (GRCm39) M202L probably benign Het
Cdc40 C A 10: 40,717,473 (GRCm39) R406L possibly damaging Het
Cemip C A 7: 83,652,616 (GRCm39) probably benign Het
Col26a1 T C 5: 136,775,894 (GRCm39) D353G probably benign Het
Col6a5 T A 9: 105,778,815 (GRCm39) Q1682L unknown Het
Cul9 C T 17: 46,822,168 (GRCm39) G1819D probably damaging Het
Cyp2b10 C T 7: 25,614,242 (GRCm39) Q239* probably null Het
Dthd1 T A 5: 63,000,259 (GRCm39) I527N probably damaging Het
Dzip3 C T 16: 48,754,156 (GRCm39) probably null Het
Ecm2 A G 13: 49,671,940 (GRCm39) E147G probably benign Het
Ercc6l2 C T 13: 63,982,561 (GRCm39) T132M probably damaging Het
Esf1 G A 2: 139,990,751 (GRCm39) Q578* probably null Het
Gria4 C T 9: 4,502,429 (GRCm39) R368H probably benign Het
Hps5 T C 7: 46,421,312 (GRCm39) D717G probably benign Het
Hrh1 A T 6: 114,457,253 (GRCm39) D178V probably benign Het
Inppl1 T C 7: 101,479,268 (GRCm39) N537S possibly damaging Het
Itih1 T C 14: 30,663,521 (GRCm39) Y165C probably damaging Het
Krt71 T A 15: 101,643,141 (GRCm39) I456F possibly damaging Het
Larp4 T C 15: 99,892,570 (GRCm39) V255A probably damaging Het
Lrriq1 T G 10: 103,051,572 (GRCm39) R393S possibly damaging Het
Mep1a T A 17: 43,813,558 (GRCm39) I31L probably benign Het
Muc5b C T 7: 141,396,146 (GRCm39) T134I unknown Het
Neurl4 T C 11: 69,800,067 (GRCm39) Y1052H probably benign Het
Nlrc5 C G 8: 95,208,420 (GRCm39) N755K probably damaging Het
Nrde2 T C 12: 100,108,502 (GRCm39) K363R probably benign Het
Pcdhb12 T C 18: 37,570,335 (GRCm39) S494P possibly damaging Het
Pcnx1 C A 12: 81,965,292 (GRCm39) S486R possibly damaging Het
Pira13 T A 7: 3,825,161 (GRCm39) R494* probably null Het
Plrg1 T A 3: 82,977,081 (GRCm39) V374E probably damaging Het
Plxnb2 A G 15: 89,042,916 (GRCm39) I1491T probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn4a T C 11: 106,232,367 (GRCm39) E490G probably benign Het
Sec16a A G 2: 26,300,958 (GRCm39) V887A Het
Serpina3a T C 12: 104,082,467 (GRCm39) I80T probably damaging Het
Setd1b A T 5: 123,281,443 (GRCm39) I66F unknown Het
Slirp T A 12: 87,494,428 (GRCm39) probably null Het
Socs6 A C 18: 88,888,169 (GRCm39) S249A probably benign Het
Ttn A T 2: 76,616,077 (GRCm39) I16622N probably damaging Het
Uox A T 3: 146,331,589 (GRCm39) T237S probably damaging Het
Vmn2r43 T A 7: 8,258,326 (GRCm39) I296L probably benign Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vps13b T C 15: 35,372,255 (GRCm39) probably null Het
Vps13d A G 4: 144,882,707 (GRCm39) V962A 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
R7945:Thoc2l UTSW 5 104,666,413 (GRCm39) missense possibly damaging 0.93
R8112:Thoc2l UTSW 5 104,669,501 (GRCm39) missense probably benign
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'- TGCCTCGAAACAGGTGAATATAC -3'
(R):5'- TTTGGTGTGACACTGGAAGC -3'

Sequencing Primer
(F):5'- TCGAAACAGGTGAATATACACATATC -3'
(R):5'- GGTGTGACACTGGAAGCTTTATTAGC -3'
Posted On 2020-06-30