Incidental Mutation 'R7884:Thoc2l'
ID 608935
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 045936-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R7884 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 104656216-104702073 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104669212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1245 (S1245P)
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: S1245P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: S1245P

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: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 T C 16: 38,422,593 (GRCm39) T1158A probably damaging Het
Arhgap32 A G 9: 32,171,810 (GRCm39) E1530G possibly damaging Het
C3 A G 17: 57,533,264 (GRCm39) F113S probably benign Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Csmd1 T C 8: 16,011,418 (GRCm39) N2545S probably damaging Het
Ctsh A G 9: 89,943,476 (GRCm39) D49G probably benign Het
Cyp7a1 T A 4: 6,272,697 (GRCm39) Y172F probably benign Het
Ddx52 A G 11: 83,842,911 (GRCm39) probably null Het
Dmxl1 A G 18: 50,026,474 (GRCm39) T1861A possibly damaging Het
Dnah7c C T 1: 46,830,929 (GRCm39) L3813F probably benign Het
Efl1 A G 7: 82,307,307 (GRCm39) I68V probably damaging Het
Etnk2 T C 1: 133,293,438 (GRCm39) V127A possibly damaging Het
Fank1 G C 7: 133,478,554 (GRCm39) R206P probably damaging Het
Fbxl9 A G 8: 106,042,165 (GRCm39) I221T probably benign Het
Fbxw27 G A 9: 109,618,468 (GRCm39) R73* probably null Het
Fndc1 A T 17: 7,992,029 (GRCm39) S556T unknown Het
Gnb3 T C 6: 124,814,055 (GRCm39) T178A probably benign Het
H2bc12 T C 13: 22,220,225 (GRCm39) S57P probably damaging Het
H2-M10.3 A T 17: 36,677,174 (GRCm39) L326Q probably benign Het
Idh2 GGTCCCAG GG 7: 79,748,077 (GRCm39) probably benign Het
Itfg2 T C 6: 128,393,344 (GRCm39) probably benign Het
Kcnma1 G A 14: 23,387,057 (GRCm39) P995L probably benign Het
Lama1 G A 17: 68,076,430 (GRCm39) G1068D Het
Lats1 A T 10: 7,573,290 (GRCm39) K125* probably null Het
Lipg C T 18: 75,081,078 (GRCm39) M334I probably damaging Het
Loxhd1 A T 18: 77,518,909 (GRCm39) E1905V probably damaging Het
Lpin1 C T 12: 16,612,370 (GRCm39) G544D Het
Lyst A T 13: 13,882,268 (GRCm39) N2853I probably benign Het
Mars1 A G 10: 127,136,114 (GRCm39) I525T probably damaging Het
Miga2 T A 2: 30,261,216 (GRCm39) D170E probably benign Het
Mrpl34 T C 8: 71,917,911 (GRCm39) V28A probably benign Het
Muc16 A T 9: 18,553,990 (GRCm39) V4101E unknown Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Myo1f A G 17: 33,817,270 (GRCm39) Y771C probably damaging Het
Nr2f1 G A 13: 78,337,988 (GRCm39) T376I probably benign Het
Nsd1 A G 13: 55,461,068 (GRCm39) T2535A probably damaging Het
Nup98 T A 7: 101,825,556 (GRCm39) T428S probably benign Het
Omd A G 13: 49,743,630 (GRCm39) M227V probably damaging Het
Osbpl7 A C 11: 96,951,283 (GRCm39) I657L possibly damaging Het
Pdgfrb T C 18: 61,205,730 (GRCm39) V572A probably damaging Het
Pik3c3 T C 18: 30,445,624 (GRCm39) V537A probably benign Het
Pou2f2 T C 7: 24,815,489 (GRCm39) M93V probably benign Het
Ppip5k2 T C 1: 97,668,207 (GRCm39) T640A probably benign Het
Ptar1 C T 19: 23,686,158 (GRCm39) P157S probably benign Het
Rapgef2 T A 3: 78,973,933 (GRCm39) D1471V possibly damaging Het
Rgs7 A T 1: 174,977,216 (GRCm39) probably null Het
Rhag A G 17: 41,142,536 (GRCm39) Y247C probably benign Het
Sardh A G 2: 27,129,383 (GRCm39) I305T probably damaging Het
Scn11a A G 9: 119,633,617 (GRCm39) I372T probably benign Het
Scn3a G T 2: 65,366,859 (GRCm39) D54E probably damaging Het
Senp2 A G 16: 21,832,981 (GRCm39) T90A probably benign Het
Serpinh1 C T 7: 98,998,495 (GRCm39) R45H probably benign Het
Siglecg T C 7: 43,058,703 (GRCm39) V152A probably benign Het
Sipa1l2 T A 8: 126,174,337 (GRCm39) M1314L probably benign Het
Slc23a1 A G 18: 35,759,002 (GRCm39) F63S possibly damaging Het
Slc25a40 T A 5: 8,492,509 (GRCm39) L133Q probably damaging Het
Slc6a16 A G 7: 44,908,771 (GRCm39) E117G probably damaging Het
Tmem235 G A 11: 117,755,033 (GRCm39) V162M probably benign Het
Trank1 A G 9: 111,221,584 (GRCm39) T2774A probably benign Het
Trav10n A T 14: 53,359,587 (GRCm39) H6L probably benign Het
Trav13d-3 G A 14: 53,270,704 (GRCm39) W55* probably null Het
Zfp654 G T 16: 64,672,011 (GRCm39) A2E probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P 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
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'- TCTGGGCAGCTGAAAAGTAG -3'
(R):5'- CAGATTTAGGCATTCTTTCTTTGGC -3'

Sequencing Primer
(F):5'- TGAATTTCATCACAAAGACCCTC -3'
(R):5'- AGGCATTCTTTCTTTGGCTTCTC -3'
Posted On 2019-12-20