Incidental Mutation 'R5420:Thoc2l'
ID 427979
Institutional Source Beutler Lab
Gene Symbol Thoc2l
Ensembl Gene ENSMUSG00000079065
Gene Name THO complex subunit 2-like
Synonyms Gm3179, BC005561
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.930) question?
Stock # R5420 (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 104666225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 249 (I249N)
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: I249N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: I249N

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 0.6815 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Pick1 A G 15: 79,133,040 (GRCm39) T367A probably benign Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R 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
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'- AAGCTGATTGTTGAATTAGGGCAAG -3'
(R):5'- CGGAAGGCAATACAACCATTG -3'

Sequencing Primer
(F):5'- GGGCAAGATTTATCTGGAAATATCAC -3'
(R):5'- ACAATTTGCTTAGCTTCCACAATTTC -3'
Posted On 2016-09-01