Incidental Mutation 'R4960:Thoc7'
ID 382318
Institutional Source Beutler Lab
Gene Symbol Thoc7
Ensembl Gene ENSMUSG00000053453
Gene Name THO complex 7
Synonyms 9230101K24Rik, 1500006O09Rik
MMRRC Submission 042557-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R4960 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8507911-8520751 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13953460 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 68 (D68E)
Ref Sequence ENSEMBL: ENSMUSP00000153123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065865] [ENSMUST00000223832] [ENSMUST00000225891] [ENSMUST00000225325]
AlphaFold Q7TMY4
Predicted Effect probably benign
Transcript: ENSMUST00000065865
AA Change: D72E

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: D72E

DomainStartEndE-ValueType
Pfam:THOC7 7 139 9.3e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000112652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159275
Predicted Effect probably benign
Transcript: ENSMUST00000223832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224392
Predicted Effect probably benign
Transcript: ENSMUST00000225891
AA Change: D63E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225325
AA Change: D68E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect unknown
Transcript: ENSMUST00000225559
AA Change: D54E
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224652
Predicted Effect probably benign
Transcript: ENSMUST00000225590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225401
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226008
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A T 6: 142,566,509 (GRCm39) probably null Het
Abtb3 A C 10: 85,487,526 (GRCm39) N998T probably benign Het
Adamts20 T C 15: 94,277,655 (GRCm39) H269R probably benign Het
Adamtsl1 C T 4: 86,342,410 (GRCm39) Q1642* probably null Het
Adamtsl3 A C 7: 82,216,185 (GRCm39) T863P probably damaging Het
Adcy3 G T 12: 4,184,896 (GRCm39) V191L probably benign Het
Akap9 G T 5: 4,007,664 (GRCm39) R244L probably benign Het
Anapc1 C T 2: 128,526,514 (GRCm39) V95M probably benign Het
Arhgap17 G T 7: 122,886,149 (GRCm39) probably benign Het
Art2b T A 7: 101,229,437 (GRCm39) Y154F probably damaging Het
Atrn C T 2: 130,836,967 (GRCm39) R1144* probably null Het
Atxn3 T C 12: 101,914,638 (GRCm39) S29G possibly damaging Het
Batf3 C T 1: 190,830,707 (GRCm39) P18S probably benign Het
Bmal1 T A 7: 112,898,642 (GRCm39) probably null Het
Bmpr1b A T 3: 141,576,546 (GRCm39) C96S probably damaging Het
Bola1 A G 3: 96,104,370 (GRCm39) S75P probably benign Het
Cela3a G A 4: 137,129,959 (GRCm39) R221* probably null Het
Chat A G 14: 32,142,771 (GRCm39) V406A possibly damaging Het
Chd1 T A 17: 15,962,493 (GRCm39) M750K probably damaging Het
Clip1 T A 5: 123,792,066 (GRCm39) K35* probably null Het
Cnr2 G A 4: 135,644,918 (GRCm39) G332D probably benign Het
Cnrip1 A G 11: 17,002,228 (GRCm39) D20G probably damaging Het
Col2a1 T C 15: 97,874,030 (GRCm39) Y1384C unknown Het
Col6a3 T A 1: 90,731,940 (GRCm39) I831F probably damaging Het
Cp G A 3: 20,027,961 (GRCm39) V456I probably damaging Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Ctbp2 T C 7: 132,615,967 (GRCm39) I323V probably benign Het
Ctnna2 C T 6: 77,630,094 (GRCm39) R120H probably damaging Het
Cyp2a12 A G 7: 26,733,575 (GRCm39) H318R probably benign Het
Cyp2c66 A T 19: 39,151,766 (GRCm39) probably null Het
Cyp2j8 T C 4: 96,395,614 (GRCm39) T4A probably benign Het
Cyp4v3 A G 8: 45,773,674 (GRCm39) V165A possibly damaging Het
D5Ertd579e G A 5: 36,773,571 (GRCm39) R275* probably null Het
Deup1 G T 9: 15,512,264 (GRCm39) Q160K possibly damaging Het
Dhx36 A T 3: 62,404,280 (GRCm39) I221K probably damaging Het
Dnah7b T A 1: 46,272,886 (GRCm39) M2338K probably benign Het
Dync2li1 T G 17: 84,940,969 (GRCm39) L62V probably benign Het
Ephb3 A G 16: 21,039,245 (GRCm39) K367R probably benign Het
Etv3 A G 3: 87,435,368 (GRCm39) K80E probably damaging Het
Flacc1 T A 1: 58,706,965 (GRCm39) E234V probably damaging Het
Gdap1l1 T C 2: 163,295,779 (GRCm39) F346L probably benign Het
Gm4787 C T 12: 81,426,090 (GRCm39) V23M probably damaging Het
Greb1l T A 18: 10,547,306 (GRCm39) I1508N probably damaging Het
Heatr5b G A 17: 79,139,013 (GRCm39) T43I probably benign Het
Hephl1 T C 9: 14,997,586 (GRCm39) Y360C probably damaging Het
Itgam A C 7: 127,715,012 (GRCm39) T865P possibly damaging Het
Kcnma1 T C 14: 24,054,186 (GRCm39) probably benign Het
Kidins220 T A 12: 25,042,259 (GRCm39) C185* probably null Het
Klhl35 G T 7: 99,118,275 (GRCm39) G273V probably damaging Het
Lama5 A G 2: 179,850,045 (GRCm39) probably null Het
Lamc3 A G 2: 31,805,966 (GRCm39) Q689R probably benign Het
Lnx2 C T 5: 146,955,850 (GRCm39) V649I probably benign Het
Lrrc43 A G 5: 123,637,675 (GRCm39) I281V probably benign Het
Ly6g6d C A 17: 35,290,730 (GRCm39) A67S probably benign Het
Map1b A G 13: 99,568,720 (GRCm39) S1334P probably benign Het
Mast1 T A 8: 85,644,500 (GRCm39) T810S probably benign Het
Matcap1 G T 8: 106,009,843 (GRCm39) R369S probably damaging Het
Mbnl1 A G 3: 60,503,117 (GRCm39) M1V probably null Het
Mc5r T G 18: 68,471,890 (GRCm39) M83R possibly damaging Het
Mkln1 T C 6: 31,435,941 (GRCm39) F300S probably damaging Het
Mrgpre A T 7: 143,335,088 (GRCm39) C138* probably null Het
Mtarc2 T A 1: 184,566,116 (GRCm39) M186L probably benign Het
Ncbp1 C T 4: 46,165,273 (GRCm39) Q529* probably null Het
Nherf1 A G 11: 115,067,289 (GRCm39) D180G probably benign Het
Nrcam A G 12: 44,613,082 (GRCm39) D591G probably benign Het
Nrxn3 A T 12: 88,761,971 (GRCm39) H6L possibly damaging Het
Nsmaf T A 4: 6,423,342 (GRCm39) D342V probably damaging Het
Oip5 TGAGAAA T 2: 119,448,342 (GRCm39) probably benign Het
Omt2a T A 9: 78,220,305 (GRCm39) E31D possibly damaging Het
Or4f62 A G 2: 111,986,697 (GRCm39) T134A probably benign Het
Or52n2b A G 7: 104,565,915 (GRCm39) I196T probably benign Het
Or5ac20 A G 16: 59,104,348 (GRCm39) S171P probably benign Het
Or6c88 A C 10: 129,406,895 (GRCm39) I124L probably damaging Het
Or9a2 C A 6: 41,749,003 (GRCm39) V77F probably damaging Het
Phyhipl A G 10: 70,404,815 (GRCm39) V131A probably benign Het
Pik3r5 A G 11: 68,384,464 (GRCm39) M619V probably benign Het
Pramel19 T C 4: 101,798,661 (GRCm39) Y211H probably benign Het
Ptprg A T 14: 12,237,837 (GRCm38) E1431D probably benign Het
Rnf20 A G 4: 49,638,029 (GRCm39) T85A probably damaging Het
Rtn3 A T 19: 7,433,886 (GRCm39) I683K probably damaging Het
Rwdd3 A G 3: 120,952,470 (GRCm39) F174L probably damaging Het
Ryr1 T C 7: 28,778,208 (GRCm39) Q2096R possibly damaging Het
Scrn1 T C 6: 54,511,407 (GRCm39) D111G probably damaging Het
Sema3e A G 5: 14,302,646 (GRCm39) R724G possibly damaging Het
She A G 3: 89,741,544 (GRCm39) M232V possibly damaging Het
Skic3 T A 13: 76,333,275 (GRCm39) V1508E possibly damaging Het
Slc25a54 A T 3: 109,020,132 (GRCm39) N382I possibly damaging Het
Slc26a2 T C 18: 61,331,875 (GRCm39) M519V probably damaging Het
Slc9a1 T A 4: 133,097,967 (GRCm39) L38H probably damaging Het
Snap47 A T 11: 59,319,369 (GRCm39) D256E probably damaging Het
Tacc3 A G 5: 33,829,326 (GRCm39) T610A probably benign Het
Tbc1d30 G A 10: 121,103,121 (GRCm39) T637M probably benign Het
Tbcd T A 11: 121,464,681 (GRCm39) M572K probably benign Het
Tmpo G A 10: 90,989,171 (GRCm39) T250M probably damaging Het
Tmtc1 TGTCCGCCAGGCCCTTGCCCCAGAAGTC TGTC 6: 148,345,445 (GRCm39) probably benign Het
Tnfaip1 A T 11: 78,418,396 (GRCm39) C224S possibly damaging Het
Tshz1 T C 18: 84,032,987 (GRCm39) T474A probably benign Het
Tspoap1 C T 11: 87,657,222 (GRCm39) Q345* probably null Het
Ttc21a A G 9: 119,774,067 (GRCm39) E258G possibly damaging Het
Ttyh1 T C 7: 4,131,225 (GRCm39) L232P probably damaging Het
Usp2 T A 9: 43,987,110 (GRCm39) L136Q probably damaging Het
Usp31 T C 7: 121,247,868 (GRCm39) S1192G probably damaging Het
Other mutations in Thoc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01544:Thoc7 APN 14 13,953,435 (GRCm38) missense probably damaging 1.00
IGL02630:Thoc7 APN 14 13,953,154 (GRCm38) missense probably damaging 0.99
IGL02737:Thoc7 APN 14 13,953,443 (GRCm38) missense possibly damaging 0.66
R0526:Thoc7 UTSW 14 13,949,282 (GRCm38) missense probably benign 0.00
R4917:Thoc7 UTSW 14 13,953,154 (GRCm38) missense probably damaging 0.99
R4918:Thoc7 UTSW 14 13,953,154 (GRCm38) missense probably damaging 0.99
R6496:Thoc7 UTSW 14 13,954,593 (GRCm38) missense possibly damaging 0.95
R7024:Thoc7 UTSW 14 13,953,528 (GRCm38) missense probably damaging 0.98
R7500:Thoc7 UTSW 14 13,951,204 (GRCm38) critical splice donor site probably null
R7619:Thoc7 UTSW 14 13,961,819 (GRCm38) start gained probably null
Z1177:Thoc7 UTSW 14 13,954,585 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATTCAACACTGTGGCTGCTG -3'
(R):5'- TTGCCTTTGTAACCAGAACAAC -3'

Sequencing Primer
(F):5'- GCTGACAGCTGACTCTTAATTACTG -3'
(R):5'- TTCACTTACAGCATTCTAGCAAAG -3'
Posted On 2016-04-27