Incidental Mutation 'R7024:Thoc7'
ID 545859
Institutional Source Beutler Lab
Gene Symbol Thoc7
Ensembl Gene ENSMUSG00000053453
Gene Name THO complex 7
Synonyms 9230101K24Rik, 1500006O09Rik
MMRRC Submission 045125-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R7024 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 8507911-8520751 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13953528 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 46 (Y46H)
Ref Sequence ENSEMBL: ENSMUSP00000153123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065865] [ENSMUST00000223832] [ENSMUST00000225325] [ENSMUST00000225891]
AlphaFold Q7TMY4
Predicted Effect possibly damaging
Transcript: ENSMUST00000065865
AA Change: Y50H

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: Y50H

DomainStartEndE-ValueType
Pfam:THOC7 7 139 9.3e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000223832
Predicted Effect probably damaging
Transcript: ENSMUST00000225325
AA Change: Y46H

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000225590
Predicted Effect probably benign
Transcript: ENSMUST00000225891
AA Change: Y41H

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik A G 16: 88,424,108 (GRCm39) S128P probably damaging Het
Abcc1 G C 16: 14,231,247 (GRCm39) probably null Het
Atg2a G A 19: 6,300,249 (GRCm39) G686S possibly damaging Het
Atrnl1 A T 19: 57,626,882 (GRCm39) probably null Het
Brd4 T C 17: 32,440,884 (GRCm39) probably benign Het
Camsap3 A G 8: 3,658,242 (GRCm39) E688G probably damaging Het
Cc2d2a T A 5: 43,891,271 (GRCm39) S1402R probably benign Het
Ccnb1 A G 13: 100,922,888 (GRCm39) probably null Het
Cdc42bpb G A 12: 111,292,519 (GRCm39) H339Y probably damaging Het
Ciart T A 3: 95,786,392 (GRCm39) T94S probably benign Het
Col6a5 T A 9: 105,789,674 (GRCm39) K1540* probably null Het
Csmd3 A T 15: 47,574,387 (GRCm39) V1969E probably damaging Het
Dgka T G 10: 128,556,356 (GRCm39) N710T probably damaging Het
Dock6 A G 9: 21,731,666 (GRCm39) V1212A probably benign Het
Dync2i2 A G 2: 29,928,278 (GRCm39) V116A possibly damaging Het
En1 C T 1: 120,531,051 (GRCm39) P97L unknown Het
Esd T A 14: 74,982,102 (GRCm39) F172L probably damaging Het
Gfer C A 17: 24,914,942 (GRCm39) D34Y probably damaging Het
Gm2832 G A 14: 41,001,696 (GRCm39) M68I Het
Hmgcr A G 13: 96,795,418 (GRCm39) S384P probably benign Het
Hsp90aa1 T C 12: 110,660,546 (GRCm39) T299A possibly damaging Het
Igsf10 A G 3: 59,239,122 (GRCm39) M353T probably benign Het
Ino80b T C 6: 83,099,306 (GRCm39) T211A probably benign Het
Lamb2 C A 9: 108,366,687 (GRCm39) T1607K probably benign Het
Lhfpl5 A G 17: 28,801,957 (GRCm39) E218G probably benign Het
Lpo C A 11: 87,707,269 (GRCm39) C248F probably damaging Het
Lrrc3 C T 10: 77,736,825 (GRCm39) D204N probably damaging Het
Mavs C A 2: 131,085,051 (GRCm39) L160I probably benign Het
Morn4 C T 19: 42,066,483 (GRCm39) D35N possibly damaging Het
Mroh8 G A 2: 157,063,183 (GRCm39) H813Y probably benign Het
Myf6 T C 10: 107,330,390 (GRCm39) E59G probably damaging Het
Nhsl3 T A 4: 129,119,201 (GRCm39) E173V probably null Het
Nlrp10 T A 7: 108,524,405 (GRCm39) E358D possibly damaging Het
Odad2 A C 18: 7,211,593 (GRCm39) D760E probably benign Het
Optn T C 2: 5,057,648 (GRCm39) probably null Het
Or12e8 A G 2: 87,188,066 (GRCm39) T93A probably benign Het
Or13a19 T C 7: 139,902,759 (GRCm39) I49T possibly damaging Het
Or1e1d-ps1 T A 11: 73,819,332 (GRCm39) L94* probably null Het
Or1o1 T C 17: 37,717,095 (GRCm39) F219L probably benign Het
Or5g9 T A 2: 85,551,952 (GRCm39) F68I probably damaging Het
Or7g28 T C 9: 19,272,579 (GRCm39) E24G possibly damaging Het
Plxna4 T A 6: 32,169,204 (GRCm39) H1331L probably damaging Het
Poli A T 18: 70,649,920 (GRCm39) M357K possibly damaging Het
Psd4 T G 2: 24,284,555 (GRCm39) C140G possibly damaging Het
Rab3gap1 T A 1: 127,818,835 (GRCm39) probably null Het
Rasa3 T C 8: 13,681,826 (GRCm39) N41S probably benign Het
Rps6kc1 A G 1: 190,532,407 (GRCm39) S532P probably benign Het
S100a3 T A 3: 90,509,747 (GRCm39) probably null Het
Sfrp5 T C 19: 42,190,204 (GRCm39) K83E possibly damaging Het
Slco1a4 T C 6: 141,780,434 (GRCm39) I119V probably benign Het
Snx15 T A 19: 6,170,626 (GRCm39) Q271L probably damaging Het
Sorcs2 C A 5: 36,178,605 (GRCm39) S1128I probably damaging Het
Tbc1d7 A T 13: 43,308,211 (GRCm39) F85I probably damaging Het
Top1mt T A 15: 75,539,297 (GRCm39) Y366F probably damaging Het
Trpv2 C A 11: 62,475,287 (GRCm39) S233R probably benign Het
Vav1 C A 17: 57,586,268 (GRCm39) T24N probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wdfy4 G T 14: 32,686,583 (GRCm39) probably null Het
Wdr3 A G 3: 100,062,313 (GRCm39) S201P probably benign Het
Wfs1 C T 5: 37,124,294 (GRCm39) D866N probably damaging Het
Wnk1 A T 6: 119,942,687 (GRCm39) probably benign Het
Xpot G T 10: 121,438,304 (GRCm39) Q762K probably benign Het
Zfp287 A T 11: 62,605,764 (GRCm39) L370H possibly 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
R4960:Thoc7 UTSW 14 13,953,460 (GRCm38) missense probably benign 0.02
R6496:Thoc7 UTSW 14 13,954,593 (GRCm38) missense possibly damaging 0.95
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'- TTCAACACTGTGGCTGCTG -3'
(R):5'- CTCATTTTGCCTTTGTAACCAGAAC -3'

Sequencing Primer
(F):5'- GCTGACAGCTGACTCTTAATTACTG -3'
(R):5'- GCAATTTTGTCAGAACTTGG -3'
Posted On 2019-05-13