Incidental Mutation 'IGL01544:Thoc7'
ID90272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Thoc7
Ensembl Gene ENSMUSG00000053453
Gene NameTHO complex 7
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL01544
Quality Score
Status
Chromosome14
Chromosomal Location13949012-13961852 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 13953435 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 72 (Y72D)
Ref Sequence ENSEMBL: ENSMUSP00000153560 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065865] [ENSMUST00000223832] [ENSMUST00000225325] [ENSMUST00000225891]
Predicted Effect probably damaging
Transcript: ENSMUST00000065865
AA Change: Y81D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065819
Gene: ENSMUSG00000053453
AA Change: Y81D

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 noncoding transcript
Transcript: ENSMUST00000224652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224764
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225317
Predicted Effect probably damaging
Transcript: ENSMUST00000225325
AA Change: Y77D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225401
Predicted Effect unknown
Transcript: ENSMUST00000225559
AA Change: Y63D
Predicted Effect probably damaging
Transcript: ENSMUST00000225891
AA Change: Y72D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226008
Predicted Effect probably benign
Transcript: ENSMUST00000225590
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap3 G A 18: 37,990,836 R377C probably damaging Het
Bbx C A 16: 50,274,777 E59* probably null Het
Cep120 C T 18: 53,685,961 R886H probably benign Het
Cep350 C A 1: 155,953,187 V324L probably damaging Het
Cry1 T A 10: 85,146,496 K329* probably null Het
Dhtkd1 T C 2: 5,913,531 N627S probably benign Het
Dpp8 A T 9: 65,054,988 T437S probably benign Het
Elovl1 G A 4: 118,430,910 probably null Het
Heca A G 10: 17,915,967 Y114H probably damaging Het
Hrh4 A G 18: 13,015,893 N104S probably benign Het
Ift80 T A 3: 68,990,782 K73N probably benign Het
Ina T C 19: 47,015,509 V252A possibly damaging Het
Klhl36 A G 8: 119,870,016 E152G possibly damaging Het
Lamp5 T A 2: 136,069,070 L241Q probably damaging Het
Lrp4 G A 2: 91,477,551 R447H probably damaging Het
Mmp24 G A 2: 155,799,887 G212R probably damaging Het
Mpp3 A G 11: 102,018,659 V191A possibly damaging Het
Mtmr4 A G 11: 87,597,611 probably benign Het
Mynn C A 3: 30,607,705 S312* probably null Het
Neb T A 2: 52,292,905 I1010F possibly damaging Het
Nes T C 3: 87,977,964 S1177P possibly damaging Het
Noct T C 3: 51,248,048 V79A probably damaging Het
Rad1 A G 15: 10,490,379 D114G probably damaging Het
Slc26a9 T C 1: 131,759,495 probably null Het
Sqor G A 2: 122,792,346 probably benign Het
Sspo G T 6: 48,491,019 W4309L probably damaging Het
Thra A G 11: 98,756,928 I43V possibly damaging Het
Timm44 G T 8: 4,275,888 probably benign Het
Trmo C T 4: 46,386,169 G119R probably damaging Het
Trpc4 T C 3: 54,302,146 M644T probably damaging Het
Wdr72 C T 9: 74,148,725 L300F probably damaging Het
Wrn T C 8: 33,324,526 T54A probably benign Het
Other mutations in Thoc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02630:Thoc7 APN 14 13953154 missense probably damaging 0.99
IGL02737:Thoc7 APN 14 13953443 missense possibly damaging 0.66
R0526:Thoc7 UTSW 14 13949282 missense probably benign 0.00
R4917:Thoc7 UTSW 14 13953154 missense probably damaging 0.99
R4918:Thoc7 UTSW 14 13953154 missense probably damaging 0.99
R4960:Thoc7 UTSW 14 13953460 missense probably benign 0.02
R6496:Thoc7 UTSW 14 13954593 missense possibly damaging 0.95
R7024:Thoc7 UTSW 14 13953528 missense probably damaging 0.98
R7500:Thoc7 UTSW 14 13951204 critical splice donor site probably null
R7619:Thoc7 UTSW 14 13961819 start gained probably null
Z1177:Thoc7 UTSW 14 13954585 missense probably benign
Posted On2013-12-03