Incidental Mutation 'IGL02256:BC005561'
ID286580
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol BC005561
Ensembl Gene ENSMUSG00000079065
Gene NamecDNA sequence BC005561
Synonyms
Accession Numbers

Genbank: NM_001166581; MGI: 3040669

Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #IGL02256
Quality Score
Status
Chromosome5
Chromosomal Location104508352-104522611 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 104520283 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 890 (Y890*)
Ref Sequence ENSEMBL: ENSMUSP00000130629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096452]
Predicted Effect probably null
Transcript: ENSMUST00000096452
AA Change: Y890*
SMART Domains Protein: ENSMUSP00000130629
Gene: ENSMUSG00000079065
AA Change: Y890*

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 T A 2: 91,769,054 V173E possibly damaging Het
BC037034 C A 5: 138,260,315 D557Y probably damaging Het
Dennd4c A G 4: 86,799,541 T592A probably damaging Het
Dhcr24 G A 4: 106,572,320 G197S probably damaging Het
Fat1 A G 8: 44,950,332 Y40C probably damaging Het
Fbxl17 A C 17: 63,499,090 C310G probably benign Het
Hdac10 T C 15: 89,125,894 probably benign Het
Hist1h2bg G T 13: 23,571,435 M1I probably null Het
Mcm6 A G 1: 128,335,728 probably null Het
Mrpl19 G A 6: 81,964,319 T87I probably benign Het
Mzf1 A G 7: 13,052,737 probably benign Het
Nhlrc2 A G 19: 56,597,361 E676G probably benign Het
Notch3 T C 17: 32,132,324 D1899G probably damaging Het
Nxph1 A G 6: 9,247,185 D52G probably benign Het
Olfr134 G T 17: 38,175,686 V201L probably benign Het
Olfr171 T C 16: 19,625,006 I31M probably benign Het
Olfr418 A T 1: 173,270,627 I151F probably benign Het
Olfr913 G A 9: 38,594,544 V108I probably benign Het
Olfr918 A T 9: 38,673,480 M1K probably null Het
Olfr980 A G 9: 40,006,053 F299L probably benign Het
Pax6 T C 2: 105,684,770 V54A probably benign Het
Pbx1 A T 1: 168,183,602 H376Q possibly damaging Het
Prpf4b T A 13: 34,899,878 C877S probably damaging Het
Robo3 A G 9: 37,425,353 L373P probably damaging Het
Samd9l G A 6: 3,376,197 R355W probably damaging Het
Smarce1 A T 11: 99,219,380 N127K possibly damaging Het
Sptbn1 T C 11: 30,120,990 I1511V probably benign Het
Stab1 C T 14: 31,141,592 R2071H probably damaging Het
Svep1 A T 4: 58,070,311 C2492S possibly damaging Het
Tbr1 C A 2: 61,804,874 T56N probably damaging Het
Tlr6 T C 5: 64,954,944 T207A probably benign Het
Tmem241 A G 18: 12,113,432 W54R probably damaging Het
Tmem87a A G 2: 120,377,896 V326A probably damaging Het
Uroc1 A G 6: 90,346,687 D372G possibly damaging Het
Zc3h7a A C 16: 11,147,276 S664R probably benign Het
Other mutations in BC005561
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:BC005561 APN 5 104520500 missense probably damaging 1.00
IGL01024:BC005561 APN 5 104521746 missense probably benign 0.02
IGL01133:BC005561 APN 5 104517662 missense probably benign
IGL01564:BC005561 APN 5 104520663 missense probably benign 0.12
IGL01727:BC005561 APN 5 104519513 missense probably benign 0.01
IGL02086:BC005561 APN 5 104519001 missense possibly damaging 0.49
IGL02153:BC005561 APN 5 104521083 missense probably benign 0.02
IGL02436:BC005561 APN 5 104521155 missense probably benign 0.10
IGL02969:BC005561 APN 5 104519343 missense probably benign 0.01
IGL03275:BC005561 APN 5 104518277 missense probably benign 0.00
IGL03357:BC005561 APN 5 104520468 missense probably damaging 1.00
F2404:BC005561 UTSW 5 104520230 missense possibly damaging 0.83
R0318:BC005561 UTSW 5 104517753 missense probably benign 0.00
R0349:BC005561 UTSW 5 104519976 missense possibly damaging 0.85
R0454:BC005561 UTSW 5 104518211 missense probably benign 0.45
R0742:BC005561 UTSW 5 104522154 missense probably benign 0.00
R0842:BC005561 UTSW 5 104519200 missense possibly damaging 0.81
R0882:BC005561 UTSW 5 104519009 missense probably benign 0.05
R1123:BC005561 UTSW 5 104518470 missense probably damaging 1.00
R1171:BC005561 UTSW 5 104520903 missense possibly damaging 0.49
R1205:BC005561 UTSW 5 104520213 missense probably benign 0.28
R1261:BC005561 UTSW 5 104520635 missense probably damaging 0.98
R1432:BC005561 UTSW 5 104518104 missense probably damaging 1.00
R1447:BC005561 UTSW 5 104522204 missense possibly damaging 0.89
R1466:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1466:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1584:BC005561 UTSW 5 104518257 missense probably damaging 0.99
R1636:BC005561 UTSW 5 104520750 missense probably damaging 0.99
R1686:BC005561 UTSW 5 104519923 nonsense probably null
R1698:BC005561 UTSW 5 104520510 missense probably benign 0.09
R1816:BC005561 UTSW 5 104517834 missense probably benign 0.16
R1903:BC005561 UTSW 5 104518330 missense probably benign 0.00
R2096:BC005561 UTSW 5 104519969 missense possibly damaging 0.95
R2146:BC005561 UTSW 5 104518991 missense probably benign
R2226:BC005561 UTSW 5 104519420 missense probably damaging 1.00
R2227:BC005561 UTSW 5 104519420 missense probably damaging 1.00
R2383:BC005561 UTSW 5 104518988 missense probably benign 0.23
R2656:BC005561 UTSW 5 104519315 missense probably benign 0.05
R3982:BC005561 UTSW 5 104521023 missense probably benign 0.29
R3983:BC005561 UTSW 5 104521023 missense probably benign 0.29
R4115:BC005561 UTSW 5 104519433 missense probably damaging 1.00
R4345:BC005561 UTSW 5 104521449 missense probably benign 0.21
R4697:BC005561 UTSW 5 104522240 missense probably benign 0.00
R4711:BC005561 UTSW 5 104519661 missense probably damaging 0.98
R4742:BC005561 UTSW 5 104518857 missense probably benign 0.17
R4758:BC005561 UTSW 5 104520399 missense possibly damaging 0.48
R4863:BC005561 UTSW 5 104517750 missense possibly damaging 0.89
R4867:BC005561 UTSW 5 104521002 missense possibly damaging 0.91
R5024:BC005561 UTSW 5 104522258 missense possibly damaging 0.68
R5114:BC005561 UTSW 5 104519876 missense probably damaging 0.99
R5117:BC005561 UTSW 5 104520255 missense probably damaging 1.00
R5289:BC005561 UTSW 5 104519657 missense probably benign 0.03
R5341:BC005561 UTSW 5 104518076 missense probably damaging 1.00
R5420:BC005561 UTSW 5 104518359 missense probably damaging 0.99
R5421:BC005561 UTSW 5 104518395 missense probably benign 0.01
R5422:BC005561 UTSW 5 104519646 missense probably damaging 0.98
R5606:BC005561 UTSW 5 104521878 missense probably benign 0.00
R5939:BC005561 UTSW 5 104519207 missense possibly damaging 0.56
R6104:BC005561 UTSW 5 104518218 missense probably damaging 1.00
R6169:BC005561 UTSW 5 104518396 missense probably benign 0.00
R6316:BC005561 UTSW 5 104519729 missense probably damaging 1.00
R6352:BC005561 UTSW 5 104520198 missense probably benign 0.11
R6408:BC005561 UTSW 5 104518777 missense probably benign 0.19
R6458:BC005561 UTSW 5 104522303 missense probably benign 0.02
R6722:BC005561 UTSW 5 104520279 missense probably damaging 0.99
R6789:BC005561 UTSW 5 104517689 missense probably benign 0.00
R7214:BC005561 UTSW 5 104522363 missense probably benign
R7494:BC005561 UTSW 5 104518418 missense possibly damaging 0.90
Posted On2015-04-16