Incidental Mutation 'IGL02213:Borcs6'
ID284763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Borcs6
Ensembl Gene ENSMUSG00000045176
Gene NameBLOC-1 related complex subunit 6
Synonyms2310047M10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02213
Quality Score
Status
Chromosome11
Chromosomal Location69059717-69061578 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69059853 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 19 (E19G)
Ref Sequence ENSEMBL: ENSMUSP00000059143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051888]
Predicted Effect probably benign
Transcript: ENSMUST00000051888
AA Change: E19G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000059143
Gene: ENSMUSG00000045176
AA Change: E19G

DomainStartEndE-ValueType
low complexity region 43 55 N/A INTRINSIC
low complexity region 104 117 N/A INTRINSIC
low complexity region 144 162 N/A INTRINSIC
low complexity region 173 204 N/A INTRINSIC
Pfam:DUF2365 215 358 1.9e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101007
SMART Domains Protein: ENSMUSP00000098570
Gene: ENSMUSG00000072809

DomainStartEndE-ValueType
low complexity region 31 65 N/A INTRINSIC
low complexity region 74 88 N/A INTRINSIC
low complexity region 101 116 N/A INTRINSIC
low complexity region 134 145 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 G A 9: 54,615,970 R458C probably damaging Het
Aldh6a1 T A 12: 84,432,552 probably benign Het
Ankrd13a C T 5: 114,785,968 R42W probably damaging Het
Arhgef17 T C 7: 100,890,426 M73V probably benign Het
Cacna2d2 C T 9: 107,514,048 R425C probably damaging Het
Cap2 T A 13: 46,635,611 probably benign Het
Ccdc146 C T 5: 21,316,904 R374H probably benign Het
Cdk5rap2 A G 4: 70,317,602 probably benign Het
Cyp3a57 A G 5: 145,381,280 D357G probably damaging Het
Dleu7 C T 14: 62,276,955 V193M probably benign Het
Dmxl1 T A 18: 49,877,674 probably benign Het
Dnah7b T A 1: 46,233,592 F2293L probably damaging Het
Fgf22 G T 10: 79,756,615 V75L probably damaging Het
Fras1 C A 5: 96,645,871 C1017* probably null Het
Frmd3 A C 4: 74,135,872 I173L probably benign Het
Fst T C 13: 114,455,854 N109S possibly damaging Het
Greb1 A G 12: 16,706,232 L801P probably damaging Het
Ift88 A G 14: 57,478,045 D515G probably damaging Het
Kcnh7 T C 2: 62,739,362 D730G probably damaging Het
Mbd1 A T 18: 74,275,382 I231F probably damaging Het
Mre11a T A 9: 14,811,884 F358I probably damaging Het
Mroh9 G T 1: 163,058,079 T328K probably damaging Het
Nostrin T C 2: 69,183,918 L406P probably benign Het
Ntrk3 T A 7: 78,462,931 Q159L probably benign Het
Oca2 T C 7: 56,321,484 probably benign Het
Olfr1299 A T 2: 111,664,675 T150S probably benign Het
Olfr474 T C 7: 107,955,304 I221T probably damaging Het
Olfr609 T A 7: 103,492,488 H130L probably benign Het
Pfdn4 C T 2: 170,515,775 Q21* probably null Het
Pkd1l3 T C 8: 109,631,345 F823S probably damaging Het
Rnf212 C T 5: 108,747,410 probably benign Het
Sbspon T C 1: 15,858,926 S214G probably benign Het
Slc12a7 T C 13: 73,797,703 probably null Het
Ugt3a2 A T 15: 9,370,224 M485L probably benign Het
Vav1 T C 17: 57,305,351 V561A possibly damaging Het
Vldlr A G 19: 27,241,326 T485A probably benign Het
Wiz T C 17: 32,367,860 T159A probably benign Het
Other mutations in Borcs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02885:Borcs6 APN 11 69060246 missense possibly damaging 0.85
R4624:Borcs6 UTSW 11 69060597 missense probably damaging 1.00
R5207:Borcs6 UTSW 11 69060848 missense probably damaging 1.00
R7514:Borcs6 UTSW 11 69060584 missense probably damaging 1.00
X0062:Borcs6 UTSW 11 69060359 missense probably benign 0.15
Posted On2015-04-16