Incidental Mutation 'IGL02213:Borcs6'
ID 284763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Borcs6
Ensembl Gene ENSMUSG00000045176
Gene Name BLOC-1 related complex subunit 6
Synonyms 2310047M10Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02213
Quality Score
Status
Chromosome 11
Chromosomal Location 68950601-68952402 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68950679 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D6W8
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: 54,523,254 (GRCm39) R458C probably damaging Het
Aldh6a1 T A 12: 84,479,326 (GRCm39) probably benign Het
Ankrd13a C T 5: 114,924,029 (GRCm39) R42W probably damaging Het
Arhgef17 T C 7: 100,539,633 (GRCm39) M73V probably benign Het
Cacna2d2 C T 9: 107,391,247 (GRCm39) R425C probably damaging Het
Cap2 T A 13: 46,789,087 (GRCm39) probably benign Het
Ccdc146 C T 5: 21,521,902 (GRCm39) R374H probably benign Het
Cdk5rap2 A G 4: 70,235,839 (GRCm39) probably benign Het
Cyp3a57 A G 5: 145,318,090 (GRCm39) D357G probably damaging Het
Dleu7 C T 14: 62,514,404 (GRCm39) V193M probably benign Het
Dmxl1 T A 18: 50,010,741 (GRCm39) probably benign Het
Dnah7b T A 1: 46,272,752 (GRCm39) F2293L probably damaging Het
Fgf22 G T 10: 79,592,449 (GRCm39) V75L probably damaging Het
Fras1 C A 5: 96,793,730 (GRCm39) C1017* probably null Het
Frmd3 A C 4: 74,054,109 (GRCm39) I173L probably benign Het
Fst T C 13: 114,592,390 (GRCm39) N109S possibly damaging Het
Greb1 A G 12: 16,756,233 (GRCm39) L801P probably damaging Het
Ift88 A G 14: 57,715,502 (GRCm39) D515G probably damaging Het
Kcnh7 T C 2: 62,569,706 (GRCm39) D730G probably damaging Het
Mbd1 A T 18: 74,408,453 (GRCm39) I231F probably damaging Het
Mre11a T A 9: 14,723,180 (GRCm39) F358I probably damaging Het
Mroh9 G T 1: 162,885,648 (GRCm39) T328K probably damaging Het
Nostrin T C 2: 69,014,262 (GRCm39) L406P probably benign Het
Ntrk3 T A 7: 78,112,679 (GRCm39) Q159L probably benign Het
Oca2 T C 7: 55,971,232 (GRCm39) probably benign Het
Or4k49 A T 2: 111,495,020 (GRCm39) T150S probably benign Het
Or51af1 T A 7: 103,141,695 (GRCm39) H130L probably benign Het
Or5p54 T C 7: 107,554,511 (GRCm39) I221T probably damaging Het
Pfdn4 C T 2: 170,357,695 (GRCm39) Q21* probably null Het
Pkd1l3 T C 8: 110,357,977 (GRCm39) F823S probably damaging Het
Rnf212 C T 5: 108,895,276 (GRCm39) probably benign Het
Sbspon T C 1: 15,929,150 (GRCm39) S214G probably benign Het
Slc12a7 T C 13: 73,945,822 (GRCm39) probably null Het
Ugt3a1 A T 15: 9,370,310 (GRCm39) M485L probably benign Het
Vav1 T C 17: 57,612,351 (GRCm39) V561A possibly damaging Het
Vldlr A G 19: 27,218,726 (GRCm39) T485A probably benign Het
Wiz T C 17: 32,586,834 (GRCm39) T159A probably benign Het
Other mutations in Borcs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02885:Borcs6 APN 11 68,951,072 (GRCm39) missense possibly damaging 0.85
R4624:Borcs6 UTSW 11 68,951,423 (GRCm39) missense probably damaging 1.00
R5207:Borcs6 UTSW 11 68,951,674 (GRCm39) missense probably damaging 1.00
R7514:Borcs6 UTSW 11 68,951,410 (GRCm39) missense probably damaging 1.00
R8246:Borcs6 UTSW 11 68,951,377 (GRCm39) missense probably benign 0.06
R8306:Borcs6 UTSW 11 68,950,646 (GRCm39) missense probably benign
R8984:Borcs6 UTSW 11 68,950,828 (GRCm39) missense probably benign 0.00
X0062:Borcs6 UTSW 11 68,951,185 (GRCm39) missense probably benign 0.15
Z1186:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1187:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1188:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1189:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1190:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1191:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Z1192:Borcs6 UTSW 11 68,951,453 (GRCm39) missense possibly damaging 0.72
Posted On 2015-04-16