Incidental Mutation 'IGL02690:Borcs8'
ID 303706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Borcs8
Ensembl Gene ENSMUSG00000002345
Gene Name BLOC-1 related complex subunit 8
Synonyms 2310045N01Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # IGL02690
Quality Score
Status
Chromosome 8
Chromosomal Location 70592149-70599969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 70617738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 32 (A32D)
Ref Sequence ENSEMBL: ENSMUSP00000132314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110140] [ENSMUST00000110141] [ENSMUST00000110143] [ENSMUST00000110146] [ENSMUST00000163756]
AlphaFold Q9D6Y4
Predicted Effect probably damaging
Transcript: ENSMUST00000110140
AA Change: A32D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: A32D

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110141
AA Change: A32D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: A32D

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110143
AA Change: A32D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: A32D

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 275 287 N/A INTRINSIC
low complexity region 310 325 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110146
AA Change: A32D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: A32D

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000163756
AA Change: A32D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: A32D

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
low complexity region 285 297 N/A INTRINSIC
low complexity region 320 335 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,787,921 (GRCm39) V896A probably damaging Het
Ahnak C A 19: 8,989,948 (GRCm39) S3744* probably null Het
Aldh7a1 A G 18: 56,661,427 (GRCm39) probably benign Het
Ankk1 T A 9: 49,333,200 (GRCm39) I95F probably damaging Het
Ccn3 A G 15: 54,611,198 (GRCm39) Y111C probably damaging Het
Cdh1 T A 8: 107,384,516 (GRCm39) I328N probably damaging Het
Cebpz C T 17: 79,229,986 (GRCm39) D856N probably damaging Het
Clip2 T A 5: 134,539,013 (GRCm39) probably benign Het
Dock7 C A 4: 98,857,872 (GRCm39) V1451F possibly damaging Het
Edem3 T G 1: 151,680,550 (GRCm39) C558W probably damaging Het
Eif3f T C 7: 108,533,925 (GRCm39) V96A probably damaging Het
Gen1 A G 12: 11,291,576 (GRCm39) S738P probably damaging Het
Ipo8 A T 6: 148,678,861 (GRCm39) S912R probably benign Het
Kcp G T 6: 29,484,998 (GRCm39) probably benign Het
Larp7-ps T A 4: 92,079,248 (GRCm39) D191V probably damaging Het
Lrrfip1 A G 1: 90,981,383 (GRCm39) T2A probably damaging Het
Lyst A G 13: 13,815,710 (GRCm39) E1198G possibly damaging Het
Maml1 A G 11: 50,149,457 (GRCm39) L761P probably damaging Het
Mon2 T A 10: 122,845,532 (GRCm39) E1392V possibly damaging Het
Nol12 A G 15: 78,821,374 (GRCm39) E78G probably damaging Het
Or13c7b G A 4: 43,821,190 (GRCm39) T57M possibly damaging Het
Or5k17 G A 16: 58,746,214 (GRCm39) T240I possibly damaging Het
Rag2 A T 2: 101,459,839 (GRCm39) I50L probably benign Het
Rasgrf2 T C 13: 92,167,273 (GRCm39) N267D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rsc1a1 A T 4: 141,412,612 (GRCm39) V100D probably damaging Het
Rtp1 T C 16: 23,250,132 (GRCm39) Y166H probably damaging Het
Scly A T 1: 91,233,047 (GRCm39) T109S probably benign Het
Scn8a A T 15: 100,868,135 (GRCm39) S327C probably damaging Het
Sgsm1 T C 5: 113,434,633 (GRCm39) probably benign Het
Slc4a9 A G 18: 36,665,040 (GRCm39) Y463C probably damaging Het
Speer1j C T 5: 11,555,228 (GRCm39) Q66* probably null Het
Sptan1 A G 2: 29,888,195 (GRCm39) M936V possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tbx20 T A 9: 24,685,033 (GRCm39) N37Y probably benign Het
Tent4a T A 13: 69,658,744 (GRCm39) M364L probably benign Het
Tex14 C T 11: 87,377,100 (GRCm39) T148I probably benign Het
Ubxn7 A G 16: 32,200,423 (GRCm39) E371G probably benign Het
Ugt2b35 T C 5: 87,149,096 (GRCm39) F116L probably benign Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,003,091 (GRCm39) L167P probably benign Het
Vps13b T C 15: 35,917,288 (GRCm39) W3711R probably damaging Het
Wdr5 A T 2: 27,424,840 (GRCm39) T326S probably benign Het
Other mutations in Borcs8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00583:Borcs8 APN 8 70,597,757 (GRCm39) missense probably benign 0.00
IGL01311:Borcs8 APN 8 70,617,818 (GRCm39) missense probably damaging 1.00
IGL02090:Borcs8 APN 8 70,619,030 (GRCm39) missense probably damaging 1.00
IGL02178:Borcs8 APN 8 70,617,897 (GRCm39) missense probably damaging 1.00
R0015:Borcs8 UTSW 8 70,593,017 (GRCm39) unclassified probably benign
R5061:Borcs8 UTSW 8 70,593,008 (GRCm39) critical splice donor site probably null
R9269:Borcs8 UTSW 8 70,594,521 (GRCm39) missense probably benign 0.31
Z1176:Borcs8 UTSW 8 70,594,621 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16