Incidental Mutation 'IGL02090:Borcs8'
ID 279402
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 # IGL02090
Quality Score
Status
Chromosome 8
Chromosomal Location 70592149-70599969 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 70619030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 204 (D204G)
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: D204G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105767
Gene: ENSMUSG00000079033
AA Change: D204G

DomainStartEndE-ValueType
MADS 1 60 3.15e-34 SMART
low complexity region 97 114 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110141
AA Change: D204G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105768
Gene: ENSMUSG00000079033
AA Change: D204G

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: D204G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105770
Gene: ENSMUSG00000079033
AA Change: D204G

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: D204G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105773
Gene: ENSMUSG00000079033
AA Change: D204G

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: D204G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132314
Gene: ENSMUSG00000079033
AA Change: D204G

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 162,968,701 (GRCm39) T482A probably damaging Het
Adh1 T C 3: 137,988,546 (GRCm39) I173T possibly damaging Het
Apoa1 T C 9: 46,140,548 (GRCm39) S60P possibly damaging Het
Blnk A G 19: 40,922,929 (GRCm39) V396A probably benign Het
Calhm5 G A 10: 33,972,261 (GRCm39) P58L probably damaging Het
Cbfa2t2 A G 2: 154,373,336 (GRCm39) probably benign Het
Cdkal1 T G 13: 29,701,493 (GRCm39) I319L probably benign Het
Celsr1 T A 15: 85,791,922 (GRCm39) T2560S possibly damaging Het
Chd8 A G 14: 52,464,691 (GRCm39) probably null Het
Cyp4f39 T C 17: 32,689,932 (GRCm39) probably benign Het
Dnah10 A G 5: 124,866,876 (GRCm39) N2265S probably damaging Het
Dnah5 C T 15: 28,240,187 (GRCm39) probably benign Het
Epgn G A 5: 91,181,816 (GRCm39) G133E probably damaging Het
Fdx2 C A 9: 20,984,766 (GRCm39) V13F probably benign Het
Gabarapl2 A G 8: 112,667,831 (GRCm39) Y25C probably damaging Het
Gigyf1 G A 5: 137,523,826 (GRCm39) probably null Het
Gm6040 G A 8: 21,407,169 (GRCm39) probably benign Het
Gm8229 T C 14: 44,604,054 (GRCm39) L81P unknown Het
Gstz1 A G 12: 87,210,528 (GRCm39) E137G probably benign Het
Htra1 T C 7: 130,538,108 (GRCm39) V36A probably benign Het
Ifnlr1 T C 4: 135,432,578 (GRCm39) V338A probably benign Het
Igsf8 A G 1: 172,140,156 (GRCm39) probably benign Het
Khdc1a T A 1: 21,421,212 (GRCm39) F132L probably benign Het
Kifc3 G A 8: 95,829,108 (GRCm39) S561L probably damaging Het
Mpi T C 9: 57,457,936 (GRCm39) T89A probably benign Het
Ncor2 A T 5: 125,111,467 (GRCm39) M1281K probably damaging Het
Or4c117 T C 2: 88,956,021 (GRCm39) N18S probably benign Het
Or4k49 G T 2: 111,495,333 (GRCm39) C254F probably damaging Het
Or6c213 T A 10: 129,574,181 (GRCm39) I202L probably benign Het
Or6c66b T C 10: 129,377,176 (GRCm39) Y257H probably damaging Het
Otog G A 7: 45,949,571 (GRCm39) G2403D probably damaging Het
Pdgfb C A 15: 79,898,184 (GRCm39) A6S probably benign Het
Pfkm T C 15: 98,021,121 (GRCm39) probably null Het
Plcb4 A G 2: 135,789,041 (GRCm39) M274V probably benign Het
Ppm1m A G 9: 106,074,001 (GRCm39) probably null Het
Rptn A G 3: 93,304,041 (GRCm39) D458G possibly damaging Het
Sertad3 C T 7: 27,175,950 (GRCm39) S128F probably benign Het
Sgo2b A T 8: 64,380,123 (GRCm39) L903Q probably damaging Het
Slc15a5 C T 6: 138,020,598 (GRCm39) R245H probably benign Het
Slc24a5 A T 2: 124,910,218 (GRCm39) T40S probably benign Het
Smchd1 T C 17: 71,738,248 (GRCm39) N539S possibly damaging Het
Tlr11 A G 14: 50,600,489 (GRCm39) D825G probably damaging Het
Top3b T G 16: 16,709,334 (GRCm39) V674G possibly damaging Het
Urb2 G A 8: 124,754,976 (GRCm39) V228I probably benign Het
Usp24 C T 4: 106,268,623 (GRCm39) A2061V possibly damaging Het
Wdr72 C A 9: 74,062,212 (GRCm39) H453N possibly damaging Het
Xkr9 T C 1: 13,771,600 (GRCm39) M372T probably damaging Het
Zc3h12d T G 10: 7,743,096 (GRCm39) S289A probably benign Het
Zfp607b A T 7: 27,398,140 (GRCm39) M75L possibly damaging 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
IGL02178:Borcs8 APN 8 70,617,897 (GRCm39) missense probably damaging 1.00
IGL02690:Borcs8 APN 8 70,617,738 (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