Incidental Mutation 'R1174:Borcs5'
ID99811
Institutional Source Beutler Lab
Gene Symbol Borcs5
Ensembl Gene ENSMUSG00000042992
Gene NameBLOC-1 related complex subunit 5
Synonyms5830457J20Rik, Loh12cr1
MMRRC Submission 039247-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.898) question?
Stock #R1174 (G1)
Quality Score91
Status Not validated
Chromosome6
Chromosomal Location134639510-134711187 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 134710133 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 150 (N150K)
Ref Sequence ENSEMBL: ENSMUSP00000054913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062755] [ENSMUST00000166591]
Predicted Effect probably damaging
Transcript: ENSMUST00000062755
AA Change: N150K

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: N150K

DomainStartEndE-ValueType
Pfam:LOH1CR12 61 191 7.9e-65 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166591
AA Change: N151K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: N151K

DomainStartEndE-ValueType
Pfam:LOH1CR12 62 192 5.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204133
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 17,117,582 H214L probably benign Het
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Actn3 A G 19: 4,864,756 L477P probably damaging Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Alpk1 T A 3: 127,680,810 S515C probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cox4i1 C A 8: 120,674,050 N151K probably benign Het
Cpeb4 T C 11: 31,920,472 L432P probably damaging Het
Dnajb11 T A 16: 22,870,673 D281E probably damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Fes A T 7: 80,377,951 I815N probably damaging Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm10093 A T 17: 78,492,078 Y166F probably benign Het
Gm1818 A G 12: 48,556,199 noncoding transcript Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Klf6 A G 13: 5,861,712 D25G probably benign Het
Laptm4a T C 12: 8,936,716 V258A probably damaging Het
Lypd6b C T 2: 49,943,597 A83V possibly damaging Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Mfsd13a T A 19: 46,374,686 I511N probably benign Het
Mrm3 T C 11: 76,250,024 V286A probably damaging Het
Muc6 C T 7: 141,648,101 G708S probably damaging Het
Neurl4 T C 11: 69,903,721 probably null Het
Pclo T C 5: 14,677,646 probably benign Het
Pcnt A T 10: 76,393,044 probably null Het
Pik3r4 G T 9: 105,663,174 G754C probably damaging Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Rgs12 T A 5: 34,966,465 C531S probably benign Het
Rin1 C A 19: 5,055,203 Q764K probably benign Het
Robo4 C T 9: 37,413,052 R959W probably damaging Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Serpinb9d C T 13: 33,200,625 P195L probably benign Het
Sos1 A C 17: 80,445,608 Y323* probably null Het
Ssxb8 T G X: 8,689,823 H88P probably damaging Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Tas2r140 T C 6: 133,054,871 E308G probably benign Het
Tdo2 A T 3: 81,974,376 S40R probably damaging Het
Tle4 C T 19: 14,468,262 V207I probably benign Het
Txlnb A G 10: 17,842,756 N445S probably benign Het
Ubap2l A T 3: 90,023,500 S413T probably benign Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vwa1 C T 4: 155,773,266 G25D probably damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Other mutations in Borcs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1175:Borcs5 UTSW 6 134710133 missense probably damaging 1.00
R1290:Borcs5 UTSW 6 134644368 missense possibly damaging 0.63
R1951:Borcs5 UTSW 6 134710267 missense unknown
R1953:Borcs5 UTSW 6 134710267 missense unknown
R1972:Borcs5 UTSW 6 134710174 missense probably damaging 0.99
R4378:Borcs5 UTSW 6 134644329 missense probably benign
R5622:Borcs5 UTSW 6 134686123 critical splice donor site probably null
R6543:Borcs5 UTSW 6 134710180 missense probably damaging 1.00
R6899:Borcs5 UTSW 6 134710210 missense probably benign 0.00
R7313:Borcs5 UTSW 6 134710180 missense probably damaging 1.00
R7405:Borcs5 UTSW 6 134685982 missense probably benign 0.09
R7555:Borcs5 UTSW 6 134685979 missense probably benign 0.01
R8219:Borcs5 UTSW 6 134644350 missense probably benign 0.01
Z1176:Borcs5 UTSW 6 134710123 missense probably benign 0.34
Predicted Primers
Posted On2014-01-15