Incidental Mutation 'R8246:Borcs6'
ID 640770
Institutional Source Beutler Lab
Gene Symbol Borcs6
Ensembl Gene ENSMUSG00000045176
Gene Name BLOC-1 related complex subunit 6
Synonyms 2310047M10Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8246 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69059717-69061578 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 69060551 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 252 (P252S)
Ref Sequence ENSEMBL: ENSMUSP00000059143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051888]
AlphaFold Q9D6W8
Predicted Effect probably benign
Transcript: ENSMUST00000051888
AA Change: P252S

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000059143
Gene: ENSMUSG00000045176
AA Change: P252S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik T C 5: 9,446,966 V810A probably benign Het
Alpk3 C A 7: 81,092,776 D780E probably benign Het
Anln A C 9: 22,350,955 S947A probably benign Het
Ccdc109b C A 3: 129,915,165 V328L probably benign Het
Ccdc42 C A 11: 68,587,296 Q28K probably benign Het
Cp A G 3: 19,975,022 I554M probably damaging Het
Dnm3 T G 1: 162,307,917 D429A probably damaging Het
Dok5 A G 2: 170,800,893 K37R probably benign Het
Dtwd2 A T 18: 49,698,425 Y268N probably benign Het
Eif3a T C 19: 60,779,368 E244G probably damaging Het
Fam149a T C 8: 45,381,618 E48G probably benign Het
Fam160a2 T C 7: 105,389,660 E124G probably damaging Het
Fam186a T A 15: 99,940,547 E2605D unknown Het
Fyn T A 10: 39,529,529 W264R probably damaging Het
Gm10024 T A 10: 77,711,535 S27T unknown Het
Gm156 A G 6: 129,775,376 probably benign Het
Gpr157 C T 4: 150,102,296 L294F possibly damaging Het
Kif6 C T 17: 49,758,514 Q506* probably null Het
Loxhd1 A G 18: 77,363,546 K707R possibly damaging Het
Mdn1 C T 4: 32,657,284 P12S probably benign Het
Mrgprb3 T G 7: 48,643,520 L94F probably benign Het
Mycbp2 G T 14: 103,155,204 P3307Q probably damaging Het
Nol8 T G 13: 49,655,248 probably benign Het
Olfr1308 T C 2: 111,960,138 I312V probably benign Het
Olfr744 A G 14: 50,618,384 Y54C probably benign Het
Pax5 T C 4: 44,570,027 H286R probably benign Het
Rmdn2 T A 17: 79,672,537 C381* probably null Het
Rpusd4 A G 9: 35,272,580 I202V probably benign Het
Shank3 A T 15: 89,533,346 R49W possibly damaging Het
Smurf2 T C 11: 106,831,044 T542A probably benign Het
Sorcs2 G A 5: 36,062,588 R371C probably damaging Het
Sqstm1 T C 11: 50,210,561 H66R probably damaging Het
Stard8 C T X: 99,065,964 S155L probably benign Het
Svep1 A T 4: 58,091,889 V1582D probably damaging Het
Tecrl T C 5: 83,279,309 M331V probably damaging Het
Tinf2 T C 14: 55,679,585 S368G probably damaging Het
Tmem184c A T 8: 77,610,185 I14N probably damaging Het
Ttc28 G A 5: 111,233,341 D1240N probably benign Het
Ulk4 T C 9: 121,156,875 *911W probably null Het
Unc13b T C 4: 43,175,954 F2261L unknown Het
Vps16 G C 2: 130,438,873 G241R probably damaging Het
Ythdc1 C T 5: 86,817,322 T292I possibly damaging Het
Other mutations in Borcs6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02213:Borcs6 APN 11 69059853 missense probably benign
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
R8306:Borcs6 UTSW 11 69059820 missense probably benign
R8984:Borcs6 UTSW 11 69060002 missense probably benign 0.00
X0062:Borcs6 UTSW 11 69060359 missense probably benign 0.15
Z1186:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1187:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1188:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1189:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1190:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1191:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Z1192:Borcs6 UTSW 11 69060627 missense possibly damaging 0.72
Predicted Primers PCR Primer
(F):5'- TCTTCATCCAGTGGCGAGAC -3'
(R):5'- CTTAATGCTCATGTCCACGGC -3'

Sequencing Primer
(F):5'- GCGACCTTACTCACTTTG -3'
(R):5'- ATGTCCACGGCTTCACCTAAGG -3'
Posted On 2020-07-28