Incidental Mutation 'R5622:Borcs5'
ID441627
Institutional Source Beutler Lab
Gene Symbol Borcs5
Ensembl Gene ENSMUSG00000042992
Gene NameBLOC-1 related complex subunit 5
Synonyms5830457J20Rik, Loh12cr1
MMRRC Submission 043161-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.876) question?
Stock #R5622 (G1)
Quality Score222
Status Validated
Chromosome6
Chromosomal Location134639510-134711187 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 134686123 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062755] [ENSMUST00000062755] [ENSMUST00000166591] [ENSMUST00000166591]
Predicted Effect probably null
Transcript: ENSMUST00000062755
SMART Domains Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992

DomainStartEndE-ValueType
Pfam:LOH1CR12 61 191 7.9e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000062755
SMART Domains Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992

DomainStartEndE-ValueType
Pfam:LOH1CR12 61 191 7.9e-65 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166591
SMART Domains Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992

DomainStartEndE-ValueType
Pfam:LOH1CR12 62 192 5.7e-63 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166591
SMART Domains Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992

DomainStartEndE-ValueType
Pfam:LOH1CR12 62 192 5.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203234
Meta Mutation Damage Score 0.9498 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A T 17: 24,327,668 S320T probably benign Het
Alg8 T A 7: 97,386,799 probably benign Het
Anp32b G A 4: 46,469,930 E202K unknown Het
Apcdd1 A G 18: 62,936,902 probably null Het
Apobec2 A G 17: 48,423,416 V74A possibly damaging Het
Arid3c A T 4: 41,729,959 C79S probably benign Het
Atp1a2 A T 1: 172,291,427 probably benign Het
B2m A T 2: 122,150,990 N62I probably damaging Het
Cdk11b A G 4: 155,630,217 K127E probably damaging Het
Cep170 T C 1: 176,735,867 H726R possibly damaging Het
Col5a2 A C 1: 45,427,059 S190A probably benign Het
Cryba4 T C 5: 112,251,124 D5G probably damaging Het
Cyp2a5 T G 7: 26,835,874 V87G probably damaging Het
Cyr61 A G 3: 145,649,320 L60P probably damaging Het
Dcaf8 A G 1: 172,186,398 probably benign Het
Dchs1 A G 7: 105,755,293 S2681P probably benign Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Deptor T A 15: 55,181,032 I198N probably damaging Het
Ebf2 T C 14: 67,390,558 I334T possibly damaging Het
F5 A G 1: 164,192,565 R870G probably benign Het
Flg2 A C 3: 93,202,564 H633P unknown Het
Gm11938 T A 11: 99,603,293 probably null Het
Gm5771 A C 6: 41,396,150 N119H probably damaging Het
Gm6370 A G 5: 146,493,898 T298A probably benign Het
Gm9825 C T 6: 7,982,605 noncoding transcript Het
H60b C A 10: 22,283,542 probably benign Het
Hsbp1 A G 8: 119,344,585 T4A possibly damaging Het
Hsd3b3 A T 3: 98,742,208 D266E possibly damaging Het
Ift172 T C 5: 31,283,082 Y287C probably damaging Het
Il20rb T A 9: 100,486,318 Q4L probably benign Het
Krt5 T C 15: 101,709,035 D421G probably damaging Het
Lonp1 G C 17: 56,620,263 A330G probably benign Het
Me3 A G 7: 89,796,663 D196G probably damaging Het
Mfsd12 T A 10: 81,363,627 V451E probably null Het
Mib1 A G 18: 10,794,503 N663S possibly damaging Het
Mtus2 A T 5: 148,078,434 N679I probably benign Het
Myt1 A G 2: 181,797,122 T146A probably benign Het
Neb T A 2: 52,270,269 H2244L probably damaging Het
Olfr1444 A C 19: 12,862,299 I175L probably benign Het
Olfr510 C T 7: 108,668,082 T222I probably benign Het
Olfr630 T C 7: 103,755,169 T139A probably damaging Het
Pabpc4 A G 4: 123,291,731 probably null Het
Padi1 C A 4: 140,824,955 V393L probably damaging Het
Pax2 A T 19: 44,818,466 D300V probably damaging Het
Pcgf2 T C 11: 97,690,252 E71G probably damaging Het
Pi4kb A G 3: 94,998,861 Q573R possibly damaging Het
Pitpna T A 11: 75,620,327 M242K possibly damaging Het
Pkd1 A G 17: 24,574,040 E1567G possibly damaging Het
Plcb2 A T 2: 118,714,729 S630R probably damaging Het
Prrt2 A T 7: 127,019,765 V176D probably benign Het
Prss42 T C 9: 110,799,422 probably null Het
Rhoq A G 17: 86,997,031 R197G probably benign Het
Rin2 A T 2: 145,860,379 T332S probably benign Het
Rp1 A T 1: 4,347,837 N1017K possibly damaging Het
Setbp1 T A 18: 78,857,485 Y989F probably damaging Het
Slc11a1 G A 1: 74,380,906 G191D probably damaging Het
Slc35f5 G A 1: 125,589,956 R497Q probably damaging Het
Slf1 T C 13: 77,049,971 K728R probably benign Het
Tiparp T G 3: 65,547,525 S364A probably benign Het
Tph1 G A 7: 46,647,545 Q409* probably null Het
Trp73 A T 4: 154,060,592 I526N possibly damaging Het
Ttc9c G A 19: 8,815,968 R103* probably null Het
Vmn2r75 T A 7: 86,148,494 I704F probably benign Het
Wdr76 A G 2: 121,517,735 R63G probably damaging Het
Zc3h3 T A 15: 75,777,079 S735C probably damaging Het
Zfp383 G A 7: 29,912,190 V32M probably damaging Het
Zfp810 T A 9: 22,279,096 Y172F probably benign Het
Other mutations in Borcs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1174:Borcs5 UTSW 6 134710133 missense probably damaging 1.00
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
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
R8944:Borcs5 UTSW 6 134644474 critical splice donor site probably null
Z1176:Borcs5 UTSW 6 134710123 missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- CTCCTCTAAAGGGCTCTTGAG -3'
(R):5'- ACACACTAACAGCCGTGGAG -3'

Sequencing Primer
(F):5'- GCTCTTGAGTGGACAGACTTCC -3'
(R):5'- AATGCTGGACCACTACCCGG -3'
Posted On2016-11-08