Incidental Mutation 'R6899:Borcs5'
ID 541014
Institutional Source Beutler Lab
Gene Symbol Borcs5
Ensembl Gene ENSMUSG00000042992
Gene Name BLOC-1 related complex subunit 5
Synonyms 5830457J20Rik, Loh12cr1
MMRRC Submission 044993-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R6899 (G1)
Quality Score 192.009
Status Validated
Chromosome 6
Chromosomal Location 134616475-134688147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134687173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 177 (M177K)
Ref Sequence ENSEMBL: ENSMUSP00000127413 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062755] [ENSMUST00000166591]
AlphaFold Q9D920
Predicted Effect probably benign
Transcript: ENSMUST00000062755
AA Change: M176K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: M176K

DomainStartEndE-ValueType
Pfam:LOH1CR12 61 191 7.9e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166591
AA Change: M177K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: M177K

DomainStartEndE-ValueType
Pfam:LOH1CR12 62 192 5.7e-63 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 95.9%
Validation Efficiency 98% (56/57)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,126,264 (GRCm39) Y1140C probably damaging Het
Actl9 G A 17: 33,652,533 (GRCm39) G198S probably damaging Het
Adcy2 A T 13: 69,130,500 (GRCm39) M129K probably damaging Het
Apmap T A 2: 150,436,228 (GRCm39) I107F probably benign Het
Arrdc3 T C 13: 81,037,330 (GRCm39) I162T probably damaging Het
Asprv1 T C 6: 86,605,742 (GRCm39) L196P probably damaging Het
Atpsckmt A G 15: 31,617,257 (GRCm39) S163G probably benign Het
Bag2 A G 1: 33,785,912 (GRCm39) S137P possibly damaging Het
C8b A T 4: 104,644,071 (GRCm39) K246M probably benign Het
Cdo1 A G 18: 46,856,407 (GRCm39) C76R probably damaging Het
Ces2b T A 8: 105,563,398 (GRCm39) probably null Het
Csf2rb G A 15: 78,224,902 (GRCm39) S194N probably benign Het
Dap3 A G 3: 88,840,907 (GRCm39) F77L probably benign Het
Dars1 A G 1: 128,341,483 (GRCm39) V44A possibly damaging Het
Dhtkd1 T A 2: 5,922,776 (GRCm39) D461V possibly damaging Het
Ero1a A C 14: 45,530,396 (GRCm39) H345Q probably benign Het
Fzd8 T A 18: 9,214,729 (GRCm39) S604T probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gramd1c T A 16: 43,860,505 (GRCm39) Y64F probably benign Het
Heatr5b T A 17: 79,110,938 (GRCm39) Y970F probably benign Het
Hoxc10 A G 15: 102,875,942 (GRCm39) E217G possibly damaging Het
Hsd17b14 A T 7: 45,212,352 (GRCm39) H128L possibly damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ifna9 A G 4: 88,510,300 (GRCm39) F108S probably damaging Het
Ikbke A G 1: 131,203,499 (GRCm39) V58A probably damaging Het
Inpp5e G A 2: 26,290,060 (GRCm39) R462C possibly damaging Het
Junb A G 8: 85,704,353 (GRCm39) F236L probably benign Het
Klhl36 T C 8: 120,596,881 (GRCm39) V194A probably benign Het
Lsg1 A T 16: 30,400,906 (GRCm39) D134E probably benign Het
Megf8 G T 7: 25,060,138 (GRCm39) C2343F probably damaging Het
Mtres1 T C 10: 43,408,780 (GRCm39) E121G possibly damaging Het
Myom3 G A 4: 135,530,603 (GRCm39) G1172R probably damaging Het
Nasp A T 4: 116,461,530 (GRCm39) V548E probably damaging Het
Nubpl T A 12: 52,357,536 (GRCm39) S317T probably benign Het
Nup210l A G 3: 90,075,204 (GRCm39) D838G possibly damaging Het
Oxsr1 C T 9: 119,076,188 (GRCm39) A373T probably benign Het
Psat1 C T 19: 15,895,569 (GRCm39) probably null Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Slain1 C T 14: 103,888,215 (GRCm39) P45L possibly damaging Het
Slc16a8 A G 15: 79,137,949 (GRCm39) V20A possibly damaging Het
Slc22a13 A T 9: 119,025,473 (GRCm39) M145K probably damaging Het
Slc22a4 G A 11: 53,879,739 (GRCm39) T440I probably damaging Het
Slc39a12 C T 2: 14,394,352 (GRCm39) P74L probably damaging Het
Sod3 A G 5: 52,526,050 (GRCm39) T250A unknown Het
Syne2 A G 12: 76,142,503 (GRCm39) probably null Het
Tctn1 A G 5: 122,387,019 (GRCm39) Y299H probably damaging Het
Tfcp2l1 A G 1: 118,603,305 (GRCm39) M448V probably benign Het
Tfpi C T 2: 84,275,153 (GRCm39) G152S probably damaging Het
Thap4 A G 1: 93,678,691 (GRCm39) S32P probably damaging Het
Tmem132c T A 5: 127,628,744 (GRCm39) W549R probably damaging Het
Vmn2r29 T C 7: 7,244,641 (GRCm39) E411G probably damaging Het
Washc4 C A 10: 83,411,919 (GRCm39) D683E probably benign Het
Wdr3 A T 3: 100,057,217 (GRCm39) V462D possibly damaging Het
Wdr5b T C 16: 35,862,150 (GRCm39) S90P probably damaging Het
Zfp407 A G 18: 84,579,559 (GRCm39) L518P possibly damaging Het
Zfp53 A G 17: 21,728,707 (GRCm39) I247V possibly damaging Het
Other mutations in Borcs5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1174:Borcs5 UTSW 6 134,687,096 (GRCm39) missense probably damaging 1.00
R1175:Borcs5 UTSW 6 134,687,096 (GRCm39) missense probably damaging 1.00
R1290:Borcs5 UTSW 6 134,621,331 (GRCm39) missense possibly damaging 0.63
R1951:Borcs5 UTSW 6 134,687,230 (GRCm39) missense unknown
R1953:Borcs5 UTSW 6 134,687,230 (GRCm39) missense unknown
R1972:Borcs5 UTSW 6 134,687,137 (GRCm39) missense probably damaging 0.99
R4378:Borcs5 UTSW 6 134,621,292 (GRCm39) missense probably benign
R5622:Borcs5 UTSW 6 134,663,086 (GRCm39) critical splice donor site probably null
R6543:Borcs5 UTSW 6 134,687,143 (GRCm39) missense probably damaging 1.00
R7313:Borcs5 UTSW 6 134,687,143 (GRCm39) missense probably damaging 1.00
R7405:Borcs5 UTSW 6 134,662,945 (GRCm39) missense probably benign 0.09
R7555:Borcs5 UTSW 6 134,662,942 (GRCm39) missense probably benign 0.01
R8219:Borcs5 UTSW 6 134,621,313 (GRCm39) missense probably benign 0.01
R8944:Borcs5 UTSW 6 134,621,437 (GRCm39) critical splice donor site probably null
R9153:Borcs5 UTSW 6 134,618,108 (GRCm39) intron probably benign
Z1176:Borcs5 UTSW 6 134,687,086 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- AGGGTAAGCCGACTGTAATGTTTTG -3'
(R):5'- GAAATTCAACTGTCCCAACTTCG -3'

Sequencing Primer
(F):5'- GTTCACTTCCTGCAGATGGATC -3'
(R):5'- GTCCCAACTTCGGTTCTCAAG -3'
Posted On 2018-11-28