Incidental Mutation 'R4378:Borcs5'
ID 381219
Institutional Source Beutler Lab
Gene Symbol Borcs5
Ensembl Gene ENSMUSG00000042992
Gene Name BLOC-1 related complex subunit 5
Synonyms 5830457J20Rik, Loh12cr1
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.712) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 134616475-134688147 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134621292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 21 (V21A)
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: V20A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054913
Gene: ENSMUSG00000042992
AA Change: V20A

DomainStartEndE-ValueType
Pfam:LOH1CR12 61 191 7.9e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166591
AA Change: V21A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127413
Gene: ENSMUSG00000042992
AA Change: V21A

DomainStartEndE-ValueType
Pfam:LOH1CR12 62 192 5.7e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203234
Meta Mutation Damage Score 0.0580 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or1j1 T C 2: 36,702,481 (GRCm39) M208V probably benign Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F 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
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
R6899:Borcs5 UTSW 6 134,687,173 (GRCm39) missense probably benign 0.00
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'- AGGAGACAGCACCACTCTTG -3'
(R):5'- GCAAGTCCAGATATCACAGAAGTCTC -3'

Sequencing Primer
(F):5'- CAGAAAATCTTTCACTGGGCCTGG -3'
(R):5'- TCCAGATATCACAGAAGTCTCTTACC -3'
Posted On 2016-04-20