Incidental Mutation 'R6904:Boc'
ID 538709
Institutional Source Beutler Lab
Gene Symbol Boc
Ensembl Gene ENSMUSG00000022687
Gene Name BOC cell adhesion associated, oncogene regulated
Synonyms
MMRRC Submission 045033-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6904 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 44305408-44379233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44312154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 636 (V636A)
Ref Sequence ENSEMBL: ENSMUSP00000110281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114634]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000114634
AA Change: V636A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: V636A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IGc2 43 108 4.36e-4 SMART
IG 130 217 8.99e-6 SMART
IGc2 238 301 3.94e-11 SMART
IGc2 330 393 1.46e-14 SMART
low complexity region 423 433 N/A INTRINSIC
FN3 467 553 1.14e-5 SMART
FN3 601 685 3.53e-11 SMART
FN3 707 794 4.25e-5 SMART
low complexity region 813 829 N/A INTRINSIC
transmembrane domain 851 873 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a null mutation display abnormal commissural axon projections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,516 (GRCm39) Y406* probably null Het
Acadvl T C 11: 69,905,159 (GRCm39) D109G probably benign Het
Adam24 G A 8: 41,134,542 (GRCm39) G670E probably damaging Het
Angpt1 T C 15: 42,323,136 (GRCm39) M378V probably benign Het
Ankrd33 G A 15: 101,014,993 (GRCm39) probably null Het
Apol7b G A 15: 77,307,625 (GRCm39) T290I probably benign Het
Atg4a-ps A G 3: 103,553,180 (GRCm39) W54R probably damaging Het
B3glct A G 5: 149,663,069 (GRCm39) probably null Het
Bmp7 A G 2: 172,714,706 (GRCm39) S368P probably damaging Het
Cacna1i G A 15: 80,259,002 (GRCm39) R1237H probably damaging Het
Cdcp1 T C 9: 123,002,980 (GRCm39) D697G probably benign Het
Cep85l T C 10: 53,225,194 (GRCm39) T132A probably benign Het
Ces1b T A 8: 93,787,038 (GRCm39) Y447F probably damaging Het
Cfhr4 T G 1: 139,659,391 (GRCm39) N642H possibly damaging Het
Cntn4 A T 6: 106,674,544 (GRCm39) T1015S probably benign Het
Eea1 T G 10: 95,838,741 (GRCm39) probably null Het
Fcgbpl1 C T 7: 27,836,638 (GRCm39) R186C probably damaging Het
Hipk1 A T 3: 103,684,828 (GRCm39) N262K possibly damaging Het
Jmjd8 G A 17: 26,048,026 (GRCm39) R41H possibly damaging Het
Klhl3 T A 13: 58,178,259 (GRCm39) T344S probably damaging Het
Krt39 T C 11: 99,410,647 (GRCm39) D175G probably damaging Het
Map4k1 A G 7: 28,686,227 (GRCm39) Y81C probably damaging Het
Mpdu1 T A 11: 69,549,411 (GRCm39) T95S probably benign Het
Myl12b A T 17: 71,284,135 (GRCm39) I31N probably damaging Het
Ndufaf5 T A 2: 140,030,700 (GRCm39) Y195* probably null Het
Or4c119 G A 2: 88,987,157 (GRCm39) R121C possibly damaging Het
Or4d5 T C 9: 40,012,652 (GRCm39) I45V probably benign Het
Or51v15-ps1 A T 7: 103,278,790 (GRCm39) F126I probably benign Het
Or52z12 T A 7: 103,233,727 (GRCm39) I166N possibly damaging Het
Or5w17 A G 2: 87,584,223 (GRCm39) V38A probably benign Het
Oxgr1 T A 14: 120,259,431 (GRCm39) I259F possibly damaging Het
Pcdhb9 T A 18: 37,534,970 (GRCm39) D321E probably benign Het
Pi4kb G T 3: 94,900,461 (GRCm39) R392L probably damaging Het
Pramel18 G A 4: 101,767,291 (GRCm39) C180Y possibly damaging Het
Prss41 T C 17: 24,056,622 (GRCm39) K151R probably benign Het
Rev3l T A 10: 39,697,477 (GRCm39) V658D probably benign Het
Snx4 A G 16: 33,115,108 (GRCm39) I430V probably damaging Het
Tanc2 C T 11: 105,726,056 (GRCm39) H407Y possibly damaging Het
Tcf25 G A 8: 124,127,437 (GRCm39) probably null Het
Tsc22d1 A T 14: 76,743,923 (GRCm39) K24* probably null Het
Vmn2r30 A G 7: 7,315,547 (GRCm39) F762S probably damaging Het
Xrcc6 A G 15: 81,913,323 (GRCm39) T319A probably benign Het
Zbtb1 C T 12: 76,432,985 (GRCm39) R324* probably null Het
Zc3h7a A G 16: 10,963,535 (GRCm39) Y729H probably damaging Het
Zfp329 C A 7: 12,540,457 (GRCm39) probably benign Het
Zfp456 A T 13: 67,514,384 (GRCm39) S441T probably benign Het
Other mutations in Boc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00799:Boc APN 16 44,313,318 (GRCm39) missense probably benign 0.00
IGL00981:Boc APN 16 44,312,164 (GRCm39) missense probably damaging 0.99
IGL01820:Boc APN 16 44,312,235 (GRCm39) missense possibly damaging 0.88
IGL03114:Boc APN 16 44,307,115 (GRCm39) missense probably benign 0.38
IGL03195:Boc APN 16 44,313,184 (GRCm39) missense probably damaging 0.99
R0006:Boc UTSW 16 44,316,812 (GRCm39) missense probably benign 0.41
R0142:Boc UTSW 16 44,310,604 (GRCm39) missense probably damaging 1.00
R0417:Boc UTSW 16 44,340,597 (GRCm39) missense probably benign 0.16
R1066:Boc UTSW 16 44,311,047 (GRCm39) critical splice acceptor site probably null
R1248:Boc UTSW 16 44,340,836 (GRCm39) missense probably benign 0.03
R1438:Boc UTSW 16 44,309,109 (GRCm39) splice site probably null
R1506:Boc UTSW 16 44,323,928 (GRCm39) missense probably damaging 1.00
R1729:Boc UTSW 16 44,316,782 (GRCm39) missense probably benign 0.00
R1784:Boc UTSW 16 44,316,782 (GRCm39) missense probably benign 0.00
R2004:Boc UTSW 16 44,322,007 (GRCm39) critical splice donor site probably null
R2441:Boc UTSW 16 44,308,986 (GRCm39) missense probably damaging 1.00
R2863:Boc UTSW 16 44,313,323 (GRCm39) missense probably benign 0.03
R3885:Boc UTSW 16 44,307,976 (GRCm39) splice site probably benign
R4201:Boc UTSW 16 44,310,981 (GRCm39) missense probably damaging 1.00
R4239:Boc UTSW 16 44,312,247 (GRCm39) missense probably damaging 1.00
R4382:Boc UTSW 16 44,311,545 (GRCm39) missense probably damaging 1.00
R4384:Boc UTSW 16 44,311,545 (GRCm39) missense probably damaging 1.00
R4385:Boc UTSW 16 44,311,545 (GRCm39) missense probably damaging 1.00
R4684:Boc UTSW 16 44,320,743 (GRCm39) missense probably benign 0.07
R4776:Boc UTSW 16 44,308,084 (GRCm39) missense probably damaging 0.99
R4788:Boc UTSW 16 44,320,796 (GRCm39) missense probably damaging 1.00
R4830:Boc UTSW 16 44,310,520 (GRCm39) missense probably damaging 1.00
R5000:Boc UTSW 16 44,310,517 (GRCm39) missense probably damaging 1.00
R5567:Boc UTSW 16 44,313,187 (GRCm39) missense probably damaging 1.00
R5570:Boc UTSW 16 44,313,187 (GRCm39) missense probably damaging 1.00
R5645:Boc UTSW 16 44,320,024 (GRCm39) missense probably damaging 0.99
R5651:Boc UTSW 16 44,341,558 (GRCm39) missense probably benign 0.00
R5881:Boc UTSW 16 44,311,014 (GRCm39) missense probably damaging 1.00
R6021:Boc UTSW 16 44,309,017 (GRCm39) missense probably benign 0.00
R6085:Boc UTSW 16 44,308,970 (GRCm39) missense probably damaging 1.00
R6188:Boc UTSW 16 44,319,911 (GRCm39) missense possibly damaging 0.67
R6295:Boc UTSW 16 44,312,711 (GRCm39) missense probably benign 0.05
R6366:Boc UTSW 16 44,308,015 (GRCm39) missense probably benign 0.04
R6626:Boc UTSW 16 44,340,803 (GRCm39) missense possibly damaging 0.47
R6629:Boc UTSW 16 44,312,724 (GRCm39) missense probably benign 0.11
R6707:Boc UTSW 16 44,320,979 (GRCm39) missense possibly damaging 0.71
R6819:Boc UTSW 16 44,313,188 (GRCm39) missense probably damaging 0.99
R7260:Boc UTSW 16 44,310,533 (GRCm39) missense
R7353:Boc UTSW 16 44,306,100 (GRCm39) missense unknown
R7458:Boc UTSW 16 44,307,119 (GRCm39) missense
R7671:Boc UTSW 16 44,312,212 (GRCm39) missense
R8283:Boc UTSW 16 44,340,800 (GRCm39) missense noncoding transcript
R8753:Boc UTSW 16 44,320,775 (GRCm39) missense
R8886:Boc UTSW 16 44,319,806 (GRCm39) missense
R8906:Boc UTSW 16 44,323,931 (GRCm39) missense
R9204:Boc UTSW 16 44,308,077 (GRCm39) missense
R9238:Boc UTSW 16 44,311,021 (GRCm39) missense
R9400:Boc UTSW 16 44,319,844 (GRCm39) missense
R9623:Boc UTSW 16 44,322,018 (GRCm39) missense
R9786:Boc UTSW 16 44,311,692 (GRCm39) missense
RF028:Boc UTSW 16 44,316,796 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCCATACCCATGAGTACTTGTGG -3'
(R):5'- TCTAGGTGGTCCAGAGCATC -3'

Sequencing Primer
(F):5'- GACTGAATTAAGACCGTCCACTGTTC -3'
(R):5'- GTGGTCCAGAGCATCATCTCATG -3'
Posted On 2018-11-06