Incidental Mutation 'R5651:Boc'
ID 441445
Institutional Source Beutler Lab
Gene Symbol Boc
Ensembl Gene ENSMUSG00000022687
Gene Name BOC cell adhesion associated, oncogene regulated
Synonyms
MMRRC Submission 043297-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5651 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 44305408-44379233 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44341558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 16 (I16F)
Ref Sequence ENSEMBL: ENSMUSP00000110281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114634]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023370
AA Change: I16F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: I16F

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
Predicted Effect probably benign
Transcript: ENSMUST00000114634
AA Change: I16F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: I16F

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 G A 11: 48,910,700 (GRCm39) H578Y probably damaging Het
Atp11b A G 3: 35,909,289 (GRCm39) D1161G probably damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
AY358078 T A 14: 52,059,617 (GRCm39) V318D unknown Het
B020004C17Rik C T 14: 57,252,689 (GRCm39) probably benign Het
Brinp3 A T 1: 146,577,537 (GRCm39) T191S probably benign Het
Cald1 T A 6: 34,739,255 (GRCm39) N419K probably damaging Het
Cecr2 G A 6: 120,732,521 (GRCm39) G471D probably damaging Het
Cftr T A 6: 18,255,364 (GRCm39) probably null Het
Cyp2c38 T A 19: 39,449,156 (GRCm39) T66S probably damaging Het
Fbxo11 A T 17: 88,323,136 (GRCm39) D83E probably benign Het
Fshr T A 17: 89,293,257 (GRCm39) M474L possibly damaging Het
Hhla1 T A 15: 65,813,663 (GRCm39) E223V probably damaging Het
Hnrnpa1 G C 15: 103,148,955 (GRCm39) E5D possibly damaging Het
Htr2a T A 14: 74,943,143 (GRCm39) V241E probably damaging Het
Ier5 T C 1: 154,974,491 (GRCm39) E229G possibly damaging Het
Inka2 C A 3: 105,623,748 (GRCm39) Q22K probably damaging Het
Krt87 A T 15: 101,331,910 (GRCm39) M276K possibly damaging Het
Mast1 G C 8: 85,655,597 (GRCm39) Y182* probably null Het
Mia3 T A 1: 183,139,998 (GRCm39) D239V probably damaging Het
Mmut T A 17: 41,258,002 (GRCm39) D389E probably damaging Het
Mpp7 A G 18: 7,355,016 (GRCm39) probably null Het
Mycbp2 A G 14: 103,520,101 (GRCm39) C739R probably null Het
Or13e8 C G 4: 43,696,636 (GRCm39) C179S probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or8k21 A G 2: 86,144,784 (GRCm39) I282T probably benign Het
Or9e1 A T 11: 58,732,317 (GRCm39) R126* probably null Het
Palld A T 8: 61,991,822 (GRCm39) I510N probably damaging Het
Pappa A G 4: 65,074,589 (GRCm39) E381G probably damaging Het
Phldb1 G A 9: 44,623,200 (GRCm39) T618I probably damaging Het
Pkd1 A G 17: 24,810,361 (GRCm39) E3631G possibly damaging Het
Pkhd1 C T 1: 20,188,031 (GRCm39) V3426I probably benign Het
Plk4 A G 3: 40,767,940 (GRCm39) T828A probably benign Het
Psmb5 C T 14: 54,854,221 (GRCm39) A86T possibly damaging Het
Rasal2 A G 1: 156,984,951 (GRCm39) V907A probably damaging Het
Rxra C T 2: 27,627,353 (GRCm39) T24M probably benign Het
Senp1 A G 15: 97,974,498 (GRCm39) S105P probably benign Het
Sh3rf1 A G 8: 61,816,201 (GRCm39) D486G probably damaging Het
Slc49a4 G A 16: 35,555,986 (GRCm39) A158V probably benign Het
Slfn5 A C 11: 82,851,490 (GRCm39) N596H probably benign Het
Tanc2 T A 11: 105,689,526 (GRCm39) D229E probably benign Het
Taok2 T C 7: 126,479,455 (GRCm39) K57E probably damaging Het
Thsd7a C T 6: 12,343,212 (GRCm39) C1135Y probably damaging Het
V1ra8 T C 6: 90,180,508 (GRCm39) L237P probably benign Het
Vcpip1 G A 1: 9,818,065 (GRCm39) T106M probably damaging Het
Vmn1r215 T G 13: 23,259,981 (GRCm39) I7S possibly damaging Het
Vmn1r233 T A 17: 21,214,279 (GRCm39) M224L probably benign Het
Xpot A T 10: 121,440,454 (GRCm39) D592E probably damaging 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
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
R6904:Boc UTSW 16 44,312,154 (GRCm39) missense probably damaging 1.00
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'- TGTGGTACAGCCTGAAGGTC -3'
(R):5'- CTGCAAGTGTGATGGAGTGAGC -3'

Sequencing Primer
(F):5'- TCAGTAGAGATGCCGTACTCCTAAG -3'
(R):5'- AGACATTCTCACCATGGCCATTC -3'
Posted On 2016-11-08