Incidental Mutation 'R8753:Boc'
| ID |
664000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
068619-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8753 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44320775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 295
(M295K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: M295K
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (59/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
C |
2: 25,332,706 (GRCm39) |
Y1496H |
probably damaging |
Het |
| Acan |
G |
A |
7: 78,748,516 (GRCm39) |
E1096K |
possibly damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,118 (GRCm39) |
K1547E |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Arf4 |
T |
A |
14: 26,374,114 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
T |
A |
7: 100,049,024 (GRCm39) |
|
probably null |
Het |
| Calcrl |
C |
G |
2: 84,178,659 (GRCm39) |
G223A |
probably benign |
Het |
| Calcrl |
C |
A |
2: 84,178,661 (GRCm39) |
M222I |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Ccz1 |
A |
G |
5: 143,925,050 (GRCm39) |
C469R |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,223,958 (GRCm39) |
G251S |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Cpox |
T |
A |
16: 58,498,391 (GRCm39) |
M408K |
probably damaging |
Het |
| Crybb3 |
A |
G |
5: 113,226,247 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
T |
2: 13,313,377 (GRCm39) |
C3064* |
probably null |
Het |
| Cxcl3 |
CCTGCTGCTGCTGCTG |
CCTGCTGCTGCTG |
5: 90,934,071 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
A |
T |
4: 115,432,158 (GRCm39) |
S432C |
probably benign |
Het |
| Ddias |
A |
T |
7: 92,508,668 (GRCm39) |
F416I |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,074,398 (GRCm39) |
T612A |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,400,867 (GRCm39) |
T1089A |
probably damaging |
Het |
| Gm12117 |
A |
T |
11: 33,225,953 (GRCm39) |
L128M |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Ibtk |
T |
C |
9: 85,610,819 (GRCm39) |
T285A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,301,223 (GRCm39) |
N818K |
unknown |
Het |
| Itga10 |
T |
G |
3: 96,558,471 (GRCm39) |
L305R |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,125,223 (GRCm39) |
Y461H |
possibly damaging |
Het |
| Macroh2a2 |
T |
C |
10: 61,585,113 (GRCm39) |
D177G |
possibly damaging |
Het |
| Mbtps1 |
T |
C |
8: 120,235,601 (GRCm39) |
S1026G |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,013 (GRCm39) |
E246G |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,575,085 (GRCm39) |
I737V |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,102,320 (GRCm39) |
S373A |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,534,329 (GRCm39) |
Y2936C |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,307,542 (GRCm39) |
I1685F |
probably damaging |
Het |
| Nt5c3 |
C |
G |
6: 56,860,677 (GRCm39) |
G293R |
probably damaging |
Het |
| Or4f14c |
A |
T |
2: 111,940,802 (GRCm39) |
V265E |
probably benign |
Het |
| Or52z1 |
T |
A |
7: 103,436,567 (GRCm39) |
I306F |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,613,999 (GRCm39) |
V484E |
probably benign |
Het |
| Pcsk5 |
C |
T |
19: 17,446,408 (GRCm39) |
R1195Q |
probably benign |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,942,704 (GRCm39) |
V861A |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,793,176 (GRCm39) |
Y1621C |
probably damaging |
Het |
| Polr3a |
C |
A |
14: 24,513,702 (GRCm39) |
E846* |
probably null |
Het |
| Polr3e |
T |
C |
7: 120,539,540 (GRCm39) |
V455A |
possibly damaging |
Het |
| Prr5l |
C |
T |
2: 101,571,723 (GRCm39) |
G118D |
probably damaging |
Het |
| Pygl |
G |
T |
12: 70,242,400 (GRCm39) |
N685K |
probably damaging |
Het |
| Rfx8 |
A |
G |
1: 39,757,600 (GRCm39) |
V56A |
probably damaging |
Het |
| Sbf1 |
T |
C |
15: 89,179,662 (GRCm39) |
D1341G |
probably benign |
Het |
| Selenon |
T |
C |
4: 134,275,330 (GRCm39) |
T123A |
probably benign |
Het |
| Slc23a1 |
T |
G |
18: 35,752,631 (GRCm39) |
K549Q |
probably benign |
Het |
| Slc7a13 |
T |
C |
4: 19,841,443 (GRCm39) |
F430S |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,319,070 (GRCm39) |
V707M |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,916,015 (GRCm39) |
S887G |
probably damaging |
Het |
| T2 |
T |
C |
17: 8,615,477 (GRCm39) |
|
probably benign |
Het |
| Tbc1d16 |
A |
G |
11: 119,101,492 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcf7l2 |
T |
C |
19: 55,920,195 (GRCm39) |
L576P |
possibly damaging |
Het |
| Tnr |
A |
G |
1: 159,677,936 (GRCm39) |
D107G |
probably benign |
Het |
| Trpv1 |
G |
T |
11: 73,135,082 (GRCm39) |
K426N |
probably damaging |
Het |
| Vmn1r15 |
A |
T |
6: 57,235,895 (GRCm39) |
L254F |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,191 (GRCm39) |
I127F |
probably damaging |
Het |
| Zc3h14 |
A |
T |
12: 98,724,831 (GRCm39) |
E164D |
probably benign |
Het |
|
| Other mutations in Boc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
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'- GCCTTTCACAGTAGAAACCTTTC -3'
(R):5'- TGTCACCAAAGGCCAGAGTC -3'
Sequencing Primer
(F):5'- AGCCAGTATTCTGCTAGCAG -3'
(R):5'- AAAGGCCAGAGTCTCATACTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation