Incidental Mutation 'R7353:Boc'
| ID |
570768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
045439-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44306100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 1070
(V1070M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110281
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099742]
[ENSMUST00000114634]
[ENSMUST00000120049]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099742
|
| SMART Domains |
Protein: ENSMUSP00000097331
Gene: ENSMUSG00000071550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
Blast:WD40
|
161 |
201 |
1e-7 |
BLAST |
|
WD40
|
204 |
246 |
4.58e1 |
SMART |
|
WD40
|
249 |
288 |
4.62e-1 |
SMART |
|
Blast:WD40
|
292 |
337 |
2e-15 |
BLAST |
|
WD40
|
342 |
381 |
4.8e-2 |
SMART |
|
WD40
|
447 |
486 |
4.95e-4 |
SMART |
|
WD40
|
491 |
532 |
2.64e2 |
SMART |
|
WD40
|
552 |
591 |
2.98e-7 |
SMART |
|
Blast:WD40
|
595 |
634 |
1e-19 |
BLAST |
|
coiled coil region
|
669 |
711 |
N/A |
INTRINSIC |
|
WD40
|
780 |
820 |
3.82e1 |
SMART |
|
WD40
|
830 |
872 |
2.4e-2 |
SMART |
|
coiled coil region
|
907 |
955 |
N/A |
INTRINSIC |
|
coiled coil region
|
1101 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1295 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1325 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1459 |
N/A |
INTRINSIC |
|
low complexity region
|
1476 |
1488 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1523 |
N/A |
INTRINSIC |
|
coiled coil region
|
1543 |
1607 |
N/A |
INTRINSIC |
|
coiled coil region
|
1630 |
1731 |
N/A |
INTRINSIC |
|
coiled coil region
|
1795 |
1822 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114634
AA Change: V1070M
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: V1070M
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120049
|
| SMART Domains |
Protein: ENSMUSP00000113908
Gene: ENSMUSG00000071550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
64 |
N/A |
INTRINSIC |
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
Blast:WD40
|
161 |
201 |
1e-7 |
BLAST |
|
WD40
|
204 |
246 |
4.58e1 |
SMART |
|
WD40
|
249 |
288 |
4.62e-1 |
SMART |
|
Blast:WD40
|
292 |
337 |
2e-15 |
BLAST |
|
WD40
|
342 |
381 |
4.8e-2 |
SMART |
|
WD40
|
447 |
486 |
4.95e-4 |
SMART |
|
WD40
|
491 |
532 |
2.64e2 |
SMART |
|
WD40
|
552 |
591 |
2.98e-7 |
SMART |
|
Blast:WD40
|
595 |
634 |
1e-19 |
BLAST |
|
coiled coil region
|
669 |
711 |
N/A |
INTRINSIC |
|
WD40
|
780 |
820 |
3.82e1 |
SMART |
|
WD40
|
830 |
872 |
2.4e-2 |
SMART |
|
coiled coil region
|
907 |
955 |
N/A |
INTRINSIC |
|
coiled coil region
|
1101 |
1122 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1295 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1325 |
N/A |
INTRINSIC |
|
coiled coil region
|
1402 |
1459 |
N/A |
INTRINSIC |
|
low complexity region
|
1476 |
1488 |
N/A |
INTRINSIC |
|
low complexity region
|
1489 |
1523 |
N/A |
INTRINSIC |
|
coiled coil region
|
1543 |
1607 |
N/A |
INTRINSIC |
|
coiled coil region
|
1630 |
1731 |
N/A |
INTRINSIC |
|
coiled coil region
|
1795 |
1822 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,714 (GRCm39) |
A11S |
unknown |
Het |
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,546,731 (GRCm39) |
I1369F |
probably damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,495 (GRCm39) |
I427F |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,542,993 (GRCm39) |
V397E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,710 (GRCm39) |
Y91F |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,341 (GRCm39) |
T454A |
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,413,368 (GRCm39) |
N635K |
probably benign |
Het |
| Ccr2 |
T |
C |
9: 123,906,793 (GRCm39) |
S358P |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,663,100 (GRCm39) |
Q28R |
possibly damaging |
Het |
| Cenpf |
T |
A |
1: 189,386,335 (GRCm39) |
K1982* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,933,161 (GRCm39) |
I137F |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,943 (GRCm39) |
I1532K |
possibly damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,107,230 (GRCm39) |
R304L |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,394,912 (GRCm39) |
M664K |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,750,741 (GRCm39) |
E336V |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,791,683 (GRCm39) |
Y63H |
|
Het |
| Fbxo41 |
G |
T |
6: 85,456,958 (GRCm39) |
R404S |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,197,835 (GRCm39) |
Y456* |
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,523 (GRCm39) |
N286K |
probably damaging |
Het |
| Kcna5 |
A |
G |
6: 126,511,808 (GRCm39) |
S107P |
probably benign |
Het |
| Kcne2 |
A |
T |
16: 92,093,710 (GRCm39) |
H79L |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,025 (GRCm39) |
M113L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,755,513 (GRCm39) |
L263Q |
probably damaging |
Het |
| Lctl |
G |
A |
9: 64,034,249 (GRCm39) |
G296D |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,437,424 (GRCm39) |
I205F |
possibly damaging |
Het |
| Magel2 |
G |
T |
7: 62,029,079 (GRCm39) |
R661L |
unknown |
Het |
| Mcm10 |
G |
A |
2: 5,011,920 (GRCm39) |
P180S |
possibly damaging |
Het |
| Mia3 |
G |
T |
1: 183,108,247 (GRCm39) |
A446D |
|
Het |
| N4bp2 |
G |
A |
5: 65,963,714 (GRCm39) |
V588M |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,259 (GRCm39) |
V755M |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,229,099 (GRCm39) |
V213A |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,896,946 (GRCm39) |
T522A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 110,042,763 (GRCm39) |
Q21R |
probably damaging |
Het |
| Nup160 |
T |
C |
2: 90,534,296 (GRCm39) |
L707S |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,587 (GRCm39) |
V452D |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,429 (GRCm39) |
F67L |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,702,915 (GRCm39) |
L63P |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,081 (GRCm39) |
M8L |
probably benign |
Het |
| Or1n1 |
G |
A |
2: 36,749,680 (GRCm39) |
R227* |
probably null |
Het |
| Or52s1 |
A |
C |
7: 102,861,516 (GRCm39) |
T150P |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,327 (GRCm39) |
T1405S |
|
Het |
| Pnrc1 |
G |
A |
4: 33,248,300 (GRCm39) |
P33L |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,085,684 (GRCm39) |
V312E |
possibly damaging |
Het |
| Rps17 |
T |
A |
7: 80,994,093 (GRCm39) |
E76V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,904,038 (GRCm39) |
G672S |
possibly damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,807 (GRCm39) |
N460S |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,339,764 (GRCm39) |
C56S |
possibly damaging |
Het |
| Speer1f |
G |
A |
5: 11,466,403 (GRCm39) |
D7N |
possibly damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Sult2a8 |
T |
C |
7: 14,147,640 (GRCm39) |
N217S |
possibly damaging |
Het |
| Tbx2 |
C |
A |
11: 85,724,315 (GRCm39) |
T128N |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,934,278 (GRCm39) |
M1313L |
probably benign |
Het |
| Tmc2 |
G |
A |
2: 130,038,497 (GRCm39) |
|
probably null |
Het |
| Tstd1 |
G |
T |
1: 171,247,523 (GRCm39) |
A69S |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,567 (GRCm39) |
D252G |
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,710,174 (GRCm39) |
N345D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,481,355 (GRCm39) |
D1694G |
probably benign |
Het |
| Vill |
T |
C |
9: 118,894,561 (GRCm39) |
V406A |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,564,887 (GRCm39) |
V258A |
possibly damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,452 (GRCm39) |
M817K |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,088 (GRCm39) |
S263P |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,714 (GRCm39) |
D481G |
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,952,778 (GRCm39) |
S81P |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,819,169 (GRCm39) |
V46A |
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 |
|
|
|
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'- GGGAGGATTCCATATCTCTCCAG -3'
(R):5'- ATGCCTTTGGTCCCAACATAG -3'
Sequencing Primer
(F):5'- TTTTCTCTGTCAACAAACAAACAAAC -3'
(R):5'- AGATGAATTGTAAGGGTCCTCC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation