Incidental Mutation 'IGL03195:Boc'
| ID |
412778 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44313184 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 560
(F560S)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023370
AA Change: F560S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: F560S
| 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 damaging
Transcript: ENSMUST00000114634
AA Change: F560S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: F560S
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,903,607 (GRCm39) |
D1086G |
possibly damaging |
Het |
| Ahcyl2 |
T |
C |
6: 29,906,768 (GRCm39) |
|
probably benign |
Het |
| Ankrd42 |
T |
A |
7: 92,241,066 (GRCm39) |
Q431L |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,031,766 (GRCm39) |
F592I |
probably damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,088,071 (GRCm39) |
|
probably null |
Het |
| Ccdc81 |
A |
T |
7: 89,545,916 (GRCm39) |
V96E |
probably benign |
Het |
| Cep162 |
C |
T |
9: 87,107,839 (GRCm39) |
S517N |
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,085,178 (GRCm39) |
N372S |
probably benign |
Het |
| Dnah7a |
G |
A |
1: 53,458,766 (GRCm39) |
R3791C |
probably damaging |
Het |
| Fdxr |
T |
C |
11: 115,166,918 (GRCm39) |
Q57R |
probably benign |
Het |
| Fsip2l |
T |
A |
X: 47,961,825 (GRCm39) |
Q296L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,216,367 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,678,660 (GRCm39) |
T487I |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,933,847 (GRCm39) |
I282N |
probably damaging |
Het |
| Lif |
A |
T |
11: 4,219,201 (GRCm39) |
Y160F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,361,134 (GRCm39) |
D556E |
possibly damaging |
Het |
| Myom2 |
G |
T |
8: 15,161,844 (GRCm39) |
E954* |
probably null |
Het |
| Nr6a1 |
A |
T |
2: 38,632,948 (GRCm39) |
I171N |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 90,992,832 (GRCm39) |
R1059L |
probably benign |
Het |
| Or11g27 |
A |
G |
14: 50,770,877 (GRCm39) |
T3A |
probably benign |
Het |
| Or2ag16 |
A |
G |
7: 106,351,980 (GRCm39) |
I205T |
probably benign |
Het |
| Or2w25 |
G |
A |
11: 59,504,629 (GRCm39) |
V280M |
probably damaging |
Het |
| Or5ak4 |
A |
T |
2: 85,161,864 (GRCm39) |
I126N |
probably damaging |
Het |
| Or5aq6 |
A |
T |
2: 86,922,913 (GRCm39) |
V276E |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,574,213 (GRCm39) |
V302A |
probably damaging |
Het |
| Oxct1 |
A |
G |
15: 4,130,671 (GRCm39) |
M388V |
possibly damaging |
Het |
| Ppp6r2 |
G |
A |
15: 89,152,758 (GRCm39) |
V300I |
possibly damaging |
Het |
| Prmt1 |
T |
C |
7: 44,626,995 (GRCm39) |
Y205C |
probably damaging |
Het |
| Slc45a4 |
A |
C |
15: 73,456,272 (GRCm39) |
V636G |
possibly damaging |
Het |
| Spata18 |
T |
A |
5: 73,828,591 (GRCm39) |
L270Q |
probably damaging |
Het |
| Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
| Thsd7b |
G |
A |
1: 129,556,646 (GRCm39) |
C334Y |
probably damaging |
Het |
| Tmtc3 |
C |
T |
10: 100,294,896 (GRCm39) |
V406M |
probably benign |
Het |
| Trpc5 |
T |
A |
X: 143,165,724 (GRCm39) |
M900L |
probably benign |
Het |
| Ttc9c |
T |
C |
19: 8,793,344 (GRCm39) |
K99E |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,491,007 (GRCm39) |
E275G |
probably damaging |
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 |
|
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 |
|
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation