Incidental Mutation 'R6819:Boc'
| ID |
537541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
044931-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6819 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44313188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 559
(T559A)
|
| 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: T559A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: T559A
| 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: 99.6%
- 20x: 98.8%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Adal |
T |
A |
2: 120,978,794 (GRCm39) |
I138N |
probably damaging |
Het |
| Arfgap1 |
T |
C |
2: 180,613,478 (GRCm39) |
|
probably null |
Het |
| Brip1 |
A |
G |
11: 86,001,267 (GRCm39) |
V723A |
possibly damaging |
Het |
| Cnot10 |
A |
C |
9: 114,444,123 (GRCm39) |
I424S |
probably benign |
Het |
| Cntnap4 |
T |
G |
8: 113,529,858 (GRCm39) |
S689A |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,911,460 (GRCm39) |
N506K |
possibly damaging |
Het |
| Dctn3 |
T |
A |
4: 41,715,259 (GRCm39) |
T158S |
possibly damaging |
Het |
| Dnai2 |
A |
G |
11: 114,635,917 (GRCm39) |
I301V |
probably benign |
Het |
| Ebpl |
G |
T |
14: 61,578,695 (GRCm39) |
P180Q |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,254,649 (GRCm39) |
Y489F |
probably damaging |
Het |
| Frmd8 |
T |
C |
19: 5,915,208 (GRCm39) |
N232S |
probably benign |
Het |
| Fuca1 |
T |
C |
4: 135,660,267 (GRCm39) |
Y262H |
probably damaging |
Het |
| Gfy |
T |
C |
7: 44,826,975 (GRCm39) |
I374V |
possibly damaging |
Het |
| Glg1 |
G |
A |
8: 111,914,513 (GRCm39) |
R424C |
probably damaging |
Het |
| Ica1 |
G |
T |
6: 8,742,288 (GRCm39) |
T115K |
probably damaging |
Het |
| Igf2bp2 |
T |
C |
16: 21,879,586 (GRCm39) |
E511G |
probably damaging |
Het |
| Jag2 |
C |
A |
12: 112,874,161 (GRCm39) |
R998L |
probably damaging |
Het |
| Kcnv1 |
G |
T |
15: 44,972,513 (GRCm39) |
L457I |
probably damaging |
Het |
| Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
| Ms4a8a |
T |
A |
19: 11,053,743 (GRCm39) |
H121L |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,412,600 (GRCm39) |
S1849T |
unknown |
Het |
| Myo10 |
T |
C |
15: 25,781,496 (GRCm39) |
V997A |
possibly damaging |
Het |
| Or10g3b |
A |
G |
14: 52,587,156 (GRCm39) |
Y116H |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,917,844 (GRCm39) |
M134L |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,706,905 (GRCm39) |
I78N |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,801 (GRCm39) |
C32S |
probably damaging |
Het |
| Per1 |
G |
T |
11: 68,992,284 (GRCm39) |
Q179H |
probably damaging |
Het |
| Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
| Rbp2 |
T |
A |
9: 98,391,614 (GRCm39) |
V130E |
probably damaging |
Het |
| Rictor |
T |
A |
15: 6,825,517 (GRCm39) |
|
probably null |
Het |
| Rundc3a |
A |
T |
11: 102,289,287 (GRCm39) |
R153* |
probably null |
Het |
| Scrn3 |
C |
T |
2: 73,149,826 (GRCm39) |
A174V |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,594,619 (GRCm39) |
Q200L |
probably benign |
Het |
| Slc25a51 |
A |
T |
4: 45,399,365 (GRCm39) |
I275N |
possibly damaging |
Het |
| Spast |
C |
T |
17: 74,674,281 (GRCm39) |
H238Y |
possibly damaging |
Het |
| Speg |
A |
T |
1: 75,368,456 (GRCm39) |
I775F |
possibly damaging |
Het |
| Ssh1 |
G |
T |
5: 114,084,851 (GRCm39) |
T463K |
probably benign |
Het |
| Tm2d3 |
A |
G |
7: 65,347,526 (GRCm39) |
E151G |
probably damaging |
Het |
| Uggt2 |
A |
G |
14: 119,263,847 (GRCm39) |
I1061T |
probably damaging |
Het |
| Unc79 |
T |
G |
12: 103,108,267 (GRCm39) |
S1941A |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,853,244 (GRCm39) |
D572G |
probably benign |
Het |
| Vmn2r16 |
T |
G |
5: 109,488,412 (GRCm39) |
S428R |
probably benign |
Het |
| Zeb1 |
A |
G |
18: 5,591,917 (GRCm39) |
D3G |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,936 (GRCm39) |
T359A |
probably benign |
Het |
| Zfp987 |
C |
A |
4: 146,062,315 (GRCm39) |
D582E |
probably benign |
Het |
| Zg16 |
G |
A |
7: 126,649,692 (GRCm39) |
P90S |
possibly 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 |
|
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 |
|
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'- GCTATTGATCCTTGTGCTGAGC -3'
(R):5'- ACAGCAGAAGCAGGTCCTTAC -3'
Sequencing Primer
(F):5'- TGCCAGAGAGGTTCATCAATC -3'
(R):5'- GGTCCTTACCCCAGTCACC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation