Incidental Mutation 'R0006:Boc'
| ID |
43672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
041980-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0006 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 44316812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 444
(V444I)
|
| 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: V444I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: V444I
| 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: ENSMUST00000114634
AA Change: V444I
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: V444I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.3%
|
| Validation Efficiency |
97% (67/69) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,813,935 (GRCm39) |
|
probably benign |
Het |
| Aldh3a1 |
G |
A |
11: 61,107,927 (GRCm39) |
V324M |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,723,686 (GRCm39) |
L694Q |
possibly damaging |
Het |
| Appl2 |
A |
G |
10: 83,438,762 (GRCm39) |
F556L |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 4,992,030 (GRCm39) |
S210T |
possibly damaging |
Het |
| Aurka |
A |
G |
2: 172,201,673 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
G |
A |
2: 145,919,232 (GRCm39) |
V655I |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,472,750 (GRCm39) |
I351T |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,339 (GRCm39) |
|
probably benign |
Het |
| Cyp3a41a |
T |
A |
5: 145,641,606 (GRCm39) |
H288L |
probably benign |
Het |
| Dnase2b |
T |
A |
3: 146,288,244 (GRCm39) |
I284F |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,262,453 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,267,999 (GRCm39) |
T5325I |
probably benign |
Het |
| Erbb3 |
A |
G |
10: 128,409,279 (GRCm39) |
|
probably null |
Het |
| Fancl |
A |
G |
11: 26,419,695 (GRCm39) |
N316S |
possibly damaging |
Het |
| Farsa |
G |
T |
8: 85,587,934 (GRCm39) |
|
probably benign |
Het |
| Fibcd1 |
T |
G |
2: 31,728,599 (GRCm39) |
D86A |
probably damaging |
Het |
| Gab1 |
A |
T |
8: 81,496,359 (GRCm39) |
M617K |
possibly damaging |
Het |
| Gabrd |
C |
A |
4: 155,473,058 (GRCm39) |
V72L |
probably damaging |
Het |
| Ggh |
C |
A |
4: 20,054,155 (GRCm39) |
T150K |
possibly damaging |
Het |
| Gnb3 |
G |
A |
6: 124,812,767 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
T |
A |
9: 14,988,060 (GRCm39) |
T683S |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,684,427 (GRCm39) |
P381L |
probably damaging |
Het |
| Hspa8 |
T |
G |
9: 40,715,925 (GRCm39) |
N544K |
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,247,242 (GRCm39) |
T1155I |
probably damaging |
Het |
| Igdcc4 |
C |
T |
9: 65,042,382 (GRCm39) |
|
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,871,071 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,927,201 (GRCm39) |
S1219T |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,806,489 (GRCm39) |
Y460F |
possibly damaging |
Het |
| Lcor |
A |
G |
19: 41,573,338 (GRCm39) |
T698A |
probably benign |
Het |
| Lyrm7 |
T |
A |
11: 54,739,423 (GRCm39) |
T76S |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,810 (GRCm39) |
V304M |
probably damaging |
Het |
| Mcub |
A |
C |
3: 129,727,414 (GRCm39) |
|
probably benign |
Het |
| Muc13 |
T |
C |
16: 33,623,518 (GRCm39) |
S271P |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,525,988 (GRCm39) |
K843E |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,102,978 (GRCm39) |
E531G |
possibly damaging |
Het |
| Niban3 |
A |
G |
8: 72,057,688 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,212,035 (GRCm39) |
V553A |
probably benign |
Het |
| Or1e16 |
A |
G |
11: 73,286,314 (GRCm39) |
F178S |
probably damaging |
Het |
| Or1e1c |
A |
G |
11: 73,266,414 (GRCm39) |
M283V |
possibly damaging |
Het |
| Or52d1 |
A |
G |
7: 103,755,527 (GRCm39) |
I14V |
probably benign |
Het |
| Or6z1 |
A |
G |
7: 6,504,610 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8b9 |
T |
A |
9: 37,766,516 (GRCm39) |
V134D |
possibly damaging |
Het |
| P4ha3 |
C |
T |
7: 99,968,155 (GRCm39) |
R378* |
probably null |
Het |
| Rap1gds1 |
G |
T |
3: 138,689,632 (GRCm39) |
|
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,148,284 (GRCm39) |
S244R |
probably benign |
Het |
| Rpp40 |
G |
A |
13: 36,080,718 (GRCm39) |
P339S |
probably damaging |
Het |
| Rsph4a |
T |
C |
10: 33,785,144 (GRCm39) |
C148R |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,751,059 (GRCm39) |
|
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,073,855 (GRCm39) |
S1405P |
probably damaging |
Het |
| Tex35 |
T |
C |
1: 156,927,314 (GRCm39) |
K154E |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,533,468 (GRCm39) |
N1661S |
probably benign |
Het |
| Tle4 |
A |
G |
19: 14,444,078 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,901,266 (GRCm39) |
S1027P |
probably benign |
Het |
| Tpm3 |
T |
A |
3: 89,994,968 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,158,960 (GRCm39) |
F2438L |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,287,075 (GRCm39) |
F640L |
probably benign |
Het |
| Vmn1r20 |
T |
G |
6: 57,409,290 (GRCm39) |
H205Q |
probably damaging |
Het |
| Wbp2 |
T |
C |
11: 115,970,614 (GRCm39) |
|
probably null |
Het |
| Xirp1 |
T |
C |
9: 119,846,520 (GRCm39) |
I788V |
probably benign |
Het |
| Zc3hav1 |
A |
G |
6: 38,296,637 (GRCm39) |
|
probably null |
Het |
| Zfp687 |
A |
G |
3: 94,918,767 (GRCm39) |
I335T |
probably damaging |
Het |
| Zfpm1 |
A |
G |
8: 123,061,227 (GRCm39) |
Y264C |
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 |
|
IGL03195:Boc
|
APN |
16 |
44,313,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAGCGACTTGATTCAGCTTCAC -3'
(R):5'- TGATCAGGGCCACTAACACCTTCC -3'
Sequencing Primer
(F):5'- CAGGGTCGTACCTTACGATG -3'
(R):5'- ACTAACACCTTCCCCCCTTC -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation