Incidental Mutation 'R9238:Boc'
| ID |
700611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
068987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9238 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44311021 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 738
(T738A)
|
| 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: T738A
| 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: 98.6%
|
| Validation Efficiency |
98% (47/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agfg2 |
C |
A |
5: 137,653,622 (GRCm39) |
V365F |
probably damaging |
Het |
| Atxn7 |
A |
T |
14: 14,089,441 (GRCm38) |
N319I |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,858,087 (GRCm39) |
V13M |
unknown |
Het |
| C2cd5 |
A |
G |
6: 143,027,127 (GRCm39) |
V126A |
possibly damaging |
Het |
| Cdk9 |
A |
T |
2: 32,598,273 (GRCm39) |
L261Q |
possibly damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,115,685 (GRCm39) |
L231P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,399,027 (GRCm39) |
C604S |
probably null |
Het |
| Dop1a |
T |
C |
9: 86,415,027 (GRCm39) |
V1923A |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,546,018 (GRCm39) |
S230P |
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,274 (GRCm39) |
E892G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,705,871 (GRCm39) |
T1133A |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,832,220 (GRCm39) |
I1518F |
possibly damaging |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,813,508 (GRCm39) |
C2580S |
probably damaging |
Het |
| Ino80b |
T |
A |
6: 83,102,314 (GRCm39) |
|
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,009,889 (GRCm39) |
R1274G |
probably damaging |
Het |
| Lcn12 |
A |
G |
2: 25,382,273 (GRCm39) |
I144T |
possibly damaging |
Het |
| Lrrc37 |
G |
T |
11: 103,509,859 (GRCm39) |
P703Q |
unknown |
Het |
| Mroh5 |
T |
C |
15: 73,663,586 (GRCm39) |
N158S |
probably benign |
Het |
| Mtpap |
G |
T |
18: 4,396,439 (GRCm39) |
G577V |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,325,177 (GRCm39) |
V967A |
possibly damaging |
Het |
| Ndufa11 |
T |
C |
17: 57,028,112 (GRCm39) |
Y61H |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,144,530 (GRCm39) |
N602K |
probably damaging |
Het |
| Nubp1 |
C |
A |
16: 10,231,604 (GRCm39) |
T85K |
probably benign |
Het |
| Oosp3 |
A |
G |
19: 11,676,753 (GRCm39) |
I37M |
probably damaging |
Het |
| Optn |
A |
G |
2: 5,057,951 (GRCm39) |
S73P |
probably damaging |
Het |
| Or10j3 |
T |
C |
1: 173,031,352 (GRCm39) |
I143T |
probably benign |
Het |
| Or2y15 |
A |
G |
11: 49,350,529 (GRCm39) |
T8A |
probably benign |
Het |
| Osmr |
T |
G |
15: 6,846,086 (GRCm39) |
I779L |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,190 (GRCm39) |
D370G |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,550,570 (GRCm39) |
S571P |
probably benign |
Het |
| Pgbd5 |
A |
G |
8: 125,106,930 (GRCm39) |
I204T |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,604,799 (GRCm39) |
I1172T |
possibly damaging |
Het |
| Plch1 |
T |
A |
3: 63,606,412 (GRCm39) |
H1164L |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,099,954 (GRCm39) |
F156L |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,561,017 (GRCm39) |
E274G |
possibly damaging |
Het |
| Serpinb9 |
A |
G |
13: 33,199,479 (GRCm39) |
D258G |
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,265,733 (GRCm39) |
|
probably null |
Het |
| Slco1a7 |
G |
T |
6: 141,686,153 (GRCm39) |
T229K |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,528,447 (GRCm39) |
T1568N |
probably damaging |
Het |
| Ston2 |
T |
C |
12: 91,615,461 (GRCm39) |
T316A |
probably benign |
Het |
| Tacc1 |
A |
T |
8: 25,672,634 (GRCm39) |
M198K |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,710,652 (GRCm39) |
F76S |
probably damaging |
Het |
| Tspyl5 |
T |
C |
15: 33,687,082 (GRCm39) |
I288V |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,503 (GRCm39) |
S414F |
probably benign |
Het |
| Zfp141 |
G |
A |
7: 42,125,111 (GRCm39) |
R454* |
probably null |
Het |
| Zscan22 |
T |
A |
7: 12,641,075 (GRCm39) |
C440S |
probably damaging |
Het |
| Zscan4-ps2 |
A |
T |
7: 11,251,339 (GRCm39) |
Q153L |
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 |
|
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 |
|
|
|
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'- TGGATAGCTCCACGTGTGTC -3'
(R):5'- TGCAGCCTTCTTCAGAGAACC -3'
Sequencing Primer
(F):5'- AGCTCCACGTGTGTCATAAG -3'
(R):5'- TCAGAGAACCTGAGGGACTTATTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation