Incidental Mutation 'R5645:Boc'
ID |
441104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Boc
|
Ensembl Gene |
ENSMUSG00000022687 |
Gene Name |
BOC cell adhesion associated, oncogene regulated |
Synonyms |
|
MMRRC Submission |
043293-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5645 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44320024 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 320
(V320A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114634]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023370
AA Change: V320A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023370 Gene: ENSMUSG00000022687 AA Change: V320A
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: V320A
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110281 Gene: ENSMUSG00000022687 AA Change: V320A
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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
A |
G |
9: 108,274,403 (GRCm39) |
I169V |
probably damaging |
Het |
4930503B20Rik |
C |
T |
3: 146,356,264 (GRCm39) |
E215K |
probably damaging |
Het |
Abca6 |
T |
C |
11: 110,141,234 (GRCm39) |
E29G |
probably damaging |
Het |
Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
Adamts12 |
A |
G |
15: 11,277,506 (GRCm39) |
T707A |
possibly damaging |
Het |
Adcy2 |
C |
A |
13: 68,877,321 (GRCm39) |
|
probably null |
Het |
Agbl4 |
A |
T |
4: 111,514,527 (GRCm39) |
I513F |
possibly damaging |
Het |
Ak5 |
A |
T |
3: 152,361,670 (GRCm39) |
M84K |
possibly damaging |
Het |
Akap1 |
T |
C |
11: 88,736,453 (GRCm39) |
T103A |
probably benign |
Het |
Akap9 |
A |
G |
5: 4,100,590 (GRCm39) |
T2751A |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,627,462 (GRCm39) |
H567L |
possibly damaging |
Het |
Ano6 |
A |
G |
15: 95,818,232 (GRCm39) |
Y325C |
probably benign |
Het |
Apba2 |
A |
G |
7: 64,345,554 (GRCm39) |
E248G |
possibly damaging |
Het |
Asap2 |
T |
A |
12: 21,315,983 (GRCm39) |
V967E |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,932,961 (GRCm39) |
V976E |
probably damaging |
Het |
Car13 |
T |
A |
3: 14,710,180 (GRCm39) |
Y41N |
possibly damaging |
Het |
Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
Cep295 |
C |
A |
9: 15,246,404 (GRCm39) |
S684I |
possibly damaging |
Het |
Cep295 |
A |
T |
9: 15,244,090 (GRCm39) |
H1455Q |
probably damaging |
Het |
Cr2 |
G |
T |
1: 194,836,581 (GRCm39) |
H861N |
probably damaging |
Het |
Cul5 |
T |
C |
9: 53,534,243 (GRCm39) |
I630V |
probably benign |
Het |
Cyp2c37 |
G |
A |
19: 39,982,596 (GRCm39) |
V145I |
probably benign |
Het |
Dnmt1 |
G |
A |
9: 20,833,443 (GRCm39) |
T500M |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
Fam161a |
T |
A |
11: 22,965,725 (GRCm39) |
I6N |
probably damaging |
Het |
Fry |
T |
C |
5: 150,304,332 (GRCm39) |
V574A |
probably damaging |
Het |
Glb1l3 |
G |
T |
9: 26,736,122 (GRCm39) |
L553I |
probably benign |
Het |
Gm1123 |
T |
C |
9: 98,896,244 (GRCm39) |
D212G |
probably benign |
Het |
Grin2a |
T |
A |
16: 9,810,090 (GRCm39) |
D103V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,527,333 (GRCm39) |
I98V |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,310,824 (GRCm39) |
T3356N |
possibly damaging |
Het |
Hpf1 |
T |
G |
8: 61,349,834 (GRCm39) |
I154S |
possibly damaging |
Het |
Ifnar2 |
A |
G |
16: 91,201,115 (GRCm39) |
D452G |
possibly damaging |
Het |
Iqcc |
A |
T |
4: 129,510,320 (GRCm39) |
H398Q |
possibly damaging |
Het |
Iqgap3 |
T |
C |
3: 88,025,006 (GRCm39) |
I669T |
probably damaging |
Het |
Itgae |
A |
G |
11: 73,020,074 (GRCm39) |
T859A |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,503 (GRCm39) |
M266V |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,331,426 (GRCm39) |
D600G |
possibly damaging |
Het |
Klf13 |
G |
A |
7: 63,541,348 (GRCm39) |
|
probably benign |
Het |
Kmt2d |
A |
G |
15: 98,742,278 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,109,943 (GRCm39) |
D2188G |
probably damaging |
Het |
Leng8 |
A |
G |
7: 4,148,273 (GRCm39) |
T682A |
probably damaging |
Het |
Mab21l4 |
T |
C |
1: 93,080,668 (GRCm39) |
T413A |
probably damaging |
Het |
Mslnl |
G |
T |
17: 25,956,816 (GRCm39) |
G34V |
possibly damaging |
Het |
Mycbp2 |
A |
T |
14: 103,426,044 (GRCm39) |
S2360R |
probably damaging |
Het |
Mycbp2 |
C |
A |
14: 103,426,051 (GRCm39) |
|
probably null |
Het |
Nkx2-2 |
T |
C |
2: 147,026,319 (GRCm39) |
T140A |
probably damaging |
Het |
Or11h6 |
T |
C |
14: 50,880,524 (GRCm39) |
V262A |
probably benign |
Het |
Or4c125 |
A |
T |
2: 89,170,049 (GRCm39) |
V199E |
possibly damaging |
Het |
Oser1 |
C |
T |
2: 163,248,965 (GRCm39) |
R79H |
probably damaging |
Het |
Pfas |
A |
G |
11: 68,881,958 (GRCm39) |
V909A |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,396,388 (GRCm39) |
E1970G |
probably benign |
Het |
Prph2 |
G |
T |
17: 47,221,593 (GRCm39) |
|
probably benign |
Het |
Rusc2 |
G |
T |
4: 43,425,758 (GRCm39) |
A1288S |
probably benign |
Het |
Scart2 |
G |
A |
7: 139,828,853 (GRCm39) |
V171I |
possibly damaging |
Het |
Sdha |
A |
G |
13: 74,471,958 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
G |
2: 26,329,907 (GRCm39) |
T703P |
probably benign |
Het |
Senp7 |
T |
A |
16: 55,993,571 (GRCm39) |
N724K |
possibly damaging |
Het |
Skint1 |
A |
G |
4: 111,882,699 (GRCm39) |
I248V |
probably benign |
Het |
Slc9a5 |
T |
C |
8: 106,083,645 (GRCm39) |
V395A |
probably benign |
Het |
Slco1a4 |
T |
C |
6: 141,780,385 (GRCm39) |
N135S |
possibly damaging |
Het |
Sncaip |
A |
G |
18: 53,028,028 (GRCm39) |
I412M |
probably damaging |
Het |
Tacc2 |
A |
T |
7: 130,225,781 (GRCm39) |
D841V |
possibly damaging |
Het |
Tekt1 |
A |
T |
11: 72,242,663 (GRCm39) |
H281Q |
probably benign |
Het |
Tex46 |
G |
T |
4: 136,340,228 (GRCm39) |
M104I |
probably benign |
Het |
Tjp3 |
T |
C |
10: 81,114,454 (GRCm39) |
|
probably null |
Het |
Treh |
A |
G |
9: 44,593,975 (GRCm39) |
Y154C |
probably damaging |
Het |
Trim80 |
T |
A |
11: 115,337,611 (GRCm39) |
L428Q |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,830,968 (GRCm39) |
K1278E |
probably damaging |
Het |
Tut4 |
G |
A |
4: 108,414,570 (GRCm39) |
R49H |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,325,024 (GRCm39) |
M990T |
possibly damaging |
Het |
Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
Ywhae |
T |
C |
11: 75,647,750 (GRCm39) |
M160T |
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 |
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'- ATGCACTGGTACACGCCTTC -3'
(R):5'- ACTTAGGCCCTGGGTATTGG -3'
Sequencing Primer
(F):5'- GTCCTCTGGCCCAACACTGAC -3'
(R):5'- ATTGGTGTAGTCTTTGTCACCTAG -3'
|
Posted On |
2016-11-08 |