Incidental Mutation 'R5651:Boc'
ID |
441445 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Boc
|
Ensembl Gene |
ENSMUSG00000022687 |
Gene Name |
BOC cell adhesion associated, oncogene regulated |
Synonyms |
|
MMRRC Submission |
043297-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5651 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 44341558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 16
(I16F)
|
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: I16F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023370 Gene: ENSMUSG00000022687 AA Change: I16F
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: I16F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110281 Gene: ENSMUSG00000022687 AA Change: I16F
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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik2 |
G |
A |
11: 48,910,700 (GRCm39) |
H578Y |
probably damaging |
Het |
Atp11b |
A |
G |
3: 35,909,289 (GRCm39) |
D1161G |
probably damaging |
Het |
Atp8b1 |
G |
C |
18: 64,664,453 (GRCm39) |
I1238M |
probably benign |
Het |
AY358078 |
T |
A |
14: 52,059,617 (GRCm39) |
V318D |
unknown |
Het |
B020004C17Rik |
C |
T |
14: 57,252,689 (GRCm39) |
|
probably benign |
Het |
Brinp3 |
A |
T |
1: 146,577,537 (GRCm39) |
T191S |
probably benign |
Het |
Cald1 |
T |
A |
6: 34,739,255 (GRCm39) |
N419K |
probably damaging |
Het |
Cecr2 |
G |
A |
6: 120,732,521 (GRCm39) |
G471D |
probably damaging |
Het |
Cftr |
T |
A |
6: 18,255,364 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
T |
A |
19: 39,449,156 (GRCm39) |
T66S |
probably damaging |
Het |
Fbxo11 |
A |
T |
17: 88,323,136 (GRCm39) |
D83E |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,257 (GRCm39) |
M474L |
possibly damaging |
Het |
Hhla1 |
T |
A |
15: 65,813,663 (GRCm39) |
E223V |
probably damaging |
Het |
Hnrnpa1 |
G |
C |
15: 103,148,955 (GRCm39) |
E5D |
possibly damaging |
Het |
Htr2a |
T |
A |
14: 74,943,143 (GRCm39) |
V241E |
probably damaging |
Het |
Ier5 |
T |
C |
1: 154,974,491 (GRCm39) |
E229G |
possibly damaging |
Het |
Inka2 |
C |
A |
3: 105,623,748 (GRCm39) |
Q22K |
probably damaging |
Het |
Krt87 |
A |
T |
15: 101,331,910 (GRCm39) |
M276K |
possibly damaging |
Het |
Mast1 |
G |
C |
8: 85,655,597 (GRCm39) |
Y182* |
probably null |
Het |
Mia3 |
T |
A |
1: 183,139,998 (GRCm39) |
D239V |
probably damaging |
Het |
Mmut |
T |
A |
17: 41,258,002 (GRCm39) |
D389E |
probably damaging |
Het |
Mpp7 |
A |
G |
18: 7,355,016 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
A |
G |
14: 103,520,101 (GRCm39) |
C739R |
probably null |
Het |
Or13e8 |
C |
G |
4: 43,696,636 (GRCm39) |
C179S |
probably damaging |
Het |
Or5k14 |
A |
G |
16: 58,692,847 (GRCm39) |
L222P |
probably damaging |
Het |
Or8k21 |
A |
G |
2: 86,144,784 (GRCm39) |
I282T |
probably benign |
Het |
Or9e1 |
A |
T |
11: 58,732,317 (GRCm39) |
R126* |
probably null |
Het |
Palld |
A |
T |
8: 61,991,822 (GRCm39) |
I510N |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,074,589 (GRCm39) |
E381G |
probably damaging |
Het |
Phldb1 |
G |
A |
9: 44,623,200 (GRCm39) |
T618I |
probably damaging |
Het |
Pkd1 |
A |
G |
17: 24,810,361 (GRCm39) |
E3631G |
possibly damaging |
Het |
Pkhd1 |
C |
T |
1: 20,188,031 (GRCm39) |
V3426I |
probably benign |
Het |
Plk4 |
A |
G |
3: 40,767,940 (GRCm39) |
T828A |
probably benign |
Het |
Psmb5 |
C |
T |
14: 54,854,221 (GRCm39) |
A86T |
possibly damaging |
Het |
Rasal2 |
A |
G |
1: 156,984,951 (GRCm39) |
V907A |
probably damaging |
Het |
Rxra |
C |
T |
2: 27,627,353 (GRCm39) |
T24M |
probably benign |
Het |
Senp1 |
A |
G |
15: 97,974,498 (GRCm39) |
S105P |
probably benign |
Het |
Sh3rf1 |
A |
G |
8: 61,816,201 (GRCm39) |
D486G |
probably damaging |
Het |
Slc49a4 |
G |
A |
16: 35,555,986 (GRCm39) |
A158V |
probably benign |
Het |
Slfn5 |
A |
C |
11: 82,851,490 (GRCm39) |
N596H |
probably benign |
Het |
Tanc2 |
T |
A |
11: 105,689,526 (GRCm39) |
D229E |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,479,455 (GRCm39) |
K57E |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,343,212 (GRCm39) |
C1135Y |
probably damaging |
Het |
V1ra8 |
T |
C |
6: 90,180,508 (GRCm39) |
L237P |
probably benign |
Het |
Vcpip1 |
G |
A |
1: 9,818,065 (GRCm39) |
T106M |
probably damaging |
Het |
Vmn1r215 |
T |
G |
13: 23,259,981 (GRCm39) |
I7S |
possibly damaging |
Het |
Vmn1r233 |
T |
A |
17: 21,214,279 (GRCm39) |
M224L |
probably benign |
Het |
Xpot |
A |
T |
10: 121,440,454 (GRCm39) |
D592E |
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 |
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'- TGTGGTACAGCCTGAAGGTC -3'
(R):5'- CTGCAAGTGTGATGGAGTGAGC -3'
Sequencing Primer
(F):5'- TCAGTAGAGATGCCGTACTCCTAAG -3'
(R):5'- AGACATTCTCACCATGGCCATTC -3'
|
Posted On |
2016-11-08 |