Incidental Mutation 'R4385:Boc'
| ID |
326190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
041124-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4385 (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 T
at 44311545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 726
(L726H)
|
| 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: ENSMUST00000023370
AA Change: L726H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: L726H
| 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 damaging
Transcript: ENSMUST00000114634
AA Change: L726H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: L726H
| 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 |
0.7304 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,259,065 (GRCm39) |
I426N |
probably damaging |
Het |
| Abcc6 |
C |
T |
7: 45,644,752 (GRCm39) |
V808I |
possibly damaging |
Het |
| Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
| Apbb1 |
A |
G |
7: 105,216,483 (GRCm39) |
S140P |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 14,980,157 (GRCm39) |
C132* |
probably null |
Het |
| Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,425,640 (GRCm39) |
R59G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,785,568 (GRCm39) |
R441G |
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,309,424 (GRCm39) |
I226V |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,312,546 (GRCm39) |
T340S |
possibly damaging |
Het |
| Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
| Col5a1 |
A |
C |
2: 27,914,791 (GRCm39) |
M136L |
probably damaging |
Het |
| Coro2a |
A |
T |
4: 46,541,961 (GRCm39) |
I387N |
possibly damaging |
Het |
| Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
| Cyfip2 |
C |
T |
11: 46,133,230 (GRCm39) |
M823I |
probably benign |
Het |
| Dcbld2 |
A |
G |
16: 58,283,429 (GRCm39) |
K555E |
probably damaging |
Het |
| Dpep3 |
A |
G |
8: 106,704,818 (GRCm39) |
M164T |
probably damaging |
Het |
| Flg |
C |
A |
3: 93,200,316 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
| Ift172 |
T |
C |
5: 31,444,311 (GRCm39) |
D37G |
probably damaging |
Het |
| Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Klk1 |
A |
T |
7: 43,877,993 (GRCm39) |
D83V |
probably benign |
Het |
| Klk1b9 |
T |
C |
7: 43,443,699 (GRCm39) |
V71A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,460,607 (GRCm39) |
K806R |
probably damaging |
Het |
| Metap1 |
T |
C |
3: 138,180,824 (GRCm39) |
E119G |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,908,059 (GRCm39) |
H1351R |
possibly damaging |
Het |
| Nim1k |
T |
C |
13: 120,174,162 (GRCm39) |
D244G |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,193,110 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,386,322 (GRCm39) |
D1136G |
probably damaging |
Het |
| Pde6b |
A |
G |
5: 108,575,508 (GRCm39) |
I657V |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,129 (GRCm39) |
V55A |
probably benign |
Het |
| Plxnb2 |
T |
C |
15: 89,044,826 (GRCm39) |
N1173S |
probably damaging |
Het |
| Pramel23 |
C |
T |
4: 143,424,584 (GRCm39) |
|
probably null |
Het |
| Ptpn13 |
T |
C |
5: 103,681,273 (GRCm39) |
|
probably null |
Het |
| Ptprb |
A |
G |
10: 116,182,772 (GRCm39) |
S1483G |
probably benign |
Het |
| Rbm48 |
G |
A |
5: 3,640,300 (GRCm39) |
P360S |
probably damaging |
Het |
| Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,227,706 (GRCm39) |
S251P |
possibly damaging |
Het |
| Rfpl4 |
A |
G |
7: 5,113,669 (GRCm39) |
S165P |
possibly damaging |
Het |
| Scn9a |
A |
T |
2: 66,314,900 (GRCm39) |
L1595Q |
probably damaging |
Het |
| Scp2 |
A |
T |
4: 107,928,547 (GRCm39) |
V381D |
probably damaging |
Het |
| Sec24c |
G |
A |
14: 20,740,841 (GRCm39) |
V620M |
probably damaging |
Het |
| Slc30a9 |
T |
C |
5: 67,473,110 (GRCm39) |
Y65H |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,178,599 (GRCm39) |
I841T |
probably benign |
Het |
| Sp140l1 |
C |
T |
1: 85,087,057 (GRCm39) |
|
probably null |
Het |
| Spag7 |
C |
T |
11: 70,560,029 (GRCm39) |
A27T |
probably damaging |
Het |
| St6galnac6 |
A |
G |
2: 32,505,036 (GRCm39) |
I181V |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,236,372 (GRCm39) |
M130V |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,565 (GRCm39) |
S238F |
probably benign |
Het |
| Usp9y |
G |
A |
Y: 1,304,756 (GRCm39) |
L2363F |
probably damaging |
Het |
| Vmn1r34 |
T |
A |
6: 66,614,123 (GRCm39) |
H205L |
probably damaging |
Het |
| Vps50 |
C |
A |
6: 3,516,694 (GRCm39) |
Q59K |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,913,074 (GRCm39) |
D39V |
probably damaging |
Het |
| Zfp146 |
G |
A |
7: 29,861,847 (GRCm39) |
T65I |
probably benign |
Het |
| Zfp36 |
T |
C |
7: 28,077,116 (GRCm39) |
D264G |
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 |
|
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'- AAGGCTTGAGATTCCCTGTGG -3'
(R):5'- CAGGAAGACTCTCCCTTACAGG -3'
Sequencing Primer
(F):5'- TCCCTGTGGTATCGGGTAAAAAGC -3'
(R):5'- GGAAGACTCTCCCTTACAGGTATTTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation