Incidental Mutation 'R8283:Boc'
| ID |
638341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
067706-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8283 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44340800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 50
(L50Q)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114634]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000023370
AA Change: L50Q
|
| SMART Domains |
Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: L50Q
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: L50Q
| 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: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
T |
5: 8,856,086 (GRCm39) |
P65S |
probably damaging |
Het |
| Adcy3 |
A |
T |
12: 4,250,935 (GRCm39) |
R565W |
probably damaging |
Het |
| Arl14 |
A |
T |
3: 69,129,868 (GRCm39) |
N5I |
probably benign |
Het |
| Arl6ip6 |
A |
G |
2: 53,082,250 (GRCm39) |
E39G |
possibly damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Calml3 |
A |
G |
13: 3,854,097 (GRCm39) |
V36A |
probably damaging |
Het |
| Ccdc183 |
G |
A |
2: 25,502,160 (GRCm39) |
A238V |
probably damaging |
Het |
| Ccndbp1 |
A |
G |
2: 120,839,065 (GRCm39) |
|
probably benign |
Het |
| Ccr9 |
A |
G |
9: 123,608,696 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cdhr1 |
T |
C |
14: 36,804,737 (GRCm39) |
N491S |
probably benign |
Het |
| Celsr2 |
C |
T |
3: 108,303,771 (GRCm39) |
G2429D |
probably damaging |
Het |
| Cts6 |
T |
C |
13: 61,349,457 (GRCm39) |
T84A |
probably damaging |
Het |
| Dcpp2 |
T |
C |
17: 24,118,384 (GRCm39) |
|
probably null |
Het |
| Drosha |
A |
G |
15: 12,890,587 (GRCm39) |
I945V |
possibly damaging |
Het |
| Dsg1b |
A |
G |
18: 20,524,963 (GRCm39) |
Q133R |
probably benign |
Het |
| Enpp1 |
T |
A |
10: 24,550,554 (GRCm39) |
E174D |
probably benign |
Het |
| Esrrb |
A |
G |
12: 86,468,732 (GRCm39) |
H15R |
probably benign |
Het |
| Fbxl12 |
T |
C |
9: 20,550,017 (GRCm39) |
T213A |
probably benign |
Het |
| Fnbp4 |
C |
A |
2: 90,577,115 (GRCm39) |
T149K |
probably damaging |
Het |
| Foxj1 |
A |
T |
11: 116,224,893 (GRCm39) |
F158Y |
probably benign |
Het |
| Frrs1 |
A |
G |
3: 116,671,952 (GRCm39) |
T17A |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm45844 |
T |
C |
7: 7,244,901 (GRCm39) |
Y11C |
possibly damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,697 (GRCm39) |
V220A |
|
Het |
| Iars2 |
T |
A |
1: 185,020,288 (GRCm39) |
R949* |
probably null |
Het |
| Ice1 |
T |
C |
13: 70,752,549 (GRCm39) |
E1179G |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,895,177 (GRCm39) |
L782P |
probably damaging |
Het |
| Mcmdc2 |
A |
C |
1: 10,004,263 (GRCm39) |
K581T |
possibly damaging |
Het |
| Men1 |
A |
T |
19: 6,386,848 (GRCm39) |
D186V |
probably damaging |
Het |
| Morc2b |
T |
G |
17: 33,355,675 (GRCm39) |
N699T |
probably benign |
Het |
| Mrgpra2b |
A |
G |
7: 47,114,465 (GRCm39) |
L89P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,695 (GRCm39) |
G490E |
probably damaging |
Het |
| Ntm |
T |
C |
9: 28,923,508 (GRCm39) |
Y224C |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,849,166 (GRCm39) |
D262E |
probably benign |
Het |
| Or10ag52 |
T |
C |
2: 87,043,683 (GRCm39) |
V149A |
probably benign |
Het |
| Or51l4 |
T |
A |
7: 103,404,019 (GRCm39) |
I258L |
possibly damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Oscp1 |
A |
G |
4: 125,980,393 (GRCm39) |
M293V |
probably benign |
Het |
| Pcdhgc3 |
C |
A |
18: 37,940,694 (GRCm39) |
A365D |
probably damaging |
Het |
| Pcyt2 |
A |
T |
11: 120,501,548 (GRCm39) |
F388I |
probably benign |
Het |
| Pgm2l1 |
C |
G |
7: 99,902,460 (GRCm39) |
A136G |
probably benign |
Het |
| Phf14 |
T |
G |
6: 11,987,636 (GRCm39) |
D638E |
probably benign |
Het |
| Pnpla7 |
A |
G |
2: 24,940,935 (GRCm39) |
K1096E |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,199,948 (GRCm39) |
C586* |
probably null |
Het |
| Rnf187 |
T |
A |
11: 58,829,241 (GRCm39) |
R124W |
probably damaging |
Het |
| Sema3a |
T |
C |
5: 13,450,030 (GRCm39) |
Y36H |
probably damaging |
Het |
| Setd7 |
T |
G |
3: 51,428,796 (GRCm39) |
S345R |
probably benign |
Het |
| Sgms1 |
T |
C |
19: 32,137,035 (GRCm39) |
D177G |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,374,522 (GRCm39) |
L927S |
possibly damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,942,294 (GRCm39) |
D977G |
probably damaging |
Het |
| Sptan1 |
C |
T |
2: 29,870,212 (GRCm39) |
R121W |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,291,771 (GRCm39) |
D152G |
probably damaging |
Het |
| Suclg2 |
T |
A |
6: 95,474,700 (GRCm39) |
|
probably null |
Het |
| Tacc2 |
T |
C |
7: 130,227,034 (GRCm39) |
S1240P |
probably benign |
Het |
| Tbc1d12 |
C |
T |
19: 38,825,353 (GRCm39) |
A68V |
probably benign |
Het |
| Tex14 |
G |
A |
11: 87,365,241 (GRCm39) |
D62N |
probably damaging |
Het |
| Thyn1 |
C |
T |
9: 26,918,155 (GRCm39) |
T181I |
probably benign |
Het |
| Trio |
T |
A |
15: 27,756,628 (GRCm39) |
H2056L |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,475,663 (GRCm39) |
L1207Q |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,490,013 (GRCm39) |
S305G |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,832,253 (GRCm39) |
Y750N |
probably damaging |
Het |
| Wif1 |
G |
A |
10: 120,931,952 (GRCm39) |
S292N |
probably benign |
Het |
| Xpo6 |
T |
G |
7: 125,727,421 (GRCm39) |
Q528H |
possibly 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 |
|
|
|
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'- AGTACACTCACTGGCTAGCGTC -3'
(R):5'- AAATTCTGGATGGCCACCTG -3'
Sequencing Primer
(F):5'- TCACTGGCTAGCGTCACTGTG -3'
(R):5'- GGGTGCCATCTAGAGCTTCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation