Incidental Mutation 'R4382:Boc'
ID |
325391 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Boc
|
Ensembl Gene |
ENSMUSG00000022687 |
Gene Name |
BOC cell adhesion associated, oncogene regulated |
Synonyms |
|
MMRRC Submission |
041679-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4382 (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: 97.0%
- 20x: 94.6%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
A |
4: 144,281,596 (GRCm39) |
T399S |
possibly damaging |
Het |
Acp2 |
T |
C |
2: 91,038,454 (GRCm39) |
S309P |
possibly damaging |
Het |
Adam23 |
T |
C |
1: 63,605,787 (GRCm39) |
Y624H |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,650,449 (GRCm39) |
V772A |
probably damaging |
Het |
Calr3 |
T |
A |
8: 73,182,008 (GRCm39) |
D120V |
probably damaging |
Het |
Ccdc92b |
G |
A |
11: 74,520,842 (GRCm39) |
S48N |
probably damaging |
Het |
Ceacam12 |
C |
T |
7: 17,799,959 (GRCm39) |
|
probably benign |
Het |
Clca3a1 |
T |
A |
3: 144,466,483 (GRCm39) |
M1L |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,496,407 (GRCm39) |
T300A |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,538,023 (GRCm39) |
Y2514* |
probably null |
Het |
Col6a6 |
G |
A |
9: 105,660,889 (GRCm39) |
R407W |
probably damaging |
Het |
Csnk1g1 |
T |
C |
9: 65,927,190 (GRCm39) |
V119A |
probably damaging |
Het |
Cspg4b |
T |
C |
13: 113,459,288 (GRCm39) |
I1273T |
probably benign |
Het |
Ddx60 |
G |
A |
8: 62,402,012 (GRCm39) |
|
probably null |
Het |
Dnajb12 |
A |
T |
10: 59,733,321 (GRCm39) |
K372N |
probably benign |
Het |
Fhl5 |
A |
C |
4: 25,200,118 (GRCm39) |
C239G |
probably benign |
Het |
Gad2 |
G |
A |
2: 22,575,422 (GRCm39) |
V509I |
probably benign |
Het |
Glrb |
T |
A |
3: 80,786,946 (GRCm39) |
R72S |
probably damaging |
Het |
Gm6811 |
T |
C |
17: 21,314,865 (GRCm39) |
|
noncoding transcript |
Het |
Hecw1 |
C |
T |
13: 14,490,749 (GRCm39) |
D748N |
probably damaging |
Het |
Hk2 |
A |
T |
6: 82,712,322 (GRCm39) |
L542Q |
probably null |
Het |
Iglc1 |
A |
T |
16: 18,880,508 (GRCm39) |
C104* |
probably null |
Het |
Kel |
T |
A |
6: 41,675,334 (GRCm39) |
T306S |
probably benign |
Het |
Lpo |
T |
C |
11: 87,713,027 (GRCm39) |
D25G |
probably benign |
Het |
Mboat7 |
T |
A |
7: 3,691,545 (GRCm39) |
Y109F |
possibly damaging |
Het |
Myh15 |
T |
G |
16: 48,963,306 (GRCm39) |
N1082K |
probably benign |
Het |
Nagk |
A |
G |
6: 83,774,993 (GRCm39) |
E90G |
probably benign |
Het |
Nagpa |
A |
T |
16: 5,021,819 (GRCm39) |
F10I |
possibly damaging |
Het |
Or9a4 |
T |
A |
6: 40,548,998 (GRCm39) |
L226H |
probably damaging |
Het |
Otog |
T |
A |
7: 45,939,122 (GRCm39) |
C2051S |
probably damaging |
Het |
Ptpn6 |
A |
G |
6: 124,704,361 (GRCm39) |
V315A |
possibly damaging |
Het |
Rbp3 |
G |
C |
14: 33,677,253 (GRCm39) |
E400D |
probably benign |
Het |
Rnf41 |
T |
C |
10: 128,272,392 (GRCm39) |
S140P |
probably benign |
Het |
Ros1 |
C |
T |
10: 51,997,055 (GRCm39) |
V1206I |
possibly damaging |
Het |
Scgb2b12 |
T |
A |
7: 32,024,870 (GRCm39) |
E112D |
probably benign |
Het |
Serpinb3b |
T |
A |
1: 107,083,273 (GRCm39) |
M210L |
probably damaging |
Het |
Sipa1l1 |
A |
G |
12: 82,493,596 (GRCm39) |
R1672G |
possibly damaging |
Het |
Smc5 |
A |
G |
19: 23,246,210 (GRCm39) |
S70P |
probably benign |
Het |
Spen |
C |
T |
4: 141,200,450 (GRCm39) |
G2703S |
possibly damaging |
Het |
Stard9 |
C |
G |
2: 120,464,703 (GRCm39) |
A56G |
probably damaging |
Het |
Wtap |
A |
G |
17: 13,194,307 (GRCm39) |
S87P |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,765,938 (GRCm39) |
S1488R |
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 |
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 |
|
|
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'- CTCAGGAAGACTCTCCCTTACAG -3'
Sequencing Primer
(F):5'- TCCCTGTGGTATCGGGTAAAAAGC -3'
(R):5'- GGAAGACTCTCCCTTACAGGTATTTC -3'
|
Posted On |
2015-07-06 |