Incidental Mutation 'R6021:Boc'
| ID |
478968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Boc
|
| Ensembl Gene |
ENSMUSG00000022687 |
| Gene Name |
BOC cell adhesion associated, oncogene regulated |
| Synonyms |
|
| MMRRC Submission |
044194-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
44305408-44379233 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44309017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 832
(M832L)
|
| 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: M832L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023370
Gene: ENSMUSG00000022687
AA Change: M832L
| 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: M832L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110281
Gene: ENSMUSG00000022687
AA Change: M832L
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
94% (61/65) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
G |
4: 123,754,509 (GRCm39) |
D141G |
possibly damaging |
Het |
| A1bg |
T |
C |
15: 60,791,713 (GRCm39) |
E241G |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,240,465 (GRCm39) |
W776* |
probably null |
Het |
| Akr1b10 |
T |
A |
6: 34,369,309 (GRCm39) |
|
probably null |
Het |
| Aopep |
A |
G |
13: 63,208,896 (GRCm39) |
T338A |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,465,908 (GRCm39) |
D84G |
probably benign |
Het |
| AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
| Azi2 |
T |
A |
9: 117,876,487 (GRCm39) |
M1K |
probably null |
Het |
| Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,034,225 (GRCm39) |
L1050P |
probably benign |
Het |
| Celsr2 |
G |
T |
3: 108,308,561 (GRCm39) |
P1789T |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,903,282 (GRCm39) |
R1986C |
probably damaging |
Het |
| Crtam |
T |
A |
9: 40,901,477 (GRCm39) |
I150F |
probably damaging |
Het |
| Crybg1 |
G |
T |
10: 43,873,534 (GRCm39) |
S1191R |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,167,552 (GRCm39) |
T1017A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,814,048 (GRCm39) |
E396G |
probably damaging |
Het |
| Enpp5 |
A |
T |
17: 44,396,210 (GRCm39) |
Y374F |
probably benign |
Het |
| Fzd4 |
G |
A |
7: 89,056,942 (GRCm39) |
A330T |
probably benign |
Het |
| Gabra5 |
A |
G |
7: 57,157,740 (GRCm39) |
S25P |
probably benign |
Het |
| Get1 |
T |
C |
16: 95,946,878 (GRCm39) |
|
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,589 (GRCm39) |
Y198C |
probably damaging |
Het |
| Gm3173 |
A |
C |
14: 15,728,458 (GRCm39) |
D39A |
probably damaging |
Het |
| Grm2 |
T |
C |
9: 106,527,999 (GRCm39) |
D295G |
probably damaging |
Het |
| H2-T13 |
T |
G |
17: 36,392,166 (GRCm39) |
E182A |
probably damaging |
Het |
| Igfbp5 |
A |
G |
1: 72,902,363 (GRCm39) |
M208T |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,131,173 (GRCm39) |
M343K |
possibly damaging |
Het |
| Kif19b |
A |
T |
5: 140,455,434 (GRCm39) |
M347L |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,499,946 (GRCm39) |
D120V |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,413,883 (GRCm39) |
D1175G |
probably damaging |
Het |
| Lrp1b |
C |
A |
2: 41,234,439 (GRCm39) |
D1171Y |
probably benign |
Het |
| Lrrc9 |
A |
T |
12: 72,516,005 (GRCm39) |
I563F |
probably damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,803,708 (GRCm39) |
T798S |
probably benign |
Het |
| Msantd4 |
T |
A |
9: 4,384,063 (GRCm39) |
V128E |
probably benign |
Het |
| Mtf2 |
A |
G |
5: 108,229,003 (GRCm39) |
I69V |
possibly damaging |
Het |
| Myh10 |
T |
A |
11: 68,699,688 (GRCm39) |
S1712T |
possibly damaging |
Het |
| Mylk3 |
A |
G |
8: 86,091,442 (GRCm39) |
V121A |
possibly damaging |
Het |
| Ndufaf4 |
A |
G |
4: 24,901,760 (GRCm39) |
N100D |
probably benign |
Het |
| Notch2 |
T |
C |
3: 98,029,288 (GRCm39) |
F1017S |
probably damaging |
Het |
| Or4a27 |
G |
T |
2: 88,559,294 (GRCm39) |
Y216* |
probably null |
Het |
| Or4a80 |
A |
C |
2: 89,582,465 (GRCm39) |
S236A |
probably benign |
Het |
| Or4c108 |
G |
T |
2: 88,803,376 (GRCm39) |
Y286* |
probably null |
Het |
| P2ry2 |
T |
C |
7: 100,647,607 (GRCm39) |
T233A |
probably benign |
Het |
| Paip1 |
T |
"TTA,TT" |
13: 119,593,671 (GRCm39) |
|
probably null |
Het |
| Pak1 |
T |
C |
7: 97,503,670 (GRCm39) |
S2P |
probably damaging |
Het |
| Pde8b |
A |
T |
13: 95,162,670 (GRCm39) |
D817E |
possibly damaging |
Het |
| Pfdn2 |
C |
A |
1: 171,173,338 (GRCm39) |
|
probably benign |
Het |
| Pramel28 |
A |
T |
4: 143,692,336 (GRCm39) |
C222S |
probably benign |
Het |
| Raver1 |
A |
G |
9: 20,987,918 (GRCm39) |
L606P |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,333,829 (GRCm39) |
W668* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Rxfp2 |
A |
G |
5: 149,987,202 (GRCm39) |
N337S |
possibly damaging |
Het |
| Samhd1 |
T |
C |
2: 156,962,474 (GRCm39) |
|
probably null |
Het |
| Sardh |
A |
G |
2: 27,079,655 (GRCm39) |
V879A |
probably benign |
Het |
| Slc4a4 |
A |
T |
5: 89,188,261 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
C |
6: 114,207,012 (GRCm39) |
L332P |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,321 (GRCm39) |
Y287H |
probably damaging |
Het |
| Tlr4 |
T |
A |
4: 66,759,103 (GRCm39) |
I632N |
probably damaging |
Het |
| Tmem145 |
C |
T |
7: 25,008,270 (GRCm39) |
|
probably null |
Het |
| Trmt61a |
C |
A |
12: 111,647,411 (GRCm39) |
F169L |
probably damaging |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,391 (GRCm39) |
I95L |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,616 (GRCm39) |
E176G |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,820,820 (GRCm39) |
D38G |
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,598,210 (GRCm39) |
Y78C |
probably damaging |
Het |
| Zfp964 |
G |
T |
8: 70,115,742 (GRCm39) |
S114I |
unknown |
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 |
|
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'- TTGGTGAGCTGAGAGGCATC -3'
(R):5'- ATTGAGTCCCCTGTCTTGGG -3'
Sequencing Primer
(F):5'- GAGGCATCTCCCCTCCTTC -3'
(R):5'- GGGATCTAGGCCCCATTTCCTATG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation