Incidental Mutation 'R5234:Bcan'
| ID |
398196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcan
|
| Ensembl Gene |
ENSMUSG00000004892 |
| Gene Name |
brevican |
| Synonyms |
Cspg7 |
| MMRRC Submission |
042806-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
87894838-87907537 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87903453 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 246
(D246E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090971]
[ENSMUST00000194193]
|
| AlphaFold |
Q61361 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090971
AA Change: D246E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088491
Gene: ENSMUSG00000004892
AA Change: D246E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IGv
|
51 |
138 |
5.74e-13 |
SMART |
|
LINK
|
154 |
251 |
9.37e-55 |
SMART |
|
LINK
|
255 |
353 |
2.67e-59 |
SMART |
|
low complexity region
|
355 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
519 |
N/A |
INTRINSIC |
|
EGF
|
625 |
658 |
1.07e-5 |
SMART |
|
CLECT
|
664 |
785 |
1.15e-33 |
SMART |
|
CCP
|
791 |
847 |
2.7e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191627
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194193
|
| SMART Domains |
Protein: ENSMUSP00000141455
Gene: ENSMUSG00000004892
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Blast:IGv
|
51 |
105 |
1e-33 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194596
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lectican family of chondroitin sulfate proteoglycans that is specifically expressed in the central nervous system. This protein is developmentally regulated and may function in the formation of the brain extracellular matrix. This protein is highly expressed in gliomas and may promote the growth and cell motility of brain tumor cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in impaired LTP maintenance, but mutant animals show normal behavior and spatial learning capabilities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
| Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
| Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
| Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
| Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
| Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
| Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
| Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
| Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
| Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
| Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
| Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
| Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
| Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
| Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
| Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
| Or12e10 |
T |
C |
2: 87,641,112 (GRCm39) |
V316A |
probably benign |
Het |
| Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
| Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
| Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
| Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
| Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
| Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
| Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
| Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
| Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
| Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
| Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
| Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
| Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
| Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
possibly damaging |
Het |
|
| Other mutations in Bcan |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Bcan
|
APN |
3 |
87,901,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00981:Bcan
|
APN |
3 |
87,905,139 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02355:Bcan
|
APN |
3 |
87,901,449 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02362:Bcan
|
APN |
3 |
87,901,449 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03190:Bcan
|
APN |
3 |
87,900,357 (GRCm39) |
unclassified |
probably benign |
|
|
G1patch:Bcan
|
UTSW |
3 |
87,902,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0392:Bcan
|
UTSW |
3 |
87,900,869 (GRCm39) |
nonsense |
probably null |
|
|
R0938:Bcan
|
UTSW |
3 |
87,900,461 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1118:Bcan
|
UTSW |
3 |
87,896,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1559:Bcan
|
UTSW |
3 |
87,901,519 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1653:Bcan
|
UTSW |
3 |
87,901,503 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1699:Bcan
|
UTSW |
3 |
87,896,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Bcan
|
UTSW |
3 |
87,900,932 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1802:Bcan
|
UTSW |
3 |
87,900,415 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1870:Bcan
|
UTSW |
3 |
87,902,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Bcan
|
UTSW |
3 |
87,900,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Bcan
|
UTSW |
3 |
87,903,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2271:Bcan
|
UTSW |
3 |
87,900,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4036:Bcan
|
UTSW |
3 |
87,903,423 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4363:Bcan
|
UTSW |
3 |
87,904,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4491:Bcan
|
UTSW |
3 |
87,897,540 (GRCm39) |
nonsense |
probably null |
|
|
R5111:Bcan
|
UTSW |
3 |
87,901,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Bcan
|
UTSW |
3 |
87,901,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5167:Bcan
|
UTSW |
3 |
87,901,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Bcan
|
UTSW |
3 |
87,902,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5365:Bcan
|
UTSW |
3 |
87,896,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5544:Bcan
|
UTSW |
3 |
87,900,360 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5663:Bcan
|
UTSW |
3 |
87,902,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6044:Bcan
|
UTSW |
3 |
87,902,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Bcan
|
UTSW |
3 |
87,903,904 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6725:Bcan
|
UTSW |
3 |
87,902,791 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6764:Bcan
|
UTSW |
3 |
87,895,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7000:Bcan
|
UTSW |
3 |
87,895,686 (GRCm39) |
nonsense |
probably null |
|
|
R7294:Bcan
|
UTSW |
3 |
87,902,831 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7338:Bcan
|
UTSW |
3 |
87,901,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7942:Bcan
|
UTSW |
3 |
87,900,382 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8428:Bcan
|
UTSW |
3 |
87,904,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8487:Bcan
|
UTSW |
3 |
87,896,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8801:Bcan
|
UTSW |
3 |
87,904,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Bcan
|
UTSW |
3 |
87,903,999 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8898:Bcan
|
UTSW |
3 |
87,895,695 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8993:Bcan
|
UTSW |
3 |
87,901,529 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9372:Bcan
|
UTSW |
3 |
87,895,610 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9503:Bcan
|
UTSW |
3 |
87,900,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9504:Bcan
|
UTSW |
3 |
87,900,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9505:Bcan
|
UTSW |
3 |
87,900,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9519:Bcan
|
UTSW |
3 |
87,902,968 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9519:Bcan
|
UTSW |
3 |
87,902,967 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9519:Bcan
|
UTSW |
3 |
87,902,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0013:Bcan
|
UTSW |
3 |
87,903,466 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1176:Bcan
|
UTSW |
3 |
87,902,957 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Bcan
|
UTSW |
3 |
87,898,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Bcan
|
UTSW |
3 |
87,898,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGTCTGCTCAGAGGCTTG -3'
(R):5'- AGAAAATTGGTCTGCAGCTCTG -3'
Sequencing Primer
(F):5'- AGAGGCTTGCCTCTGGGAC -3'
(R):5'- AGCTCTGCCTGGGCCTTAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation