Incidental Mutation 'IGL01954:Bcr'
| ID |
181393 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bcr
|
| Ensembl Gene |
ENSMUSG00000009681 |
| Gene Name |
BCR activator of RhoGEF and GTPase |
| Synonyms |
breakpoint cluster region, 5133400C09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
IGL01954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 75011173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151277
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
[ENSMUST00000218057]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000164107
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Bcr-Abl_Oligo
|
3 |
75 |
1.2e-44 |
PFAM |
|
low complexity region
|
86 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
389 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
470 |
N/A |
INTRINSIC |
|
RhoGEF
|
501 |
689 |
6.22e-51 |
SMART |
|
PH
|
708 |
867 |
7.95e-8 |
SMART |
|
C2
|
911 |
1016 |
2.85e-11 |
SMART |
|
RhoGAP
|
1064 |
1248 |
6.42e-70 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218465
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218591
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219807
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A reciprocal translocation between chromosomes 22 and 9 produces the Philadelphia chromosome, which is often found in patients with chronic myelogenous leukemia. The chromosome 22 breakpoint for this translocation is located within the BCR gene. The translocation produces a fusion protein which is encoded by sequence from both BCR and ABL, the gene at the chromosome 9 breakpoint. Although the BCR-ABL fusion protein has been extensively studied, the function of the normal BCR gene product is not clear. The protein has serine/threonine kinase activity and is a GTPase-activating protein for p21rac. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are defective in hormonal and behavioral stress response regulation and prone to septic shock, whereas chimeric mice carrying a BCR-ABL fusion mutation mimicking human Philadelphia chromosome develop chronic myeloid leukemia. [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 |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,741 (GRCm39) |
D330E |
probably damaging |
Het |
| Acsm3 |
T |
C |
7: 119,374,306 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,535,966 (GRCm39) |
Y156F |
possibly damaging |
Het |
| Cpn2 |
C |
T |
16: 30,079,138 (GRCm39) |
A188T |
probably benign |
Het |
| Ctdsp1 |
T |
C |
1: 74,433,242 (GRCm39) |
|
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,500,637 (GRCm39) |
R303S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,971,388 (GRCm39) |
D59G |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,944,460 (GRCm39) |
W91R |
probably damaging |
Het |
| Gpr149 |
T |
C |
3: 62,438,348 (GRCm39) |
N603S |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,187,123 (GRCm39) |
I1099T |
probably benign |
Het |
| Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
| Ighv1-80 |
A |
T |
12: 115,876,253 (GRCm39) |
V21D |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,257,934 (GRCm39) |
Y432C |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,963,295 (GRCm39) |
D1289G |
probably benign |
Het |
| Mab21l4 |
T |
A |
1: 93,079,794 (GRCm39) |
D432V |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,165,507 (GRCm39) |
T466A |
probably damaging |
Het |
| Megf8 |
A |
G |
7: 25,048,439 (GRCm39) |
E1704G |
possibly damaging |
Het |
| Mettl25 |
C |
T |
10: 105,659,068 (GRCm39) |
C405Y |
probably damaging |
Het |
| Muc6 |
A |
C |
7: 141,218,497 (GRCm39) |
S2059A |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,253,001 (GRCm39) |
I590N |
probably damaging |
Het |
| Npnt |
G |
T |
3: 132,615,724 (GRCm39) |
N137K |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,645,300 (GRCm39) |
R309* |
probably null |
Het |
| Ogfod3 |
G |
A |
11: 121,093,851 (GRCm39) |
T53I |
probably benign |
Het |
| Or11i1 |
A |
G |
3: 106,729,311 (GRCm39) |
I188T |
possibly damaging |
Het |
| Or5v1 |
C |
A |
17: 37,809,540 (GRCm39) |
|
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,794 (GRCm39) |
V263F |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,734,355 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
A |
G |
12: 55,339,353 (GRCm39) |
L170P |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,210,235 (GRCm39) |
D558E |
possibly damaging |
Het |
| Rasal2 |
A |
G |
1: 157,005,269 (GRCm39) |
S227P |
possibly damaging |
Het |
| Rasal2 |
A |
T |
1: 157,003,686 (GRCm39) |
D324E |
probably damaging |
Het |
| Rcbtb1 |
A |
G |
14: 59,467,416 (GRCm39) |
Y418C |
probably damaging |
Het |
| Rhag |
T |
C |
17: 41,139,341 (GRCm39) |
F92S |
possibly damaging |
Het |
| Scel |
T |
C |
14: 103,840,678 (GRCm39) |
|
probably benign |
Het |
| Serinc5 |
A |
G |
13: 92,819,441 (GRCm39) |
N125S |
probably damaging |
Het |
| Sgpl1 |
A |
T |
10: 60,936,672 (GRCm39) |
M561K |
probably benign |
Het |
| Sostdc1 |
T |
C |
12: 36,367,121 (GRCm39) |
V99A |
probably damaging |
Het |
| Them6 |
A |
G |
15: 74,593,538 (GRCm39) |
Y132C |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,207 (GRCm39) |
F641Y |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,876,580 (GRCm39) |
Y3384C |
probably damaging |
Het |
| Zbtb32 |
G |
T |
7: 30,289,353 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Bcr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Bcr
|
APN |
10 |
74,992,903 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00662:Bcr
|
APN |
10 |
75,003,932 (GRCm39) |
splice site |
probably benign |
|
|
IGL01359:Bcr
|
APN |
10 |
74,995,611 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01737:Bcr
|
APN |
10 |
74,990,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01908:Bcr
|
APN |
10 |
74,897,705 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02169:Bcr
|
APN |
10 |
74,995,714 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02379:Bcr
|
APN |
10 |
74,992,980 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02380:Bcr
|
APN |
10 |
75,011,131 (GRCm39) |
missense |
probably benign |
|
|
IGL02385:Bcr
|
APN |
10 |
74,981,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02657:Bcr
|
APN |
10 |
74,990,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02682:Bcr
|
APN |
10 |
75,001,878 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02959:Bcr
|
APN |
10 |
74,996,222 (GRCm39) |
missense |
probably benign |
0.44 |
|
accrual
|
UTSW |
10 |
74,897,338 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Appreciation
|
UTSW |
10 |
74,896,957 (GRCm39) |
nonsense |
probably null |
|
|
R0329:Bcr
|
UTSW |
10 |
75,017,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0330:Bcr
|
UTSW |
10 |
75,017,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0376:Bcr
|
UTSW |
10 |
74,981,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Bcr
|
UTSW |
10 |
74,967,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Bcr
|
UTSW |
10 |
74,993,039 (GRCm39) |
unclassified |
probably benign |
|
|
R0892:Bcr
|
UTSW |
10 |
74,960,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1143:Bcr
|
UTSW |
10 |
74,897,197 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Bcr
|
UTSW |
10 |
74,897,338 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1479:Bcr
|
UTSW |
10 |
74,896,957 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Bcr
|
UTSW |
10 |
74,961,034 (GRCm39) |
splice site |
probably null |
|
|
R1636:Bcr
|
UTSW |
10 |
74,966,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Bcr
|
UTSW |
10 |
75,003,932 (GRCm39) |
splice site |
probably benign |
|
|
R2341:Bcr
|
UTSW |
10 |
74,966,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2343:Bcr
|
UTSW |
10 |
74,981,254 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3753:Bcr
|
UTSW |
10 |
74,971,772 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4273:Bcr
|
UTSW |
10 |
74,960,943 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4624:Bcr
|
UTSW |
10 |
74,989,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4723:Bcr
|
UTSW |
10 |
75,011,161 (GRCm39) |
missense |
probably benign |
0.45 |
|
R5013:Bcr
|
UTSW |
10 |
74,960,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5359:Bcr
|
UTSW |
10 |
75,001,917 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5458:Bcr
|
UTSW |
10 |
74,990,792 (GRCm39) |
missense |
probably benign |
|
|
R5982:Bcr
|
UTSW |
10 |
75,012,248 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5988:Bcr
|
UTSW |
10 |
75,011,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6220:Bcr
|
UTSW |
10 |
74,898,124 (GRCm39) |
missense |
probably benign |
|
|
R6827:Bcr
|
UTSW |
10 |
74,966,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Bcr
|
UTSW |
10 |
74,989,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Bcr
|
UTSW |
10 |
74,966,868 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7003:Bcr
|
UTSW |
10 |
74,897,393 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7424:Bcr
|
UTSW |
10 |
74,992,932 (GRCm39) |
missense |
probably benign |
|
|
R7443:Bcr
|
UTSW |
10 |
74,978,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7488:Bcr
|
UTSW |
10 |
74,996,162 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8232:Bcr
|
UTSW |
10 |
75,001,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Bcr
|
UTSW |
10 |
74,981,271 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8992:Bcr
|
UTSW |
10 |
74,967,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9362:Bcr
|
UTSW |
10 |
74,993,023 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9487:Bcr
|
UTSW |
10 |
74,967,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9610:Bcr
|
UTSW |
10 |
74,990,745 (GRCm39) |
nonsense |
probably null |
|
|
R9610:Bcr
|
UTSW |
10 |
74,990,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9611:Bcr
|
UTSW |
10 |
74,990,745 (GRCm39) |
nonsense |
probably null |
|
|
R9611:Bcr
|
UTSW |
10 |
74,990,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Bcr
|
UTSW |
10 |
74,966,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9662:Bcr
|
UTSW |
10 |
75,011,152 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation