Incidental Mutation 'IGL00090:Bcr'
| ID |
1237 |
| 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 # |
IGL00090
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to C
at 74992903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000218591
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,854,345 (GRCm39) |
T857A |
probably benign |
Het |
| Abcc9 |
A |
T |
6: 142,578,916 (GRCm39) |
|
probably benign |
Het |
| Adam11 |
A |
G |
11: 102,667,657 (GRCm39) |
T709A |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,757,055 (GRCm39) |
I771V |
probably benign |
Het |
| Adgrv1 |
T |
G |
13: 81,553,527 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,726,220 (GRCm39) |
D602N |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,597 (GRCm39) |
D164E |
possibly damaging |
Het |
| Ago3 |
A |
G |
4: 126,265,334 (GRCm39) |
L319P |
probably damaging |
Het |
| Aim2 |
A |
G |
1: 173,283,031 (GRCm39) |
S38G |
probably benign |
Het |
| Apoh |
A |
G |
11: 108,286,660 (GRCm39) |
D28G |
probably benign |
Het |
| Atm |
C |
T |
9: 53,435,743 (GRCm39) |
R189K |
probably damaging |
Het |
| Bbs1 |
T |
C |
19: 4,943,038 (GRCm39) |
T451A |
probably benign |
Het |
| BC034090 |
T |
C |
1: 155,101,193 (GRCm39) |
D719G |
possibly damaging |
Het |
| Bmp2 |
A |
T |
2: 133,402,947 (GRCm39) |
Q166L |
probably benign |
Het |
| Bms1 |
A |
T |
6: 118,381,544 (GRCm39) |
S665T |
probably benign |
Het |
| Ccser1 |
A |
T |
6: 62,357,126 (GRCm39) |
T855S |
possibly damaging |
Het |
| Cfap36 |
C |
T |
11: 29,172,875 (GRCm39) |
V217M |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,542,393 (GRCm39) |
N470D |
probably damaging |
Het |
| Cort |
A |
G |
4: 149,209,752 (GRCm39) |
F100S |
probably damaging |
Het |
| Cyp4f14 |
G |
T |
17: 33,133,540 (GRCm39) |
D105E |
probably benign |
Het |
| Dnah1 |
A |
G |
14: 31,009,830 (GRCm39) |
S1913P |
probably benign |
Het |
| Fam91a1 |
A |
T |
15: 58,302,584 (GRCm39) |
H308L |
probably damaging |
Het |
| Fbn1 |
A |
C |
2: 125,166,867 (GRCm39) |
I2016M |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,723,886 (GRCm39) |
Q251L |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,109,416 (GRCm39) |
Y481* |
probably null |
Het |
| Ly9 |
A |
T |
1: 171,421,019 (GRCm39) |
I624N |
probably damaging |
Het |
| Mapt |
C |
T |
11: 104,213,311 (GRCm39) |
S301L |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,042,603 (GRCm39) |
V144I |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,068,779 (GRCm39) |
C660* |
probably null |
Het |
| Necab3 |
G |
T |
2: 154,389,488 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
A |
G |
8: 70,585,279 (GRCm39) |
Y93C |
probably damaging |
Het |
| Nxpe5 |
A |
G |
5: 138,247,096 (GRCm39) |
D356G |
probably benign |
Het |
| Or10ak9 |
T |
A |
4: 118,726,484 (GRCm39) |
Y168N |
probably damaging |
Het |
| Or2w25 |
A |
T |
11: 59,504,147 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Plce1 |
A |
G |
19: 38,734,232 (GRCm39) |
Q1544R |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,869 (GRCm39) |
T605S |
probably benign |
Het |
| Poglut1 |
C |
A |
16: 38,363,278 (GRCm39) |
W167L |
possibly damaging |
Het |
| Pou2f1 |
G |
T |
1: 165,729,867 (GRCm39) |
R162S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,080,417 (GRCm39) |
|
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Rexo2 |
A |
G |
9: 48,385,747 (GRCm39) |
S126P |
probably damaging |
Het |
| Robo4 |
A |
G |
9: 37,322,400 (GRCm39) |
S844G |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,513,671 (GRCm39) |
|
probably benign |
Het |
| Sdc1 |
A |
G |
12: 8,840,459 (GRCm39) |
T75A |
possibly damaging |
Het |
| Slc38a4 |
C |
T |
15: 96,917,690 (GRCm39) |
E12K |
probably benign |
Het |
| Spata31h1 |
T |
G |
10: 82,119,586 (GRCm39) |
M4475L |
probably benign |
Het |
| Tbck |
T |
C |
3: 132,448,854 (GRCm39) |
|
probably null |
Het |
| Tex2 |
A |
T |
11: 106,459,361 (GRCm39) |
V23E |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,026,413 (GRCm39) |
V552A |
probably benign |
Het |
| Zfyve26 |
T |
C |
12: 79,296,234 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Bcr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01954:Bcr
|
APN |
10 |
75,011,173 (GRCm39) |
splice site |
probably null |
|
|
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 |
2011-07-12 |
Incidental Mutation