Incidental Mutation 'IGL02385:Bcr'
| ID |
291491 |
| 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: 0.945)
|
| Stock # |
IGL02385
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74981235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 685
(S685P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164107
AA Change: S685P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: S685P
| 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 |
|
| 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 |
|---|
| 2700049A03Rik |
T |
A |
12: 71,201,630 (GRCm39) |
D351E |
probably damaging |
Het |
| Adad2 |
A |
G |
8: 120,341,773 (GRCm39) |
|
probably benign |
Het |
| Adamts8 |
A |
G |
9: 30,873,026 (GRCm39) |
N744D |
probably benign |
Het |
| Atad5 |
C |
T |
11: 79,985,453 (GRCm39) |
T180I |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,116,594 (GRCm39) |
I700K |
probably benign |
Het |
| Cd36 |
A |
G |
5: 18,019,717 (GRCm39) |
V128A |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,510,920 (GRCm38) |
V498A |
possibly damaging |
Het |
| Chd2 |
T |
C |
7: 73,085,570 (GRCm39) |
Y1688C |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 15,953,275 (GRCm39) |
V3402A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,660,771 (GRCm39) |
V370A |
probably damaging |
Het |
| Dus4l |
A |
G |
12: 31,690,674 (GRCm39) |
|
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,735,168 (GRCm39) |
S320P |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,887,348 (GRCm39) |
D616G |
probably benign |
Het |
| Fxr2 |
C |
T |
11: 69,543,095 (GRCm39) |
R631C |
possibly damaging |
Het |
| Gltpd2 |
T |
A |
11: 70,410,822 (GRCm39) |
F152I |
probably damaging |
Het |
| Gpt2 |
T |
A |
8: 86,242,782 (GRCm39) |
|
probably null |
Het |
| Hsd3b6 |
A |
T |
3: 98,713,888 (GRCm39) |
I137K |
possibly damaging |
Het |
| Kcna6 |
A |
G |
6: 126,715,917 (GRCm39) |
V324A |
probably benign |
Het |
| Kcnu1 |
C |
T |
8: 26,422,298 (GRCm39) |
L188F |
probably damaging |
Het |
| Kdm1b |
A |
G |
13: 47,221,982 (GRCm39) |
I474V |
possibly damaging |
Het |
| Kifap3 |
C |
T |
1: 163,693,013 (GRCm39) |
Q602* |
probably null |
Het |
| Lrp4 |
T |
A |
2: 91,305,065 (GRCm39) |
C231S |
possibly damaging |
Het |
| Lrrc63 |
T |
C |
14: 75,323,640 (GRCm39) |
D528G |
probably benign |
Het |
| Nosip |
C |
A |
7: 44,726,156 (GRCm39) |
R240S |
possibly damaging |
Het |
| Or11g26 |
T |
C |
14: 50,752,900 (GRCm39) |
S80P |
probably damaging |
Het |
| Or4f57 |
G |
A |
2: 111,790,603 (GRCm39) |
P272S |
probably benign |
Het |
| Or4k41 |
A |
G |
2: 111,279,695 (GRCm39) |
D70G |
probably damaging |
Het |
| Orc5 |
A |
T |
5: 22,731,438 (GRCm39) |
D231E |
probably damaging |
Het |
| Poli |
A |
T |
18: 70,659,645 (GRCm39) |
M62K |
possibly damaging |
Het |
| Ppp1r13b |
A |
C |
12: 111,801,477 (GRCm39) |
S402R |
probably damaging |
Het |
| Prl3b1 |
T |
C |
13: 27,433,366 (GRCm39) |
S174P |
possibly damaging |
Het |
| Ptpra |
T |
C |
2: 130,382,393 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
T |
A |
4: 126,919,929 (GRCm39) |
|
probably null |
Het |
| Sh3bp1 |
T |
A |
15: 78,790,088 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
T |
G |
8: 41,352,048 (GRCm39) |
V37G |
probably damaging |
Het |
| Smc1a |
A |
T |
X: 150,820,655 (GRCm39) |
E794D |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,149,274 (GRCm39) |
R366G |
possibly damaging |
Het |
| Spaca7 |
A |
G |
8: 12,636,498 (GRCm39) |
N108S |
possibly damaging |
Het |
| Spon1 |
T |
G |
7: 113,365,567 (GRCm39) |
M1R |
probably null |
Het |
| Sult6b2 |
T |
C |
6: 142,747,498 (GRCm39) |
R84G |
probably benign |
Het |
| Syt2 |
A |
G |
1: 134,673,553 (GRCm39) |
N299S |
probably benign |
Het |
| Syvn1 |
T |
C |
19: 6,098,570 (GRCm39) |
V104A |
probably damaging |
Het |
| Tbpl1 |
A |
G |
10: 22,583,568 (GRCm39) |
L134P |
probably damaging |
Het |
| Tex11 |
A |
T |
X: 99,920,135 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf21 |
A |
G |
17: 43,350,942 (GRCm39) |
S369G |
probably damaging |
Het |
| Tram1l1 |
T |
C |
3: 124,115,707 (GRCm39) |
V289A |
probably benign |
Het |
| Ttyh3 |
A |
T |
5: 140,619,060 (GRCm39) |
F277L |
probably benign |
Het |
| Vmn2r17 |
T |
G |
5: 109,582,247 (GRCm39) |
N545K |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,759,657 (GRCm39) |
H181L |
probably benign |
Het |
| Zscan20 |
A |
G |
4: 128,498,392 (GRCm39) |
M2T |
possibly damaging |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation