Incidental Mutation 'IGL02682:Bcr'
| ID |
303418 |
| 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 # |
IGL02682
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75001878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 927
(N927K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164107
AA Change: N927K
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: N927K
| 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 |
unknown
Transcript: ENSMUST00000218591
AA Change: N15K
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1 |
A |
G |
2: 58,367,823 (GRCm39) |
S113P |
probably benign |
Het |
| Arhgdib |
A |
T |
6: 136,901,166 (GRCm39) |
W188R |
probably damaging |
Het |
| Cd209c |
A |
G |
8: 3,990,324 (GRCm39) |
Y165H |
probably damaging |
Het |
| Cnnm2 |
A |
G |
19: 46,750,515 (GRCm39) |
K102E |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,623 (GRCm39) |
E600G |
probably damaging |
Het |
| Ddx4 |
A |
T |
13: 112,758,720 (GRCm39) |
H280Q |
probably benign |
Het |
| Eya4 |
T |
C |
10: 22,992,498 (GRCm39) |
Y462C |
probably damaging |
Het |
| Fibcd1 |
T |
A |
2: 31,728,576 (GRCm39) |
I94F |
probably damaging |
Het |
| Gm4846 |
C |
A |
1: 166,322,195 (GRCm39) |
G124V |
probably damaging |
Het |
| Gm5624 |
A |
G |
14: 44,797,469 (GRCm39) |
I108T |
possibly damaging |
Het |
| Gpr179 |
A |
T |
11: 97,242,691 (GRCm39) |
M51K |
probably benign |
Het |
| Hck |
A |
G |
2: 152,976,054 (GRCm39) |
I198V |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,924 (GRCm39) |
C209* |
probably null |
Het |
| Klhl1 |
T |
A |
14: 96,438,778 (GRCm39) |
I507F |
possibly damaging |
Het |
| Knl1 |
A |
T |
2: 118,908,450 (GRCm39) |
K1693N |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,051,714 (GRCm39) |
V490A |
possibly damaging |
Het |
| Mrgprx1 |
A |
T |
7: 47,671,740 (GRCm39) |
D2E |
probably damaging |
Het |
| Mtg1 |
T |
C |
7: 139,724,642 (GRCm39) |
|
probably benign |
Het |
| Myof |
C |
A |
19: 37,909,929 (GRCm39) |
R1512L |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,810,996 (GRCm39) |
T679I |
probably benign |
Het |
| Nwd2 |
C |
A |
5: 63,962,020 (GRCm39) |
L535I |
probably benign |
Het |
| Nwd2 |
T |
A |
5: 63,962,021 (GRCm39) |
L535H |
probably damaging |
Het |
| Or4f14b |
T |
A |
2: 111,775,285 (GRCm39) |
N172I |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,221 (GRCm39) |
I138F |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,652,033 (GRCm39) |
S155P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,602,275 (GRCm39) |
*41W |
probably null |
Het |
| Prl5a1 |
T |
A |
13: 28,329,403 (GRCm39) |
N27K |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,358,708 (GRCm39) |
T1292A |
probably damaging |
Het |
| Rnf38 |
G |
A |
4: 44,133,745 (GRCm39) |
A376V |
probably damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,216,580 (GRCm39) |
V117A |
possibly damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,517 (GRCm39) |
F707L |
probably damaging |
Het |
| Snx16 |
G |
A |
3: 10,503,235 (GRCm39) |
P4L |
probably damaging |
Het |
| Snx6 |
T |
C |
12: 54,801,130 (GRCm39) |
D289G |
probably damaging |
Het |
| St8sia3 |
G |
T |
18: 64,402,750 (GRCm39) |
V130F |
probably damaging |
Het |
| U2surp |
A |
G |
9: 95,363,704 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,791,272 (GRCm39) |
F273L |
probably benign |
Het |
| Vmn2r101 |
A |
T |
17: 19,832,507 (GRCm39) |
R834S |
possibly damaging |
Het |
| Vmn2r18 |
G |
T |
5: 151,508,102 (GRCm39) |
H341N |
probably damaging |
Het |
| Vrk3 |
A |
G |
7: 44,403,244 (GRCm39) |
I2V |
probably benign |
Het |
| Zglp1 |
A |
G |
9: 20,977,534 (GRCm39) |
S94P |
probably benign |
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 |
|
|
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 |
|
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