Incidental Mutation 'R1416:Bcr'
| ID |
159598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bcr
|
| Ensembl Gene |
ENSMUSG00000009681 |
| Gene Name |
BCR activator of RhoGEF and GTPase |
| Synonyms |
breakpoint cluster region, 5133400C09Rik |
| MMRRC Submission |
039472-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.952)
|
| Stock # |
R1416 (G1)
|
| Quality Score |
118 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
74896424-75020753 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 74897338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 161
(I161F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164107]
|
| AlphaFold |
Q6PAJ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164107
AA Change: I161F
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000126377
Gene: ENSMUSG00000009681
AA Change: I161F
| 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 |
|
| Meta Mutation Damage Score |
0.0603 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| Validation Efficiency |
94% (63/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
T |
C |
9: 103,950,822 (GRCm39) |
S49P |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,674,238 (GRCm39) |
I250T |
possibly damaging |
Het |
| Alox5 |
G |
A |
6: 116,400,106 (GRCm39) |
Q278* |
probably null |
Het |
| Anxa7 |
G |
A |
14: 20,512,775 (GRCm39) |
R253C |
probably damaging |
Het |
| Arfgef1 |
T |
A |
1: 10,243,164 (GRCm39) |
T1059S |
probably damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,197 (GRCm39) |
E101G |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,845,140 (GRCm39) |
E1309G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cep41 |
C |
T |
6: 30,657,356 (GRCm39) |
S233N |
probably damaging |
Het |
| Col5a1 |
T |
G |
2: 27,812,076 (GRCm39) |
S53A |
unknown |
Het |
| Cplane1 |
C |
T |
15: 8,276,422 (GRCm39) |
Q2689* |
probably null |
Het |
| Efnb2 |
A |
G |
8: 8,672,329 (GRCm39) |
|
probably null |
Het |
| Epb41l5 |
T |
C |
1: 119,477,606 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
A |
G |
7: 119,390,397 (GRCm39) |
F77S |
probably damaging |
Het |
| Ern1 |
C |
T |
11: 106,312,806 (GRCm39) |
|
probably benign |
Het |
| Eya3 |
T |
C |
4: 132,434,440 (GRCm39) |
|
probably benign |
Het |
| Icos |
T |
C |
1: 61,033,802 (GRCm39) |
L144P |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,591 (GRCm39) |
V717A |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,742,019 (GRCm39) |
E232G |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,228 (GRCm39) |
I2344T |
probably damaging |
Het |
| Mettl5 |
A |
T |
2: 69,701,633 (GRCm39) |
F207I |
possibly damaging |
Het |
| Mtor |
G |
T |
4: 148,575,871 (GRCm39) |
E1342* |
probably null |
Het |
| Nrap |
A |
G |
19: 56,315,725 (GRCm39) |
Y1360H |
possibly damaging |
Het |
| Nsun7 |
T |
C |
5: 66,418,423 (GRCm39) |
V51A |
probably damaging |
Het |
| Or5an11 |
C |
A |
19: 12,246,258 (GRCm39) |
F221L |
probably benign |
Het |
| Or5p5 |
T |
C |
7: 107,414,469 (GRCm39) |
L228P |
probably damaging |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Or8k27 |
T |
C |
2: 86,275,664 (GRCm39) |
I221V |
probably benign |
Het |
| Or9m1b |
T |
A |
2: 87,836,915 (GRCm39) |
Y60F |
probably damaging |
Het |
| Otud6b |
A |
C |
4: 14,818,473 (GRCm39) |
L143V |
probably damaging |
Het |
| Pabir2 |
T |
C |
X: 52,335,023 (GRCm39) |
*256W |
probably null |
Het |
| Pp2d1 |
T |
C |
17: 53,822,835 (GRCm39) |
N77S |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,797,283 (GRCm39) |
M372L |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Raly |
G |
T |
2: 154,699,273 (GRCm39) |
G26* |
probably null |
Het |
| Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
| Rusc2 |
A |
G |
4: 43,421,617 (GRCm39) |
E679G |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,213,841 (GRCm39) |
V1268A |
probably damaging |
Het |
| Setd1b |
C |
T |
5: 123,298,748 (GRCm39) |
|
probably benign |
Het |
| Shisa3 |
C |
G |
5: 67,768,777 (GRCm39) |
P226A |
probably benign |
Het |
| Smox |
C |
T |
2: 131,364,051 (GRCm39) |
S481F |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,531,453 (GRCm39) |
V2570A |
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Sult4a1 |
C |
T |
15: 83,970,847 (GRCm39) |
R186Q |
probably benign |
Het |
| Taf2 |
G |
T |
15: 54,901,806 (GRCm39) |
A796E |
possibly damaging |
Het |
| Taf4b |
T |
C |
18: 14,954,484 (GRCm39) |
|
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,898,041 (GRCm39) |
Q593K |
probably benign |
Het |
| Tigd3 |
T |
C |
19: 5,941,753 (GRCm39) |
D459G |
probably benign |
Het |
| Tmem168 |
A |
T |
6: 13,591,400 (GRCm39) |
L472Q |
probably damaging |
Het |
| Tmem169 |
G |
T |
1: 72,339,875 (GRCm39) |
V102F |
probably damaging |
Het |
| Tmem241 |
T |
C |
18: 12,126,631 (GRCm39) |
T274A |
probably benign |
Het |
| Trip10 |
A |
G |
17: 57,557,800 (GRCm39) |
Y28C |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,799,239 (GRCm39) |
V398A |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,775,415 (GRCm39) |
Y567C |
probably damaging |
Het |
| Uckl1 |
A |
T |
2: 181,211,362 (GRCm39) |
M489K |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,169,080 (GRCm39) |
P1074S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,904 (GRCm39) |
V195A |
probably damaging |
Het |
| Vmn2r63 |
T |
A |
7: 42,577,339 (GRCm39) |
I400L |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,800,824 (GRCm39) |
I371F |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,568 (GRCm39) |
T940A |
probably benign |
Het |
| Zfp105 |
A |
T |
9: 122,759,742 (GRCm39) |
Y471F |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,166 (GRCm39) |
H580Q |
probably 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGCTTCCGCATGATCTACCTG -3'
(R):5'- CGTCAAGGCCGCAACTGCTTTC -3'
Sequencing Primer
(F):5'- GCCAAGGAGAAGAAGAGCTAC -3'
(R):5'- CGCAACTGCTTTCCGAGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation