Incidental Mutation 'R1147:Cd19'
| ID |
102491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd19
|
| Ensembl Gene |
ENSMUSG00000030724 |
| Gene Name |
CD19 antigen |
| Synonyms |
|
| MMRRC Submission |
039220-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.822)
|
| Stock # |
R1147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126007622-126014061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 126010217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 384
(D384V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032968]
[ENSMUST00000206325]
|
| AlphaFold |
P25918 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032968
AA Change: D384V
PolyPhen 2
Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: D384V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
23 |
116 |
9.12e-7 |
SMART |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
IG
|
182 |
273 |
2.41e-6 |
SMART |
|
transmembrane domain
|
288 |
310 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205848
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205997
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206325
AA Change: D385V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206871
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 97.7%
- 10x: 89.5%
- 20x: 66.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal B lymphocyte development, activation and differentiation, altered mast cell activation in a model for acute septic peritonitis, inhibition of bleomycin-induced fibrosis and autoantibody production, and increased susceptibility to EAE. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted(4)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,248,655 (GRCm39) |
I255T |
possibly damaging |
Het |
| Aknad1 |
T |
A |
3: 108,659,857 (GRCm39) |
N290K |
possibly damaging |
Het |
| Ano8 |
C |
A |
8: 71,934,661 (GRCm39) |
V447F |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
A |
T |
3: 88,892,194 (GRCm39) |
M1358L |
possibly damaging |
Het |
| Ccdc110 |
A |
G |
8: 46,397,121 (GRCm39) |
K837E |
possibly damaging |
Het |
| Ces1f |
C |
T |
8: 93,984,909 (GRCm39) |
V473I |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,832,191 (GRCm39) |
E994K |
probably damaging |
Het |
| Col5a2 |
G |
T |
1: 45,415,931 (GRCm39) |
N1405K |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,379,426 (GRCm39) |
D3720G |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,789,939 (GRCm39) |
T199A |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Flacc1 |
A |
T |
1: 58,708,622 (GRCm39) |
Y215N |
probably damaging |
Het |
| Hrg |
G |
T |
16: 22,779,754 (GRCm39) |
C344F |
probably damaging |
Het |
| Htt |
T |
C |
5: 35,008,596 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Kcnh2 |
T |
A |
5: 24,529,385 (GRCm39) |
I784F |
probably damaging |
Het |
| Kifc3 |
T |
C |
8: 95,864,546 (GRCm39) |
T55A |
probably damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Oog3 |
A |
G |
4: 143,884,982 (GRCm39) |
F318S |
possibly damaging |
Het |
| Or2a20 |
A |
T |
6: 43,194,146 (GRCm39) |
T100S |
probably damaging |
Het |
| Or52w1 |
G |
A |
7: 105,018,484 (GRCm39) |
R308Q |
probably benign |
Het |
| Pde5a |
C |
T |
3: 122,587,962 (GRCm39) |
T376M |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,400,837 (GRCm39) |
I2204V |
probably null |
Het |
| Ppp1r13l |
A |
G |
7: 19,109,772 (GRCm39) |
D731G |
probably damaging |
Het |
| Ptk6 |
C |
T |
2: 180,837,590 (GRCm39) |
G443D |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,730,504 (GRCm39) |
D749G |
probably damaging |
Het |
| Ralgapa1 |
A |
T |
12: 55,749,265 (GRCm39) |
D1212E |
probably damaging |
Het |
| Rsad1 |
T |
C |
11: 94,434,966 (GRCm39) |
Y290C |
probably damaging |
Het |
| Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
| Slc6a11 |
T |
A |
6: 114,221,831 (GRCm39) |
I507N |
possibly damaging |
Het |
| Sp140l1 |
C |
G |
1: 85,077,226 (GRCm39) |
K113N |
probably benign |
Het |
| Sybu |
A |
T |
15: 44,609,651 (GRCm39) |
F78I |
probably damaging |
Het |
| Tox |
A |
T |
4: 6,823,055 (GRCm39) |
N87K |
possibly damaging |
Het |
| Trrap |
G |
A |
5: 144,741,576 (GRCm39) |
G1308R |
probably damaging |
Het |
| Trub2 |
A |
G |
2: 29,677,644 (GRCm39) |
|
probably benign |
Het |
| Vmn2r114 |
A |
T |
17: 23,530,037 (GRCm39) |
H123Q |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,072 (GRCm39) |
Y262F |
probably damaging |
Het |
| Vmn2r33 |
C |
T |
7: 7,557,144 (GRCm39) |
E519K |
probably benign |
Het |
| Zfp106 |
A |
T |
2: 120,351,017 (GRCm39) |
C1545S |
probably damaging |
Het |
|
| Other mutations in Cd19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01896:Cd19
|
APN |
7 |
126,013,522 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02243:Cd19
|
APN |
7 |
126,009,965 (GRCm39) |
splice site |
probably null |
|
|
IGL02465:Cd19
|
APN |
7 |
126,012,730 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02824:Cd19
|
APN |
7 |
126,009,826 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03164:Cd19
|
APN |
7 |
126,012,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
buzzing
|
UTSW |
7 |
126,010,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Hexagonal
|
UTSW |
7 |
126,013,478 (GRCm39) |
nonsense |
probably null |
|
|
Hive
|
UTSW |
7 |
126,011,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Cd19
|
UTSW |
7 |
126,010,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Cd19
|
UTSW |
7 |
126,010,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Cd19
|
UTSW |
7 |
126,010,217 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1860:Cd19
|
UTSW |
7 |
126,008,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2309:Cd19
|
UTSW |
7 |
126,013,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4422:Cd19
|
UTSW |
7 |
126,012,578 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4532:Cd19
|
UTSW |
7 |
126,011,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4649:Cd19
|
UTSW |
7 |
126,013,664 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5400:Cd19
|
UTSW |
7 |
126,013,624 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6846:Cd19
|
UTSW |
7 |
126,010,025 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7027:Cd19
|
UTSW |
7 |
126,009,671 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7226:Cd19
|
UTSW |
7 |
126,013,995 (GRCm39) |
missense |
unknown |
|
|
R7464:Cd19
|
UTSW |
7 |
126,010,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7612:Cd19
|
UTSW |
7 |
126,013,496 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7797:Cd19
|
UTSW |
7 |
126,012,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Cd19
|
UTSW |
7 |
126,009,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7885:Cd19
|
UTSW |
7 |
126,011,303 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8151:Cd19
|
UTSW |
7 |
126,013,478 (GRCm39) |
nonsense |
probably null |
|
|
R8317:Cd19
|
UTSW |
7 |
126,012,615 (GRCm39) |
nonsense |
probably null |
|
|
R8438:Cd19
|
UTSW |
7 |
126,013,515 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8943:Cd19
|
UTSW |
7 |
126,011,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9591:Cd19
|
UTSW |
7 |
126,011,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9605:Cd19
|
UTSW |
7 |
126,010,057 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9623:Cd19
|
UTSW |
7 |
126,011,284 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9714:Cd19
|
UTSW |
7 |
126,010,230 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation