Incidental Mutation 'R9714:Cd19'
ID |
730351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd19
|
Ensembl Gene |
ENSMUSG00000030724 |
Gene Name |
CD19 antigen |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.834)
|
Stock # |
R9714 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
126007622-126014061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126010230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 381
(I381V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145803
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032968]
[ENSMUST00000206325]
|
AlphaFold |
P25918 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032968
AA Change: I380V
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000032968 Gene: ENSMUSG00000030724 AA Change: I380V
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 |
probably benign
Transcript: ENSMUST00000206325
AA Change: I381V
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
C |
7: 120,030,383 (GRCm39) |
D165A |
probably benign |
Het |
Abca3 |
T |
A |
17: 24,595,702 (GRCm39) |
C352S |
probably benign |
Het |
AC157566.4 |
T |
C |
15: 76,418,354 (GRCm39) |
T52A |
probably benign |
Het |
Col17a1 |
C |
T |
19: 47,636,634 (GRCm39) |
V1374I |
unknown |
Het |
Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
Dok1 |
A |
G |
6: 83,008,275 (GRCm39) |
V469A |
probably benign |
Het |
Glg1 |
A |
G |
8: 111,924,301 (GRCm39) |
L229S |
probably damaging |
Het |
Hsd3b6 |
A |
G |
3: 98,713,645 (GRCm39) |
F218S |
probably benign |
Het |
Kif1c |
T |
C |
11: 70,615,660 (GRCm39) |
V588A |
probably benign |
Het |
Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
Med13l |
T |
A |
5: 118,866,438 (GRCm39) |
D497E |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,935,410 (GRCm39) |
F869L |
possibly damaging |
Het |
Myo19 |
A |
G |
11: 84,773,542 (GRCm39) |
M1V |
probably null |
Het |
Notum |
T |
C |
11: 120,551,019 (GRCm39) |
E49G |
probably benign |
Het |
Nup153 |
G |
A |
13: 46,866,435 (GRCm39) |
T203I |
possibly damaging |
Het |
Parvb |
G |
T |
15: 84,167,041 (GRCm39) |
G119C |
probably damaging |
Het |
Pcdh10 |
G |
A |
3: 45,336,010 (GRCm39) |
A775T |
probably damaging |
Het |
Pla2g4f |
C |
T |
2: 120,142,900 (GRCm39) |
R70Q |
probably benign |
Het |
Plxna1 |
A |
T |
6: 89,296,440 (GRCm39) |
L1868Q |
probably damaging |
Het |
Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
Ptprc |
T |
A |
1: 138,008,687 (GRCm39) |
T667S |
probably damaging |
Het |
Rsad1 |
A |
G |
11: 94,435,298 (GRCm39) |
V263A |
probably benign |
Het |
Sardh |
C |
T |
2: 27,079,641 (GRCm39) |
V884M |
possibly damaging |
Het |
Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,781 (GRCm39) |
|
probably benign |
Het |
Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
Taf11 |
T |
C |
17: 28,122,136 (GRCm39) |
E116G |
probably damaging |
Het |
Tbc1d10a |
G |
T |
11: 4,163,683 (GRCm39) |
A312S |
probably damaging |
Het |
Tiam1 |
T |
A |
16: 89,694,647 (GRCm39) |
H270L |
probably benign |
Het |
Vmn2r31 |
T |
A |
7: 7,387,367 (GRCm39) |
I735F |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTCTGGCTCTTCATAGGC -3'
(R):5'- CTTGTCCTAGAACTTGAGGCC -3'
Sequencing Primer
(F):5'- GGCTCTTCATAGGCCTCCC -3'
(R):5'- AGGCCAAGGCTCAGATTTTGATC -3'
|
Posted On |
2022-10-06 |