Incidental Mutation 'R6846:Cd19'
ID |
534762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd19
|
Ensembl Gene |
ENSMUSG00000030724 |
Gene Name |
CD19 antigen |
Synonyms |
|
MMRRC Submission |
044952-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.834)
|
Stock # |
R6846 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
126007622-126014061 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126010025 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 408
(E408G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032968
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032968]
[ENSMUST00000206325]
|
AlphaFold |
P25918 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032968
AA Change: E408G
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000032968 Gene: ENSMUSG00000030724 AA Change: E408G
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: E409G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (42/42) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
Arhgap42 |
G |
T |
9: 9,006,446 (GRCm39) |
P650Q |
probably damaging |
Het |
Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
Fhit |
C |
A |
14: 9,763,762 (GRCm38) |
R172L |
possibly damaging |
Het |
Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
Lats2 |
A |
G |
14: 57,933,591 (GRCm39) |
V842A |
probably damaging |
Het |
Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
Slc16a13 |
T |
C |
11: 70,108,661 (GRCm39) |
T390A |
probably benign |
Het |
Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
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 |
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 |
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 |
PCR Primer
(F):5'- CACCACATTACCATTGGAGAAGG -3'
(R):5'- GCTCAGAGCCATGAAACAGG -3'
Sequencing Primer
(F):5'- GAAGGAGTCTTCTTCCTCTGGAC -3'
(R):5'- AACAGGTCAGATTTAAGGGTTGTTCC -3'
|
Posted On |
2018-09-12 |