Incidental Mutation 'R7612:Cd19'
| ID |
588668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd19
|
| Ensembl Gene |
ENSMUSG00000030724 |
| Gene Name |
CD19 antigen |
| Synonyms |
|
| MMRRC Submission |
045680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
R7612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126007622-126014061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 126013496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 98
(Q98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032968]
[ENSMUST00000206325]
|
| AlphaFold |
P25918 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032968
AA Change: Q98K
PolyPhen 2
Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: Q98K
| 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 |
possibly damaging
Transcript: ENSMUST00000206325
AA Change: Q98K
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057N15Rik |
A |
T |
16: 88,570,496 (GRCm39) |
Y181* |
probably null |
Het |
| Adgrf2 |
T |
G |
17: 43,025,271 (GRCm39) |
K71T |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,464,076 (GRCm39) |
M1280K |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,224,405 (GRCm39) |
S541P |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,493,341 (GRCm39) |
I788N |
possibly damaging |
Het |
| Cpne2 |
A |
T |
8: 95,284,048 (GRCm39) |
I290L |
probably benign |
Het |
| Cpsf1 |
C |
T |
15: 76,481,209 (GRCm39) |
V1216I |
probably benign |
Het |
| Csad |
G |
A |
15: 102,097,357 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
T |
A |
2: 104,560,853 (GRCm39) |
Q47L |
probably benign |
Het |
| Dnajc6 |
T |
A |
4: 101,455,123 (GRCm39) |
S105T |
probably benign |
Het |
| Dsg4 |
C |
A |
18: 20,604,047 (GRCm39) |
P838Q |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,999,647 (GRCm39) |
Y179N |
possibly damaging |
Het |
| Egfr |
A |
T |
11: 16,809,025 (GRCm39) |
N73I |
possibly damaging |
Het |
| Eya2 |
T |
C |
2: 165,529,657 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
A |
G |
3: 151,923,652 (GRCm39) |
Q123R |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,311,693 (GRCm39) |
I439T |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,079,506 (GRCm39) |
S261R |
possibly damaging |
Het |
| Gsdmd |
T |
G |
15: 75,736,803 (GRCm39) |
L140R |
probably damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,029,478 (GRCm39) |
V201A |
possibly damaging |
Het |
| Ildr2 |
T |
A |
1: 166,135,361 (GRCm39) |
M371K |
probably benign |
Het |
| Kalrn |
G |
A |
16: 34,134,582 (GRCm39) |
T412I |
possibly damaging |
Het |
| Kdm5b |
C |
T |
1: 134,552,656 (GRCm39) |
Q1211* |
probably null |
Het |
| Loxhd1 |
T |
C |
18: 77,517,671 (GRCm39) |
S1840P |
possibly damaging |
Het |
| Maml2 |
A |
G |
9: 13,617,781 (GRCm39) |
M376V |
probably benign |
Het |
| Mgat4e |
T |
C |
1: 134,469,745 (GRCm39) |
T100A |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 113,013,168 (GRCm39) |
T812S |
possibly damaging |
Het |
| Nanp |
T |
A |
2: 150,881,158 (GRCm39) |
E30V |
probably null |
Het |
| Or2w1b |
G |
T |
13: 21,300,217 (GRCm39) |
M118I |
probably damaging |
Het |
| Or4c107 |
T |
G |
2: 88,788,849 (GRCm39) |
L13R |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,123,990 (GRCm39) |
H158L |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,393 (GRCm39) |
N241I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,175,610 (GRCm39) |
N1924D |
probably benign |
Het |
| Pou1f1 |
A |
G |
16: 65,326,811 (GRCm39) |
N137S |
probably damaging |
Het |
| Ptgdr |
A |
G |
14: 45,096,094 (GRCm39) |
M206T |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,004,696 (GRCm39) |
T20A |
probably benign |
Het |
| Rexo1 |
G |
C |
10: 80,385,497 (GRCm39) |
S520R |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,727,005 (GRCm39) |
S94T |
probably benign |
Het |
| Slc35e3 |
A |
G |
10: 117,576,785 (GRCm39) |
V182A |
probably benign |
Het |
| Slfn2 |
A |
G |
11: 82,961,089 (GRCm39) |
E356G |
probably damaging |
Het |
| Spry4 |
C |
A |
18: 38,722,982 (GRCm39) |
K260N |
probably damaging |
Het |
| Sync |
A |
T |
4: 129,187,375 (GRCm39) |
M136L |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,120,638 (GRCm39) |
V425A |
probably benign |
Het |
| Trim21 |
T |
A |
7: 102,208,742 (GRCm39) |
M326L |
probably benign |
Het |
| Trim62 |
A |
G |
4: 128,790,677 (GRCm39) |
Q158R |
probably benign |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,964 (GRCm39) |
K663M |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,202,316 (GRCm39) |
I1094V |
probably damaging |
Het |
| Urb1 |
A |
G |
16: 90,594,798 (GRCm39) |
S245P |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,351,838 (GRCm39) |
D34V |
probably null |
Het |
| Zbtb45 |
C |
T |
7: 12,741,326 (GRCm39) |
A311T |
possibly damaging |
Het |
| Zfp655 |
T |
C |
5: 145,173,999 (GRCm39) |
S135P |
unknown |
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 |
|
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'- AGAGCAGTTACCAAACCATAGG -3'
(R):5'- AATGTTGTGCTGCCATGCC -3'
Sequencing Primer
(F):5'- GAAGTAGGTGCCTAGAACTAATTCC -3'
(R):5'- TGCCATGCCTCCCGGAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation