Incidental Mutation 'IGL03164:Cd19'
| ID |
411563 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cd19
|
| Ensembl Gene |
ENSMUSG00000030724 |
| Gene Name |
CD19 antigen |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.834)
|
| Stock # |
IGL03164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126007622-126014061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 126012681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 237
(M237I)
|
| 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: M237I
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: M237I
| 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 |
possibly damaging
Transcript: ENSMUST00000206325
AA Change: M237I
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206871
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
| Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
| Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
| Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
| Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
| Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
| Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
| Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
| Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
| Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
| Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
| Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
| Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
| Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
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 |
|
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 |
|
R9714:Cd19
|
UTSW |
7 |
126,010,230 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Posted On |
2016-08-02 |
Incidental Mutation