Incidental Mutation 'IGL01896:Cd19'
ID179392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd19
Ensembl Gene ENSMUSG00000030724
Gene NameCD19 antigen
SynonymsAW495831
Accession Numbers

Ncbi Ref Seq: NM_009844.2; MGI: 88319

Is this an essential gene? Probably essential (E-score: 0.755) question?
Stock #IGL01896
Quality Score
Status
Chromosome7
Chromosomal Location126408450-126414889 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126414350 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 89 (D89G)
Ref Sequence ENSEMBL: ENSMUSP00000145803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]
Predicted Effect possibly damaging
Transcript: ENSMUST00000032968
AA Change: D89G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724
AA Change: D89G

DomainStartEndE-ValueType
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: D89G

PolyPhen 2 Score 0.740 (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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,225,158 F509Y possibly damaging Het
Acot11 T A 4: 106,771,367 I75F probably damaging Het
Atp1a2 T A 1: 172,286,011 N427Y probably damaging Het
Clca1 T A 3: 145,015,677 T378S possibly damaging Het
Cltc A T 11: 86,725,133 C436S probably damaging Het
Def8 G A 8: 123,459,895 V429M probably benign Het
Dnah9 A T 11: 66,130,666 D311E possibly damaging Het
Dpy19l4 T C 4: 11,267,752 K396R possibly damaging Het
Eif4b T C 15: 102,095,286 S597P probably benign Het
Ezh1 A T 11: 101,213,755 N155K probably benign Het
Glud1 A G 14: 34,319,905 S157G probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5600 T C 7: 113,707,984 noncoding transcript Het
Hnf4g T A 3: 3,651,410 V298E probably damaging Het
Hspd1 C T 1: 55,079,109 R446Q probably benign Het
Lyst A G 13: 13,635,577 I611V probably benign Het
Map4k3 T C 17: 80,613,931 E524G probably benign Het
Mepe A G 5: 104,338,269 D425G possibly damaging Het
Myo1a G T 10: 127,719,904 V921L probably benign Het
Plxdc1 A T 11: 97,924,582 M470K probably damaging Het
Prim1 A G 10: 128,022,889 Y222C probably damaging Het
Ptpn13 A G 5: 103,501,523 N264S possibly damaging Het
Qrsl1 T C 10: 43,876,504 D441G probably benign Het
Samd9l G T 6: 3,375,120 Q714K probably benign Het
Scrib T C 15: 76,066,118 E293G possibly damaging Het
Slc12a2 T A 18: 57,896,308 N255K probably benign Het
Slc6a6 T C 6: 91,726,069 I141T probably damaging Het
Slc9a1 T C 4: 133,418,059 L485P probably damaging Het
Slfn8 A T 11: 83,003,696 Y706N probably damaging Het
Tlr5 T C 1: 182,974,879 F583L possibly damaging Het
Tmprss15 A G 16: 79,090,790 V43A probably benign Het
Ttc24 T C 3: 88,070,413 probably null Het
Ttc7 A G 17: 87,359,124 T606A probably damaging Het
Ubap2 G T 4: 41,202,362 P689T possibly damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wfdc8 A T 2: 164,605,780 M120K probably damaging Het
Other mutations in Cd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Cd19 APN 7 126410793 splice site probably null
IGL02465:Cd19 APN 7 126413558 missense possibly damaging 0.65
IGL02824:Cd19 APN 7 126410654 missense probably damaging 0.96
IGL03164:Cd19 APN 7 126413509 missense possibly damaging 0.95
hive UTSW 7 126412109 missense probably damaging 1.00
R0076:Cd19 UTSW 7 126410862 missense probably damaging 1.00
R0076:Cd19 UTSW 7 126410862 missense probably damaging 1.00
R1147:Cd19 UTSW 7 126411045 missense possibly damaging 0.60
R1147:Cd19 UTSW 7 126411045 missense possibly damaging 0.60
R1860:Cd19 UTSW 7 126409641 missense probably damaging 1.00
R2309:Cd19 UTSW 7 126414275 missense probably benign 0.01
R4422:Cd19 UTSW 7 126413406 missense probably benign 0.31
R4532:Cd19 UTSW 7 126412109 missense probably damaging 1.00
R4649:Cd19 UTSW 7 126414492 missense probably benign 0.00
R5400:Cd19 UTSW 7 126414452 missense probably benign 0.34
R6846:Cd19 UTSW 7 126410853 missense probably benign 0.28
R7027:Cd19 UTSW 7 126410499 missense possibly damaging 0.72
R7226:Cd19 UTSW 7 126414823 missense unknown
R7464:Cd19 UTSW 7 126411803 missense probably damaging 1.00
R7612:Cd19 UTSW 7 126414324 missense possibly damaging 0.87
R7797:Cd19 UTSW 7 126413508 missense probably damaging 1.00
R7869:Cd19 UTSW 7 126410526 missense probably damaging 1.00
R7885:Cd19 UTSW 7 126412131 missense probably benign 0.03
R7952:Cd19 UTSW 7 126410526 missense probably damaging 1.00
R7968:Cd19 UTSW 7 126412131 missense probably benign 0.03
Posted On2014-05-07