Incidental Mutation 'IGL02243:Cd19'
ID 286078
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) question?
Stock # IGL02243
Quality Score
Status
Chromosome 7
Chromosomal Location 126007622-126014061 bp(-) (GRCm39)
Type of Mutation splice site (4 bp from exon)
DNA Base Change (assembly) T to C at 126009965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032968] [ENSMUST00000206325]
AlphaFold P25918
Predicted Effect probably null
Transcript: ENSMUST00000032968
SMART Domains Protein: ENSMUSP00000032968
Gene: ENSMUSG00000030724

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 probably null
Transcript: ENSMUST00000206325
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
Apc2 A G 10: 80,138,175 (GRCm39) Y87C probably damaging Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Brsk2 T C 7: 141,547,036 (GRCm39) F493S probably damaging Het
Cfap91 T C 16: 38,162,142 (GRCm39) probably benign Het
Chd2 T C 7: 73,147,456 (GRCm39) probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ddx19a T G 8: 111,703,088 (GRCm39) I450L probably benign Het
Edn2 G A 4: 120,019,229 (GRCm39) probably null Het
Elp2 G A 18: 24,755,663 (GRCm39) R470Q probably benign Het
Fhdc1 T G 3: 84,381,947 (GRCm39) M1L possibly damaging Het
Gba2 A T 4: 43,568,719 (GRCm39) I619N probably benign Het
Glce A G 9: 61,977,422 (GRCm39) F154S probably damaging Het
Gm3476 A T 14: 6,122,811 (GRCm38) C195* probably null Het
Hsp90aa1 A G 12: 110,661,525 (GRCm39) S164P probably damaging Het
Iqcg T C 16: 32,865,962 (GRCm39) D127G probably damaging Het
Jag2 G A 12: 112,879,965 (GRCm39) T381I possibly damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lhx2 T A 2: 38,243,531 (GRCm39) probably benign Het
Lrrc2 A T 9: 110,799,125 (GRCm39) N158I probably damaging Het
M1ap C T 6: 83,003,269 (GRCm39) P389S probably damaging Het
Masp2 A T 4: 148,687,525 (GRCm39) D104V probably benign Het
Met G A 6: 17,549,093 (GRCm39) V982I probably damaging Het
Msh2 T A 17: 87,985,796 (GRCm39) probably benign Het
Myh9 A G 15: 77,651,682 (GRCm39) L1509P probably damaging Het
Mylk2 A G 2: 152,762,473 (GRCm39) H554R probably damaging Het
Oxr1 T G 15: 41,399,097 (GRCm39) probably benign Het
Pdp1 A T 4: 11,961,873 (GRCm39) V146D probably benign Het
Pdzrn4 A T 15: 92,668,577 (GRCm39) M910L probably benign Het
Prl2a1 T C 13: 27,991,400 (GRCm39) probably benign Het
Rapgef6 C T 11: 54,567,226 (GRCm39) P1136S probably damaging Het
Rasgef1c A T 11: 49,848,217 (GRCm39) S69C possibly damaging Het
Rnaseh1 C T 12: 28,705,631 (GRCm39) R152W probably damaging Het
Sele T C 1: 163,880,537 (GRCm39) V373A probably benign Het
Tmem67 G A 4: 12,070,584 (GRCm39) S314L possibly damaging Het
Traf4 T C 11: 78,051,343 (GRCm39) E271G probably benign Het
Trim39 T C 17: 36,571,276 (GRCm39) D494G probably damaging Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Other mutations in Cd19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01896:Cd19 APN 7 126,013,522 (GRCm39) missense possibly damaging 0.74
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
R9714:Cd19 UTSW 7 126,010,230 (GRCm39) missense probably benign 0.36
Posted On 2015-04-16