Incidental Mutation 'IGL02051:Vpreb3'
ID 186124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vpreb3
Ensembl Gene ENSMUSG00000000903
Gene Name V-set pre-B cell surrogate light chain 3
Synonyms 8HS-20, Vpreb-3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02051
Quality Score
Status
Chromosome 10
Chromosomal Location 75778891-75785491 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 75784244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000000926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000926] [ENSMUST00000000926] [ENSMUST00000121151]
AlphaFold D3Z6J4
Predicted Effect probably null
Transcript: ENSMUST00000000926
SMART Domains Protein: ENSMUSP00000000926
Gene: ENSMUSG00000000903

DomainStartEndE-ValueType
IGv 36 117 1.81e-10 SMART
Predicted Effect probably null
Transcript: ENSMUST00000000926
SMART Domains Protein: ENSMUSP00000000926
Gene: ENSMUSG00000000903

DomainStartEndE-ValueType
IGv 36 117 1.81e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117331
Predicted Effect probably benign
Transcript: ENSMUST00000121151
SMART Domains Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903

DomainStartEndE-ValueType
IGv 43 124 1.81e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the human ortholog of the mouse VpreB3 (8HS20) protein, is thought to be involved in B-cell maturation, and may play a role in assembly of the pre-B cell receptor (pre-BCR). While the role of this protein in B-cell development has not yet been elucidated, studies with the chicken ortholog of this protein have found that when overexpressed, this protein localizes to the endoplasmic reticulum. The mouse ortholog of this protein has been shown to associate with membrane mu heavy chains early in the course of pre-B cell receptor biosynthesis. Expression of this gene has been observed in some lymphomas. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacul1 T C 19: 60,531,504 (GRCm39) D255G probably damaging Het
Chi3l1 T C 1: 134,111,887 (GRCm39) S94P probably damaging Het
Defa38 A G 8: 21,585,275 (GRCm39) probably benign Het
Dzip3 T C 16: 48,792,617 (GRCm39) T223A probably benign Het
Firrm T C 1: 163,785,091 (GRCm39) T763A probably benign Het
Gfra3 T C 18: 34,828,894 (GRCm39) T167A possibly damaging Het
Glb1l3 T C 9: 26,736,464 (GRCm39) I533V probably benign Het
Gm11437 T A 11: 84,043,592 (GRCm39) Q233L probably benign Het
Hif1an A G 19: 44,551,829 (GRCm39) Y93C probably damaging Het
Hspg2 A G 4: 137,295,700 (GRCm39) probably benign Het
Ints15 A G 5: 143,293,737 (GRCm39) C247R probably damaging Het
Mak G A 13: 41,195,558 (GRCm39) A385V probably benign Het
Mical2 G T 7: 111,980,597 (GRCm39) K190N probably benign Het
Moxd1 A G 10: 24,128,916 (GRCm39) probably null Het
Ptpn5 A G 7: 46,732,507 (GRCm39) probably null Het
Ryr1 A G 7: 28,771,083 (GRCm39) Y2614H probably benign Het
Sema3e T A 5: 14,274,324 (GRCm39) Y192N possibly damaging Het
Smpd4 T C 16: 17,444,382 (GRCm39) L145P probably damaging Het
Tesk2 A G 4: 116,608,381 (GRCm39) E101G probably damaging Het
Vmn1r68 A T 7: 10,261,948 (GRCm39) V50E probably benign Het
Vps72 T C 3: 95,030,040 (GRCm39) L353P possibly damaging Het
Other mutations in Vpreb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Vpreb3 APN 10 75,784,231 (GRCm39) missense probably benign
IGL03162:Vpreb3 APN 10 75,785,133 (GRCm39) missense probably damaging 1.00
R2319:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2891:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2892:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R2894:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3438:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3439:Vpreb3 UTSW 10 75,779,056 (GRCm39) unclassified probably benign
R3508:Vpreb3 UTSW 10 75,785,037 (GRCm39) missense probably benign 0.26
R3725:Vpreb3 UTSW 10 75,779,125 (GRCm39) critical splice donor site probably null
R3726:Vpreb3 UTSW 10 75,779,125 (GRCm39) critical splice donor site probably null
R3771:Vpreb3 UTSW 10 75,775,800 (GRCm39) missense probably benign 0.00
R4975:Vpreb3 UTSW 10 75,775,636 (GRCm39) missense probably damaging 1.00
Z1177:Vpreb3 UTSW 10 75,785,027 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07