Incidental Mutation 'IGL03162:Vpreb3'
ID411463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vpreb3
Ensembl Gene ENSMUSG00000000903
Gene Namepre-B lymphocyte gene 3
Synonyms8HS-20, Vpreb-3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03162
Quality Score
Status
Chromosome10
Chromosomal Location75943057-75949657 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 75949299 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 77 (Y77C)
Ref Sequence ENSEMBL: ENSMUSP00000113205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000926] [ENSMUST00000121151]
Predicted Effect probably damaging
Transcript: ENSMUST00000000926
AA Change: Y70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000926
Gene: ENSMUSG00000000903
AA Change: Y70C

DomainStartEndE-ValueType
IGv 36 117 1.81e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117331
Predicted Effect probably damaging
Transcript: ENSMUST00000121151
AA Change: Y77C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903
AA Change: Y77C

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T A 15: 60,919,732 D92V probably damaging Het
Acsl3 T C 1: 78,699,170 probably null Het
Adam5 T C 8: 24,781,604 T596A probably benign Het
Adh6a T A 3: 138,329,119 Y336* probably null Het
Ak3 A T 19: 29,022,836 V225D possibly damaging Het
Aldh1a7 T A 19: 20,708,281 I302F probably benign Het
Amdhd1 T C 10: 93,531,475 probably null Het
Arhgef18 G A 8: 3,441,301 probably null Het
Caap1 A T 4: 94,501,024 probably benign Het
Cdhr4 G A 9: 107,998,011 G70D probably damaging Het
Celsr3 T C 9: 108,842,558 F2445S probably damaging Het
Cenpc1 A G 5: 86,037,905 V249A possibly damaging Het
Clca3a2 C A 3: 144,806,416 V80F probably damaging Het
Col6a1 T A 10: 76,718,051 probably benign Het
Commd10 T A 18: 47,087,050 L198Q probably damaging Het
Cyp2d40 A G 15: 82,760,042 L294P unknown Het
E2f6 T A 12: 16,818,908 D77E probably benign Het
Elf5 T A 2: 103,430,406 H38Q possibly damaging Het
Fam160b2 G T 14: 70,587,554 D447E probably damaging Het
Fam189a2 T G 19: 23,988,460 H225P probably damaging Het
Fcrl6 A G 1: 172,598,253 V227A probably damaging Het
Gabarapl2 T A 8: 111,942,536 V42D probably benign Het
Gm3543 A G 14: 41,980,065 I154T possibly damaging Het
Gpr150 T A 13: 76,056,831 probably benign Het
Gstp3 A G 19: 4,059,255 probably benign Het
Gzmm C T 10: 79,692,956 T64I probably damaging Het
Hs3st1 T A 5: 39,614,449 K284* probably null Het
Ints7 A G 1: 191,621,412 probably benign Het
Itih2 A T 2: 10,126,244 I94N probably damaging Het
Kif26b A G 1: 178,916,932 N1531S probably benign Het
Kif27 T C 13: 58,311,207 S937G probably benign Het
Klhl2 A G 8: 64,754,392 V311A probably damaging Het
Klrb1b T A 6: 128,818,929 Q109L probably null Het
Lrig2 A G 3: 104,464,297 F697L probably damaging Het
Lrrc66 T C 5: 73,607,382 R773G probably benign Het
Mettl11b T A 1: 163,703,214 I219L probably damaging Het
Mrgpra2b C T 7: 47,464,067 V306I probably benign Het
Nipbl T C 15: 8,338,979 H1127R probably benign Het
Nr3c2 A T 8: 77,217,584 D816V probably damaging Het
Olfr1152 A C 2: 87,868,140 M50L probably benign Het
Olfr518 T C 7: 108,881,604 M1V probably null Het
Pdxdc1 A G 16: 13,857,417 L350P probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Pnpla7 T C 2: 25,015,289 probably benign Het
Ppan T G 9: 20,891,312 L283R probably damaging Het
Rbfox3 A C 11: 118,496,431 S286A probably benign Het
Rbl2 A G 8: 91,085,702 T273A probably benign Het
Recql4 G T 15: 76,706,096 probably null Het
Slc22a26 T A 19: 7,802,101 M117L probably benign Het
Sult2a2 T A 7: 13,734,897 I96K probably damaging Het
Tcf15 G A 2: 152,148,706 R175H probably benign Het
Uggt1 A T 1: 36,207,956 V320D probably damaging Het
Vmn2r102 A G 17: 19,694,024 N617S probably damaging Het
Zbbx A T 3: 75,071,623 probably benign Het
Zfand6 A T 7: 84,633,977 S57R probably benign Het
Zmym2 A G 14: 56,914,043 I462V probably benign Het
Other mutations in Vpreb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Vpreb3 APN 10 75948397 missense probably benign
IGL02051:Vpreb3 APN 10 75948410 critical splice donor site probably null
R2319:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2891:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2892:Vpreb3 UTSW 10 75943222 unclassified probably benign
R2894:Vpreb3 UTSW 10 75943222 unclassified probably benign
R3438:Vpreb3 UTSW 10 75943222 unclassified probably benign
R3439:Vpreb3 UTSW 10 75943222 unclassified probably benign
R3508:Vpreb3 UTSW 10 75949203 missense probably benign 0.26
R3725:Vpreb3 UTSW 10 75943291 critical splice donor site probably null
R3726:Vpreb3 UTSW 10 75943291 critical splice donor site probably null
R3771:Vpreb3 UTSW 10 75939966 missense probably benign 0.00
R4975:Vpreb3 UTSW 10 75939802 missense probably damaging 1.00
Z1177:Vpreb3 UTSW 10 75949193 missense probably damaging 1.00
Posted On2016-08-02