Incidental Mutation 'R3438:Vpreb3'
| ID |
267286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vpreb3
|
| Ensembl Gene |
ENSMUSG00000000903 |
| Gene Name |
V-set pre-B cell surrogate light chain 3 |
| Synonyms |
8HS-20, Vpreb-3 |
| MMRRC Submission |
040656-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3438 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
75778891-75785491 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 75779056 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121151]
[ENSMUST00000219979]
|
| AlphaFold |
D3Z6J4 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000059658
|
| SMART Domains |
Protein: ENSMUSP00000055979
Gene: ENSMUSG00000050157
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Il2rg
|
2 |
89 |
6.7e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117331
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000121151
AA Change: A2V
|
| SMART Domains |
Protein: ENSMUSP00000113205
Gene: ENSMUSG00000000903
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
43 |
124 |
1.81e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219979
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,575,673 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Ampd3 |
T |
C |
7: 110,402,433 (GRCm39) |
I479T |
probably damaging |
Het |
| Aoah |
G |
A |
13: 21,101,242 (GRCm39) |
R254K |
probably benign |
Het |
| Appbp2 |
T |
C |
11: 85,088,966 (GRCm39) |
E358G |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,752,991 (GRCm39) |
S2294P |
possibly damaging |
Het |
| Cux1 |
T |
C |
5: 136,340,414 (GRCm39) |
E632G |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,272,769 (GRCm39) |
N148S |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,764,395 (GRCm39) |
|
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,356 (GRCm39) |
S114C |
probably damaging |
Het |
| Dmtn |
T |
A |
14: 70,850,156 (GRCm39) |
I263F |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,368,302 (GRCm39) |
H1029N |
probably damaging |
Het |
| Gm10770 |
T |
A |
2: 150,021,469 (GRCm39) |
|
probably null |
Het |
| Gnb1l |
A |
G |
16: 18,371,117 (GRCm39) |
T203A |
probably benign |
Het |
| Kng2 |
T |
C |
16: 22,830,821 (GRCm39) |
I163V |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,102,161 (GRCm39) |
D1479G |
probably benign |
Het |
| Larp7-ps |
A |
C |
4: 92,079,919 (GRCm39) |
V23G |
possibly damaging |
Het |
| Lhx4 |
T |
A |
1: 155,578,230 (GRCm39) |
D304V |
probably benign |
Het |
| Mybl1 |
G |
T |
1: 9,757,870 (GRCm39) |
T143K |
probably damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,564 (GRCm39) |
C630Y |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,904,707 (GRCm39) |
I243V |
probably benign |
Het |
| Or8b55 |
T |
G |
9: 38,727,512 (GRCm39) |
F238V |
probably damaging |
Het |
| Or9e1 |
G |
T |
11: 58,732,698 (GRCm39) |
G253* |
probably null |
Het |
| Otoa |
A |
G |
7: 120,759,566 (GRCm39) |
E1056G |
possibly damaging |
Het |
| Plin4 |
A |
G |
17: 56,414,193 (GRCm39) |
V144A |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,384,328 (GRCm39) |
|
probably benign |
Het |
| Stk31 |
A |
G |
6: 49,414,455 (GRCm39) |
S485G |
probably benign |
Het |
| Tanc2 |
C |
T |
11: 105,748,401 (GRCm39) |
P511L |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,357,062 (GRCm39) |
D309G |
probably damaging |
Het |
| Vsx2 |
A |
T |
12: 84,616,985 (GRCm39) |
Q90L |
probably damaging |
Het |
|
| Other mutations in Vpreb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01743:Vpreb3
|
APN |
10 |
75,784,231 (GRCm39) |
missense |
probably benign |
|
|
IGL02051:Vpreb3
|
APN |
10 |
75,784,244 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCTTCCTTGAACAGCC -3'
(R):5'- CGCAAACCAAGTATGCAACTGG -3'
Sequencing Primer
(F):5'- TGAACAGCCCCCAGTTTG -3'
(R):5'- CTTTCCTATAAAGGGTGAGCACAC -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation