Incidental Mutation 'R6605:Cd79b'
| ID |
525623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd79b
|
| Ensembl Gene |
ENSMUSG00000040592 |
| Gene Name |
CD79B antigen |
| Synonyms |
Igbeta, B29, Ig-beta, Igb |
| MMRRC Submission |
044728-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R6605 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106202167-106205388 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106203539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 116
(G116D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044228]
[ENSMUST00000167143]
|
| AlphaFold |
P15530 |
| PDB Structure |
Crystal structure of murine Ig-beta (CD79b) homodimer [X-RAY DIFFRACTION]
Crystal structure of murine Ig-beta (CD79b) in the monomeric form [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044228
AA Change: G176D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: G176D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
40 |
N/A |
INTRINSIC |
|
transmembrane domain
|
59 |
81 |
N/A |
INTRINSIC |
|
IG
|
110 |
202 |
3.56e-9 |
SMART |
|
transmembrane domain
|
220 |
239 |
N/A |
INTRINSIC |
|
ITAM
|
252 |
272 |
2.41e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167143
AA Change: G116D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: G116D
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
21 |
N/A |
INTRINSIC |
|
IG
|
50 |
142 |
3.56e-9 |
SMART |
|
transmembrane domain
|
160 |
179 |
N/A |
INTRINSIC |
|
ITAM
|
192 |
212 |
2.41e-4 |
SMART |
|
| Meta Mutation Damage Score |
0.9440 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
92% (35/38) |
| MGI Phenotype |
FUNCTION: The B lymphocyte antigen receptor is a multimeric complex that includes the antigen-specific component, surface immunoglobulin (Ig). Surface Ig non-covalently associates with two other proteins, Ig-alpha and Ig-beta, which are necessary for expression and function of the B-cell antigen receptor. This gene encodes the Ig-beta protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit arrested development of B cells at the pro-B cell stage due to diminished signaling of the B cell receptor. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
A |
7: 45,630,481 (GRCm39) |
I1260F |
probably damaging |
Het |
| Acat2 |
A |
G |
17: 13,162,774 (GRCm39) |
V358A |
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,636,081 (GRCm39) |
A3476V |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,229,516 (GRCm39) |
N150D |
probably damaging |
Het |
| Asb2 |
G |
T |
12: 103,311,943 (GRCm39) |
Q60K |
probably benign |
Het |
| Asxl3 |
A |
T |
18: 22,650,134 (GRCm39) |
R708* |
probably null |
Het |
| Copg2 |
A |
G |
6: 30,835,757 (GRCm39) |
F218S |
probably benign |
Het |
| Defa5 |
A |
C |
8: 21,787,604 (GRCm39) |
E50D |
possibly damaging |
Het |
| Efcab3 |
T |
A |
11: 104,890,107 (GRCm39) |
|
probably null |
Het |
| Eva1c |
T |
A |
16: 90,663,236 (GRCm39) |
V91D |
probably damaging |
Het |
| Fosb |
T |
C |
7: 19,043,283 (GRCm39) |
Y25C |
probably damaging |
Het |
| Gm5141 |
G |
A |
13: 62,922,201 (GRCm39) |
H323Y |
probably damaging |
Het |
| Gpr19 |
T |
C |
6: 134,847,398 (GRCm39) |
N58S |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,585,893 (GRCm39) |
A288T |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,229,460 (GRCm39) |
Q70L |
probably damaging |
Het |
| Ifit2 |
C |
T |
19: 34,550,897 (GRCm39) |
R146* |
probably null |
Het |
| Lgr5 |
A |
C |
10: 115,293,772 (GRCm39) |
N408K |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,692 (GRCm39) |
Y191* |
probably null |
Het |
| Npr3 |
C |
G |
15: 11,905,518 (GRCm39) |
A70P |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,208,541 (GRCm39) |
H56L |
probably damaging |
Het |
| Pcnt |
A |
G |
10: 76,265,032 (GRCm39) |
|
probably null |
Het |
| Pnlip |
A |
T |
19: 58,660,174 (GRCm39) |
D29V |
probably benign |
Het |
| Pnpt1 |
T |
A |
11: 29,088,567 (GRCm39) |
F277I |
possibly damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,793,006 (GRCm39) |
V441G |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,740,002 (GRCm39) |
V459A |
probably benign |
Het |
| Ptprs |
A |
T |
17: 56,729,195 (GRCm39) |
V855E |
probably damaging |
Het |
| Rflna |
A |
G |
5: 125,088,352 (GRCm39) |
T100A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,131,871 (GRCm39) |
S380T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Taar8a |
A |
T |
10: 23,952,674 (GRCm39) |
I93F |
possibly damaging |
Het |
| Taok2 |
T |
A |
7: 126,477,930 (GRCm39) |
D207V |
probably damaging |
Het |
| Tpst2 |
A |
T |
5: 112,424,600 (GRCm39) |
|
probably benign |
Homo |
| Trdv2-1 |
A |
G |
14: 54,183,999 (GRCm39) |
N77S |
possibly damaging |
Het |
| Wdr17 |
A |
C |
8: 55,134,559 (GRCm39) |
V18G |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,261 (GRCm39) |
V402A |
probably damaging |
Het |
| Zfp772 |
T |
C |
7: 7,208,547 (GRCm39) |
E99G |
possibly damaging |
Het |
| Zw10 |
A |
G |
9: 48,980,926 (GRCm39) |
D442G |
probably benign |
Het |
|
| Other mutations in Cd79b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
hallasan
|
UTSW |
11 |
106,203,267 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Jeju
|
UTSW |
11 |
106,203,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Cd79b
|
UTSW |
11 |
106,202,744 (GRCm39) |
splice site |
probably benign |
|
|
R0070:Cd79b
|
UTSW |
11 |
106,202,744 (GRCm39) |
splice site |
probably benign |
|
|
R0731:Cd79b
|
UTSW |
11 |
106,203,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4400:Cd79b
|
UTSW |
11 |
106,202,836 (GRCm39) |
nonsense |
probably null |
|
|
R4591:Cd79b
|
UTSW |
11 |
106,202,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4948:Cd79b
|
UTSW |
11 |
106,203,687 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6214:Cd79b
|
UTSW |
11 |
106,203,267 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6215:Cd79b
|
UTSW |
11 |
106,203,267 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7111:Cd79b
|
UTSW |
11 |
106,205,365 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7114:Cd79b
|
UTSW |
11 |
106,202,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7401:Cd79b
|
UTSW |
11 |
106,203,678 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8052:Cd79b
|
UTSW |
11 |
106,204,526 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8790:Cd79b
|
UTSW |
11 |
106,202,873 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8921:Cd79b
|
UTSW |
11 |
106,203,632 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9717:Cd79b
|
UTSW |
11 |
106,202,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Cd79b
|
UTSW |
11 |
106,203,457 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGACTCTAGAATCATAGCC -3'
(R):5'- GAAGCCCTTGTTCCCAGATC -3'
Sequencing Primer
(F):5'- GGGGACTCTAGAATCATAGCCACTTC -3'
(R):5'- AGCACCCGAGGTTTGCAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation