Incidental Mutation 'R6215:Cd79b'
| ID |
503674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd79b
|
| Ensembl Gene |
ENSMUSG00000040592 |
| Gene Name |
CD79B antigen |
| Synonyms |
Igbeta, B29, Ig-beta, Igb |
| MMRRC Submission |
044348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6215 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106202167-106205388 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to A
at 106203267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044228]
[ENSMUST00000044228]
[ENSMUST00000167143]
[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 null
Transcript: ENSMUST00000044228
|
| SMART Domains |
Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
| 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 null
Transcript: ENSMUST00000044228
|
| SMART Domains |
Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
| 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 null
Transcript: ENSMUST00000167143
|
| SMART Domains |
Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167143
|
| SMART Domains |
Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
| 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 |
0.9493 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (42/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,727,713 (GRCm39) |
W309* |
probably null |
Het |
| Aox1 |
G |
A |
1: 58,124,620 (GRCm39) |
V954I |
probably benign |
Het |
| Asnsd1 |
A |
C |
1: 53,387,187 (GRCm39) |
|
probably null |
Het |
| Aste1 |
A |
G |
9: 105,274,056 (GRCm39) |
K38E |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,899,664 (GRCm39) |
V339A |
probably damaging |
Het |
| Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
C |
A |
19: 21,789,751 (GRCm39) |
N650K |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,247,380 (GRCm39) |
L981P |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,029,761 (GRCm39) |
F132L |
probably damaging |
Het |
| Dhx9 |
G |
A |
1: 153,348,209 (GRCm39) |
P336S |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,303,945 (GRCm39) |
K1320E |
probably damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,668,463 (GRCm39) |
C573F |
possibly damaging |
Het |
| Dmtn |
A |
G |
14: 70,850,776 (GRCm39) |
I205T |
probably benign |
Het |
| Efnb3 |
C |
A |
11: 69,447,591 (GRCm39) |
V181L |
probably benign |
Het |
| Flg2 |
G |
T |
3: 93,109,166 (GRCm39) |
C398F |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,380,257 (GRCm39) |
D604G |
probably damaging |
Het |
| Glis2 |
T |
A |
16: 4,428,197 (GRCm39) |
L83* |
probably null |
Het |
| Gm10719 |
T |
A |
9: 3,019,040 (GRCm39) |
|
probably null |
Homo |
| Hipk3 |
T |
C |
2: 104,264,086 (GRCm39) |
D804G |
probably damaging |
Het |
| Kcnd1 |
G |
C |
X: 7,690,148 (GRCm39) |
A23P |
probably damaging |
Homo |
| Kcnj13 |
A |
G |
1: 87,314,256 (GRCm39) |
V322A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,688,426 (GRCm39) |
L617P |
probably damaging |
Het |
| Npc1 |
ACAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAG |
18: 12,369,249 (GRCm39) |
|
probably benign |
Het |
| Or8b3b |
A |
G |
9: 38,584,510 (GRCm39) |
S90P |
probably benign |
Het |
| Osgin1 |
G |
A |
8: 120,172,183 (GRCm39) |
V326I |
probably benign |
Het |
| Pcsk7 |
A |
C |
9: 45,821,674 (GRCm39) |
N156T |
possibly damaging |
Het |
| Pde4d |
C |
T |
13: 110,085,967 (GRCm39) |
S515L |
probably damaging |
Het |
| Peg10 |
GC |
GCCCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5a |
T |
A |
1: 191,094,447 (GRCm39) |
Q191L |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,381,695 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,325,380 (GRCm39) |
I1046V |
probably benign |
Het |
| Sh3glb2 |
T |
C |
2: 30,235,805 (GRCm39) |
E313G |
possibly damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,090,795 (GRCm39) |
Y541* |
probably null |
Het |
| Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,126,946 (GRCm39) |
K2021N |
probably benign |
Het |
| Speer1d |
C |
T |
5: 11,307,197 (GRCm39) |
T25I |
probably damaging |
Het |
| Tm6sf2 |
T |
C |
8: 70,525,724 (GRCm39) |
V27A |
possibly damaging |
Het |
| Tmem116 |
C |
T |
5: 121,629,171 (GRCm39) |
T188M |
probably benign |
Het |
| Trim21 |
A |
G |
7: 102,208,646 (GRCm39) |
S358P |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,795,838 (GRCm39) |
Y1224C |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,710,552 (GRCm39) |
|
probably benign |
Het |
| Vmn2r99 |
A |
G |
17: 19,602,820 (GRCm39) |
Q525R |
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 |
|
|
R6605:Cd79b
|
UTSW |
11 |
106,203,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTCAGAATATGGAGACCCTGCC -3'
(R):5'- GTGCAAGGTAGATTGTGTAGCC -3'
Sequencing Primer
(F):5'- GAATATGGAGACCCTGCCCATGTC -3'
(R):5'- GGTAGATTGTGTAGCCATCCACAC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation