Incidental Mutation 'R8052:Cd79b'
ID 619126
Institutional Source Beutler Lab
Gene Symbol Cd79b
Ensembl Gene ENSMUSG00000040592
Gene Name CD79B antigen
Synonyms Igbeta, Ig-beta, Igb, B29
MMRRC Submission 067489-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.098) question?
Stock # R8052 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 106311341-106314762 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106313700 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 87 (P87T)
Ref Sequence ENSEMBL: ENSMUSP00000048239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021056] [ENSMUST00000044228] [ENSMUST00000167143]
AlphaFold P15530
Predicted Effect probably benign
Transcript: ENSMUST00000021056
SMART Domains Protein: ENSMUSP00000021056
Gene: ENSMUSG00000001027

Pfam:Ion_trans 130 452 1.1e-80 PFAM
low complexity region 473 491 N/A INTRINSIC
Pfam:Ion_trans 571 805 4.2e-56 PFAM
Pfam:Na_trans_assoc 810 1020 3.2e-59 PFAM
Pfam:Ion_trans 1024 1299 1.4e-64 PFAM
Pfam:Ion_trans 1346 1603 6.1e-55 PFAM
Pfam:PKD_channel 1441 1598 1.4e-6 PFAM
IQ 1720 1742 2.5e-2 SMART
low complexity region 1815 1827 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000044228
AA Change: P87T

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: P87T

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 possibly damaging
Transcript: ENSMUST00000167143
AA Change: P27T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: P27T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik TCC TCCCCC 6: 96,165,103 (GRCm38) probably benign Het
1700123L14Rik TCC TCCGCC 6: 96,165,097 (GRCm38) probably benign Het
2010111I01Rik G A 13: 63,068,251 (GRCm38) V446I probably damaging Het
Abi1 T C 2: 22,953,543 (GRCm38) T297A probably benign Het
Acadl G T 1: 66,853,178 (GRCm38) T162K probably benign Het
Aldoart2 A T 12: 55,565,751 (GRCm38) I154F probably damaging Het
Alkbh8 G A 9: 3,385,478 (GRCm38) R625H probably damaging Het
Ankrd31 T A 13: 96,832,528 (GRCm38) V891E probably benign Het
Atp8b5 C T 4: 43,356,982 (GRCm38) R577* probably null Het
Capn3 G T 2: 120,486,386 (GRCm38) E285D probably benign Het
Celsr2 T G 3: 108,412,655 (GRCm38) D947A probably damaging Het
Csmd3 A C 15: 47,706,387 (GRCm38) S1213R Het
Cyp2j5 T C 4: 96,664,004 (GRCm38) M3V probably benign Het
Ddi1 C T 9: 6,265,787 (GRCm38) R194K probably benign Het
Decr1 T C 4: 15,933,019 (GRCm38) K49R probably benign Het
Dnah10 A C 5: 124,828,511 (GRCm38) E4130A probably benign Het
Dst A G 1: 34,284,363 (GRCm38) D4648G probably damaging Het
Ecd A G 14: 20,329,952 (GRCm38) probably null Het
Erbin A T 13: 103,834,356 (GRCm38) Y917* probably null Het
Evpl T C 11: 116,223,163 (GRCm38) K1234E probably benign Het
F11r T A 1: 171,461,623 (GRCm38) Y218N possibly damaging Het
Fam43a C G 16: 30,601,804 (GRCm38) T402S probably benign Het
Frem2 T C 3: 53,549,643 (GRCm38) N2096S probably benign Het
Gm7697 A T 8: 69,522,752 (GRCm38) Y21N possibly damaging Het
Gpd2 T A 2: 57,306,950 (GRCm38) Y172* probably null Het
Hscb A G 5: 110,835,978 (GRCm38) V90A probably benign Het
Iqgap2 T C 13: 95,657,879 (GRCm38) D1195G probably damaging Het
Map2k2 T C 10: 81,115,066 (GRCm38) I115T probably damaging Het
Mast2 C T 4: 116,312,975 (GRCm38) R707H probably damaging Het
Mindy4 A G 6: 55,300,992 (GRCm38) N607S probably damaging Het
Mrpl9 T A 3: 94,443,743 (GRCm38) Y77N probably damaging Het
Muc16 G A 9: 18,659,051 (GRCm38) T724I unknown Het
Nat3 A T 8: 67,547,826 (GRCm38) Y119F possibly damaging Het
Nol7 T C 13: 43,401,514 (GRCm38) S208P probably damaging Het
Notch3 A T 17: 32,146,571 (GRCm38) C1056S probably damaging Het
Olfr1039 A T 2: 86,131,377 (GRCm38) Y95* probably null Het
Olfr146 G T 9: 39,019,487 (GRCm38) T18K probably damaging Het
Olfr399 T A 11: 74,054,475 (GRCm38) I95F probably benign Het
Olfr71 A T 4: 43,705,884 (GRCm38) V228E probably damaging Het
Osbpl3 A C 6: 50,346,015 (GRCm38) L288R probably damaging Het
Oscp1 A C 4: 126,088,323 (GRCm38) D352A possibly damaging Het
Pcdh9 G A 14: 93,885,786 (GRCm38) R983C probably benign Het
Pcdhgb8 T C 18: 37,763,502 (GRCm38) S542P probably benign Het
Pi4ka T C 16: 17,356,166 (GRCm38) T490A Het
Pkd1l1 A T 11: 8,947,315 (GRCm38) D531E Het
Prr3 G T 17: 35,979,161 (GRCm38) D26E possibly damaging Het
Psmd8 T C 7: 29,180,576 (GRCm38) K24E probably benign Het
Rasgrp4 G A 7: 29,149,937 (GRCm38) C583Y probably damaging Het
Rest A G 5: 77,268,324 (GRCm38) I128M probably benign Het
Rftn1 A T 17: 50,086,579 (GRCm38) F144I probably damaging Het
Rusc2 T C 4: 43,421,851 (GRCm38) F757S probably benign Het
Ryr1 A G 7: 29,083,385 (GRCm38) S1942P probably benign Het
Sdk2 C T 11: 113,854,351 (GRCm38) R706Q probably damaging Het
Sergef G T 7: 46,614,638 (GRCm38) T275K probably damaging Het
Serpina10 T C 12: 103,628,310 (GRCm38) T217A probably damaging Het
Shd G C 17: 55,976,235 (GRCm38) S288T probably damaging Het
Siglec15 C A 18: 78,048,588 (GRCm38) A133S possibly damaging Het
Stat4 C T 1: 52,079,773 (GRCm38) P325L probably damaging Het
Syt8 G A 7: 142,440,144 (GRCm38) G344D probably damaging Het
Tes A G 6: 17,097,292 (GRCm38) E133G probably benign Het
Tmprss2 T C 16: 97,568,416 (GRCm38) Y386C probably damaging Het
Tnfrsf11b A T 15: 54,252,106 (GRCm38) L365Q probably damaging Het
Tns1 T A 1: 73,953,437 (GRCm38) D67V probably damaging Het
Tns2 T C 15: 102,112,845 (GRCm38) S982P probably damaging Het
Tpcn2 A T 7: 145,260,946 (GRCm38) F473I probably benign Het
Tsg101 A T 7: 46,892,509 (GRCm38) I232N probably damaging Het
Ttc3 T C 16: 94,467,989 (GRCm38) S1977P probably benign Het
Ttll11 T A 2: 35,979,515 (GRCm38) E37V unknown Het
Ttn A T 2: 76,818,816 (GRCm38) V12716E possibly damaging Het
Vmn2r70 A C 7: 85,563,715 (GRCm38) S495A probably benign Het
Zfp974 A G 7: 27,911,272 (GRCm38) C343R probably damaging Het
Zfy1 A T Y: 726,004 (GRCm38) I587N possibly damaging Het
Other mutations in Cd79b
AlleleSourceChrCoordTypePredicted EffectPPH Score
hallasan UTSW 11 106,312,441 (GRCm38) critical splice acceptor site probably null
Jeju UTSW 11 106,312,713 (GRCm38) missense probably damaging 1.00
R0070:Cd79b UTSW 11 106,311,918 (GRCm38) splice site probably benign
R0070:Cd79b UTSW 11 106,311,918 (GRCm38) splice site probably benign
R0731:Cd79b UTSW 11 106,312,433 (GRCm38) missense probably damaging 1.00
R4400:Cd79b UTSW 11 106,312,010 (GRCm38) nonsense probably null
R4591:Cd79b UTSW 11 106,312,046 (GRCm38) missense probably damaging 1.00
R4948:Cd79b UTSW 11 106,312,861 (GRCm38) missense probably benign 0.01
R6214:Cd79b UTSW 11 106,312,441 (GRCm38) critical splice acceptor site probably null
R6215:Cd79b UTSW 11 106,312,441 (GRCm38) critical splice acceptor site probably null
R6605:Cd79b UTSW 11 106,312,713 (GRCm38) missense probably damaging 1.00
R7111:Cd79b UTSW 11 106,314,539 (GRCm38) missense possibly damaging 0.73
R7114:Cd79b UTSW 11 106,311,887 (GRCm38) missense probably damaging 1.00
R7401:Cd79b UTSW 11 106,312,852 (GRCm38) missense probably benign 0.02
R8790:Cd79b UTSW 11 106,312,047 (GRCm38) missense possibly damaging 0.93
R8921:Cd79b UTSW 11 106,312,806 (GRCm38) missense probably benign 0.07
R9717:Cd79b UTSW 11 106,312,019 (GRCm38) missense probably damaging 1.00
R9753:Cd79b UTSW 11 106,312,631 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2020-01-23