Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:Cd79b'

679272

Institutional Source

Beutler Lab

Gene Symbol

Cd79b

Ensembl Gene

ENSMUSG00000040592

Gene Name

CD79B antigen

Synonyms

Igbeta, B29, Ig-beta, Igb

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106202167-106205388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106203632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 145 (Q145L)

Ref Sequence

ENSEMBL: ENSMUSP00000048239 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044228] [ENSMUST00000167143]

AlphaFold

P15530

Predicted Effect

probably benign
Transcript: ENSMUST00000044228
AA Change: Q145L

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: Q145L

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 benign
Transcript: ENSMUST00000167143
AA Change: Q85L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: Q85L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (79/79)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
4930516K23Rik	G	A	7: 103,708,083 (GRCm39)	T242M	probably damaging	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Akr1b1	A	T	6: 34,289,639 (GRCm39)	V57E	probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nbas	T	A	12: 13,463,590 (GRCm39)	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or52e2	T	C	7: 102,804,660 (GRCm39)	D98G	probably benign	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Tpm3-rs7	T	C	14: 113,552,493 (GRCm39)	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	possibly damaging	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
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
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'- AAGACTAGAAGTTCCGTGCCAC -3'
(R):5'- GACTGCCTCATGAACCTGATGC -3'

Sequencing Primer
(F):5'- CCACAGCTGTCGGTGACATTATG -3'
(R):5'- GAAGACGCTAAGCCTGATTTTGAACC -3'

Posted On

2021-08-02