Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Cd79b'

551695

Institutional Source

Beutler Lab

Gene Symbol

Cd79b

Ensembl Gene

ENSMUSG00000040592

Gene Name

CD79B antigen

Synonyms

Igbeta, B29, Ig-beta, Igb

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7114 (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 106202713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 263 (T263S)

Ref Sequence

ENSEMBL: ENSMUSP00000048239 (fasta)

Gene Model

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

AlphaFold

P15530

Predicted Effect

probably damaging
Transcript: ENSMUST00000044228
AA Change: T263S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: T263S

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: T203S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: T203S

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: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmeff2	T	A	1: 51,224,404 (GRCm39)		probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		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
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
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'- GGTATTGATGGTCCAGCTTCAG -3'
(R):5'- AACCCTCTGAACTGCATTCC -3'

Sequencing Primer
(F):5'- ATGGTCCAGCTTCAGACGCTG -3'
(R):5'- GAACTGCATTCCCTCCCCAC -3'

Posted On

2019-05-15