Mutagenetix > Incidental Mutation

Incidental Mutation 'R4591:Cd79b'

499992

Institutional Source

Beutler Lab

Gene Symbol

Cd79b

Ensembl Gene

ENSMUSG00000040592

Gene Name

CD79B antigen

Synonyms

Igbeta, B29, Ig-beta, Igb

Accession Numbers

Essential gene?

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

Stock #

R4591 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106202167-106205388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106202872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 243 (D243E)

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: D243E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: D243E

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

possibly damaging
Transcript: ENSMUST00000167143
AA Change: D183E

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: D183E

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,599 (GRCm39)	S187P	possibly damaging	Het
4932438H23Rik	T	C	16: 90,852,959 (GRCm39)	N59S	probably damaging	Het
Abca15	A	T	7: 119,981,636 (GRCm39)	D1030V	probably damaging	Het
Acmsd	A	T	1: 127,676,934 (GRCm39)	N153I	probably damaging	Het
Adprh	C	A	16: 38,266,345 (GRCm39)	V266L	probably benign	Het
Aldh5a1	G	A	13: 25,107,991 (GRCm39)	P217S	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Alyref	C	T	11: 120,486,799 (GRCm39)	R154Q	probably benign	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Aox3	A	T	1: 58,191,815 (GRCm39)	I456F	probably damaging	Het
Art4	A	G	6: 136,831,755 (GRCm39)	Y129H	probably damaging	Het
Asb16	C	A	11: 102,167,551 (GRCm39)	H306N	probably damaging	Het
Atp8a2	C	A	14: 59,892,078 (GRCm39)	R1090L	probably benign	Het
Brap	G	T	5: 121,800,113 (GRCm39)	V1F	probably null	Het
C1qb	C	A	4: 136,609,528 (GRCm39)	G31W	probably damaging	Het
Cacna2d4	T	C	6: 119,275,425 (GRCm39)	Y666H	probably benign	Het
Casr	T	C	16: 36,320,732 (GRCm39)	N472S	probably benign	Het
Ccdc91	T	G	6: 147,491,963 (GRCm39)	S282A	unknown	Het
Cd300lg	A	G	11: 101,937,006 (GRCm39)	T164A	probably benign	Het
Cdh6	C	A	15: 13,051,572 (GRCm39)	V354F	possibly damaging	Het
Cdhr2	A	G	13: 54,863,497 (GRCm39)	N126S	probably benign	Het
Cep192	A	T	18: 67,968,039 (GRCm39)	N841I	probably damaging	Het
Cngb1	T	C	8: 95,980,012 (GRCm39)	T963A	probably damaging	Het
Col16a1	A	G	4: 129,955,592 (GRCm39)		probably null	Het
Coro1a	A	G	7: 126,302,164 (GRCm39)	V61A	probably damaging	Het
Crocc	T	A	4: 140,745,983 (GRCm39)	D1712V	probably damaging	Het
Ddn	T	C	15: 98,705,687 (GRCm39)	D3G	possibly damaging	Het
Dnal1	T	C	12: 84,180,627 (GRCm39)	F89S	probably benign	Het
Dusp3	T	A	11: 101,864,446 (GRCm39)		probably benign	Het
Dyrk3	C	A	1: 131,057,895 (GRCm39)	G58C	probably damaging	Het
Fat1	T	C	8: 45,479,279 (GRCm39)	F2775S	probably benign	Het
Frk	A	G	10: 34,481,829 (GRCm39)	N373S	probably benign	Het
Glmn	A	G	5: 107,708,917 (GRCm39)		probably null	Het
Gm11565	A	T	11: 99,805,769 (GRCm39)	T54S	possibly damaging	Het
Gm14410	A	G	2: 176,885,820 (GRCm39)	I148T	possibly damaging	Het
Gm21834	T	A	17: 58,048,880 (GRCm39)	H112L	possibly damaging	Het
Gm5862	A	G	5: 26,224,486 (GRCm39)	I161T	possibly damaging	Het
Grid2	G	T	6: 64,297,086 (GRCm39)	G483V	probably damaging	Het
Hfm1	A	T	5: 106,995,533 (GRCm39)	S1293T	probably benign	Het
Il1a	G	A	2: 129,148,447 (GRCm39)	R88W	probably damaging	Het
Il20rb	A	T	9: 100,357,043 (GRCm39)	V29D	possibly damaging	Het
Ilvbl	C	T	10: 78,419,139 (GRCm39)	L463F	probably benign	Het
Kif17	A	G	4: 138,005,110 (GRCm39)	E225G	probably benign	Het
Lrp2	A	G	2: 69,366,419 (GRCm39)	F227L	probably damaging	Het
Lrrc43	A	G	5: 123,639,227 (GRCm39)	M419V	probably benign	Het
Magel2	A	G	7: 62,030,837 (GRCm39)	Q1247R	unknown	Het
Mamdc4	T	A	2: 25,454,609 (GRCm39)	M1068L	possibly damaging	Het
Mdn1	T	G	4: 32,707,636 (GRCm39)	S1642A	probably damaging	Het
Mtarc1	T	C	1: 184,539,365 (GRCm39)	E102G	probably benign	Het
Mtcl1	T	C	17: 66,655,506 (GRCm39)	E819G	probably benign	Het
Naa15	T	C	3: 51,349,345 (GRCm39)	L38P	probably damaging	Het
Nlrp3	A	G	11: 59,440,048 (GRCm39)	R542G	probably benign	Het
Or10c1	C	T	17: 37,522,010 (GRCm39)	V245I	probably benign	Het
Or4d2b	A	G	11: 87,780,375 (GRCm39)	S116P	probably benign	Het
Or5ac19	A	C	16: 59,089,776 (GRCm39)	F85V	possibly damaging	Het
Or5b125-ps1	ACAC	ACACGCAC	19: 13,056,266 (GRCm39)		noncoding transcript	Het
Pbxip1	T	A	3: 89,353,467 (GRCm39)	L249Q	probably benign	Het
Pla2g7	T	C	17: 43,911,450 (GRCm39)	S201P	probably damaging	Het
Psmd1	G	T	1: 86,055,926 (GRCm39)	V763F	probably benign	Het
Ptp4a2	A	G	4: 129,740,308 (GRCm39)	E124G	probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rbks	T	A	5: 31,817,352 (GRCm39)	K139M	possibly damaging	Het
Rgs22	T	A	15: 36,100,282 (GRCm39)	E268D	probably benign	Het
Slc16a9	T	G	10: 70,118,710 (GRCm39)	L343R	probably damaging	Het
Smagp	T	C	15: 100,519,860 (GRCm39)	I55V	probably damaging	Het
Sox13	T	C	1: 133,311,421 (GRCm39)	S604G	probably damaging	Het
St6gal1	G	T	16: 23,140,044 (GRCm39)	V72F	probably benign	Het
Stxbp4	A	G	11: 90,485,606 (GRCm39)	V247A	probably benign	Het
Susd3	A	T	13: 49,384,736 (GRCm39)	M217K	possibly damaging	Het
Tas2r129	T	A	6: 132,928,574 (GRCm39)	N170K	probably benign	Het
Tmem245	C	A	4: 56,910,204 (GRCm39)	A515S	probably damaging	Het
Tpte	T	C	8: 22,817,791 (GRCm39)	V259A	probably benign	Het
Trpa1	T	C	1: 14,952,332 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,371,147 (GRCm39)	R532H	probably damaging	Het
Vwa5a	A	T	9: 38,646,916 (GRCm39)	N529I	possibly damaging	Het
Zfp574	T	C	7: 24,778,969 (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
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
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'- CTGTCCGAAGAGTCACTATGTC -3'
(R):5'- GGCAGGGTCTCCATATTCTGAG -3'

Sequencing Primer
(F):5'- CTATGTCTTCATAGGTGGCTGTC -3'
(R):5'- GGGTCTCCATATTCTGAGACTCTG -3'

Posted On

2017-11-30