Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Cd79b'

670888

Institutional Source

Beutler Lab

Gene Symbol

Cd79b

Ensembl Gene

ENSMUSG00000040592

Gene Name

CD79B antigen

Synonyms

Igbeta, B29, Ig-beta, Igb

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

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

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106202167-106205388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106202873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 243 (D243A)

Ref Sequence

ENSEMBL: ENSMUSP00000048239 (fasta)

Gene Model

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

AlphaFold

P15530

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044228
AA Change: D243A

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000048239
Gene: ENSMUSG00000040592
AA Change: D243A

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: D183A

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

SMART Domains

Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: D183A

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (83/83)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Adcy6	T	A	15: 98,496,881 (GRCm39)	T465S	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (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
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
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'- GTCCGAAGAGTCACTATGTCTTC -3'
(R):5'- TGGGCAGGGTCTCCATATTC -3'

Sequencing Primer
(F):5'- CATAGGTGGCTGTCTGGTCAATG -3'
(R):5'- GCAGGGTCTCCATATTCTGAGAC -3'

Posted On

2021-04-30