Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Cd79b'

619126

Institutional Source

Beutler Lab

Gene Symbol

Cd79b

Ensembl Gene

ENSMUSG00000040592

Gene Name

CD79B antigen

Synonyms

Igbeta, B29, Ig-beta, Igb

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

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

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106202167-106205388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106204526 bp (GRCm39)

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

Domain	Start	End	E-Value	Type
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

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: P27T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129029
Gene: ENSMUSG00000040592
AA Change: P27T

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: 99.5%

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
F11r	T	A	1: 171,289,191 (GRCm39)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,142,078 (GRCm39)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,142,084 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rest	A	G	5: 77,416,171 (GRCm39)	I128M	probably benign	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Shd	G	C	17: 56,283,235 (GRCm39)	S288T	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Syt8	G	A	7: 141,993,881 (GRCm39)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	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
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'- CAGCAATGGAGCCTTAATGAG -3'
(R):5'- GCCTGATGATCAAAGGCAGC -3'

Sequencing Primer
(F):5'- CCTTAATGAGGCCTTGAGGAG -3'
(R):5'- GGGATTTCCAGTACCCATACC -3'

Posted On

2020-01-23