Mutagenetix > Incidental Mutation

Incidental Mutation 'R7459:Cd79a'

578311

Institutional Source

Beutler Lab

Gene Symbol

Cd79a

Ensembl Gene

ENSMUSG00000003379

Gene Name

CD79A antigen (immunoglobulin-associated alpha)

Synonyms

Ly-54, Ig-alpha, Ig alpha, mb-1, Iga, Cd79a, Ly54, Igalpha

MMRRC Submission

045533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R7459 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24596922-24601283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24598567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 39 (T39S)

Ref Sequence

ENSEMBL: ENSMUSP00000003469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003469] [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117796] [ENSMUST00000206028] [ENSMUST00000206508]

AlphaFold

P11911

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003469
AA Change: T39S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000003469
Gene: ENSMUSG00000003379
AA Change: T39S

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	35	120	9.18e-12	SMART
transmembrane domain	138	160	N/A	INTRINSIC
ITAM	179	199	4.19e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000047873

SMART Domains

Protein: ENSMUSP00000046469
Gene: ENSMUSG00000040940

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	1.3e-72	PFAM
low complexity region	380	400	N/A	INTRINSIC
RhoGEF	419	603	1.87e-63	SMART
PH	647	761	4.68e-5	SMART
low complexity region	845	864	N/A	INTRINSIC
coiled coil region	867	890	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098683

SMART Domains

Protein: ENSMUSP00000096280
Gene: ENSMUSG00000040940

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	2.2e-78	PFAM
PDB:3ODW\|B	238	384	2e-57	PDB
low complexity region	396	412	N/A	INTRINSIC
low complexity region	439	459	N/A	INTRINSIC
RhoGEF	478	662	1.87e-63	SMART
PH	706	820	4.68e-5	SMART
low complexity region	904	923	N/A	INTRINSIC
coiled coil region	926	949	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000117796

SMART Domains

Protein: ENSMUSP00000113771
Gene: ENSMUSG00000040940

Domain	Start	End	E-Value	Type
low complexity region	5	13	N/A	INTRINSIC
Pfam:RGS-like	40	230	7.3e-73	PFAM
low complexity region	393	409	N/A	INTRINSIC
low complexity region	436	456	N/A	INTRINSIC
RhoGEF	475	659	1.87e-63	SMART
PH	703	817	4.68e-5	SMART
low complexity region	901	920	N/A	INTRINSIC
coiled coil region	923	946	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206028

Predicted Effect

probably benign
Transcript: ENSMUST00000206508

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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-alpha protein of the B-cell antigen component. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,756,933 (GRCm39)	V730E	probably damaging	Het
Agbl1	G	A	7: 76,069,814 (GRCm39)	D449N	not run	Het
Agr2	A	T	12: 36,047,452 (GRCm39)	E96V	probably benign	Het
Atp1a2	A	C	1: 172,114,862 (GRCm39)	S308A	probably benign	Het
Birc7	T	C	2: 180,571,150 (GRCm39)	S71P	possibly damaging	Het
Brme1	T	G	8: 84,893,981 (GRCm39)	S383A	probably benign	Het
Camk2g	T	C	14: 20,829,275 (GRCm39)	I73V	probably damaging	Het
Carf	C	A	1: 60,167,198 (GRCm39)	T177K	possibly damaging	Het
Ccdc191	C	T	16: 43,767,820 (GRCm39)	Q665*	probably null	Het
Ces5a	C	A	8: 94,262,369 (GRCm39)		probably benign	Het
Dkk2	C	A	3: 131,880,790 (GRCm39)	T145N	probably benign	Het
Dot1l	C	T	10: 80,609,007 (GRCm39)	A188V	probably damaging	Het
Egfr	T	A	11: 16,846,967 (GRCm39)	V788D	probably damaging	Het
Esyt3	T	A	9: 99,240,117 (GRCm39)	H109L	probably benign	Het
Fam234b	C	T	6: 135,188,899 (GRCm39)	T168I	probably benign	Het
Fan1	G	T	7: 63,998,714 (GRCm39)	S936Y	probably damaging	Het
Fat2	T	C	11: 55,194,745 (GRCm39)	E1098G	probably damaging	Het
Fcgbp	A	G	7: 27,806,710 (GRCm39)	D2226G	possibly damaging	Het
Flacc1	T	G	1: 58,730,911 (GRCm39)	E48D	possibly damaging	Het
Flvcr2	T	C	12: 85,793,831 (GRCm39)	V69A	probably benign	Het
Foxb2	T	A	19: 16,850,436 (GRCm39)	H190L	unknown	Het
Fut4	C	T	9: 14,662,602 (GRCm39)	V231M	possibly damaging	Het
Gtf2a1	G	A	12: 91,542,426 (GRCm39)	A91V	probably benign	Het
Hip1	A	G	5: 135,443,151 (GRCm39)	S961P	probably damaging	Het
Hsf2bp	C	T	17: 32,165,708 (GRCm39)	V296M	probably benign	Het
Hspbp1	G	T	7: 4,687,577 (GRCm39)	H11Q	probably benign	Het
Ighv1-84	C	T	12: 115,944,432 (GRCm39)	E81K	probably benign	Het
Isg20l2	T	C	3: 87,839,485 (GRCm39)	L232P	possibly damaging	Het
Isx	A	G	8: 75,619,392 (GRCm39)	Y181C	probably benign	Het
Kif9	A	G	9: 110,348,109 (GRCm39)	Y644C	probably damaging	Het
Lin7c	T	A	2: 109,727,682 (GRCm39)	V177D	probably benign	Het
Lpin3	T	C	2: 160,739,220 (GRCm39)	S343P	probably benign	Het
Mat1a	A	T	14: 40,842,141 (GRCm39)	Q246L	probably benign	Het
Mlkl	T	C	8: 112,060,162 (GRCm39)	I75V	probably benign	Het
Ndufa7	T	A	17: 34,057,140 (GRCm39)	S107T	probably damaging	Het
Niban3	T	A	8: 72,057,671 (GRCm39)	C516S	possibly damaging	Het
Nip7	T	A	8: 107,783,968 (GRCm39)	C69*	probably null	Het
Nipa2	A	T	7: 55,583,089 (GRCm39)	W219R	probably damaging	Het
Oas2	A	C	5: 120,887,775 (GRCm39)	S22A	unknown	Het
Obscn	A	G	11: 59,022,483 (GRCm39)	V754A	probably benign	Het
Or4a76	G	A	2: 89,461,012 (GRCm39)	P77S	probably damaging	Het
Osbpl1a	C	T	18: 13,066,642 (GRCm39)	C39Y	probably damaging	Het
Pcdhb16	A	T	18: 37,612,606 (GRCm39)	Y522F	probably benign	Het
Pced1a	T	G	2: 130,261,744 (GRCm39)	D303A	possibly damaging	Het
Peli1	T	A	11: 21,098,190 (GRCm39)	Y308*	probably null	Het
Pfas	T	A	11: 68,879,481 (GRCm39)	R243W		Het
Pik3r5	C	A	11: 68,383,416 (GRCm39)	Q412K	probably benign	Het
Pkd1l1	A	T	11: 8,852,428 (GRCm39)	I1135N		Het
Prune1	C	A	3: 95,189,021 (GRCm39)		probably benign	Het
Ptpn4	T	A	1: 119,587,564 (GRCm39)	K926N	probably damaging	Het
Ptpre	A	G	7: 135,269,329 (GRCm39)	N277S	probably benign	Het
Raver2	A	T	4: 100,964,410 (GRCm39)	D255V	possibly damaging	Het
Rgs20	A	G	1: 4,980,857 (GRCm39)	V187A	probably benign	Het
Rgs3	A	G	4: 62,543,391 (GRCm39)	E242G	probably benign	Het
Rims2	T	G	15: 39,381,235 (GRCm39)	S1055R	probably benign	Het
Rnf146	T	C	10: 29,223,640 (GRCm39)	D82G	probably benign	Het
Rpgrip1	A	G	14: 52,378,016 (GRCm39)	S455G	probably benign	Het
Samm50	T	C	15: 84,080,057 (GRCm39)		probably null	Het
Sh3bgr	A	G	16: 96,007,122 (GRCm39)	K31E	probably benign	Het
Slc39a8	T	C	3: 135,592,672 (GRCm39)	I449T	probably damaging	Het
Slc5a3	A	T	16: 91,875,905 (GRCm39)	Y654F	probably benign	Het
Spata1	T	A	3: 146,181,977 (GRCm39)	L264F	possibly damaging	Het
Spats2l	A	T	1: 57,838,512 (GRCm39)		probably benign	Het
Stard13	A	C	5: 150,971,064 (GRCm39)	S848A	probably damaging	Het
Stat2	A	G	10: 128,112,434 (GRCm39)	S25G	possibly damaging	Het
Tet2	C	T	3: 133,186,050 (GRCm39)	R1129Q	possibly damaging	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tmem266	T	C	9: 55,303,883 (GRCm39)	L3P	unknown	Het
Tns3	A	T	11: 8,442,793 (GRCm39)	D523E	probably benign	Het
Trim3	A	T	7: 105,267,015 (GRCm39)	S455T	probably damaging	Het
Trim31	T	C	17: 37,220,554 (GRCm39)	V490A	probably damaging	Het
Trmt11	A	C	10: 30,466,039 (GRCm39)	N168K	probably benign	Het
Trpc4	G	A	3: 54,198,653 (GRCm39)	V526M	probably damaging	Het
Ttn	C	A	2: 76,749,482 (GRCm39)	D3856Y	possibly damaging	Het
Tulp2	G	A	7: 45,169,227 (GRCm39)	D377N	probably damaging	Het
Ubl7	A	G	9: 57,821,875 (GRCm39)	T75A	probably damaging	Het
Ugt2b34	T	G	5: 87,049,134 (GRCm39)	D297A	possibly damaging	Het
Usp34	A	T	11: 23,314,458 (GRCm39)	H800L	possibly damaging	Het
Utp3	C	A	5: 88,703,412 (GRCm39)	L314M	probably damaging	Het
Zer1	A	G	2: 30,003,337 (GRCm39)	Y27H	probably damaging	Het

Other mutations in Cd79a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01545:Cd79a	APN	7	24,600,691 (GRCm39)	missense	probably benign	0.01
IGL03302:Cd79a	APN	7	24,598,759 (GRCm39)	missense	probably damaging	1.00
crab	UTSW	7	24,598,600 (GRCm39)	missense	probably damaging	1.00
elementary	UTSW	7	24,598,687 (GRCm39)	missense	probably damaging	1.00
holmes	UTSW	7	24,596,971 (GRCm39)	nonsense	probably null
R1692:Cd79a	UTSW	7	24,600,881 (GRCm39)	missense	probably damaging	1.00
R2038:Cd79a	UTSW	7	24,598,782 (GRCm39)	missense	probably benign	0.43
R5450:Cd79a	UTSW	7	24,598,687 (GRCm39)	missense	probably damaging	1.00
R6285:Cd79a	UTSW	7	24,598,772 (GRCm39)	missense	possibly damaging	0.58
R7420:Cd79a	UTSW	7	24,596,971 (GRCm39)	nonsense	probably null
R7751:Cd79a	UTSW	7	24,599,092 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGAGTCCCTGGGCTGTTTG -3'
(R):5'- TACAAGCCCCTGTGGTTCTTG -3'

Sequencing Primer
(F):5'- GCTGTTTGGGGAACATCAAAATAC -3'
(R):5'- CTTGTTTACTTCGGGGAAGAACAGC -3'

Posted On

2019-10-07