Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01545:Cd79a'

90300

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL01545

Quality Score

Status

Chromosome

Chromosomal Location

24596922-24601283 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24600691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 172 (M172L)

Ref Sequence

ENSEMBL: ENSMUSP00000003469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003469] [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117419] [ENSMUST00000117796] [ENSMUST00000205295] [ENSMUST00000206906] [ENSMUST00000206011] [ENSMUST00000206028] [ENSMUST00000206508]

AlphaFold

P11911

Predicted Effect

probably benign
Transcript: ENSMUST00000003469
AA Change: M172L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000003469
Gene: ENSMUSG00000003379
AA Change: M172L

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: ENSMUST00000117419

SMART Domains

Protein: ENSMUSP00000113366
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: 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

noncoding transcript
Transcript: ENSMUST00000127761

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129383

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145783

Predicted Effect

probably benign
Transcript: ENSMUST00000205295

Predicted Effect

probably benign
Transcript: ENSMUST00000206906

Predicted Effect

probably benign
Transcript: ENSMUST00000206011

Predicted Effect

probably benign
Transcript: ENSMUST00000206028

Predicted Effect

probably benign
Transcript: ENSMUST00000206508

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	G	A	11: 30,376,228 (GRCm39)	S213L	probably benign	Het
Adgrv1	A	G	13: 81,614,303 (GRCm39)	I4030T	possibly damaging	Het
Ap4b1	G	A	3: 103,720,143 (GRCm39)	R55H	probably benign	Het
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Atp6v1h	T	A	1: 5,159,282 (GRCm39)	M55K	probably benign	Het
B3galt4	A	C	17: 34,170,187 (GRCm39)	V17G	probably benign	Het
Cry1	A	T	10: 85,020,226 (GRCm39)	L37H	possibly damaging	Het
D5Ertd615e	A	T	5: 45,326,755 (GRCm39)		noncoding transcript	Het
Dnah17	A	T	11: 118,010,394 (GRCm39)	L308Q	probably damaging	Het
Dnah7a	C	T	1: 53,557,941 (GRCm39)	A2158T	probably benign	Het
Dusp2	A	G	2: 127,179,695 (GRCm39)	T313A	probably benign	Het
Fam110c	T	C	12: 31,124,982 (GRCm39)	S315P	probably damaging	Het
Fcer2a	G	A	8: 3,733,598 (GRCm39)	R198*	probably null	Het
Fryl	G	A	5: 73,211,940 (GRCm39)	T2359M	probably damaging	Het
Gm14221	G	A	2: 160,410,303 (GRCm39)		noncoding transcript	Het
Gpc6	T	G	14: 118,202,242 (GRCm39)	L484R	probably damaging	Het
Igdcc3	G	A	9: 65,087,355 (GRCm39)	V298M	probably damaging	Het
Impg2	T	A	16: 56,046,080 (GRCm39)		probably benign	Het
Iqca1	T	A	1: 89,973,364 (GRCm39)	M803L	probably benign	Het
Itga4	T	C	2: 79,146,314 (GRCm39)		probably benign	Het
Katnip	A	G	7: 125,352,143 (GRCm39)		probably null	Het
Kidins220	T	C	12: 25,090,459 (GRCm39)	F1141S	possibly damaging	Het
Kif7	A	G	7: 79,352,026 (GRCm39)	I912T	probably damaging	Het
Klhl38	G	A	15: 58,185,854 (GRCm39)	R292W	probably damaging	Het
Lama3	A	G	18: 12,574,188 (GRCm39)	D590G	probably benign	Het
Map4k4	T	C	1: 40,053,389 (GRCm39)		probably benign	Het
Mbd4	A	T	6: 115,827,758 (GRCm39)	D39E	probably damaging	Het
Mrm2	A	G	5: 140,317,010 (GRCm39)	V8A	probably benign	Het
Myod1	A	T	7: 46,026,539 (GRCm39)	E148V	probably damaging	Het
Or5d47	A	C	2: 87,804,895 (GRCm39)	I38S	probably benign	Het
Pdcd10	A	T	3: 75,448,475 (GRCm39)	F30I	possibly damaging	Het
Ptcd1	T	A	5: 145,096,346 (GRCm39)	H249L	probably damaging	Het
Ptcd3	A	T	6: 71,865,561 (GRCm39)	D451E	probably benign	Het
Rab44	C	A	17: 29,366,351 (GRCm39)	S680R	unknown	Het
Rad21l	A	T	2: 151,497,084 (GRCm39)	D340E	probably benign	Het
Ranbp2	T	C	10: 58,314,703 (GRCm39)	F1808L	possibly damaging	Het
Rnf122	T	C	8: 31,618,630 (GRCm39)	V126A	probably damaging	Het
Slc25a47	G	T	12: 108,820,142 (GRCm39)	V49L	probably benign	Het
Slc36a2	T	C	11: 55,075,633 (GRCm39)		probably null	Het
Sorl1	G	A	9: 41,955,252 (GRCm39)	R668W	probably damaging	Het
Tbx19	T	A	1: 164,966,725 (GRCm39)	N383I	possibly damaging	Het
Tenm4	A	G	7: 96,523,510 (GRCm39)	H1676R	probably benign	Het
Tgm5	G	T	2: 120,883,289 (GRCm39)	R351S	probably damaging	Het
Tmem106b	A	G	6: 13,071,842 (GRCm39)	S34G	probably benign	Het
Trmo	C	T	4: 46,386,169 (GRCm39)	G119R	probably damaging	Het
Ubr4	G	A	4: 139,170,140 (GRCm39)		probably benign	Het
Wfdc11	A	G	2: 164,507,365 (GRCm39)		probably null	Het
Xrn2	T	A	2: 146,880,099 (GRCm39)	I474K	probably benign	Het
Zfp827	A	G	8: 79,797,063 (GRCm39)	K383R	probably damaging	Het

Other mutations in Cd79a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7459:Cd79a	UTSW	7	24,598,567 (GRCm39)	missense	possibly damaging	0.94
R7751:Cd79a	UTSW	7	24,599,092 (GRCm39)	missense	probably benign	0.05

Posted On

2013-12-03