Incidental Mutation 'IGL03302:Cd79a'
ID416268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd79a
Ensembl Gene ENSMUSG00000003379
Gene NameCD79A antigen (immunoglobulin-associated alpha)
SynonymsCd79a, Ig alpha, Iga, Igalpha, Ig-alpha, Ly54, Ly-54, mb-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL03302
Quality Score
Status
Chromosome7
Chromosomal Location24897381-24902197 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 24899334 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 103 (V103M)
Ref Sequence ENSEMBL: ENSMUSP00000003469 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003469] [ENSMUST00000047873] [ENSMUST00000098683] [ENSMUST00000117796] [ENSMUST00000206028] [ENSMUST00000206508]
Predicted Effect probably damaging
Transcript: ENSMUST00000003469
AA Change: V103M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003469
Gene: ENSMUSG00000003379
AA Change: V103M

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,967,750 Y542F possibly damaging Het
Ankrd34b A T 13: 92,439,643 N461I possibly damaging Het
Ccl24 T C 5: 135,570,878 K93E probably benign Het
Ccr9 T A 9: 123,779,536 D94E probably damaging Het
Ces1e A G 8: 93,223,893 probably null Het
Cul9 T C 17: 46,526,640 E993G probably damaging Het
Cyp4a14 T C 4: 115,491,378 I330V probably benign Het
Cyp7a1 T C 4: 6,273,801 D35G probably benign Het
Dmpk C A 7: 19,086,486 probably benign Het
Gcnt1 G T 19: 17,329,183 R393S probably benign Het
Lctl C T 9: 64,134,848 probably benign Het
Mttp A T 3: 138,104,707 I664N possibly damaging Het
Myh1 C T 11: 67,211,502 A873V probably benign Het
Nedd9 A G 13: 41,338,854 V54A probably damaging Het
Olfr1306 A T 2: 111,912,822 V36E possibly damaging Het
Olfr401 T G 11: 74,121,633 C115G possibly damaging Het
Olfr449 G T 6: 42,838,003 E41* probably null Het
Pak6 A T 2: 118,693,303 E313V probably benign Het
Pla2g4a A G 1: 149,864,947 S402P probably benign Het
Polq T C 16: 37,071,772 M2012T probably damaging Het
Ppp1r12b A T 1: 134,838,050 probably benign Het
Rbp3 A G 14: 33,954,659 H188R probably damaging Het
Rps6ka2 C A 17: 7,299,388 Q682K possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Spag4 A G 2: 156,068,420 Q322R probably damaging Het
Spef2 T C 15: 9,676,380 T702A probably benign Het
Taf3 G T 2: 9,952,131 F408L probably damaging Het
Tead2 T G 7: 45,232,899 Y121D possibly damaging Het
Thegl T G 5: 77,054,576 S281R probably benign Het
Tmco5 A T 2: 116,892,279 T294S probably damaging Het
Trim37 A G 11: 87,147,001 E187G possibly damaging Het
Ubb T A 11: 62,552,417 L91Q probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Zan T C 5: 137,468,390 S402G possibly damaging Het
Zc3h7a T A 16: 11,141,710 H793L probably damaging Het
Zfhx4 C T 3: 5,403,713 T2977I possibly damaging Het
Other mutations in Cd79a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01545:Cd79a APN 7 24901266 missense probably benign 0.01
crab UTSW 7 24899175 missense probably damaging 1.00
elementary UTSW 7 24899262 missense probably damaging 1.00
holmes UTSW 7 24897546 nonsense probably null
R1692:Cd79a UTSW 7 24901456 missense probably damaging 1.00
R2038:Cd79a UTSW 7 24899357 missense probably benign 0.43
R5450:Cd79a UTSW 7 24899262 missense probably damaging 1.00
R6285:Cd79a UTSW 7 24899347 missense possibly damaging 0.58
R7420:Cd79a UTSW 7 24897546 nonsense probably null
R7459:Cd79a UTSW 7 24899142 missense possibly damaging 0.94
R7751:Cd79a UTSW 7 24899667 missense probably benign 0.05
Posted On2016-08-02