Incidental Mutation 'IGL02995:C8b'
ID407115
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8b
Ensembl Gene ENSMUSG00000029656
Gene Namecomplement component 8, beta polypeptide
Synonyms4930439B20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02995
Quality Score
Status
Chromosome4
Chromosomal Location104766317-104804548 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 104801328 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000066940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031663] [ENSMUST00000065072]
Predicted Effect probably benign
Transcript: ENSMUST00000031663
SMART Domains Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSP1 66 116 3.17e-7 SMART
LDLa 120 156 1.78e-10 SMART
MACPF 290 497 3.6e-65 SMART
Blast:EGF 501 534 9e-12 BLAST
TSP1 547 584 1.17e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065072
SMART Domains Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSP1 66 116 3.17e-7 SMART
LDLa 120 156 1.78e-10 SMART
MACPF 224 431 3.6e-65 SMART
Blast:EGF 435 468 1e-11 BLAST
TSP1 481 518 1.17e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123892
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of complement component C8 that participates in the assembly of the complement membrane attack complex. The encoded preproprotein undergoes proteolytic processing to generate the beta subunit, which associates with the alpha and gamma subunits to form a trimeric complement component, C8. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. This gene is located adjacent to the gene encoding the alpha subunit. [provided by RefSeq, Oct 2015]
PHENOTYPE: In a controlled microbial environment ("clean") laboratory, mice homozygous for an inactivating mutation of this gene are viable and fertile and exhibit no apparent abonormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,163,288 V175A probably benign Het
Adam19 G A 11: 46,136,349 R603Q probably benign Het
Adam25 T C 8: 40,753,723 S9P probably benign Het
Akr1e1 T A 13: 4,597,478 probably benign Het
Ano8 C T 8: 71,483,117 V286I possibly damaging Het
Baz1a C T 12: 54,900,447 R1139H probably damaging Het
Brca2 T A 5: 150,529,488 L29H probably damaging Het
Btaf1 T C 19: 36,981,135 probably benign Het
Cep295 A T 9: 15,333,312 S1283T probably damaging Het
Cyp1a2 T C 9: 57,677,228 *514W probably null Het
D2hgdh G T 1: 93,829,836 D158Y probably damaging Het
Dennd1b G A 1: 139,081,242 V228M probably damaging Het
Fgd6 T A 10: 94,045,480 L732* probably null Het
Gm21969 G A 4: 139,607,698 G348S probably benign Het
Gprc6a C T 10: 51,626,799 V323M probably damaging Het
Gzme T A 14: 56,118,709 M111L probably damaging Het
Iars2 G T 1: 185,303,301 Q581K probably benign Het
Klra17 A T 6: 129,868,684 probably null Het
Klra5 A T 6: 129,906,614 D93E possibly damaging Het
Lats2 T C 14: 57,700,348 Y228C probably damaging Het
Lrrn3 T C 12: 41,452,217 I700M probably damaging Het
Ltb A T 17: 35,195,372 probably benign Het
Myo18b T C 5: 112,775,413 probably benign Het
Olfr103 A T 17: 37,336,709 H174Q probably damaging Het
Olfr323 A G 11: 58,625,281 M255T possibly damaging Het
Olfr346 C T 2: 36,688,632 P210L possibly damaging Het
Olfr395 G A 11: 73,907,219 T91M possibly damaging Het
Olfr518 T A 7: 108,880,991 E205V probably damaging Het
Pgap1 A C 1: 54,493,350 I670S probably benign Het
Plxna4 A T 6: 32,516,595 I362N probably damaging Het
Ppef2 C T 5: 92,235,900 W450* probably null Het
Prr27 T C 5: 87,842,816 S96P probably benign Het
Psip1 T A 4: 83,463,717 probably benign Het
Rgs3 T A 4: 62,625,847 H285Q possibly damaging Het
Ror1 T C 4: 100,334,525 probably benign Het
Rps6ka5 C A 12: 100,573,999 probably benign Het
Sipa1l1 T A 12: 82,357,331 Y533N probably benign Het
Snx6 T C 12: 54,795,510 probably benign Het
Tbc1d9 T A 8: 83,269,059 probably null Het
Tek T C 4: 94,739,640 probably benign Het
Tor2a T A 2: 32,761,497 H241Q possibly damaging Het
Wnt5a A T 14: 28,522,914 I353F probably benign Het
Other mutations in C8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:C8b APN 4 104801334 splice site probably benign
IGL01145:C8b APN 4 104780580 missense probably benign 0.25
IGL01768:C8b APN 4 104786954 missense probably benign 0.00
IGL02347:C8b APN 4 104786954 missense probably benign 0.00
IGL02488:C8b APN 4 104804081 missense probably benign
IGL02957:C8b APN 4 104766455 missense probably benign
IGL02979:C8b APN 4 104774388 missense probably damaging 0.99
IGL03294:C8b APN 4 104780691 missense probably benign 0.06
R0568:C8b UTSW 4 104793380 missense probably benign 0.39
R1015:C8b UTSW 4 104786960 missense probably benign 0.19
R1191:C8b UTSW 4 104793323 missense probably damaging 1.00
R1401:C8b UTSW 4 104784482 missense possibly damaging 0.72
R3824:C8b UTSW 4 104783009 missense probably benign 0.42
R4611:C8b UTSW 4 104790644 missense probably damaging 0.98
R4756:C8b UTSW 4 104786886 missense probably benign
R4845:C8b UTSW 4 104791812 missense possibly damaging 0.87
R5355:C8b UTSW 4 104780663 missense probably benign 0.01
R5436:C8b UTSW 4 104800349 nonsense probably null
R5561:C8b UTSW 4 104784448 missense possibly damaging 0.89
R5967:C8b UTSW 4 104793333 missense possibly damaging 0.79
R6744:C8b UTSW 4 104774346 missense probably damaging 1.00
R6899:C8b UTSW 4 104786874 missense probably benign 0.02
R6977:C8b UTSW 4 104786996 missense possibly damaging 0.82
R7088:C8b UTSW 4 104793343 missense probably benign 0.12
R7224:C8b UTSW 4 104780598 missense probably damaging 1.00
R7278:C8b UTSW 4 104780627 missense probably damaging 1.00
R8058:C8b UTSW 4 104790614 missense probably damaging 0.96
Posted On2016-08-02