Incidental Mutation 'IGL03294:C8b'
ID 416003
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8b
Ensembl Gene ENSMUSG00000029656
Gene Name complement component 8, beta polypeptide
Synonyms 4930439B20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03294
Quality Score
Status
Chromosome 4
Chromosomal Location 104623514-104661745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 104637888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 120 (R120Q)
Ref Sequence ENSEMBL: ENSMUSP00000066940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031663] [ENSMUST00000065072]
AlphaFold Q8BH35
Predicted Effect probably benign
Transcript: ENSMUST00000031663
AA Change: R120Q

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: R120Q

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
AA Change: R120Q

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: R120Q

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,047,315 (GRCm39) M119L probably benign Het
Akap10 A T 11: 61,768,179 (GRCm39) V646D probably damaging Het
Aldh3a1 A G 11: 61,105,548 (GRCm39) Y218C probably damaging Het
Arfgef3 T A 10: 18,540,660 (GRCm39) L174F probably damaging Het
Arhgef6 T C X: 56,382,338 (GRCm39) K99E possibly damaging Het
Atp9a T C 2: 168,531,225 (GRCm39) K163E probably benign Het
Birc6 C T 17: 74,956,881 (GRCm39) A3605V probably benign Het
Ccr1l1 A C 9: 123,778,444 (GRCm39) M1R probably null Het
Clca3a2 A G 3: 144,803,530 (GRCm39) S105P probably damaging Het
Cntnap1 A G 11: 101,072,508 (GRCm39) T502A possibly damaging Het
Ddx10 C T 9: 53,028,452 (GRCm39) probably null Het
Dnah5 G A 15: 28,233,441 (GRCm39) probably null Het
Dock9 A T 14: 121,879,035 (GRCm39) probably benign Het
Gli2 A G 1: 118,765,166 (GRCm39) V995A probably benign Het
Gpr34 T C X: 13,505,788 (GRCm39) Y106H probably damaging Het
Kmt2a A T 9: 44,731,862 (GRCm39) probably benign Het
Lamc1 C A 1: 153,138,392 (GRCm39) R154L probably damaging Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Meioc A T 11: 102,571,495 (GRCm39) E943V probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Nav2 C T 7: 49,141,205 (GRCm39) R917* probably null Het
Or4f47 T C 2: 111,972,518 (GRCm39) I76T probably benign Het
Or7g32 T C 9: 19,389,285 (GRCm39) N87S possibly damaging Het
Pcsk9 T A 4: 106,303,967 (GRCm39) I506L probably benign Het
Phf14 T A 6: 11,953,366 (GRCm39) D368E probably damaging Het
Phka1 C A X: 101,580,819 (GRCm39) S964I probably damaging Het
Pikfyve G A 1: 65,286,226 (GRCm39) R1155Q probably damaging Het
Plin2 C T 4: 86,580,315 (GRCm39) V60M probably damaging Het
Ptpn9 A G 9: 56,934,671 (GRCm39) Q145R possibly damaging Het
Sap30 A G 8: 57,940,335 (GRCm39) I89T probably damaging Het
Sec61a2 T C 2: 5,881,276 (GRCm39) probably null Het
Slc34a2 A C 5: 53,221,340 (GRCm39) D262A probably benign Het
Slc6a3 G A 13: 73,705,300 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,400 (GRCm39) T63S probably benign Het
Tbx10 A T 19: 4,048,571 (GRCm39) probably benign Het
Tie1 A T 4: 118,337,420 (GRCm39) N501K probably damaging Het
Tmprss11f A T 5: 86,685,966 (GRCm39) Y134N probably damaging Het
Uevld A T 7: 46,580,778 (GRCm39) D361E possibly damaging Het
Ugt1a5 A C 1: 88,094,537 (GRCm39) D255A probably damaging Het
Vmn2r11 A G 5: 109,201,935 (GRCm39) F190L probably benign Het
Wfs1 G A 5: 37,132,941 (GRCm39) R113C probably damaging Het
Yipf5 T G 18: 40,339,449 (GRCm39) M206L probably benign Het
Zbtb10 A G 3: 9,346,047 (GRCm39) D847G probably benign Het
Zfp786 T A 6: 47,798,258 (GRCm39) K227* probably null Het
Other mutations in C8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00659:C8b APN 4 104,658,531 (GRCm39) splice site probably benign
IGL01145:C8b APN 4 104,637,777 (GRCm39) missense probably benign 0.25
IGL01768:C8b APN 4 104,644,151 (GRCm39) missense probably benign 0.00
IGL02347:C8b APN 4 104,644,151 (GRCm39) missense probably benign 0.00
IGL02488:C8b APN 4 104,661,278 (GRCm39) missense probably benign
IGL02957:C8b APN 4 104,623,652 (GRCm39) missense probably benign
IGL02979:C8b APN 4 104,631,585 (GRCm39) missense probably damaging 0.99
IGL02995:C8b APN 4 104,658,525 (GRCm39) splice site probably benign
R0568:C8b UTSW 4 104,650,577 (GRCm39) missense probably benign 0.39
R1015:C8b UTSW 4 104,644,157 (GRCm39) missense probably benign 0.19
R1191:C8b UTSW 4 104,650,520 (GRCm39) missense probably damaging 1.00
R1401:C8b UTSW 4 104,641,679 (GRCm39) missense possibly damaging 0.72
R3824:C8b UTSW 4 104,640,206 (GRCm39) missense probably benign 0.42
R4611:C8b UTSW 4 104,647,841 (GRCm39) missense probably damaging 0.98
R4756:C8b UTSW 4 104,644,083 (GRCm39) missense probably benign
R4845:C8b UTSW 4 104,649,009 (GRCm39) missense possibly damaging 0.87
R5355:C8b UTSW 4 104,637,860 (GRCm39) missense probably benign 0.01
R5436:C8b UTSW 4 104,657,546 (GRCm39) nonsense probably null
R5561:C8b UTSW 4 104,641,645 (GRCm39) missense possibly damaging 0.89
R5967:C8b UTSW 4 104,650,530 (GRCm39) missense possibly damaging 0.79
R6744:C8b UTSW 4 104,631,543 (GRCm39) missense probably damaging 1.00
R6899:C8b UTSW 4 104,644,071 (GRCm39) missense probably benign 0.02
R6977:C8b UTSW 4 104,644,193 (GRCm39) missense possibly damaging 0.82
R7088:C8b UTSW 4 104,650,540 (GRCm39) missense probably benign 0.12
R7224:C8b UTSW 4 104,637,795 (GRCm39) missense probably damaging 1.00
R7278:C8b UTSW 4 104,637,824 (GRCm39) missense probably damaging 1.00
R8058:C8b UTSW 4 104,647,811 (GRCm39) missense probably damaging 0.96
R8437:C8b UTSW 4 104,644,040 (GRCm39) missense probably damaging 1.00
R8821:C8b UTSW 4 104,647,874 (GRCm39) missense probably damaging 1.00
R8831:C8b UTSW 4 104,647,874 (GRCm39) missense probably damaging 1.00
R9139:C8b UTSW 4 104,641,631 (GRCm39) missense probably damaging 1.00
R9237:C8b UTSW 4 104,650,481 (GRCm39) missense probably benign 0.00
R9294:C8b UTSW 4 104,644,192 (GRCm39) missense probably benign 0.04
R9789:C8b UTSW 4 104,640,191 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02