Incidental Mutation 'IGL02488:C8b'
ID 295519
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 # IGL02488
Quality Score
Status
Chromosome 4
Chromosomal Location 104623514-104661745 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104661278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 498 (H498R)
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: H564R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031663
Gene: ENSMUSG00000029656
AA Change: H564R

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: H498R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000066940
Gene: ENSMUSG00000029656
AA Change: H498R

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging 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
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
IGL03294:C8b APN 4 104,637,888 (GRCm39) missense probably benign 0.06
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 2015-04-16