Incidental Mutation 'IGL01843:C8a'
ID178100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8a
Ensembl Gene ENSMUSG00000035031
Gene Namecomplement component 8, alpha polypeptide
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.030) question?
Stock #IGL01843
Quality Score
Status
Chromosome4
Chromosomal Location104815679-104876398 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 104862611 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 57 (Q57*)
Ref Sequence ENSEMBL: ENSMUSP00000102420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048947] [ENSMUST00000064873] [ENSMUST00000106808] [ENSMUST00000179793]
Predicted Effect probably null
Transcript: ENSMUST00000048947
AA Change: Q101*
SMART Domains Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: Q101*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TSP1 41 91 1.33e-1 SMART
LDLa 95 132 2.07e-11 SMART
MACPF 288 492 5.26e-58 SMART
Blast:EGF 496 529 3e-13 BLAST
Blast:TSP1 545 573 3e-12 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000064873
AA Change: Q101*
SMART Domains Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: Q101*

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
TSP1 41 91 1.33e-1 SMART
LDLa 95 132 2.07e-11 SMART
MACPF 288 492 5.26e-58 SMART
Blast:EGF 496 529 4e-13 BLAST
TSP1 545 587 1.86e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106808
AA Change: Q57*
SMART Domains Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: Q57*

DomainStartEndE-ValueType
Blast:TSP1 4 47 3e-15 BLAST
LDLa 51 88 2.07e-11 SMART
MACPF 244 448 5.26e-58 SMART
Blast:EGF 452 485 4e-13 BLAST
Blast:TSP1 501 543 3e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000179793
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha 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 alpha subunit, which associates with the beta 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 beta subunit. [provided by RefSeq, Oct 2015]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 C T 6: 128,553,338 probably benign Het
Ap1b1 T C 11: 5,039,169 L782P probably damaging Het
Arid1a T C 4: 133,681,454 D1914G unknown Het
Cachd1 T C 4: 100,992,872 S1144P probably damaging Het
Cdh23 A T 10: 60,419,819 probably null Het
Cenpe A G 3: 135,218,507 Q198R possibly damaging Het
Cpne8 T C 15: 90,569,497 I228V probably benign Het
Cr2 A T 1: 195,150,914 probably benign Het
Csmd3 T C 15: 47,658,999 probably benign Het
Cyp2c23 A G 19: 44,005,607 V440A probably benign Het
Dag1 T C 9: 108,208,082 D620G possibly damaging Het
Dmxl1 T A 18: 49,878,382 L1202* probably null Het
Dnah3 T G 7: 119,943,575 H3538P probably benign Het
Dock8 A T 19: 25,089,928 Q312L probably benign Het
E2f7 T G 10: 110,774,735 V407G probably benign Het
F13b T C 1: 139,516,427 S500P probably damaging Het
F5 A G 1: 164,211,826 I2002V probably benign Het
Flywch1 T A 17: 23,760,345 M439L possibly damaging Het
Gcn1l1 C A 5: 115,619,700 A2488E probably damaging Het
Gria1 T C 11: 57,317,774 S832P probably damaging Het
Hnrnpr T C 4: 136,339,413 probably benign Het
Hps3 A G 3: 20,029,001 I177T probably benign Het
Irgm2 G A 11: 58,220,341 G298D probably benign Het
Kcnk7 G A 19: 5,706,202 G152D probably damaging Het
Man2a2 T C 7: 80,362,906 T620A probably benign Het
Mapk12 A G 15: 89,137,466 probably benign Het
Mapk6 T C 9: 75,390,290 Y315C probably damaging Het
Mdga2 T A 12: 66,723,131 probably null Het
Met T A 6: 17,491,701 I154N probably damaging Het
Nap1l1 A G 10: 111,492,911 R234G possibly damaging Het
Olfm5 C A 7: 104,160,744 V137F possibly damaging Het
Olfr1423 G T 19: 12,036,677 H22N probably benign Het
Pcdha11 C T 18: 37,012,833 T659I probably benign Het
Pfkm T C 15: 98,129,306 V620A possibly damaging Het
Rbak A G 5: 143,176,600 probably benign Het
Rbl2 A G 8: 91,090,216 I401M probably benign Het
Rragc T C 4: 123,921,059 S183P probably damaging Het
Sept3 A G 15: 82,279,613 probably benign Het
Skiv2l2 T C 13: 112,918,561 probably benign Het
Slc22a6 A T 19: 8,626,214 probably benign Het
Spag4 A T 2: 156,068,497 T348S probably benign Het
Sptbn1 T C 11: 30,104,623 R2157G probably benign Het
Tmem168 G A 6: 13,582,941 T263M probably damaging Het
Tnik T A 3: 28,570,858 probably null Het
Tnpo2 T A 8: 85,050,508 V549E probably damaging Het
Ttll7 A C 3: 146,940,021 K545Q possibly damaging Het
Tubgcp5 T G 7: 55,799,473 D139E probably benign Het
Vmn1r233 T A 17: 20,994,599 N30Y probably damaging Het
Vmn2r25 T G 6: 123,853,003 D63A possibly damaging Het
Vmn2r79 T A 7: 87,037,277 L622Q probably damaging Het
Vmn2r84 T C 10: 130,386,279 M691V probably benign Het
Zc3hc1 A T 6: 30,372,730 probably benign Het
Other mutations in C8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:C8a APN 4 104865445 intron probably benign
IGL01326:C8a APN 4 104856420 missense probably damaging 1.00
IGL01339:C8a APN 4 104827985 missense probably benign 0.00
IGL01809:C8a APN 4 104845942 missense probably benign 0.06
IGL01988:C8a APN 4 104826694 missense probably damaging 1.00
IGL02187:C8a APN 4 104862736 missense probably damaging 1.00
IGL02430:C8a APN 4 104817522 missense probably damaging 0.97
IGL02537:C8a APN 4 104845951 missense probably damaging 1.00
R0045:C8a UTSW 4 104826815 missense probably benign 0.00
R0045:C8a UTSW 4 104826815 missense probably benign 0.00
R0367:C8a UTSW 4 104862594 critical splice donor site probably null
R0632:C8a UTSW 4 104856492 missense probably damaging 1.00
R1013:C8a UTSW 4 104828039 missense probably benign 0.00
R1442:C8a UTSW 4 104828078 missense possibly damaging 0.50
R1902:C8a UTSW 4 104856601 critical splice acceptor site probably null
R2969:C8a UTSW 4 104853777 missense probably damaging 0.97
R3735:C8a UTSW 4 104817615 missense probably benign 0.43
R3736:C8a UTSW 4 104817615 missense probably benign 0.43
R4245:C8a UTSW 4 104876346 missense probably benign 0.00
R4707:C8a UTSW 4 104856421 missense probably damaging 1.00
R4812:C8a UTSW 4 104862591 splice site probably null
R5221:C8a UTSW 4 104845925 missense probably damaging 1.00
R5279:C8a UTSW 4 104845988 missense probably damaging 1.00
R5461:C8a UTSW 4 104815845 utr 3 prime probably benign
R5881:C8a UTSW 4 104853932 missense probably damaging 0.99
R6039:C8a UTSW 4 104845942 missense probably benign 0.00
R6039:C8a UTSW 4 104845942 missense probably benign 0.00
R6191:C8a UTSW 4 104845903 missense probably benign 0.00
R6626:C8a UTSW 4 104845967 missense probably benign 0.01
X0012:C8a UTSW 4 104826782 missense probably damaging 1.00
X0019:C8a UTSW 4 104817586 missense probably damaging 1.00
Posted On2014-05-07