Incidental Mutation 'IGL02187:C8a'
ID 283697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8a
Ensembl Gene ENSMUSG00000035031
Gene Name complement component 8, alpha polypeptide
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02187
Quality Score
Status
Chromosome 4
Chromosomal Location 104672876-104733595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 104719933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 15 (R15L)
Ref Sequence ENSEMBL: ENSMUSP00000102420 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048947] [ENSMUST00000064873] [ENSMUST00000106808] [ENSMUST00000179793]
AlphaFold Q8K182
Predicted Effect probably damaging
Transcript: ENSMUST00000048947
AA Change: R59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: R59L

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 damaging
Transcript: ENSMUST00000064873
AA Change: R59L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: R59L

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 damaging
Transcript: ENSMUST00000106808
AA Change: R15L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: R15L

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 C A 8: 114,439,826 (GRCm39) E922D possibly damaging Het
Asxl3 T A 18: 22,658,035 (GRCm39) M2015K probably damaging Het
Catsperg2 A G 7: 29,420,791 (GRCm39) V47A probably benign Het
Cdhr2 C T 13: 54,881,523 (GRCm39) T1081I possibly damaging Het
Cenatac C T 9: 44,322,084 (GRCm39) probably benign Het
Cep85 T A 4: 133,858,616 (GRCm39) M752L possibly damaging Het
Cxcr3 T A X: 100,776,483 (GRCm39) S60C probably damaging Het
Cyp24a1 T A 2: 170,336,013 (GRCm39) N208I probably damaging Het
Cyp2c38 A G 19: 39,424,649 (GRCm39) I223T probably benign Het
Dennd6a A G 14: 26,328,081 (GRCm39) I35V probably benign Het
Emb T G 13: 117,405,507 (GRCm39) probably benign Het
Fbxo3 T C 2: 103,858,295 (GRCm39) Y30H probably damaging Het
Fnbp1l G A 3: 122,362,449 (GRCm39) R120* probably null Het
Galnt2 T C 8: 125,032,245 (GRCm39) probably benign Het
Gckr T C 5: 31,464,768 (GRCm39) probably benign Het
Gpr101 A G X: 56,546,841 (GRCm39) F103S probably damaging Het
Gprasp1 T A X: 134,699,912 (GRCm39) V35E probably damaging Het
Ift80 C A 3: 68,892,789 (GRCm39) W133L probably damaging Het
Impdh1 C A 6: 29,207,086 (GRCm39) probably benign Het
Ino80 T C 2: 119,275,938 (GRCm39) probably benign Het
Kansl1 A T 11: 104,269,657 (GRCm39) probably null Het
Klhl20 C T 1: 160,937,280 (GRCm39) V32I probably benign Het
Lrfn3 A G 7: 30,055,389 (GRCm39) S519P probably damaging Het
Mrpl51 A G 6: 125,170,294 (GRCm39) N100S probably benign Het
Mybpc3 T C 2: 90,965,797 (GRCm39) I1203T probably benign Het
Nbr1 A G 11: 101,460,185 (GRCm39) I394V possibly damaging Het
Nfasc G A 1: 132,498,219 (GRCm39) T1155M probably damaging Het
Or7g34 T A 9: 19,478,393 (GRCm39) T96S probably benign Het
Pan3 T C 5: 147,463,398 (GRCm39) I440T probably benign Het
Patz1 T C 11: 3,241,134 (GRCm39) L174P probably damaging Het
Paxx A G 2: 25,350,668 (GRCm39) L62P probably damaging Het
Plekhh1 T C 12: 79,119,592 (GRCm39) S972P probably damaging Het
Ppp1r13b G T 12: 111,801,472 (GRCm39) T404K probably damaging Het
Prkaa2 T C 4: 104,904,363 (GRCm39) N238S probably benign Het
Prpf6 T C 2: 181,257,809 (GRCm39) Y94H probably damaging Het
Rtn4 T C 11: 29,658,291 (GRCm39) I815T possibly damaging Het
Slc44a5 A G 3: 153,968,554 (GRCm39) T582A probably benign Het
Slitrk3 A G 3: 72,957,605 (GRCm39) L389S probably damaging Het
Srp54b T A 12: 55,299,560 (GRCm39) M297K probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Zmym4 T A 4: 126,764,066 (GRCm39) I1325L probably damaging Het
Zswim2 C A 2: 83,753,982 (GRCm39) R226L probably damaging Het
Other mutations in C8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:C8a APN 4 104,722,642 (GRCm39) intron probably benign
IGL01326:C8a APN 4 104,713,617 (GRCm39) missense probably damaging 1.00
IGL01339:C8a APN 4 104,685,182 (GRCm39) missense probably benign 0.00
IGL01809:C8a APN 4 104,703,139 (GRCm39) missense probably benign 0.06
IGL01843:C8a APN 4 104,719,808 (GRCm39) nonsense probably null
IGL01988:C8a APN 4 104,683,891 (GRCm39) missense probably damaging 1.00
IGL02430:C8a APN 4 104,674,719 (GRCm39) missense probably damaging 0.97
IGL02537:C8a APN 4 104,703,148 (GRCm39) missense probably damaging 1.00
derogation UTSW 4 104,685,275 (GRCm39) missense possibly damaging 0.50
insult UTSW 4 104,685,236 (GRCm39) missense probably benign 0.00
R0045:C8a UTSW 4 104,684,012 (GRCm39) missense probably benign 0.00
R0045:C8a UTSW 4 104,684,012 (GRCm39) missense probably benign 0.00
R0367:C8a UTSW 4 104,719,791 (GRCm39) critical splice donor site probably null
R0632:C8a UTSW 4 104,713,689 (GRCm39) missense probably damaging 1.00
R1013:C8a UTSW 4 104,685,236 (GRCm39) missense probably benign 0.00
R1442:C8a UTSW 4 104,685,275 (GRCm39) missense possibly damaging 0.50
R1902:C8a UTSW 4 104,713,798 (GRCm39) critical splice acceptor site probably null
R2969:C8a UTSW 4 104,710,974 (GRCm39) missense probably damaging 0.97
R3735:C8a UTSW 4 104,674,812 (GRCm39) missense probably benign 0.43
R3736:C8a UTSW 4 104,674,812 (GRCm39) missense probably benign 0.43
R4245:C8a UTSW 4 104,733,543 (GRCm39) missense probably benign 0.00
R4707:C8a UTSW 4 104,713,618 (GRCm39) missense probably damaging 1.00
R4812:C8a UTSW 4 104,719,788 (GRCm39) splice site probably null
R5221:C8a UTSW 4 104,703,122 (GRCm39) missense probably damaging 1.00
R5279:C8a UTSW 4 104,703,185 (GRCm39) missense probably damaging 1.00
R5461:C8a UTSW 4 104,673,042 (GRCm39) utr 3 prime probably benign
R5881:C8a UTSW 4 104,711,129 (GRCm39) missense probably damaging 0.99
R6039:C8a UTSW 4 104,703,139 (GRCm39) missense probably benign 0.00
R6039:C8a UTSW 4 104,703,139 (GRCm39) missense probably benign 0.00
R6191:C8a UTSW 4 104,703,100 (GRCm39) missense probably benign 0.00
R6626:C8a UTSW 4 104,703,164 (GRCm39) missense probably benign 0.01
R7438:C8a UTSW 4 104,718,626 (GRCm39) missense probably damaging 0.97
R7471:C8a UTSW 4 104,674,822 (GRCm39) missense probably benign 0.01
R7514:C8a UTSW 4 104,703,247 (GRCm39) missense possibly damaging 0.94
R7596:C8a UTSW 4 104,711,064 (GRCm39) missense possibly damaging 0.49
R8947:C8a UTSW 4 104,679,326 (GRCm39) missense probably damaging 1.00
R9039:C8a UTSW 4 104,679,200 (GRCm39) missense probably benign
R9248:C8a UTSW 4 104,703,199 (GRCm39) missense probably damaging 1.00
X0012:C8a UTSW 4 104,683,979 (GRCm39) missense probably damaging 1.00
X0019:C8a UTSW 4 104,674,783 (GRCm39) missense probably damaging 1.00
Z1176:C8a UTSW 4 104,719,883 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16