Incidental Mutation 'IGL01326:C8a'
ID 74277
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 # IGL01326
Quality Score
Status
Chromosome 4
Chromosomal Location 104672876-104733595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104713617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 171 (Y171C)
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: Y215C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: Y215C

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: Y215C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: Y215C

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: Y171C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: Y171C

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 noncoding transcript
Transcript: ENSMUST00000152146
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Olfm1 T C 2: 28,119,564 (GRCm39) Y385H probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in C8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:C8a APN 4 104,722,642 (GRCm39) intron probably benign
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
IGL02187:C8a APN 4 104,719,933 (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 2013-10-07