Incidental Mutation 'R2969:C8a'
ID 256052
Institutional Source Beutler Lab
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 # R2969 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 104672876-104733595 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 104710974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 230 (S230P)
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: S274P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047606
Gene: ENSMUSG00000035031
AA Change: S274P

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: S274P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067541
Gene: ENSMUSG00000035031
AA Change: S274P

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: S230P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102420
Gene: ENSMUSG00000035031
AA Change: S230P

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 A G 10: 69,830,225 (GRCm39) T137A probably damaging Het
Antxr2 A T 5: 98,178,275 (GRCm39) L45* probably null Het
Armc1 T C 3: 19,189,024 (GRCm39) S214G probably benign Het
Arsj T C 3: 126,233,021 (GRCm39) I589T probably benign Het
Cnga3 A G 1: 37,300,159 (GRCm39) Y331C probably damaging Het
Gm21976 A G 13: 98,423,790 (GRCm39) Y33C unknown Het
Gpat4 G A 8: 23,670,171 (GRCm39) P286L probably damaging Het
Gtf2i A G 5: 134,280,746 (GRCm39) V556A probably damaging Het
Ighv8-12 C T 12: 115,611,570 (GRCm39) R118Q probably benign Het
Ing4 A G 6: 125,024,288 (GRCm39) K131E probably benign Het
Mrgprb5 T A 7: 47,818,317 (GRCm39) R139S probably damaging Het
Nap1l2 A T X: 102,229,254 (GRCm39) D221E probably benign Het
Nepn A T 10: 52,276,983 (GRCm39) R179* probably null Het
Nrxn3 G A 12: 89,321,241 (GRCm39) C383Y probably damaging Het
Pfpl G T 19: 12,406,907 (GRCm39) R386L probably benign Het
Rere A G 4: 150,654,673 (GRCm39) K402E unknown Het
Serpina3n C T 12: 104,375,333 (GRCm39) T135M probably benign Het
Slc43a1 C T 2: 84,687,679 (GRCm39) T395I probably damaging Het
Tmem59l A G 8: 70,939,951 (GRCm39) L6S unknown Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn1r128 T A 7: 21,084,046 (GRCm39) V250D 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
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
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
Predicted Primers PCR Primer
(F):5'- TCACCACTGATCAGACGTTTC -3'
(R):5'- CTGACGGCACACATGAGTTAAG -3'

Sequencing Primer
(F):5'- CTGATCAGACGTTTCCAATTACAC -3'
(R):5'- GGGCACAAAGCTAACATCTAGTTTTC -3'
Posted On 2014-12-29