Incidental Mutation 'IGL01326:C8a'
ID74277
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? Non essential (E-score: 0.000) question?
Stock #IGL01326
Quality Score
Status
Chromosome4
Chromosomal Location104815679-104876398 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104856420 bp
ZygosityHeterozygous
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]
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: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in C8a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:C8a APN 4 104865445 intron probably benign
IGL01339:C8a APN 4 104827985 missense probably benign 0.00
IGL01809:C8a APN 4 104845942 missense probably benign 0.06
IGL01843:C8a APN 4 104862611 nonsense probably null
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
derogation UTSW 4 104828078 missense possibly damaging 0.50
insult UTSW 4 104828039 missense probably benign 0.00
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
R7438:C8a UTSW 4 104861429 missense probably damaging 0.97
R7471:C8a UTSW 4 104817625 missense probably benign 0.01
R7514:C8a UTSW 4 104846050 missense possibly damaging 0.94
R7596:C8a UTSW 4 104853867 missense possibly damaging 0.49
R8947:C8a UTSW 4 104822129 missense probably damaging 1.00
X0012:C8a UTSW 4 104826782 missense probably damaging 1.00
X0019:C8a UTSW 4 104817586 missense probably damaging 1.00
Z1176:C8a UTSW 4 104862686 missense probably damaging 1.00
Posted On2013-10-07