Incidental Mutation 'R9601:C8g'
ID 726329
Institutional Source Beutler Lab
Gene Symbol C8g
Ensembl Gene ENSMUSG00000015083
Gene Name complement component 8, gamma polypeptide
Synonyms 1700013L23Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9601 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25388663-25391731 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 25388916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000028312] [ENSMUST00000040042] [ENSMUST00000124375]
AlphaFold Q8VCG4
Predicted Effect probably benign
Transcript: ENSMUST00000015227
SMART Domains Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083

DomainStartEndE-ValueType
Pfam:Lipocalin 14 152 3.3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000015239
SMART Domains Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095

DomainStartEndE-ValueType
FBOX 9 49 7.7e-6 SMART
WD40 81 120 3.11e-10 SMART
WD40 456 500 1.98e1 SMART
WD40 503 542 6.28e-6 SMART
low complexity region 553 563 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000028312
SMART Domains Protein: ENSMUSP00000028312
Gene: ENSMUSG00000026943

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Lipocalin 40 185 2.2e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000040042
SMART Domains Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin 48 186 3e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124375
SMART Domains Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095

DomainStartEndE-ValueType
SCOP:d1jjub_ 116 246 1e-11 SMART
Blast:WD40 172 216 2e-25 BLAST
Blast:WD40 219 246 7e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a secreted protein that is a core component of the complement 8 (C8) complex. C8 is part of the membrane attack complex which participates in the innate immune response against bacterial pathogens. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 T C 14: 8,049,808 (GRCm38) L246S possibly damaging Het
Ahcyl A G 16: 45,975,035 (GRCm39) I114T probably benign Het
Arhgap22 C A 14: 33,020,727 (GRCm39) H107N probably damaging Het
Atp6v0a2 G A 5: 124,790,257 (GRCm39) G480D probably damaging Het
Baz2b T C 2: 59,731,847 (GRCm39) T2064A possibly damaging Het
Bop1 T A 15: 76,338,688 (GRCm39) N449I probably benign Het
Camp T G 9: 109,677,504 (GRCm39) T110P Het
Ccdc141 T C 2: 76,885,073 (GRCm39) T523A possibly damaging Het
Ccdc157 A T 11: 4,094,598 (GRCm39) I578N probably damaging Het
Ccdc187 C T 2: 26,143,445 (GRCm39) A1298T possibly damaging Het
Cdc20 C T 4: 118,290,716 (GRCm39) W428* probably null Het
Chd9 A T 8: 91,732,360 (GRCm39) R1293* probably null Het
Clca3a1 C T 3: 144,453,310 (GRCm39) G505S probably benign Het
Clptm1 C A 7: 19,369,763 (GRCm39) W382C probably damaging Het
Cnot1 A T 8: 96,482,835 (GRCm39) N739K probably benign Het
Cntnap5a T C 1: 116,508,217 (GRCm39) I1243T probably damaging Het
Col12a1 T G 9: 79,525,034 (GRCm39) D2709A probably damaging Het
Cpm T C 10: 117,511,999 (GRCm39) probably null Het
Ctsd C A 7: 141,936,373 (GRCm39) G143C probably damaging Het
Cux2 A G 5: 122,025,461 (GRCm39) V69A possibly damaging Het
Cyp2c66 A T 19: 39,175,054 (GRCm39) I485L probably benign Het
Cyp4a29 T C 4: 115,105,772 (GRCm39) V158A probably damaging Het
Dbx1 A T 7: 49,282,403 (GRCm39) D267E probably damaging Het
Dop1b A G 16: 93,544,531 (GRCm39) Y224C possibly damaging Het
Dsg3 T A 18: 20,666,578 (GRCm39) C596S probably damaging Het
Fcgbpl1 G A 7: 27,853,805 (GRCm39) V1590I possibly damaging Het
Fgd2 G A 17: 29,593,860 (GRCm39) V456I probably benign Het
Gabra1 A T 11: 42,026,401 (GRCm39) I297N probably damaging Het
Grid1 A G 14: 35,167,814 (GRCm39) E446G probably damaging Het
H2bc12 T C 13: 22,220,393 (GRCm39) S113P probably benign Het
Hmmr A T 11: 40,598,210 (GRCm39) Y667* probably null Het
Katnip A G 7: 125,442,092 (GRCm39) Q693R probably benign Het
Klhl25 A G 7: 75,515,757 (GRCm39) D221G probably damaging Het
Krtcap2 T C 3: 89,156,449 (GRCm39) probably null Het
Lipi T A 16: 75,352,706 (GRCm39) N377I possibly damaging Het
Lrp2 C A 2: 69,289,928 (GRCm39) C3637F probably damaging Het
Mrgprh T C 17: 13,096,264 (GRCm39) F168S possibly damaging Het
Naip6 T C 13: 100,436,961 (GRCm39) T521A probably benign Het
Nkpd1 A T 7: 19,257,462 (GRCm39) I414F probably damaging Het
Or4c99 T A 2: 88,330,314 (GRCm39) M295K probably damaging Het
Or52z13 A T 7: 103,246,598 (GRCm39) D25V probably benign Het
Pcdhb21 A T 18: 37,648,385 (GRCm39) I505F probably damaging Het
Plxna1 C T 6: 89,308,253 (GRCm39) R1278Q probably damaging Het
Pofut2 T C 10: 77,095,220 (GRCm39) S22P possibly damaging Het
Prrc2b C A 2: 32,090,953 (GRCm39) R442S probably damaging Het
Sema3e T A 5: 14,302,397 (GRCm39) F641I possibly damaging Het
Sfswap G A 5: 129,618,463 (GRCm39) V466I possibly damaging Het
Slc22a21 A T 11: 53,850,051 (GRCm39) V268E possibly damaging Het
Slc6a17 T C 3: 107,380,930 (GRCm39) D525G possibly damaging Het
Spata21 C T 4: 140,822,467 (GRCm39) T91I possibly damaging Het
Spryd7 T G 14: 61,783,228 (GRCm39) H98P probably benign Het
Sptb G T 12: 76,667,763 (GRCm39) T778K probably damaging Het
Syne1 C T 10: 5,209,270 (GRCm39) R3411Q probably benign Het
Trank1 A G 9: 111,202,193 (GRCm39) I1607V probably benign Het
Ttll1 T C 15: 83,380,516 (GRCm39) D283G probably benign Het
Ufl1 G A 4: 25,275,807 (GRCm39) R199W probably benign Het
Vmn1r159 A G 7: 22,542,616 (GRCm39) S139P probably damaging Het
Vmn2r97 A G 17: 19,134,770 (GRCm39) I63V probably benign Het
Vps13a T C 19: 16,623,337 (GRCm39) S2775G possibly damaging Het
Zfp992 C T 4: 146,551,976 (GRCm39) H566Y probably damaging Het
Other mutations in C8g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:C8g APN 2 25,389,089 (GRCm39) missense probably damaging 1.00
IGL02176:C8g APN 2 25,389,122 (GRCm39) missense probably damaging 1.00
IGL03002:C8g APN 2 25,388,823 (GRCm39) makesense probably null
IGL03402:C8g APN 2 25,388,824 (GRCm39) makesense probably null
R1466:C8g UTSW 2 25,390,228 (GRCm39) missense probably benign 0.00
R1466:C8g UTSW 2 25,390,228 (GRCm39) missense probably benign 0.00
R1584:C8g UTSW 2 25,390,228 (GRCm39) missense probably benign 0.00
R1782:C8g UTSW 2 25,389,094 (GRCm39) missense possibly damaging 0.58
R4063:C8g UTSW 2 25,389,425 (GRCm39) missense probably damaging 0.99
R5864:C8g UTSW 2 25,388,955 (GRCm39) missense probably damaging 1.00
X0060:C8g UTSW 2 25,389,986 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCCAAGAGTGCATTCAGG -3'
(R):5'- AGCACTGGAACTCTGCCTAC -3'

Sequencing Primer
(F):5'- ATTCAGGATGCTCAGAACTCTC -3'
(R):5'- ACTGCCAGTGAATGACTCTG -3'
Posted On 2022-10-06