Incidental Mutation 'IGL03002:C8g'
ID 407376
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C8g
Ensembl Gene ENSMUSG00000015083
Gene Name complement component 8, gamma polypeptide
Synonyms 1700013L23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03002
Quality Score
Status
Chromosome 2
Chromosomal Location 25388663-25391731 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to A at 25388823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Leucine at position 203 (*203L)
Ref Sequence ENSEMBL: ENSMUSP00000041855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000028312] [ENSMUST00000040042] [ENSMUST00000124375]
AlphaFold Q8VCG4
Predicted Effect probably null
Transcript: ENSMUST00000015227
AA Change: *169L
SMART Domains Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
AA Change: *169L

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
AA Change: *203L
SMART Domains Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083
AA Change: *203L

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Lipocalin 48 186 3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124258
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129104
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150580
Coding Region Coverage
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl T C 1: 66,876,128 (GRCm39) I398V probably benign Het
Adcy4 A T 14: 56,011,013 (GRCm39) C635S probably benign Het
Aoc1l3 A G 6: 48,964,052 (GRCm39) H20R probably benign Het
Asic4 C A 1: 75,427,967 (GRCm39) D164E possibly damaging Het
Cad T C 5: 31,212,330 (GRCm39) V11A probably benign Het
Cckar T C 5: 53,860,247 (GRCm39) N194S probably damaging Het
Cdc123 T C 2: 5,803,166 (GRCm39) probably benign Het
Chrm5 T C 2: 112,310,706 (GRCm39) T137A probably damaging Het
Cyp1a1 A G 9: 57,609,724 (GRCm39) probably benign Het
Dapk3 G T 10: 81,026,437 (GRCm39) E187* probably null Het
Dmtf1 T C 5: 9,190,474 (GRCm39) E80G probably damaging Het
Dusp19 T A 2: 80,461,279 (GRCm39) N189K probably damaging Het
Gfral A G 9: 76,104,520 (GRCm39) V164A possibly damaging Het
Hk1 A T 10: 62,107,578 (GRCm39) V799E probably damaging Het
Iars2 C T 1: 185,055,013 (GRCm39) probably null Het
Jcad T A 18: 4,675,153 (GRCm39) Y972N probably benign Het
Lrp1 A T 10: 127,425,505 (GRCm39) D708E probably damaging Het
Mbtd1 T A 11: 93,815,316 (GRCm39) H301Q probably benign Het
Med12 A G X: 100,339,461 (GRCm39) T2004A probably benign Het
Mib1 T C 18: 10,798,356 (GRCm39) I739T possibly damaging Het
Mthfsd C T 8: 121,835,018 (GRCm39) probably benign Het
Mybpc3 T G 2: 90,954,234 (GRCm39) F369C probably damaging Het
Nfatc2 C T 2: 168,376,904 (GRCm39) V329M probably damaging Het
Ngef A T 1: 87,437,114 (GRCm39) probably null Het
Nlrp1b T C 11: 71,059,685 (GRCm39) E759G probably benign Het
Or10aa3 C A 1: 173,878,191 (GRCm39) T84N probably benign Het
Prdm4 T C 10: 85,729,016 (GRCm39) E790G probably benign Het
Psmd12 A G 11: 107,376,607 (GRCm39) D81G probably benign Het
Rnf144b A G 13: 47,396,359 (GRCm39) H232R probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Slc16a4 A T 3: 107,208,102 (GRCm39) N204I probably benign Het
Socs1 T C 16: 10,602,404 (GRCm39) N111S probably damaging Het
Srpra A G 9: 35,126,017 (GRCm39) N432D probably damaging Het
Srrm2 A G 17: 24,034,708 (GRCm39) probably benign Het
Tgoln1 A G 6: 72,593,055 (GRCm39) S142P possibly damaging Het
Trbv13-1 A G 6: 41,093,169 (GRCm39) N34S probably benign Het
Vmn2r26 T C 6: 124,016,754 (GRCm39) V406A possibly damaging Het
Vsig1 G T X: 139,827,088 (GRCm39) G79V 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
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
R9601:C8g UTSW 2 25,388,916 (GRCm39) critical splice donor site probably null
X0060:C8g UTSW 2 25,389,986 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02