Incidental Mutation 'IGL03402:C8g'
ID 421467
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 # IGL03402
Quality Score
Status
Chromosome 2
Chromosomal Location 25388663-25391731 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) A to T at 25388824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Lysine at position 203 (*203K)
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: *169K
SMART Domains Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
AA Change: *169K

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

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: ENSMUST00000153139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150580
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135456
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126601
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik T C 1: 53,216,972 (GRCm39) H81R probably benign Het
Alg10b A T 15: 90,112,532 (GRCm39) K459* probably null Het
Cacna1b T C 2: 24,652,821 (GRCm39) E80G probably damaging Het
Cdh12 T A 15: 21,583,826 (GRCm39) N555K probably benign Het
Cenpf T A 1: 189,387,273 (GRCm39) N1669I probably damaging Het
Cpsf1 A G 15: 76,480,203 (GRCm39) probably null Het
Ear1 A G 14: 44,056,575 (GRCm39) S98P probably benign Het
Elfn2 A T 15: 78,557,670 (GRCm39) D292E possibly damaging Het
Fbxw24 T C 9: 109,430,316 (GRCm39) S443G probably damaging Het
Fnip2 T C 3: 79,388,583 (GRCm39) E716G possibly damaging Het
Gabra1 G T 11: 42,024,345 (GRCm39) N443K probably damaging Het
Grik5 A T 7: 24,714,894 (GRCm39) V700E probably damaging Het
Ifi27l2a T A 12: 103,405,772 (GRCm39) N162K probably damaging Het
Myom2 A T 8: 15,115,731 (GRCm39) T49S probably benign Het
Obsl1 T C 1: 75,463,443 (GRCm39) M1750V probably benign Het
Or10g9b A T 9: 39,917,802 (GRCm39) W148R probably benign Het
Or2l13b A T 16: 19,349,667 (GRCm39) M1K probably null Het
Or2y1 A T 11: 49,385,873 (GRCm39) H171L probably benign Het
Ppp2r5e A G 12: 75,511,667 (GRCm39) V352A probably damaging Het
Prkca T A 11: 108,231,489 (GRCm39) Q63L probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Slfn14 T C 11: 83,167,139 (GRCm39) K792R probably benign Het
Slfn3 C T 11: 83,104,257 (GRCm39) T376M probably damaging Het
Snx19 A T 9: 30,351,430 (GRCm39) I135F possibly damaging Het
Stab2 A T 10: 86,805,165 (GRCm39) V271E probably benign Het
Trpv1 T G 11: 73,130,463 (GRCm39) F190V possibly damaging Het
Urb2 T C 8: 124,756,588 (GRCm39) V765A possibly damaging Het
Vmn2r61 A G 7: 41,909,679 (GRCm39) H68R probably benign Het
Vps8 T C 16: 21,267,148 (GRCm39) I177T possibly damaging Het
Zfp810 A C 9: 22,190,441 (GRCm39) probably null 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
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