Incidental Mutation 'IGL01618:C9'
ID 92470
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Name complement component 9
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01618
Quality Score
Status
Chromosome 15
Chromosomal Location 6474808-6528232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 6489149 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 169 (Y169D)
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749]
AlphaFold P06683
Predicted Effect probably benign
Transcript: ENSMUST00000022749
AA Change: Y169D

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: Y169D

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
TSP1 56 106 1.8e-6 SMART
LDLa 111 147 2.7e-12 SMART
MACPF 304 519 2.9e-52 SMART
Blast:EGF 525 556 4e-11 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000128097
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,261,265 (GRCm39) A74V probably benign Het
Adh4 C T 3: 138,134,788 (GRCm39) probably benign Het
Aldh1a3 G A 7: 66,058,978 (GRCm39) T239I probably damaging Het
Anxa9 A G 3: 95,207,847 (GRCm39) probably null Het
Atp5me C A 5: 108,581,899 (GRCm39) K28N probably damaging Het
Chat T A 14: 32,168,849 (GRCm39) probably null Het
Csmd3 C T 15: 47,874,479 (GRCm39) E706K probably benign Het
Ctbs A G 3: 146,160,867 (GRCm39) K145E probably benign Het
Dennd5a A G 7: 109,533,302 (GRCm39) M156T probably damaging Het
Dhx29 A G 13: 113,101,756 (GRCm39) Y1275C probably damaging Het
Dpp10 A T 1: 123,295,596 (GRCm39) F517Y probably benign Het
Dst G A 1: 34,227,990 (GRCm39) W1536* probably null Het
Galc T C 12: 98,218,340 (GRCm39) T171A possibly damaging Het
Gsap T C 5: 21,431,246 (GRCm39) I190T probably damaging Het
Hars2 A T 18: 36,922,630 (GRCm39) R388* probably null Het
Igsf21 C T 4: 139,834,675 (GRCm39) G66S possibly damaging Het
Itgbl1 T A 14: 124,065,211 (GRCm39) S122T possibly damaging Het
Jhy G T 9: 40,872,260 (GRCm39) T83K possibly damaging Het
Kcne4 A T 1: 78,795,525 (GRCm39) M58L possibly damaging Het
Lamc3 T A 2: 31,802,119 (GRCm39) I509N probably damaging Het
Lpar6 T C 14: 73,476,506 (GRCm39) S156P probably damaging Het
Man2c1 T C 9: 57,048,840 (GRCm39) probably benign Het
Marchf11 T C 15: 26,409,285 (GRCm39) I328T possibly damaging Het
Mc3r T A 2: 172,091,290 (GRCm39) C171S probably benign Het
Muc4 A T 16: 32,577,001 (GRCm39) Q2167L unknown Het
Myom1 T C 17: 71,406,988 (GRCm39) V1135A possibly damaging Het
Nectin1 C T 9: 43,702,555 (GRCm39) R101* probably null Het
Nxpe4 T C 9: 48,305,440 (GRCm39) S277P possibly damaging Het
Or1e35 T C 11: 73,798,303 (GRCm39) N5S probably damaging Het
Or2a52 T A 6: 43,144,637 (GRCm39) V215E probably damaging Het
Or52r1c G A 7: 102,735,582 (GRCm39) V281I probably benign Het
Or5b106 T A 19: 13,123,614 (GRCm39) K136N probably benign Het
Or5w19 A C 2: 87,698,488 (GRCm39) D51A probably damaging Het
Pappa2 G T 1: 158,684,948 (GRCm39) N730K probably damaging Het
Prepl A G 17: 85,373,709 (GRCm39) V586A probably damaging Het
Prrc2a T C 17: 35,368,529 (GRCm39) Y2098C probably damaging Het
Rdh16 G A 10: 127,637,176 (GRCm39) C37Y probably damaging Het
Rnd1 A T 15: 98,571,746 (GRCm39) M100K probably benign Het
Sema3c A G 5: 17,877,504 (GRCm39) N204D probably damaging Het
Susd4 A G 1: 182,686,026 (GRCm39) probably null Het
Taar7f G T 10: 23,926,239 (GRCm39) A278S possibly damaging Het
Tle4 T A 19: 14,522,178 (GRCm39) M122L probably benign Het
Trim9 C T 12: 70,295,125 (GRCm39) V662I probably benign Het
Vmn2r10 C A 5: 109,150,345 (GRCm39) C233F probably damaging Het
Vmn2r98 A C 17: 19,285,521 (GRCm39) T114P possibly damaging Het
Zfyve21 C T 12: 111,794,247 (GRCm39) probably benign Het
Zng1 T C 19: 24,918,140 (GRCm39) E210G possibly damaging Het
Other mutations in C9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:C9 APN 15 6,516,137 (GRCm39) missense probably benign 0.04
IGL00229:C9 APN 15 6,512,712 (GRCm39) missense possibly damaging 0.68
IGL00647:C9 APN 15 6,512,564 (GRCm39) missense probably benign 0.43
IGL02530:C9 APN 15 6,526,613 (GRCm39) missense probably benign
R0267:C9 UTSW 15 6,496,939 (GRCm39) missense probably benign 0.00
R0477:C9 UTSW 15 6,487,664 (GRCm39) missense probably benign 0.25
R0552:C9 UTSW 15 6,474,918 (GRCm39) missense probably damaging 0.98
R0701:C9 UTSW 15 6,496,902 (GRCm39) missense probably damaging 1.00
R0792:C9 UTSW 15 6,516,243 (GRCm39) missense probably damaging 1.00
R0881:C9 UTSW 15 6,488,349 (GRCm39) splice site probably benign
R1281:C9 UTSW 15 6,519,321 (GRCm39) missense possibly damaging 0.80
R1384:C9 UTSW 15 6,488,415 (GRCm39) missense probably benign 0.08
R1522:C9 UTSW 15 6,516,243 (GRCm39) missense probably damaging 1.00
R1988:C9 UTSW 15 6,512,619 (GRCm39) frame shift probably null
R2229:C9 UTSW 15 6,474,901 (GRCm39) missense possibly damaging 0.95
R2406:C9 UTSW 15 6,512,780 (GRCm39) missense possibly damaging 0.76
R3720:C9 UTSW 15 6,512,600 (GRCm39) missense possibly damaging 0.95
R3723:C9 UTSW 15 6,512,561 (GRCm39) missense possibly damaging 0.77
R3929:C9 UTSW 15 6,496,939 (GRCm39) missense probably benign 0.00
R4371:C9 UTSW 15 6,520,965 (GRCm39) missense probably damaging 1.00
R4615:C9 UTSW 15 6,520,944 (GRCm39) missense probably damaging 0.99
R4616:C9 UTSW 15 6,520,944 (GRCm39) missense probably damaging 0.99
R4618:C9 UTSW 15 6,520,944 (GRCm39) missense probably damaging 0.99
R4749:C9 UTSW 15 6,519,311 (GRCm39) missense probably benign 0.19
R4764:C9 UTSW 15 6,489,124 (GRCm39) missense probably damaging 1.00
R5544:C9 UTSW 15 6,526,508 (GRCm39) missense probably damaging 0.99
R5723:C9 UTSW 15 6,516,297 (GRCm39) missense probably damaging 1.00
R5813:C9 UTSW 15 6,526,607 (GRCm39) missense probably benign 0.05
R6735:C9 UTSW 15 6,519,387 (GRCm39) missense probably benign 0.06
R6754:C9 UTSW 15 6,519,424 (GRCm39) nonsense probably null
R6956:C9 UTSW 15 6,474,945 (GRCm39) missense probably benign
R7706:C9 UTSW 15 6,488,402 (GRCm39) missense probably benign 0.08
R7791:C9 UTSW 15 6,519,359 (GRCm39) missense possibly damaging 0.82
R7893:C9 UTSW 15 6,512,726 (GRCm39) missense possibly damaging 0.94
R7977:C9 UTSW 15 6,496,943 (GRCm39) nonsense probably null
R7987:C9 UTSW 15 6,496,943 (GRCm39) nonsense probably null
R8185:C9 UTSW 15 6,520,878 (GRCm39) missense probably damaging 1.00
R9013:C9 UTSW 15 6,516,193 (GRCm39) missense probably damaging 1.00
R9569:C9 UTSW 15 6,489,062 (GRCm39) missense probably damaging 1.00
R9716:C9 UTSW 15 6,526,430 (GRCm39) critical splice acceptor site probably null
Z1177:C9 UTSW 15 6,521,000 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09