Incidental Mutation 'R1281:C9'
ID 151034
Institutional Source Beutler Lab
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Name complement component 9
Synonyms
MMRRC Submission 039347-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1281 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 6474808-6528232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6519321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 386 (N386I)
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749]
AlphaFold P06683
Predicted Effect possibly damaging
Transcript: ENSMUST00000022749
AA Change: N386I

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: N386I

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 noncoding transcript
Transcript: ENSMUST00000127196
Predicted Effect probably benign
Transcript: ENSMUST00000147905
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aim2 A T 1: 173,287,377 (GRCm39) K126* probably null Het
Csnk1e A C 15: 79,304,841 (GRCm39) N387K possibly damaging Het
Cul9 T C 17: 46,822,460 (GRCm39) T1758A probably damaging Het
Dcaf17 A G 2: 70,908,500 (GRCm39) I256V probably damaging Het
Duox1 G A 2: 122,157,569 (GRCm39) C565Y probably damaging Het
Fchsd2 A G 7: 100,902,759 (GRCm39) H379R possibly damaging Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Krt1c C A 15: 101,721,727 (GRCm39) C438F probably damaging Het
Mast4 G A 13: 102,887,086 (GRCm39) T1001I probably damaging Het
Mrc1 T C 2: 14,298,321 (GRCm39) F726L probably damaging Het
Mroh2a T TN 1: 88,183,889 (GRCm39) probably null Het
Mttp T C 3: 137,812,980 (GRCm39) N550S possibly damaging Het
Necap1 G T 6: 122,851,573 (GRCm39) D16Y possibly damaging Het
Nox3 A T 17: 3,746,460 (GRCm39) I26N probably damaging Het
Patj T C 4: 98,304,932 (GRCm39) I262T probably damaging Het
Pcdh8 T C 14: 80,005,166 (GRCm39) E953G probably damaging Het
Pirb A T 7: 3,720,189 (GRCm39) C395S probably damaging Het
Sacs A G 14: 61,429,250 (GRCm39) I433M probably benign Het
Sclt1 A G 3: 41,602,055 (GRCm39) F552L probably benign Het
Smc5 T C 19: 23,213,247 (GRCm39) N479S probably benign Het
Tg G A 15: 66,568,338 (GRCm39) V1342I probably benign Het
Ube2n C A 10: 95,377,618 (GRCm39) N132K probably benign Het
Vmn2r55 A T 7: 12,404,825 (GRCm39) C193S probably benign Het
Zc3hav1 A G 6: 38,330,872 (GRCm39) C96R probably damaging Het
Zfp60 T A 7: 27,437,852 (GRCm39) V53E probably 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
IGL01618:C9 APN 15 6,489,149 (GRCm39) missense probably benign 0.38
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
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
Predicted Primers PCR Primer
(F):5'- AGCAGGTGGTAAATATGTCCTTCGC -3'
(R):5'- AGTGTTGATTACGTCACGAGAGCC -3'

Sequencing Primer
(F):5'- TCGCTACTAAGTTGGCAAGC -3'
(R):5'- GTCACGAGAGCCAATACTCTTAG -3'
Posted On 2014-01-29