Incidental Mutation 'IGL02530:C9'
ID297288
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Namecomplement component 9
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02530
Quality Score
Status
Chromosome15
Chromosomal Location6445327-6498751 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6497132 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 549 (M549K)
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749]
Predicted Effect probably benign
Transcript: ENSMUST00000022749
AA Change: M549K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: M549K

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: ENSMUST00000147905
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158124
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 T C 7: 66,909,376 F305L probably damaging Het
Ankrd12 T C 17: 65,984,403 H1345R probably benign Het
Bloc1s5 A T 13: 38,603,883 M175K probably damaging Het
Cfap52 A G 11: 67,954,181 probably benign Het
Cntnap2 A T 6: 47,021,736 K907N possibly damaging Het
Cox8c T A 12: 102,899,493 probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp26b1 A T 6: 84,574,312 N307K possibly damaging Het
Cyp2s1 T C 7: 25,816,424 probably benign Het
Dpysl2 G A 14: 66,824,398 T253I probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Egflam T A 15: 7,222,812 I835F probably damaging Het
Eif5a A T 11: 69,919,163 H51Q possibly damaging Het
Fancd2 T A 6: 113,562,461 I637N probably damaging Het
Gpr173 T A X: 152,347,096 H127L probably damaging Het
Klc3 T C 7: 19,397,044 I203V probably benign Het
Lsg1 T C 16: 30,571,242 K352E probably benign Het
Man2a2 G A 7: 80,359,640 A822V probably damaging Het
Med12l G T 3: 59,077,089 D483Y probably damaging Het
Mlh1 A G 9: 111,229,875 Y694H probably benign Het
Mmrn1 A G 6: 60,958,176 R219G possibly damaging Het
Nsd1 T C 13: 55,302,833 probably benign Het
Olfr1080 C T 2: 86,553,880 M81I possibly damaging Het
Olfr1392 A T 11: 49,293,728 M136L possibly damaging Het
Pax3 A T 1: 78,121,787 S322T possibly damaging Het
Pkhd1 T A 1: 20,117,720 I3455F probably damaging Het
Plekhb2 T C 1: 34,876,941 V187A possibly damaging Het
Pot1a A T 6: 25,794,593 F31I probably damaging Het
Rpap1 A T 2: 119,783,239 probably benign Het
Scmh1 T A 4: 120,528,146 probably benign Het
Scn2a A G 2: 65,730,178 T1251A probably damaging Het
Siglecf T C 7: 43,352,210 V148A probably benign Het
Slit3 A G 11: 35,708,142 *1524W probably null Het
Son C A 16: 91,658,471 P1369T possibly damaging Het
Spp2 T A 1: 88,411,146 L25* probably null Het
Sptbn4 T C 7: 27,391,551 Q1405R probably damaging Het
Traf3ip2 G T 10: 39,646,906 A463S possibly damaging Het
Trappc11 T C 8: 47,507,582 E27G probably damaging Het
Vmn2r12 C T 5: 109,085,992 V785I probably damaging Het
Zc3h8 A G 2: 128,943,926 probably benign Het
Zfp57 T A 17: 37,006,164 S45T probably damaging Het
Other mutations in C9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00096:C9 APN 15 6486656 missense probably benign 0.04
IGL00229:C9 APN 15 6483231 missense possibly damaging 0.68
IGL00647:C9 APN 15 6483083 missense probably benign 0.43
IGL01618:C9 APN 15 6459668 missense probably benign 0.38
R0267:C9 UTSW 15 6467458 missense probably benign 0.00
R0477:C9 UTSW 15 6458183 missense probably benign 0.25
R0552:C9 UTSW 15 6445437 missense probably damaging 0.98
R0701:C9 UTSW 15 6467421 missense probably damaging 1.00
R0792:C9 UTSW 15 6486762 missense probably damaging 1.00
R0881:C9 UTSW 15 6458868 splice site probably benign
R1281:C9 UTSW 15 6489840 missense possibly damaging 0.80
R1384:C9 UTSW 15 6458934 missense probably benign 0.08
R1522:C9 UTSW 15 6486762 missense probably damaging 1.00
R1988:C9 UTSW 15 6483138 frame shift probably null
R2229:C9 UTSW 15 6445420 missense possibly damaging 0.95
R2406:C9 UTSW 15 6483299 missense possibly damaging 0.76
R3720:C9 UTSW 15 6483119 missense possibly damaging 0.95
R3723:C9 UTSW 15 6483080 missense possibly damaging 0.77
R3929:C9 UTSW 15 6467458 missense probably benign 0.00
R4371:C9 UTSW 15 6491484 missense probably damaging 1.00
R4615:C9 UTSW 15 6491463 missense probably damaging 0.99
R4616:C9 UTSW 15 6491463 missense probably damaging 0.99
R4618:C9 UTSW 15 6491463 missense probably damaging 0.99
R4749:C9 UTSW 15 6489830 missense probably benign 0.19
R4764:C9 UTSW 15 6459643 missense probably damaging 1.00
R5544:C9 UTSW 15 6497027 missense probably damaging 0.99
R5723:C9 UTSW 15 6486816 missense probably damaging 1.00
R5813:C9 UTSW 15 6497126 missense probably benign 0.05
R6735:C9 UTSW 15 6489906 missense probably benign 0.06
R6754:C9 UTSW 15 6489943 nonsense probably null
R6956:C9 UTSW 15 6445464 missense probably benign
R7706:C9 UTSW 15 6458921 missense probably benign 0.08
R7791:C9 UTSW 15 6489878 missense possibly damaging 0.82
R7893:C9 UTSW 15 6483245 missense possibly damaging 0.94
R8185:C9 UTSW 15 6491397 missense probably damaging 1.00
Z1177:C9 UTSW 15 6491519 missense probably damaging 1.00
Posted On2015-04-16