Incidental Mutation 'R1522:C9'
ID 167561
Institutional Source Beutler Lab
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Name complement component 9
Synonyms
MMRRC Submission 040871-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1522 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 6474808-6528232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6516243 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 349 (F349I)
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749]
AlphaFold P06683
Predicted Effect probably damaging
Transcript: ENSMUST00000022749
AA Change: F349I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: F349I

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: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T C 6: 83,139,568 (GRCm39) S498P probably damaging Het
3100002H09Rik A G 4: 124,504,487 (GRCm39) W22R probably damaging Het
AA986860 A G 1: 130,670,831 (GRCm39) E351G probably damaging Het
Acsl5 T C 19: 55,268,924 (GRCm39) V195A probably benign Het
Actmap A G 7: 26,902,105 (GRCm39) H244R probably damaging Het
Adamts10 A G 17: 33,756,293 (GRCm39) D312G probably benign Het
Adgrb1 A G 15: 74,452,466 (GRCm39) M211V probably damaging Het
Ankfy1 C T 11: 72,646,693 (GRCm39) R859* probably null Het
Atp8b1 T A 18: 64,683,503 (GRCm39) I742L probably benign Het
B3galnt2 T A 13: 14,145,354 (GRCm39) V89E probably damaging Het
Brinp3 A C 1: 146,777,628 (GRCm39) T692P probably damaging Het
Cacna1a T A 8: 85,360,062 (GRCm39) M1976K probably benign Het
Castor2 T G 5: 134,154,726 (GRCm39) S43R probably damaging Het
Ccdc180 T C 4: 45,927,975 (GRCm39) V1170A possibly damaging Het
Celsr1 A G 15: 85,815,477 (GRCm39) V1846A probably benign Het
Ces1f A T 8: 93,998,517 (GRCm39) Y160N possibly damaging Het
Cfap45 A G 1: 172,368,139 (GRCm39) E377G probably damaging Het
Clca3a1 T A 3: 144,460,932 (GRCm39) M240L probably benign Het
Clnk G A 5: 38,952,309 (GRCm39) T10M probably damaging Het
Cntrl T A 2: 35,045,291 (GRCm39) I781K possibly damaging Het
Col11a2 G A 17: 34,274,228 (GRCm39) G375S probably damaging Het
Col6a5 T A 9: 105,817,193 (GRCm39) I373F unknown Het
Dmxl1 C T 18: 49,985,434 (GRCm39) A227V probably benign Het
Dok5 A G 2: 170,574,052 (GRCm39) N4D probably benign Het
Dpysl3 A T 18: 43,496,622 (GRCm39) V138D probably damaging Het
Efs A T 14: 55,157,172 (GRCm39) Y380N probably damaging Het
Eme2 G A 17: 25,111,892 (GRCm39) S263F probably damaging Het
Farp2 A G 1: 93,546,275 (GRCm39) Q855R possibly damaging Het
Fcrl2 A C 3: 87,164,014 (GRCm39) S372A possibly damaging Het
Gadl1 C T 9: 115,773,297 (GRCm39) A113V probably damaging Het
Gda T A 19: 21,389,903 (GRCm39) E219D probably benign Het
Gli1 A T 10: 127,168,446 (GRCm39) M469K probably damaging Het
Gm4847 A T 1: 166,469,219 (GRCm39) S148R probably damaging Het
Golga2 T C 2: 32,192,216 (GRCm39) V325A probably benign Het
Hpf1 A G 8: 61,349,783 (GRCm39) D137G probably damaging Het
Htr2a C G 14: 74,943,293 (GRCm39) S291* probably null Het
Itga5 G A 15: 103,265,209 (GRCm39) Q233* probably null Het
Jazf1 C A 6: 52,789,168 (GRCm39) R102L probably damaging Het
Kif6 T G 17: 50,021,141 (GRCm39) L322R probably damaging Het
Ktn1 A C 14: 47,904,873 (GRCm39) K217T probably damaging Het
Lig4 A T 8: 10,023,012 (GRCm39) V256E possibly damaging Het
Lrp1 G T 10: 127,403,233 (GRCm39) D2113E probably damaging Het
Lrp1 A T 10: 127,411,155 (GRCm39) D1399E probably benign Het
Mmel1 A G 4: 154,979,443 (GRCm39) E717G probably damaging Het
Mndal G T 1: 173,699,032 (GRCm39) P155H possibly damaging Het
Mycbpap A G 11: 94,402,449 (GRCm39) probably null Het
Nedd1 T C 10: 92,555,476 (GRCm39) E3G probably damaging Het
Nlgn1 A T 3: 25,490,073 (GRCm39) N551K probably damaging Het
Nup210 G A 6: 91,046,148 (GRCm39) P595L possibly damaging Het
Or2ag15 A G 7: 106,340,212 (GRCm39) C310R probably benign Het
Or2g25 A T 17: 37,970,661 (GRCm39) C188S probably damaging Het
Or4k52 A T 2: 111,610,693 (GRCm39) probably null Het
Or5ac17 T G 16: 59,036,347 (GRCm39) T210P probably damaging Het
Or5p56 A G 7: 107,589,740 (GRCm39) H56R probably benign Het
Pank3 G A 11: 35,672,508 (GRCm39) V304M probably benign Het
Phf3 G A 1: 30,844,729 (GRCm39) T1410I probably benign Het
Ppm1k A G 6: 57,502,142 (GRCm39) I7T possibly damaging Het
Ppp1r12c T C 7: 4,500,424 (GRCm39) D73G probably damaging Het
Prelid2 T G 18: 42,014,332 (GRCm39) M165L probably benign Het
Prkd3 A C 17: 79,260,125 (GRCm39) L826R probably damaging Het
Ptchd4 A T 17: 42,814,433 (GRCm39) N778I probably damaging Het
Ptprm T C 17: 67,000,866 (GRCm39) D1063G possibly damaging Het
Rab27a C A 9: 72,982,764 (GRCm39) T23N probably damaging Het
Rasgrf2 A T 13: 92,044,205 (GRCm39) F949L probably benign Het
Rbm33 A G 5: 28,542,002 (GRCm39) N68D probably damaging Het
Rgl1 A T 1: 152,462,284 (GRCm39) L109Q probably damaging Het
Rnf20 A G 4: 49,638,197 (GRCm39) N103S possibly damaging Het
Sbno1 G A 5: 124,530,675 (GRCm39) L875F probably damaging Het
Scube1 T A 15: 83,512,277 (GRCm39) probably null Het
Selenbp1 G A 3: 94,844,669 (GRCm39) V109M probably damaging Het
Serpina3c T A 12: 104,117,805 (GRCm39) I178F probably damaging Het
Shisa8 C T 15: 82,092,702 (GRCm39) G63D probably damaging Het
Snx14 T C 9: 88,284,277 (GRCm39) R464G possibly damaging Het
Snx25 A T 8: 46,577,119 (GRCm39) M1K probably null Het
Sorcs3 C A 19: 48,694,448 (GRCm39) T574K possibly damaging Het
Syne2 A G 12: 76,150,557 (GRCm39) E6528G probably damaging Het
Syt5 T C 7: 4,543,245 (GRCm39) E338G probably damaging Het
Tbk1 T C 10: 121,387,223 (GRCm39) K691E probably benign Het
Tenm3 G A 8: 48,848,611 (GRCm39) T11I probably damaging Het
Thrb A G 14: 18,002,597 (GRCm38) H87R probably damaging Het
Tlr4 T A 4: 66,757,933 (GRCm39) M242K possibly damaging Het
Tm4sf19 T C 16: 32,224,820 (GRCm39) M56T possibly damaging Het
Tmem212 T A 3: 27,940,620 (GRCm39) R66* probably null Het
Tmem39b G T 4: 129,578,275 (GRCm39) D315E probably benign Het
Tnxb T C 17: 34,937,612 (GRCm39) F3834L probably damaging Het
Trim36 A T 18: 46,319,250 (GRCm39) L225* probably null Het
Trim42 A T 9: 97,247,732 (GRCm39) H321Q probably damaging Het
Trio G T 15: 27,732,726 (GRCm39) Q3052K probably benign Het
Trpm3 T C 19: 22,955,698 (GRCm39) I1091T probably benign Het
Tst T C 15: 78,284,143 (GRCm39) E228G possibly damaging Het
Ttn T C 2: 76,702,060 (GRCm39) probably benign Het
Uap1 A C 1: 169,978,510 (GRCm39) probably null Het
Ush2a T C 1: 188,530,011 (GRCm39) S3267P possibly damaging Het
Usp5 T C 6: 124,802,129 (GRCm39) T38A probably benign Het
Uvssa A T 5: 33,545,152 (GRCm39) Q84L probably damaging Het
Vmn1r159 T G 7: 22,542,693 (GRCm39) H113P probably damaging Het
Vps13d A T 4: 144,824,742 (GRCm39) probably null Het
Zfp182 T A X: 20,897,799 (GRCm39) I166L probably benign Het
Zfp811 A T 17: 33,016,622 (GRCm39) Y472N 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
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
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'- GCAGTCACTGCTTGTCAAGATAGCAT -3'
(R):5'- GGCAACATTTAGAGCAATTTGTTCCCA -3'

Sequencing Primer
(F):5'- CTGCTTGTCAAGATAGCATGATTTG -3'
(R):5'- ACTGTTAGATGCTGAAGGGC -3'
Posted On 2014-04-13