Incidental Mutation 'R1988:C9'
ID 222906
Institutional Source Beutler Lab
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Name complement component 9
Synonyms
MMRRC Submission 040000-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1988 (G1)
Quality Score 104
Status Not validated
Chromosome 15
Chromosomal Location 6474808-6528232 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) ATTTT to ATTT at 6512619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749]
AlphaFold P06683
Predicted Effect probably null
Transcript: ENSMUST00000022749
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 96% (79/82)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,854,394 (GRCm39) D216V possibly damaging Het
2610021A01Rik C T 7: 41,276,081 (GRCm39) R595* probably null Het
Adgrl3 A G 5: 81,836,414 (GRCm39) D724G probably damaging Het
Akap6 T C 12: 53,187,578 (GRCm39) F1664S possibly damaging Het
Akt1 T C 12: 112,621,585 (GRCm39) I404V probably benign Het
Anxa13 T A 15: 58,205,344 (GRCm39) noncoding transcript Het
Atoh1 T C 6: 64,706,617 (GRCm39) V104A probably benign Het
Brwd1 T C 16: 95,822,437 (GRCm39) D1256G probably damaging Het
Cd164 A G 10: 41,399,177 (GRCm39) T89A probably benign Het
Cep350 G C 1: 155,808,850 (GRCm39) N575K possibly damaging Het
Chrm5 A G 2: 112,310,597 (GRCm39) V173A probably damaging Het
Cnot1 A G 8: 96,468,572 (GRCm39) V1417A possibly damaging Het
Cntnap3 T C 13: 64,906,204 (GRCm39) T801A probably damaging Het
Cntnap5b A C 1: 99,999,865 (GRCm39) K208Q possibly damaging Het
Crx A T 7: 15,603,272 (GRCm39) V107D possibly damaging Het
Csrnp2 A G 15: 100,387,321 (GRCm39) F49S probably damaging Het
Ctbp1 A G 5: 33,408,248 (GRCm39) L228P possibly damaging Het
Ctdp1 A T 18: 80,492,616 (GRCm39) D626E possibly damaging Het
Cyp1a2 T C 9: 57,589,569 (GRCm39) T82A possibly damaging Het
Dnah3 T A 7: 119,566,793 (GRCm39) T2478S possibly damaging Het
Dnah3 T G 7: 119,567,182 (GRCm39) D2348A probably damaging Het
Dnah5 T C 15: 28,343,737 (GRCm39) I2379T probably damaging Het
Dnah6 A G 6: 73,069,175 (GRCm39) I2504T probably damaging Het
Dnase1l2 A C 17: 24,660,625 (GRCm39) W138G probably damaging Het
Dop1b T A 16: 93,563,061 (GRCm39) I855N probably damaging Het
Dsc3 T A 18: 20,098,903 (GRCm39) N759Y possibly damaging Het
Dtx2 C T 5: 136,061,147 (GRCm39) R510* probably null Het
Fat4 G T 3: 38,941,264 (GRCm39) M52I probably benign Het
Fat4 G A 3: 39,050,239 (GRCm39) E4034K probably damaging Het
Fezf2 T C 14: 12,344,350 (GRCm38) K279R probably damaging Het
Fsip2 G T 2: 82,806,861 (GRCm39) W1060L possibly damaging Het
G6pc1 T A 11: 101,258,768 (GRCm39) I49N probably damaging Het
Gars1 A G 6: 55,054,757 (GRCm39) E688G probably null Het
Gdf11 T C 10: 128,721,111 (GRCm39) N361S probably benign Het
Gli3 A C 13: 15,900,965 (GRCm39) M1451L probably benign Het
Heatr3 T C 8: 88,876,945 (GRCm39) I329T probably benign Het
Herc3 T G 6: 58,861,960 (GRCm39) probably null Het
Hrnr A G 3: 93,239,911 (GRCm39) N3383S unknown Het
Igsf3 A T 3: 101,338,612 (GRCm39) I309F probably benign Het
Kif21b C T 1: 136,080,002 (GRCm39) R513W probably damaging Het
Kif7 G T 7: 79,348,989 (GRCm39) H1195Q probably benign Het
Lpcat4 T C 2: 112,072,887 (GRCm39) V182A possibly damaging Het
Map3k21 T A 8: 126,654,294 (GRCm39) I371N probably benign Het
Mns1 G A 9: 72,356,041 (GRCm39) probably null Het
Myo3a A G 2: 22,468,140 (GRCm39) T465A possibly damaging Het
Nlrc4 A T 17: 74,733,938 (GRCm39) S992T probably benign Het
Notch4 G A 17: 34,806,562 (GRCm39) G1833E possibly damaging Het
Or52ad1 T A 7: 102,995,316 (GRCm39) Y273F possibly damaging Het
Or52n2 T C 7: 104,542,110 (GRCm39) T242A probably damaging Het
Or5g29 G A 2: 85,420,985 (GRCm39) V34I probably benign Het
Or5p5 A T 7: 107,413,907 (GRCm39) I39L probably benign Het
Or8a1b A T 9: 37,622,993 (GRCm39) I194K possibly damaging Het
Pcdh9 G A 14: 94,125,741 (GRCm39) P143L probably damaging Het
Pik3cd T A 4: 149,747,660 (GRCm39) T28S probably damaging Het
Pkd1 G T 17: 24,795,566 (GRCm39) probably null Het
Plk4 A T 3: 40,760,252 (GRCm39) S383C possibly damaging Het
Plxna2 T C 1: 194,326,297 (GRCm39) L77P probably damaging Het
Ppm1f T C 16: 16,741,530 (GRCm39) S335P probably damaging Het
Prr16 C T 18: 51,436,349 (GRCm39) P276L probably damaging Het
Rilp A G 11: 75,401,759 (GRCm39) probably null Het
Rspry1 A G 8: 95,358,682 (GRCm39) probably null Het
Serpinb9b T C 13: 33,213,542 (GRCm39) V33A probably benign Het
Slc4a10 C A 2: 62,098,548 (GRCm39) Q561K probably damaging Het
Smyd5 T C 6: 85,415,118 (GRCm39) I42T possibly damaging Het
Stk17b T C 1: 53,800,241 (GRCm39) N246D probably damaging Het
Suco T C 1: 161,646,380 (GRCm39) probably null Het
Tecpr1 C T 5: 144,141,515 (GRCm39) V785M possibly damaging Het
Telo2 C T 17: 25,320,642 (GRCm39) V756I probably benign Het
Tgm1 C T 14: 55,943,034 (GRCm39) R602H probably benign Het
Timeless A G 10: 128,080,056 (GRCm39) T402A probably damaging Het
Tnfaip2 T A 12: 111,416,325 (GRCm39) probably null Het
Trgc3 C A 13: 19,445,164 (GRCm39) F37L probably damaging Het
Trim5 A G 7: 103,914,828 (GRCm39) S414P probably damaging Het
Txnip A G 3: 96,467,066 (GRCm39) T247A possibly damaging Het
Vmn1r174 A T 7: 23,454,050 (GRCm39) T239S probably damaging Het
Vmn1r231 T A 17: 21,110,212 (GRCm39) E234D probably damaging Het
Zranb3 A T 1: 127,887,480 (GRCm39) N982K probably benign 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
R1522:C9 UTSW 15 6,516,243 (GRCm39) missense probably damaging 1.00
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'- AGGCTCTGTACTTGAACCACAG -3'
(R):5'- TCCAGTTCTTACCGACTGCG -3'

Sequencing Primer
(F):5'- TCTGTACTTGAACCACAGAAACCTG -3'
(R):5'- GTTCTTACCGACTGCGAAAAATAAG -3'
Posted On 2014-08-25