Incidental Mutation 'R2229:C9'
ID 239627
Institutional Source Beutler Lab
Gene Symbol C9
Ensembl Gene ENSMUSG00000022149
Gene Name complement component 9
Synonyms
MMRRC Submission 040230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2229 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 6474808-6528232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6474901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 20 (I20T)
Ref Sequence ENSEMBL: ENSMUSP00000022749 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022749] [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110664]
AlphaFold P06683
Predicted Effect possibly damaging
Transcript: ENSMUST00000022749
AA Change: I20T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: I20T

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: ENSMUST00000078019
SMART Domains Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 270 288 N/A INTRINSIC
low complexity region 292 306 N/A INTRINSIC
low complexity region 335 355 N/A INTRINSIC
low complexity region 378 394 N/A INTRINSIC
PDB:3H8D|H 465 493 2e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000080880
SMART Domains Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 488 506 N/A INTRINSIC
low complexity region 510 524 N/A INTRINSIC
low complexity region 553 573 N/A INTRINSIC
low complexity region 596 612 N/A INTRINSIC
PDB:3H8D|H 683 711 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000110664
SMART Domains Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150

DomainStartEndE-ValueType
low complexity region 19 34 N/A INTRINSIC
PTB 45 179 1.16e-27 SMART
low complexity region 467 485 N/A INTRINSIC
low complexity region 489 503 N/A INTRINSIC
low complexity region 532 552 N/A INTRINSIC
low complexity region 575 591 N/A INTRINSIC
PDB:3H8D|H 662 690 3e-12 PDB
Predicted Effect unknown
Transcript: ENSMUST00000128097
AA Change: I16T
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Adgb A T 10: 10,311,795 (GRCm39) V212E probably damaging Het
Adgrg7 C T 16: 56,572,766 (GRCm39) S350N probably benign Het
Agbl1 A G 7: 76,083,126 (GRCm39) T448A probably benign Het
Aldh1l1 C G 6: 90,560,168 (GRCm39) T605R probably damaging Het
Arfip1 A T 3: 84,455,280 (GRCm39) N18K probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Banp G A 8: 122,705,424 (GRCm39) S98N probably damaging Het
Btnl9 T C 11: 49,059,945 (GRCm39) D601G probably damaging Het
Cacna1b A G 2: 24,575,816 (GRCm39) V744A probably damaging Het
Catsper3 A G 13: 55,955,867 (GRCm39) E311G probably damaging Het
Ccdc180 G T 4: 45,948,856 (GRCm39) probably null Het
Cdc5l A G 17: 45,718,772 (GRCm39) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Eml4 C T 17: 83,758,485 (GRCm39) P502S probably benign Het
Fsip1 T C 2: 118,052,925 (GRCm39) E367G probably benign Het
Gja3 T C 14: 57,274,171 (GRCm39) D67G probably damaging Het
Gm4894 T C 9: 49,185,490 (GRCm39) probably benign Het
Gm7853 A G 14: 35,811,484 (GRCm39) noncoding transcript Het
Gmps T G 3: 63,921,684 (GRCm39) Y562* probably null Het
Golga2 C A 2: 32,196,477 (GRCm39) P976T probably benign Het
Gpr182 T A 10: 127,586,010 (GRCm39) I314F possibly damaging Het
Gprc6a A G 10: 51,502,891 (GRCm39) V324A possibly damaging Het
Gykl1 A G 18: 52,828,339 (GRCm39) T516A probably benign Het
H2ac21 T C 3: 96,127,422 (GRCm39) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Kif3c T A 12: 3,416,671 (GRCm39) S231T probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lmnb2 T C 10: 80,740,226 (GRCm39) probably benign Het
Lrrc69 T C 4: 14,773,694 (GRCm39) S121G probably benign Het
Mppe1 A G 18: 67,361,082 (GRCm39) probably null Het
Muc5b T A 7: 141,415,381 (GRCm39) C2776S possibly damaging Het
Myh8 T G 11: 67,199,174 (GRCm39) N1893K probably damaging Het
Myo7a T C 7: 97,704,117 (GRCm39) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Nek5 A T 8: 22,603,648 (GRCm39) N151K possibly damaging Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Oca2 T A 7: 56,006,903 (GRCm39) H663Q probably benign Het
Optn T A 2: 5,028,928 (GRCm39) H525L probably damaging Het
Pdzph1 A G 17: 59,239,407 (GRCm39) probably benign Het
Pikfyve A G 1: 65,307,014 (GRCm39) K1801E probably damaging Het
Pkd2l2 G A 18: 34,563,382 (GRCm39) V478M probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Prpf19 A G 19: 10,874,962 (GRCm39) T39A probably benign Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Rcan3 T C 4: 135,152,688 (GRCm39) D11G probably benign Het
Rgsl1 C A 1: 153,698,104 (GRCm39) W482L possibly damaging Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Slc4a8 T C 15: 100,707,180 (GRCm39) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm39) V334A probably benign Het
Smarcc2 A G 10: 128,324,210 (GRCm39) probably benign Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Spats2 T C 15: 99,072,334 (GRCm39) probably null Het
Tas2r104 G A 6: 131,662,095 (GRCm39) H205Y probably damaging Het
Tcof1 A G 18: 60,965,249 (GRCm39) probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Trim25 T A 11: 88,907,447 (GRCm39) V602E probably damaging Het
Ttll9 A G 2: 152,824,983 (GRCm39) E54G probably damaging Het
Ttn T C 2: 76,559,668 (GRCm39) T29578A probably damaging Het
Tubgcp5 A G 7: 55,480,629 (GRCm39) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp13 A G 3: 32,971,700 (GRCm39) I727V probably benign Het
Vmn2r67 T A 7: 84,801,250 (GRCm39) I229F probably benign Het
Vmn2r92 A C 17: 18,387,654 (GRCm39) I220L probably benign Het
Wnk4 T A 11: 101,166,467 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc5 A G 2: 84,520,557 (GRCm39) I540T probably damaging Het
Zfp729b T C 13: 67,743,384 (GRCm39) I60M 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
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
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'- GTCTCCCAAGGAAAGAACTGC -3'
(R):5'- AATCCTGGGTGTTGTATAGGTCAC -3'

Sequencing Primer
(F):5'- CCAAGGAAAGAACTGCTAGGATTTTG -3'
(R):5'- GTATAGGTCACTGTTTAGCTTAACC -3'
Posted On 2014-10-15