Incidental Mutation 'R2068:C6'
ID 226884
Institutional Source Beutler Lab
Gene Symbol C6
Ensembl Gene ENSMUSG00000022181
Gene Name complement component 6
Synonyms
MMRRC Submission 040073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R2068 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 4756550-4833527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4820552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 521 (C521F)
Ref Sequence ENSEMBL: ENSMUSP00000124417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022788] [ENSMUST00000162350] [ENSMUST00000162585]
AlphaFold E9Q6D8
Predicted Effect probably damaging
Transcript: ENSMUST00000022788
AA Change: C521F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: C521F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSP1 26 79 1.68e-11 SMART
TSP1 84 134 1.05e-3 SMART
LDLa 139 175 1.46e-11 SMART
MACPF 312 516 1.89e-59 SMART
TSP1 568 617 3.9e-7 SMART
CCP 644 699 1.21e-9 SMART
CCP 704 761 3.56e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162350
AA Change: C521F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: C521F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSP1 26 79 1.68e-11 SMART
TSP1 84 134 1.05e-3 SMART
LDLa 139 175 1.46e-11 SMART
MACPF 312 516 1.89e-59 SMART
TSP1 568 617 3.9e-7 SMART
CCP 644 699 1.21e-9 SMART
CCP 704 761 3.56e-7 SMART
Blast:FIMAC 859 931 1e-36 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000162585
AA Change: C521F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: C521F

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
TSP1 26 79 1.68e-11 SMART
TSP1 84 134 1.05e-3 SMART
LDLa 139 175 1.46e-11 SMART
MACPF 312 516 1.89e-59 SMART
TSP1 568 617 3.9e-7 SMART
CCP 644 699 1.21e-9 SMART
CCP 704 761 3.56e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162729
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
Abcb5 A T 12: 118,904,303 (GRCm39) C162* probably null Het
Akr1c19 A T 13: 4,288,391 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bsn T G 9: 107,987,883 (GRCm39) probably benign Het
Bsn T A 9: 108,003,749 (GRCm39) M219L possibly damaging Het
Btnl9 T C 11: 49,060,390 (GRCm39) T453A probably damaging Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cdh20 A T 1: 110,065,666 (GRCm39) R647* probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cmya5 T A 13: 93,227,032 (GRCm39) K2685N possibly damaging Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cntn1 T C 15: 92,215,943 (GRCm39) V992A possibly damaging Het
Dapk1 G A 13: 60,899,022 (GRCm39) D831N probably damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah6 A G 6: 72,998,165 (GRCm39) Y4034H probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Eps8 A T 6: 137,499,172 (GRCm39) W239R probably benign Het
Fance T C 17: 28,539,799 (GRCm39) F83S possibly damaging Het
Fn1 A G 1: 71,639,598 (GRCm39) V1731A probably damaging Het
Gak G T 5: 108,718,091 (GRCm39) T1244K probably benign Het
Gas8 T A 8: 124,253,276 (GRCm39) I208N probably damaging Het
Gm9830 A T 9: 44,375,579 (GRCm39) noncoding transcript Het
Gm9837 T A 11: 53,361,092 (GRCm39) probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hdac3 C A 18: 38,076,569 (GRCm39) G257V probably damaging Het
Heg1 A G 16: 33,547,960 (GRCm39) T916A probably benign Het
Herc2 G T 7: 55,782,245 (GRCm39) G1311C probably damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Klrg2 G A 6: 38,613,928 (GRCm39) T25I probably benign Het
Lcn5 G A 2: 25,548,053 (GRCm39) V21M probably damaging Het
Liat1 T C 11: 75,891,077 (GRCm39) S64P possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lrrn3 A T 12: 41,502,995 (GRCm39) S441T probably damaging Het
Mpdz G A 4: 81,254,067 (GRCm39) R1W probably null Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mpzl2 G A 9: 44,955,169 (GRCm39) probably null Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Notch3 A G 17: 32,354,482 (GRCm39) C1748R probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oasl2 A C 5: 115,049,298 (GRCm39) D466A probably benign Het
Opa3 T C 7: 18,978,739 (GRCm39) I68T possibly damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or8g37 T C 9: 39,731,846 (GRCm39) F304L probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pdzrn3 T C 6: 101,127,660 (GRCm39) E1002G probably damaging Het
Pik3c2a A T 7: 115,972,126 (GRCm39) L768* probably null Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Pramel11 T C 4: 143,623,482 (GRCm39) M231V probably damaging Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Pum1 A G 4: 130,501,745 (GRCm39) T845A probably benign Het
Rad21l T C 2: 151,509,927 (GRCm39) H58R probably damaging Het
Rgma A C 7: 73,059,379 (GRCm39) D161A probably damaging Het
Scai T C 2: 39,013,025 (GRCm39) Y135C probably damaging Het
Scn2a T A 2: 65,582,417 (GRCm39) H1588Q probably benign Het
Sdha A T 13: 74,472,087 (GRCm39) probably null Het
Slc12a3 A G 8: 95,072,456 (GRCm39) D658G probably damaging Het
Slc5a3 A G 16: 91,874,128 (GRCm39) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Sulf1 A G 1: 12,910,627 (GRCm39) I649V probably damaging Het
Thbs1 C T 2: 117,954,018 (GRCm39) Q1090* probably null Het
Tjp2 C A 19: 24,099,687 (GRCm39) R400L probably benign Het
Tle4 A T 19: 14,427,113 (GRCm39) Y769* probably null Het
Trmt5 A T 12: 73,331,444 (GRCm39) probably null Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubac2 T A 14: 122,145,691 (GRCm39) Y116* probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Usp36 T C 11: 118,165,844 (GRCm39) T160A possibly damaging Het
Usp54 G T 14: 20,627,273 (GRCm39) P462T probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vps11 A G 9: 44,269,613 (GRCm39) S213P probably damaging Het
Zfp668 C T 7: 127,465,837 (GRCm39) G449D probably benign Het
Other mutations in C6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:C6 APN 15 4,789,449 (GRCm39) missense possibly damaging 0.53
IGL00918:C6 APN 15 4,764,739 (GRCm39) missense possibly damaging 0.90
IGL01615:C6 APN 15 4,811,378 (GRCm39) missense probably benign 0.00
IGL01637:C6 APN 15 4,789,399 (GRCm39) missense possibly damaging 0.69
IGL01662:C6 APN 15 4,822,236 (GRCm39) missense probably damaging 1.00
IGL02293:C6 APN 15 4,784,785 (GRCm39) missense probably benign 0.01
IGL02431:C6 APN 15 4,789,343 (GRCm39) nonsense probably null
IGL02568:C6 APN 15 4,820,646 (GRCm39) nonsense probably null
IGL02688:C6 APN 15 4,827,802 (GRCm39) missense probably benign 0.00
IGL02737:C6 APN 15 4,826,396 (GRCm39) missense probably benign 0.30
R0195:C6 UTSW 15 4,792,953 (GRCm39) missense probably benign 0.01
R0334:C6 UTSW 15 4,784,849 (GRCm39) missense probably benign 0.24
R0879:C6 UTSW 15 4,792,818 (GRCm39) splice site probably benign
R0940:C6 UTSW 15 4,764,717 (GRCm39) missense probably benign 0.12
R1342:C6 UTSW 15 4,769,231 (GRCm39) splice site probably benign
R1649:C6 UTSW 15 4,764,739 (GRCm39) missense possibly damaging 0.90
R1709:C6 UTSW 15 4,820,452 (GRCm39) missense probably benign 0.34
R1967:C6 UTSW 15 4,789,302 (GRCm39) missense probably damaging 0.99
R3056:C6 UTSW 15 4,769,355 (GRCm39) missense probably damaging 0.99
R3791:C6 UTSW 15 4,764,717 (GRCm39) missense probably benign 0.00
R3821:C6 UTSW 15 4,819,066 (GRCm39) missense probably benign 0.23
R3895:C6 UTSW 15 4,837,952 (GRCm39) missense probably benign 0.00
R4178:C6 UTSW 15 4,764,621 (GRCm39) missense probably benign 0.02
R4440:C6 UTSW 15 4,764,733 (GRCm39) missense possibly damaging 0.90
R4598:C6 UTSW 15 4,792,852 (GRCm39) missense possibly damaging 0.55
R4632:C6 UTSW 15 4,789,350 (GRCm39) missense probably benign 0.01
R4756:C6 UTSW 15 4,811,394 (GRCm39) missense probably benign
R4879:C6 UTSW 15 4,833,129 (GRCm39) splice site probably null
R5452:C6 UTSW 15 4,844,311 (GRCm39) missense possibly damaging 0.51
R5538:C6 UTSW 15 4,844,311 (GRCm39) missense possibly damaging 0.84
R5547:C6 UTSW 15 4,837,970 (GRCm39) missense probably benign 0.00
R5790:C6 UTSW 15 4,792,968 (GRCm39) missense probably damaging 1.00
R5862:C6 UTSW 15 4,764,745 (GRCm39) missense possibly damaging 0.66
R5946:C6 UTSW 15 4,837,996 (GRCm39) missense possibly damaging 0.96
R6049:C6 UTSW 15 4,764,654 (GRCm39) missense probably damaging 1.00
R6247:C6 UTSW 15 4,793,023 (GRCm39) missense probably damaging 1.00
R6438:C6 UTSW 15 4,826,465 (GRCm39) missense possibly damaging 0.94
R6873:C6 UTSW 15 4,820,461 (GRCm39) missense probably benign 0.03
R7052:C6 UTSW 15 4,763,177 (GRCm39) missense probably damaging 0.97
R7302:C6 UTSW 15 4,826,432 (GRCm39) missense probably damaging 1.00
R7361:C6 UTSW 15 4,826,404 (GRCm39) nonsense probably null
R7481:C6 UTSW 15 4,844,357 (GRCm39) missense
R7492:C6 UTSW 15 4,761,196 (GRCm39) missense probably benign 0.00
R7498:C6 UTSW 15 4,792,846 (GRCm39) missense probably damaging 1.00
R7569:C6 UTSW 15 4,819,063 (GRCm39) missense probably benign 0.01
R7653:C6 UTSW 15 4,844,244 (GRCm39) missense
R7666:C6 UTSW 15 4,818,987 (GRCm39) missense probably damaging 0.99
R7843:C6 UTSW 15 4,837,886 (GRCm39) missense
R8073:C6 UTSW 15 4,764,675 (GRCm39) missense probably benign 0.30
R8784:C6 UTSW 15 4,822,622 (GRCm39) missense probably damaging 1.00
R8814:C6 UTSW 15 4,822,266 (GRCm39) missense probably benign 0.00
R8825:C6 UTSW 15 4,761,170 (GRCm39) missense possibly damaging 0.79
R8878:C6 UTSW 15 4,826,454 (GRCm39) missense probably benign 0.30
R8987:C6 UTSW 15 4,844,344 (GRCm39) missense
R9088:C6 UTSW 15 4,792,956 (GRCm39) missense probably damaging 1.00
R9216:C6 UTSW 15 4,820,465 (GRCm39) missense probably damaging 1.00
R9253:C6 UTSW 15 4,764,679 (GRCm39) missense probably benign 0.00
R9288:C6 UTSW 15 4,835,532 (GRCm39) missense
R9517:C6 UTSW 15 4,827,914 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTAGTGCTGACAAAACACTGACTTC -3'
(R):5'- TTCACAACACGAGGTTCACTTG -3'

Sequencing Primer
(F):5'- GACTTCCAGAGTCGAAAGGAC -3'
(R):5'- GGTTCACTTGTGAGTTTTATTTTGTC -3'
Posted On 2014-09-17