Incidental Mutation 'R7481:C6'
ID 579831
Institutional Source Beutler Lab
Gene Symbol C6
Ensembl Gene ENSMUSG00000022181
Gene Name complement component 6
Synonyms
MMRRC Submission 045555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 4756550-4833527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4844357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 926 (I926M)
Ref Sequence ENSEMBL: ENSMUSP00000125693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000162350]
AlphaFold E9Q6D8
Predicted Effect
SMART Domains Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: I926M

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or4a70 C T 2: 89,324,636 (GRCm39) V7I probably benign Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N 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
R2068:C6 UTSW 15 4,820,552 (GRCm39) missense probably damaging 1.00
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
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'- CGGGCTCCAAATGATTGTCTG -3'
(R):5'- GCCCAGCAATTTATGACTATGCC -3'

Sequencing Primer
(F):5'- CAAATGATTGTCTGTGGTGCCTCAC -3'
(R):5'- ATGACTATGCCAGTTTACTCTACG -3'
Posted On 2019-10-07