Incidental Mutation 'R5862:C6'
ID 453981
Institutional Source Beutler Lab
Gene Symbol C6
Ensembl Gene ENSMUSG00000022181
Gene Name complement component 6
Synonyms
MMRRC Submission 043231-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R5862 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 4756550-4833527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 4764745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 147 (D147V)
Ref Sequence ENSEMBL: ENSMUSP00000124417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022788] [ENSMUST00000161997] [ENSMUST00000162350] [ENSMUST00000162585]
AlphaFold E9Q6D8
Predicted Effect possibly damaging
Transcript: ENSMUST00000022788
AA Change: D147V

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: D147V

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 possibly damaging
Transcript: ENSMUST00000161997
AA Change: D147V

PolyPhen 2 Score 0.582 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
AA Change: D147V

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
Blast:TSP1 197 223 3e-9 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000162350
AA Change: D147V

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: D147V

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 possibly damaging
Transcript: ENSMUST00000162585
AA Change: D147V

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: D147V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 A G 1: 179,615,895 (GRCm39) Y326H probably damaging Het
Alpk2 T A 18: 65,440,360 (GRCm39) K811N probably damaging Het
Ap3b1 T A 13: 94,684,278 (GRCm39) M1014K unknown Het
Bphl G A 13: 34,247,967 (GRCm39) V247I possibly damaging Het
Clec18a G A 8: 111,808,190 (GRCm39) H71Y possibly damaging Het
Cse1l A G 2: 166,757,127 (GRCm39) T10A probably benign Het
Cyp2b9 G T 7: 25,887,232 (GRCm39) G214C probably benign Het
Dctn6 A T 8: 34,575,571 (GRCm39) probably null Het
Dnaja4 G T 9: 54,606,625 (GRCm39) probably benign Het
Dpp8 A T 9: 64,953,004 (GRCm39) S227C probably benign Het
Ecel1 T C 1: 87,077,318 (GRCm39) N630S probably benign Het
Etnppl T C 3: 130,425,473 (GRCm39) V426A possibly damaging Het
Golgb1 A T 16: 36,746,453 (GRCm39) silent Het
Hapln3 A T 7: 78,771,639 (GRCm39) H83Q possibly damaging Het
Hmgxb4 A G 8: 75,727,683 (GRCm39) K222R probably damaging Het
Hsf5 C A 11: 87,513,817 (GRCm39) T294K probably damaging Het
Ighv12-2 A G 12: 114,091,557 (GRCm39) noncoding transcript Het
Lrch3 A T 16: 32,816,179 (GRCm39) H587L probably damaging Het
Macroh2a1 T A 13: 56,222,084 (GRCm39) I359L probably damaging Het
Mboat1 C T 13: 30,419,680 (GRCm39) T339M probably damaging Het
Mief1 G A 15: 80,132,586 (GRCm39) R156Q probably benign Het
Ms4a6b T A 19: 11,499,167 (GRCm39) F94I probably benign Het
Neb T A 2: 52,069,554 (GRCm39) R307* probably null Het
Neu4 A G 1: 93,950,652 (GRCm39) I147V probably benign Het
Or5m9b T C 2: 85,905,990 (GRCm39) I302T probably benign Het
Pcyox1 A G 6: 86,368,656 (GRCm39) probably null Het
Pik3ap1 T A 19: 41,320,784 (GRCm39) D145V probably damaging Het
Pja2 T C 17: 64,604,821 (GRCm39) D454G probably benign Het
Plekhg1 C T 10: 3,887,914 (GRCm39) T281M probably damaging Het
Ptprq T C 10: 107,401,739 (GRCm39) I1918V probably benign Het
Rasgef1a A C 6: 118,057,405 (GRCm39) R35S probably benign Het
Rnf167 A G 11: 70,541,918 (GRCm39) T308A probably damaging Het
Sfmbt2 C T 2: 10,406,863 (GRCm39) T54I possibly damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Shkbp1 G T 7: 27,042,829 (GRCm39) S536* probably null Het
Taf2 C A 15: 54,911,719 (GRCm39) V566L possibly damaging Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Tyms A T 5: 30,268,408 (GRCm39) D97E probably damaging Het
Usp20 T A 2: 30,896,461 (GRCm39) L188* probably null Het
Zbtb10 T A 3: 9,330,276 (GRCm39) S545T probably damaging Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N probably damaging 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
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'- TGTGACTGACAAGGACATCC -3'
(R):5'- AAGCAAATGTATCAGGGAATTGGTC -3'

Sequencing Primer
(F):5'- GGCCTTGCTTTGAAATTATTCAC -3'
(R):5'- TCAGGGAATTGGTCAAGATTATTAAG -3'
Posted On 2017-02-10