Incidental Mutation 'R1649:C6'
ID 174127
Institutional Source Beutler Lab
Gene Symbol C6
Ensembl Gene ENSMUSG00000022181
Gene Name complement component 6
Synonyms
MMRRC Submission 039685-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R1649 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 4756550-4833527 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4764739 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 145 (L145P)
Ref Sequence ENSEMBL: ENSMUSP00000125693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022788] [ENSMUST00000161997] [ENSMUST00000162350] [ENSMUST00000162585]
AlphaFold E9Q6D8
Predicted Effect probably benign
Transcript: ENSMUST00000022788
AA Change: L145P

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: L145P

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: L145P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
AA Change: L145P

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 possibly damaging
Transcript: ENSMUST00000162350
AA Change: L145P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: L145P

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 benign
Transcript: ENSMUST00000162585
AA Change: L145P

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: L145P

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: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 88.1%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1a1 T A 4: 116,495,217 (GRCm39) I261F probably damaging Het
Aldh1l1 T C 6: 90,541,371 (GRCm39) V255A probably benign Het
Ambn T A 5: 88,612,340 (GRCm39) M172K probably benign Het
Arhgef18 A G 8: 3,439,094 (GRCm39) probably benign Het
BC034090 T C 1: 155,101,319 (GRCm39) H315R possibly damaging Het
Btaf1 T A 19: 36,959,122 (GRCm39) D707E probably benign Het
Cav3 T A 6: 112,449,207 (GRCm39) L75Q probably damaging Het
Cavin2 T A 1: 51,339,939 (GRCm39) D205E probably benign Het
Cdadc1 T C 14: 59,811,242 (GRCm39) T423A probably damaging Het
Cep120 A T 18: 53,857,648 (GRCm39) H272Q probably damaging Het
Chd9 A T 8: 91,659,229 (GRCm39) Q63L possibly damaging Het
Clspn T C 4: 126,460,228 (GRCm39) probably benign Het
Cramp1 G T 17: 25,202,217 (GRCm39) H422N probably damaging Het
Csn1s2b A T 5: 87,966,943 (GRCm39) M71L probably benign Het
D630045J12Rik C A 6: 38,158,366 (GRCm39) A1104S probably damaging Het
D930048N14Rik A G 11: 51,545,663 (GRCm39) probably benign Het
Ern2 G A 7: 121,776,623 (GRCm39) P366S probably damaging Het
Gm1527 T C 3: 28,952,880 (GRCm39) I60T probably damaging Het
Gse1 T C 8: 121,305,254 (GRCm39) probably benign Het
Ildr1 T C 16: 36,528,681 (GRCm39) L42P probably damaging Het
Itih2 G A 2: 10,110,546 (GRCm39) T515I probably benign Het
Jcad C A 18: 4,673,309 (GRCm39) P357Q probably damaging Het
Kitl A G 10: 99,899,976 (GRCm39) T94A probably benign Het
Klri1 C T 6: 129,675,204 (GRCm39) M185I probably benign Het
Lsamp A T 16: 41,775,661 (GRCm39) M171L probably benign Het
Macf1 T G 4: 123,377,846 (GRCm39) I1460L probably damaging Het
Map1b C G 13: 99,652,986 (GRCm39) V4L probably benign Het
Mboat7 A T 7: 3,688,817 (GRCm39) V237D probably benign Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Nipsnap2 T A 5: 129,830,301 (GRCm39) I205N probably damaging Het
Nsd2 T C 5: 34,011,984 (GRCm39) V264A probably damaging Het
Oacyl C T 18: 65,883,167 (GRCm39) T582I probably damaging Het
Olfm1 A T 2: 28,119,279 (GRCm39) T333S possibly damaging Het
Olfm4 G A 14: 80,249,422 (GRCm39) E180K probably damaging Het
Or14j6 T C 17: 38,215,060 (GRCm39) F208L probably benign Het
Or2ad1 A T 13: 21,326,912 (GRCm39) L105Q probably damaging Het
Or8g17 T G 9: 38,930,776 (GRCm39) Q20H probably benign Het
Parp4 T A 14: 56,827,885 (GRCm39) V212E possibly damaging Het
Pcdhb21 T A 18: 37,648,666 (GRCm39) N598K probably damaging Het
Piezo2 C A 18: 63,250,743 (GRCm39) W452L probably benign Het
Plec C A 15: 76,090,011 (GRCm39) A110S possibly damaging Het
Popdc3 T C 10: 45,191,320 (GRCm39) Y144H probably damaging Het
Ptgdr T C 14: 45,095,959 (GRCm39) H251R probably benign Het
Ptpro T A 6: 137,421,015 (GRCm39) Y246* probably null Het
Pyroxd2 T C 19: 42,726,573 (GRCm39) D247G probably damaging Het
Robo2 T C 16: 73,695,889 (GRCm39) E1418G probably benign Het
Rtp3 T C 9: 110,815,772 (GRCm39) T198A probably benign Het
Sec16a A T 2: 26,315,536 (GRCm39) V1767D probably damaging Het
Septin14 T C 5: 129,774,819 (GRCm39) N119D probably benign Het
Serpina5 A T 12: 104,071,484 (GRCm39) T364S possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sh3bp2 C T 5: 34,716,348 (GRCm39) A253V possibly damaging Het
Slc6a5 G T 7: 49,586,010 (GRCm39) G443C probably damaging Het
Spag9 T A 11: 93,999,278 (GRCm39) probably null Het
Sptbn1 T C 11: 30,087,301 (GRCm39) E1033G probably damaging Het
Timm17a T G 1: 135,237,540 (GRCm39) Q39P probably damaging Het
Tmem26 A T 10: 68,587,103 (GRCm39) T184S probably damaging Het
Tpi1 A T 6: 124,789,891 (GRCm39) probably null Het
Tssk5 T C 15: 76,258,003 (GRCm39) Y118C possibly damaging Het
Ttll4 T A 1: 74,736,629 (GRCm39) L1118Q possibly damaging Het
Ttll5 T A 12: 85,969,788 (GRCm39) L691Q probably damaging Het
Vmn1r49 A T 6: 90,049,623 (GRCm39) H126Q possibly damaging Het
Zfp518b A T 5: 38,829,224 (GRCm39) V927E probably damaging Het
Zfp618 T C 4: 63,013,774 (GRCm39) F213S probably damaging Het
Zfp759 T A 13: 67,287,668 (GRCm39) N406K 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
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
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'- TTATTGCCTGCACACAGGAGACC -3'
(R):5'- GCTAATTTCACACCTGAGTGCCTGG -3'

Sequencing Primer
(F):5'- GTACAGTCCAGGTACTGTCACTATG -3'
(R):5'- GGGTAATTTGTAACATAACAACAGTC -3'
Posted On 2014-04-24