Incidental Mutation 'R0360:C7'
ID 30063
Institutional Source Beutler Lab
Gene Symbol C7
Ensembl Gene ENSMUSG00000079105
Gene Name complement component 7
Synonyms LOC383055
MMRRC Submission 038566-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0360 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 5018244-5093222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5018444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 800 (T800S)
Ref Sequence ENSEMBL: ENSMUSP00000106317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110689]
AlphaFold D3YXF5
Predicted Effect probably benign
Transcript: ENSMUST00000110689
AA Change: T800S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: T800S

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
TSP1 30 80 1.95e-7 SMART
LDLa 84 121 6.53e-9 SMART
MACPF 248 450 9.45e-51 SMART
TSP1 503 551 1.62e-4 SMART
CCP 571 626 1.84e-9 SMART
CCP 631 688 2.23e-8 SMART
FIMAC 699 766 1.63e-24 SMART
FIMAC 773 841 4.65e-20 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.6%
Validation Efficiency 98% (93/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Adcyap1r1 G T 6: 55,452,508 (GRCm39) probably benign Het
Ankrd6 T C 4: 32,836,424 (GRCm39) T44A probably damaging Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Bhlhe40 C A 6: 108,641,711 (GRCm39) N218K probably damaging Het
Bms1 A G 6: 118,382,251 (GRCm39) V429A probably benign Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc157 T C 11: 4,096,663 (GRCm39) E362G probably damaging Het
Ccdc73 T A 2: 104,811,352 (GRCm39) N310K probably damaging Het
Cfap91 T A 16: 38,118,659 (GRCm39) probably null Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Cnst C A 1: 179,407,100 (GRCm39) A49E probably benign Het
Col5a3 C T 9: 20,683,762 (GRCm39) R1498Q unknown Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
D16Ertd472e A T 16: 78,344,773 (GRCm39) C112S probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dpp6 T C 5: 27,857,267 (GRCm39) L404P probably damaging Het
Dsc3 T A 18: 20,104,639 (GRCm39) T563S possibly damaging Het
Dync2h1 T A 9: 7,113,182 (GRCm39) E214D possibly damaging Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fancm A G 12: 65,122,724 (GRCm39) Y82C probably damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gchfr T G 2: 118,998,327 (GRCm39) Y3* probably null Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hgd T A 16: 37,431,546 (GRCm39) probably benign Het
Hs6st1 G A 1: 36,108,266 (GRCm39) probably null Het
Icam4 A G 9: 20,941,117 (GRCm39) Y123C probably damaging Het
Il24 A G 1: 130,811,674 (GRCm39) V134A probably damaging Het
Iqcb1 G T 16: 36,692,670 (GRCm39) A562S probably damaging Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Kif1b A G 4: 149,347,186 (GRCm39) I330T probably damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Klf10 C T 15: 38,297,090 (GRCm39) V317M probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Lin37 T C 7: 30,256,438 (GRCm39) I97V possibly damaging Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Lrrc74a A G 12: 86,784,569 (GRCm39) H99R probably damaging Het
Me3 T A 7: 89,435,622 (GRCm39) probably null Het
Med13 T C 11: 86,219,987 (GRCm39) probably benign Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Myo10 T C 15: 25,804,454 (GRCm39) L1583P probably damaging Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Nlrp5-ps A C 7: 14,317,016 (GRCm39) noncoding transcript Het
Nup188 T G 2: 30,216,491 (GRCm39) I765S probably null Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or1j19 T A 2: 36,677,452 (GRCm39) M305K probably benign Het
Or5a1 G T 19: 12,097,217 (GRCm39) D286E possibly damaging Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Otogl T A 10: 107,606,511 (GRCm39) probably benign Het
Pcnx3 G A 19: 5,715,611 (GRCm39) R1472W probably damaging Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plscr4 T A 9: 92,370,814 (GRCm39) probably benign Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rgl3 A G 9: 21,888,153 (GRCm39) W454R probably damaging Het
Rita1 A G 5: 120,747,837 (GRCm39) S154P probably benign Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Sec23ip G A 7: 128,363,129 (GRCm39) probably benign Het
Skic8 A T 9: 54,634,862 (GRCm39) probably benign Het
Slc23a1 T A 18: 35,756,032 (GRCm39) probably benign Het
Slco1a8 A C 6: 141,928,053 (GRCm39) probably benign Het
Sparcl1 T A 5: 104,237,503 (GRCm39) D444V probably damaging Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tmcc3 T A 10: 94,414,407 (GRCm39) N36K probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r30 A G 6: 58,412,262 (GRCm39) V190A probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vmn1r58 G T 7: 5,413,329 (GRCm39) H300Q probably benign Het
Vmn1r84 A G 7: 12,095,799 (GRCm39) L286P probably damaging Het
Vmn2r54 A T 7: 12,349,576 (GRCm39) C669S probably damaging Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign Het
Other mutations in C7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:C7 APN 15 5,088,871 (GRCm39) splice site probably benign
IGL02803:C7 APN 15 5,079,042 (GRCm39) missense probably damaging 1.00
R0016:C7 UTSW 15 5,076,406 (GRCm39) missense probably benign 0.01
R0016:C7 UTSW 15 5,076,406 (GRCm39) missense probably benign 0.01
R0271:C7 UTSW 15 5,044,862 (GRCm39) missense possibly damaging 0.81
R0433:C7 UTSW 15 5,018,398 (GRCm39) missense probably damaging 1.00
R0505:C7 UTSW 15 5,023,624 (GRCm39) splice site probably benign
R1056:C7 UTSW 15 5,075,260 (GRCm39) missense possibly damaging 0.89
R1443:C7 UTSW 15 5,088,901 (GRCm39) missense probably benign 0.01
R1468:C7 UTSW 15 5,041,631 (GRCm39) missense probably damaging 1.00
R1468:C7 UTSW 15 5,041,631 (GRCm39) missense probably damaging 1.00
R1700:C7 UTSW 15 5,032,274 (GRCm39) nonsense probably null
R1774:C7 UTSW 15 5,041,557 (GRCm39) missense probably damaging 0.99
R1801:C7 UTSW 15 5,041,503 (GRCm39) missense possibly damaging 0.61
R1809:C7 UTSW 15 5,063,821 (GRCm39) missense probably damaging 0.99
R1986:C7 UTSW 15 5,041,494 (GRCm39) missense possibly damaging 0.94
R2037:C7 UTSW 15 5,063,720 (GRCm39) nonsense probably null
R2047:C7 UTSW 15 5,075,143 (GRCm39) missense probably damaging 1.00
R2073:C7 UTSW 15 5,019,910 (GRCm39) missense probably benign 0.09
R3972:C7 UTSW 15 5,037,133 (GRCm39) missense possibly damaging 0.77
R4080:C7 UTSW 15 5,019,946 (GRCm39) missense probably benign 0.09
R4200:C7 UTSW 15 5,019,791 (GRCm39) critical splice donor site probably null
R4576:C7 UTSW 15 5,032,238 (GRCm39) missense probably damaging 1.00
R4815:C7 UTSW 15 5,088,887 (GRCm39) missense probably benign 0.16
R4995:C7 UTSW 15 5,079,074 (GRCm39) missense probably damaging 1.00
R5300:C7 UTSW 15 5,061,432 (GRCm39) missense probably damaging 1.00
R5562:C7 UTSW 15 5,061,397 (GRCm39) nonsense probably null
R5708:C7 UTSW 15 5,044,883 (GRCm39) missense possibly damaging 0.90
R5740:C7 UTSW 15 5,086,522 (GRCm39) missense probably benign 0.00
R5873:C7 UTSW 15 5,034,717 (GRCm39) missense probably damaging 1.00
R6222:C7 UTSW 15 5,041,423 (GRCm39) missense possibly damaging 0.89
R6516:C7 UTSW 15 5,086,563 (GRCm39) missense probably damaging 0.98
R6810:C7 UTSW 15 5,037,136 (GRCm39) missense probably damaging 0.98
R7019:C7 UTSW 15 5,075,164 (GRCm39) missense probably benign 0.04
R7199:C7 UTSW 15 5,023,725 (GRCm39) missense probably benign 0.09
R7276:C7 UTSW 15 5,041,449 (GRCm39) missense probably damaging 1.00
R7422:C7 UTSW 15 5,041,538 (GRCm39) missense probably benign 0.13
R7652:C7 UTSW 15 5,041,587 (GRCm39) missense probably damaging 1.00
R7783:C7 UTSW 15 5,037,192 (GRCm39) missense probably benign 0.08
R8266:C7 UTSW 15 5,037,141 (GRCm39) missense probably damaging 0.99
R8295:C7 UTSW 15 5,018,327 (GRCm39) missense probably damaging 1.00
R8848:C7 UTSW 15 5,088,911 (GRCm39) missense probably damaging 0.96
R8951:C7 UTSW 15 5,032,231 (GRCm39) missense probably benign 0.00
R9008:C7 UTSW 15 5,040,409 (GRCm39) missense
R9256:C7 UTSW 15 5,023,645 (GRCm39) missense probably damaging 1.00
R9466:C7 UTSW 15 5,044,884 (GRCm39) missense probably benign 0.05
R9562:C7 UTSW 15 5,086,579 (GRCm39) critical splice acceptor site probably null
R9565:C7 UTSW 15 5,086,579 (GRCm39) critical splice acceptor site probably null
R9655:C7 UTSW 15 5,041,464 (GRCm39) missense probably damaging 1.00
R9757:C7 UTSW 15 5,075,134 (GRCm39) missense probably damaging 0.98
Z1177:C7 UTSW 15 5,044,857 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTGATGAAGAGGATCAAGCCCCAC -3'
(R):5'- AGCCTGGCCCAAATTTCCCAAG -3'

Sequencing Primer
(F):5'- CCCCCTCCAGGCCCTAC -3'
(R):5'- GAAAAGTGGCCCCATTTCCTG -3'
Posted On 2013-04-24