Mutagenetix > Incidental Mutation

Incidental Mutation 'R1468:C7'

197758

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

039521-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1468 (G1)

Quality Score

220

Status

Validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5041631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 425 (Y425F)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110689]

AlphaFold

D3YXF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110689
AA Change: Y425F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: Y425F

Domain	Start	End	E-Value	Type
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

0.5256

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

98% (106/108)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	T	G	7: 12,246,507 (GRCm39)	M1R	probably null	Het
4933440N22Rik	C	A	6: 117,884,540 (GRCm39)		probably benign	Het
5031439G07Rik	G	T	15: 84,837,345 (GRCm39)	P280T	probably damaging	Het
Abca2	C	T	2: 25,331,308 (GRCm39)	S1267L	probably damaging	Het
Acsl3	A	T	1: 78,684,126 (GRCm39)	R719S	probably benign	Het
Adam1a	A	T	5: 121,657,839 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,070,851 (GRCm39)		probably benign	Het
Adgrf3	G	A	5: 30,407,227 (GRCm39)		probably benign	Het
Aldh6a1	T	C	12: 84,488,544 (GRCm39)	E89G	possibly damaging	Het
Ankrd36	A	G	11: 5,525,752 (GRCm39)	Y238C	probably damaging	Het
Ankrd65	G	A	4: 155,877,362 (GRCm39)	R291Q	probably benign	Het
Ano2	C	T	6: 125,773,227 (GRCm39)	R287W	probably damaging	Het
Ap1ar	A	G	3: 127,606,215 (GRCm39)	I125T	probably benign	Het
Arid1b	A	G	17: 5,293,197 (GRCm39)	D705G	probably damaging	Het
Asb18	T	A	1: 89,924,005 (GRCm39)	N86I	probably damaging	Het
Bicral	A	T	17: 47,135,519 (GRCm39)	S564T	probably benign	Het
Bpifa6	A	G	2: 153,831,192 (GRCm39)	M253V	probably benign	Het
Braf	T	C	6: 39,642,017 (GRCm39)	D194G	probably damaging	Het
Brinp3	C	A	1: 146,777,700 (GRCm39)	P716T	probably benign	Het
Ccdc102a	T	C	8: 95,632,714 (GRCm39)	K421R	probably benign	Het
Cep89	G	A	7: 35,120,388 (GRCm39)		probably null	Het
Chgb	A	T	2: 132,634,720 (GRCm39)	M221L	probably benign	Het
Chst14	A	G	2: 118,758,145 (GRCm39)	Y313C	probably damaging	Het
Ciita	G	A	16: 10,331,152 (GRCm39)		probably null	Het
Clec12b	A	T	6: 129,357,603 (GRCm39)	I85N	probably damaging	Het
Clec2e	G	T	6: 129,070,459 (GRCm39)	Y187*	probably null	Het
Crbn	T	C	6: 106,767,804 (GRCm39)	K229E	probably benign	Het
Ctdspl2	A	T	2: 121,811,762 (GRCm39)	Q201L	probably benign	Het
Ctrb1	G	T	8: 112,416,041 (GRCm39)		probably benign	Het
Cyp2c55	T	A	19: 38,999,525 (GRCm39)	V77E	probably damaging	Het
Cyp2c69	A	C	19: 39,837,839 (GRCm39)	D414E	probably damaging	Het
Ddx47	T	C	6: 134,988,703 (GRCm39)		probably benign	Het
Dlg1	A	G	16: 31,661,640 (GRCm39)		probably null	Het
Dnah5	C	A	15: 28,230,609 (GRCm39)	S169*	probably null	Het
Dock4	C	A	12: 40,805,809 (GRCm39)	T927K	probably benign	Het
Esrp2	T	G	8: 106,860,453 (GRCm39)	D259A	probably damaging	Het
Fam169a	A	G	13: 97,255,038 (GRCm39)	K418R	probably benign	Het
Fancm	A	T	12: 65,146,067 (GRCm39)	I597F	probably damaging	Het
Fastkd2	G	T	1: 63,771,385 (GRCm39)		probably benign	Het
Fat1	G	A	8: 45,463,582 (GRCm39)	V1375M	probably damaging	Het
Fbxw10	A	T	11: 62,753,464 (GRCm39)	D486V	probably damaging	Het
Fech	C	T	18: 64,603,744 (GRCm39)		probably benign	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Foxp1	T	A	6: 98,955,181 (GRCm39)	H195L	possibly damaging	Het
Gfra1	T	A	19: 58,440,407 (GRCm39)	I138L	probably benign	Het
Gm12185	T	C	11: 48,806,501 (GRCm39)	D230G	possibly damaging	Het
Gm14403	T	A	2: 177,199,024 (GRCm39)		probably benign	Het
Gpd2	A	C	2: 57,245,786 (GRCm39)	T439P	probably damaging	Het
Gpm6a	A	T	8: 55,490,385 (GRCm39)	K20N	probably damaging	Het
Hc	A	T	2: 34,873,819 (GRCm39)	Y158*	probably null	Het
Hectd4	A	T	5: 121,487,235 (GRCm39)	D3410V	possibly damaging	Het
Il17b	G	A	18: 61,823,483 (GRCm39)		probably null	Het
Irx4	G	T	13: 73,413,695 (GRCm39)	R55L	possibly damaging	Het
Itgav	A	T	2: 83,596,245 (GRCm39)		probably benign	Het
Lama3	T	C	18: 12,574,164 (GRCm39)	V582A	probably benign	Het
Ldhd	G	T	8: 112,353,925 (GRCm39)	A425E	possibly damaging	Het
Lrp1b	C	T	2: 40,817,841 (GRCm39)		probably null	Het
Lrp5	T	C	19: 3,670,191 (GRCm39)	T638A	possibly damaging	Het
Lrrk1	A	C	7: 65,909,722 (GRCm39)	F1996C	probably damaging	Het
Ly6h	G	A	15: 75,437,986 (GRCm39)	S21L	probably benign	Het
Mctp1	T	C	13: 76,973,392 (GRCm39)	V431A	probably benign	Het
Metap2	C	T	10: 93,707,345 (GRCm39)		probably null	Het
Mfsd2b	T	A	12: 4,920,536 (GRCm39)	K94*	probably null	Het
Micall2	A	G	5: 139,705,097 (GRCm39)	L79P	probably damaging	Het
Mucl2	T	C	15: 103,927,673 (GRCm39)	T95A	possibly damaging	Het
Myo15a	A	T	11: 60,396,832 (GRCm39)	T2634S	probably damaging	Het
Myo5b	G	T	18: 74,873,574 (GRCm39)	V1467L	probably damaging	Het
Nfic	G	T	10: 81,256,414 (GRCm39)	D105E	probably damaging	Het
Nrdc	T	A	4: 108,873,865 (GRCm39)	F227Y	probably benign	Het
Nrp2	A	T	1: 62,777,458 (GRCm39)	I88F	probably damaging	Het
Nup160	A	T	2: 90,530,887 (GRCm39)	H515L	probably benign	Het
Nup205	G	A	6: 35,202,917 (GRCm39)		probably null	Het
Oas1g	G	A	5: 121,020,069 (GRCm39)	T179I	probably benign	Het
Ogfr	A	T	2: 180,236,543 (GRCm39)	E376V	probably damaging	Het
Or2l13	T	G	16: 19,306,378 (GRCm39)	S263R	probably benign	Het
Or4a69	A	T	2: 89,312,855 (GRCm39)	V208D	possibly damaging	Het
Or4c107	T	G	2: 88,789,387 (GRCm39)	Y192*	probably null	Het
Or52d1	G	T	7: 103,755,896 (GRCm39)	V137F	possibly damaging	Het
Or5p6	C	T	7: 107,631,595 (GRCm39)		probably null	Het
Pard3b	T	C	1: 62,384,188 (GRCm39)	V851A	probably benign	Het
Pcdhb16	A	T	18: 37,611,142 (GRCm39)	Y34F	probably damaging	Het
Pikfyve	T	C	1: 65,290,825 (GRCm39)	Y1215H	probably damaging	Het
Pkhd1	A	T	1: 20,593,565 (GRCm39)	V1516E	probably damaging	Het
Pla2g4a	A	T	1: 149,763,344 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,190,767 (GRCm38)	I818F	probably benign	Het
Ralgapb	A	G	2: 158,304,173 (GRCm39)	E644G	possibly damaging	Het
Rbm45	A	G	2: 76,202,459 (GRCm39)	I127M	probably damaging	Het
Rtp2	T	C	16: 23,746,220 (GRCm39)	Y157C	probably damaging	Het
Sema3f	A	T	9: 107,564,771 (GRCm39)		probably benign	Het
Sf3b3	A	T	8: 111,564,006 (GRCm39)	Y329N	probably damaging	Het
Sfxn1	A	G	13: 54,239,646 (GRCm39)		probably null	Het
Shkbp1	A	T	7: 27,044,751 (GRCm39)	C447S	probably damaging	Het
Sipa1l3	A	G	7: 29,021,685 (GRCm39)	S689P	possibly damaging	Het
Slc7a8	A	G	14: 54,970,656 (GRCm39)	S332P	probably damaging	Het
Slit1	C	A	19: 41,596,823 (GRCm39)	C1092F	probably damaging	Het
Slx9	A	G	10: 77,333,360 (GRCm39)		probably benign	Het
Stard9	A	G	2: 120,533,678 (GRCm39)	I619V	possibly damaging	Het
Sycp3	T	C	10: 88,305,454 (GRCm39)	V185A	possibly damaging	Het
Taar9	A	T	10: 23,985,382 (GRCm39)	N17K	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,814 (GRCm39)	E102G	probably damaging	Het
Tex44	A	G	1: 86,354,834 (GRCm39)	N248D	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Tnpo1	C	T	13: 98,986,665 (GRCm39)	V781I	probably benign	Het
Tonsl	C	T	15: 76,520,761 (GRCm39)		probably null	Het
Ttc6	A	G	12: 57,721,463 (GRCm39)	K984R	possibly damaging	Het
Usp34	A	G	11: 23,391,171 (GRCm39)	E2263G	probably damaging	Het
Usp8	A	G	2: 126,596,847 (GRCm39)	K875E	probably damaging	Het
Vapb	C	T	2: 173,603,905 (GRCm39)		probably benign	Het
Vmn1r223	A	G	13: 23,434,038 (GRCm39)	I211V	possibly damaging	Het
Vmn2r81	G	A	10: 79,129,496 (GRCm39)	V796I	probably damaging	Het
Wdr90	A	T	17: 26,073,027 (GRCm39)	V856D	probably damaging	Het
Wnk2	T	A	13: 49,235,571 (GRCm39)	T615S	probably damaging	Het

Other mutations in C7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0360:C7	UTSW	15	5,018,444 (GRCm39)	missense	probably benign	0.00
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
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'- TGAGCGAAAACCTATCATGCTGACC -3'
(R):5'- TTTGGGGACAGTCTGGAGGCATAC -3'

Sequencing Primer
(F):5'- TTGATCGCCGACAAGGACTC -3'
(R):5'- gACAGTCTGGAGGCATACATACATAG -3'

Posted On

2014-05-23