Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:C7'

294536

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

4988762-5063740 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 5059389 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

probably benign
Transcript: ENSMUST00000110689

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105

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

Coding Region Coverage

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tango2	A	T	16: 18,310,867		probably null	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in C7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02803:C7	APN	15	5049560	missense	probably damaging	1.00
R0016:C7	UTSW	15	5046924	missense	probably benign	0.01
R0016:C7	UTSW	15	5046924	missense	probably benign	0.01
R0271:C7	UTSW	15	5015380	missense	possibly damaging	0.81
R0360:C7	UTSW	15	4988962	missense	probably benign	0.00
R0433:C7	UTSW	15	4988916	missense	probably damaging	1.00
R0505:C7	UTSW	15	4994142	splice site	probably benign
R1056:C7	UTSW	15	5045778	missense	possibly damaging	0.89
R1443:C7	UTSW	15	5059419	missense	probably benign	0.01
R1468:C7	UTSW	15	5012149	missense	probably damaging	1.00
R1468:C7	UTSW	15	5012149	missense	probably damaging	1.00
R1700:C7	UTSW	15	5002792	nonsense	probably null
R1774:C7	UTSW	15	5012075	missense	probably damaging	0.99
R1801:C7	UTSW	15	5012021	missense	possibly damaging	0.61
R1809:C7	UTSW	15	5034339	missense	probably damaging	0.99
R1986:C7	UTSW	15	5012012	missense	possibly damaging	0.94
R2037:C7	UTSW	15	5034238	nonsense	probably null
R2047:C7	UTSW	15	5045661	missense	probably damaging	1.00
R2073:C7	UTSW	15	4990428	missense	probably benign	0.09
R3972:C7	UTSW	15	5007651	missense	possibly damaging	0.77
R4080:C7	UTSW	15	4990464	missense	probably benign	0.09
R4200:C7	UTSW	15	4990309	critical splice donor site	probably null
R4576:C7	UTSW	15	5002756	missense	probably damaging	1.00
R4815:C7	UTSW	15	5059405	missense	probably benign	0.16
R4995:C7	UTSW	15	5049592	missense	probably damaging	1.00
R5300:C7	UTSW	15	5031950	missense	probably damaging	1.00
R5562:C7	UTSW	15	5031915	nonsense	probably null
R5708:C7	UTSW	15	5015401	missense	possibly damaging	0.90
R5740:C7	UTSW	15	5057040	missense	probably benign	0.00
R5873:C7	UTSW	15	5005235	missense	probably damaging	1.00
R6222:C7	UTSW	15	5011941	missense	possibly damaging	0.89
R6516:C7	UTSW	15	5057081	missense	probably damaging	0.98
R6810:C7	UTSW	15	5007654	missense	probably damaging	0.98
R7019:C7	UTSW	15	5045682	missense	probably benign	0.04
R7199:C7	UTSW	15	4994243	missense	probably benign	0.09
R7276:C7	UTSW	15	5011967	missense	probably damaging	1.00
R7422:C7	UTSW	15	5012056	missense	probably benign	0.13
R7652:C7	UTSW	15	5012105	missense	probably damaging	1.00
R7783:C7	UTSW	15	5007710	missense	probably benign	0.08
R8266:C7	UTSW	15	5007659	missense	probably damaging	0.99
R8295:C7	UTSW	15	4988845	missense	probably damaging	1.00
R8848:C7	UTSW	15	5059429	missense	probably damaging	0.96
R8951:C7	UTSW	15	5002749	missense	probably benign	0.00
R9008:C7	UTSW	15	5010927	missense
R9256:C7	UTSW	15	4994163	missense	probably damaging	1.00
R9466:C7	UTSW	15	5015402	missense	probably benign	0.05
R9562:C7	UTSW	15	5057097	critical splice acceptor site	probably null
R9565:C7	UTSW	15	5057097	critical splice acceptor site	probably null
R9655:C7	UTSW	15	5011982	missense	probably damaging	1.00
R9757:C7	UTSW	15	5045652	missense	probably damaging	0.98
Z1177:C7	UTSW	15	5015375	missense	probably benign	0.05

Posted On

2015-04-16