Mutagenetix > Incidental Mutations

Incidental Mutation 'R0271:C7'

35324

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

038497-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4988762-5063740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5015380 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 392 (D392G)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110689
AA Change: D392G

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: D392G

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

0.1795

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	T	C	3: 88,686,329		probably benign	Het
4930544D05Rik	A	G	11: 70,616,648	Q173R	possibly damaging	Het
Ampd2	C	T	3: 108,086,716		probably benign	Het
Ankrd17	T	C	5: 90,254,799	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,602,510	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 141,250,607	M542I	probably benign	Het
Ccdc138	G	A	10: 58,575,823	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,111,715	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,257,709		probably null	Het
Cwc22	A	C	2: 77,920,858	N389K	probably benign	Het
Dgkb	T	A	12: 38,228,026	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,615,775	R950G	probably damaging	Het
Eml6	A	G	11: 29,848,949	V437A	possibly damaging	Het
Fanca	T	C	8: 123,272,441		probably benign	Het
Fgd2	C	G	17: 29,367,008	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,943,390	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,920,666	F63S	probably damaging	Het
Gm14496	A	T	2: 181,995,954	M274L	probably benign	Het
Gm7008	T	A	12: 40,223,560		probably benign	Het
Gm9922	T	A	14: 101,729,553		probably benign	Het
Gtf3c3	A	T	1: 54,428,812	M222K	possibly damaging	Het
Hspa1b	A	G	17: 34,958,832	V59A	probably benign	Het
Impg1	T	C	9: 80,386,879		probably benign	Het
Lpcat4	T	A	2: 112,243,245		probably null	Het
Mipol1	T	C	12: 57,460,954		probably benign	Het
Mrpl37	C	A	4: 107,066,461	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,809,685	N1471D	possibly damaging	Het
Nes	G	A	3: 87,978,642	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,361,737	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,161,765	I946V	possibly damaging	Het
Obscn	T	G	11: 59,056,742		probably benign	Het
Olfr1024	A	T	2: 85,904,289	M255K	possibly damaging	Het
Olfr1239	T	A	2: 89,418,158	Y85F	probably benign	Het
Olfr1491	A	T	19: 13,705,135	T103S	probably benign	Het
Olfr635	T	A	7: 103,979,630	I146K	possibly damaging	Het
Pck2	T	C	14: 55,544,584		probably null	Het
Pcsk9	A	G	4: 106,449,049		probably benign	Het
Phyhd1	A	T	2: 30,269,822	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,837,918	G1001S	probably null	Het
Prss52	T	C	14: 64,113,678	V304A	probably benign	Het
Prss55	C	T	14: 64,075,607	G276D	probably benign	Het
Pzp	A	T	6: 128,519,514	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,457		probably null	Het
Ripply3	A	T	16: 94,335,757	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,104,403	D255E	probably benign	Het
Rsad1	T	C	11: 94,548,464		probably benign	Het
Serpini2	A	G	3: 75,246,578	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125	E331V	probably benign	Het
Slc38a7	A	G	8: 95,845,878	F179L	probably damaging	Het
Stmn4	C	T	14: 66,356,283	Q42*	probably null	Het
Sytl2	T	C	7: 90,403,020		probably benign	Het
Tab2	G	A	10: 7,919,158	A520V	probably benign	Het
Tcp10a	A	G	17: 7,331,156	I162M	probably benign	Het
Tmprss13	A	G	9: 45,333,688		probably benign	Het
Tnfrsf14	A	G	4: 154,926,597		probably null	Het
Tpx2	A	G	2: 152,867,367		probably benign	Het
Vmn2r105	T	A	17: 20,234,703	N57I	probably damaging	Het
Wars	C	T	12: 108,875,193	V220I	probably benign	Het
Washc1	T	A	17: 66,116,719	D212E	possibly damaging	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,626,825	D139G	probably benign	Het
Zfp235	A	T	7: 24,137,131	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391	V230I	probably benign	Het

Other mutations in C7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:C7	APN	15	5059389	splice site	probably benign
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
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
Z1177:C7	UTSW	15	5015375	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGGGACTCGGAAAATGATAATTGCAGC -3'
(R):5'- GGTTTGCTTTTCTCAAGACGCCATAG -3'

Sequencing Primer
(F):5'- GCAGCCAATTCTGTTTAATCACC -3'
(R):5'- CTCAAGACGCCATAGTTTGATG -3'

Posted On

2013-05-09