Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:C7'

30063

Institutional Source

Beutler Lab

Gene Symbol

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

Chromosomal Location

4988762-5063740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4988962 bp (GRCm38)

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

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

0.0898

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523		probably benign	Het
Ankrd6	T	C	4: 32,836,424	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290	V429A	probably benign	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007	N310K	probably damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Dpp6	T	C	5: 27,652,269	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gm6614	A	C	6: 141,982,327		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184		probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Icam4	A	G	9: 21,029,821	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729	I330T	probably damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795	H99R	probably damaging	Het
Maats1	T	A	16: 38,298,297		probably null	Het
Me3	T	A	7: 89,786,414		probably null	Het
Med13	T	C	11: 86,329,161		probably benign	Het
Myh6	A	T	14: 54,948,347	Y1490*	probably null	Het
Myo10	T	C	15: 25,804,368	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091		noncoding transcript	Het
Nup188	T	G	2: 30,326,479	I765S	probably null	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr348	T	A	2: 36,787,440	M305K	probably benign	Het
Olfr76	G	T	19: 12,119,853	D286E	possibly damaging	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Otogl	T	A	10: 107,770,650		probably benign	Het
Pcnx3	G	A	19: 5,665,583	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761		probably benign	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405		probably benign	Het
Slc23a1	T	A	18: 35,622,979		probably benign	Het
Sparcl1	T	A	5: 104,089,637	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649	C669S	probably damaging	Het
Wdr61	A	T	9: 54,727,578		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	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
R0271:C7	UTSW	15	5015380	missense	possibly damaging	0.81
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

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