Mutagenetix > Incidental Mutation

Incidental Mutation 'R4995:C7'

385207

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

042589-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4995 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5079074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 78 (G78D)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110689
AA Change: G78D

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

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: G78D

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (86/87)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	G	A	2: 19,498,995 (GRCm39)	Q333*	probably null	Het
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acvrl1	G	A	15: 101,033,741 (GRCm39)	R141H	probably benign	Het
Adprm	A	G	11: 66,932,436 (GRCm39)	F158L	possibly damaging	Het
Aldoart2	C	T	12: 55,613,038 (GRCm39)	T321M	probably benign	Het
Ap3m2	A	G	8: 23,293,792 (GRCm39)	V86A	probably benign	Het
Arhgef19	T	A	4: 140,974,826 (GRCm39)		probably null	Het
Bcl2l12	T	G	7: 44,643,615 (GRCm39)		probably null	Het
Bptf	T	C	11: 106,945,391 (GRCm39)	Q2501R	probably damaging	Het
C230029F24Rik	A	T	1: 49,377,295 (GRCm39)		noncoding transcript	Het
Caly	T	C	7: 139,650,538 (GRCm39)	T135A	probably benign	Het
Cbl	A	G	9: 44,065,108 (GRCm39)	M740T	possibly damaging	Het
Cbx4	A	G	11: 118,972,037 (GRCm39)	V446A	probably benign	Het
Celsr1	C	A	15: 85,822,112 (GRCm39)	R1735L	probably damaging	Het
Cep250	A	G	2: 155,830,236 (GRCm39)	D135G	probably damaging	Het
Cgn	T	C	3: 94,687,246 (GRCm39)	T19A	probably damaging	Het
Chic2	A	T	5: 75,204,865 (GRCm39)	V32D	probably damaging	Het
Cntln	A	G	4: 84,968,120 (GRCm39)	K780E	probably benign	Het
Col8a2	A	T	4: 126,204,581 (GRCm39)	D197V	probably damaging	Het
Crot	A	T	5: 9,024,000 (GRCm39)	V372E	probably damaging	Het
Cyb561d2	C	T	9: 107,418,747 (GRCm39)	V26M	probably damaging	Het
Ddx5	G	A	11: 106,676,062 (GRCm39)	T237I	probably damaging	Het
Dmxl2	G	T	9: 54,408,725 (GRCm39)		probably benign	Het
Dock8	T	A	19: 25,135,747 (GRCm39)	S1188R	probably benign	Het
Ehbp1	T	A	11: 22,051,073 (GRCm39)	H493L	probably damaging	Het
Eif5b	T	A	1: 38,090,792 (GRCm39)	*1217K	probably null	Het
Eprs1	A	G	1: 185,142,336 (GRCm39)		probably benign	Het
Etfdh	T	C	3: 79,513,095 (GRCm39)	D376G	probably benign	Het
Fam186a	T	C	15: 99,842,980 (GRCm39)	Q1088R	probably benign	Het
Fbxw16	G	T	9: 109,270,318 (GRCm39)	T141N	probably damaging	Het
Fgf11	G	A	11: 69,689,585 (GRCm39)	H138Y	probably damaging	Het
Htra3	T	C	5: 35,828,418 (GRCm39)	E154G	probably damaging	Het
Hydin	T	A	8: 111,296,274 (GRCm39)	V3601D	probably damaging	Het
Jup	G	T	11: 100,270,367 (GRCm39)	S380*	probably null	Het
Klrg1	T	A	6: 122,255,234 (GRCm39)	D66V	probably benign	Het
Llgl1	C	T	11: 60,600,550 (GRCm39)	A633V	probably benign	Het
Lmln	T	A	16: 32,894,467 (GRCm39)	Y203*	probably null	Het
Lrrc58	T	G	16: 37,697,418 (GRCm39)	C165G	probably benign	Het
Lss	T	C	10: 76,383,371 (GRCm39)	V557A	probably benign	Het
Mast4	T	C	13: 103,042,262 (GRCm39)		probably benign	Het
Med13l	C	A	5: 118,869,014 (GRCm39)	P754Q	possibly damaging	Het
Mga	C	T	2: 119,763,063 (GRCm39)	R1240*	probably null	Het
Mgat5b	T	A	11: 116,865,025 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,610,209 (GRCm39)	D1572G	probably damaging	Het
Muc4	T	A	16: 32,754,214 (GRCm38)	S1363T	probably benign	Het
Muc4	T	A	16: 32,575,332 (GRCm39)	S1306T	probably benign	Het
Myo18b	A	G	5: 112,908,258 (GRCm39)	V2005A	probably damaging	Het
Myo1e	G	A	9: 70,260,554 (GRCm39)	D571N	probably benign	Het
Mypn	T	C	10: 62,955,747 (GRCm39)		probably null	Het
Ndufb10	T	C	17: 24,941,731 (GRCm39)		probably null	Het
Nelfb	G	T	2: 25,096,208 (GRCm39)	D300E	probably benign	Het
Nicol1	G	A	5: 34,142,270 (GRCm39)	R79H	probably damaging	Het
Odad2	G	A	18: 7,223,663 (GRCm39)	T460M	probably damaging	Het
Or2y1d	T	A	11: 49,321,482 (GRCm39)	Y60N	probably damaging	Het
Or4e5	A	T	14: 52,727,988 (GRCm39)	C61*	probably null	Het
Or52n2c	T	A	7: 104,574,942 (GRCm39)	T10S	probably benign	Het
Or52z15	T	A	7: 103,332,574 (GRCm39)	D206E	probably damaging	Het
Pcdha11	C	T	18: 37,144,080 (GRCm39)	T57M	probably benign	Het
Pkp1	A	T	1: 135,808,593 (GRCm39)	I458N	possibly damaging	Het
Prr12	T	A	7: 44,700,653 (GRCm39)		probably benign	Het
Prrc2c	A	T	1: 162,532,879 (GRCm39)		probably benign	Het
Psd4	T	C	2: 24,287,259 (GRCm39)	F397S	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rfx1	T	A	8: 84,806,743 (GRCm39)		probably null	Het
Rsl1	A	G	13: 67,330,313 (GRCm39)	T254A	possibly damaging	Het
Sh3rf3	A	G	10: 58,922,646 (GRCm39)	Q574R	probably benign	Het
Spire1	T	C	18: 67,685,849 (GRCm39)		probably null	Het
St6galnac4	G	A	2: 32,484,075 (GRCm39)	G91D	probably damaging	Het
Sytl2	T	C	7: 90,031,465 (GRCm39)		probably benign	Het
Tbpl2	T	A	2: 23,983,872 (GRCm39)	K188N	possibly damaging	Het
Tenm3	A	T	8: 48,682,172 (GRCm39)	M2486K	possibly damaging	Het
Tgoln1	A	C	6: 72,593,123 (GRCm39)	V119G	possibly damaging	Het
Tpgs1	A	T	10: 79,505,325 (GRCm39)	N28Y	probably benign	Het
U2surp	A	C	9: 95,344,847 (GRCm39)		probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Vmn2r19	A	G	6: 123,306,869 (GRCm39)	N459S	probably benign	Het
Vmn2r72	T	C	7: 85,387,693 (GRCm39)	S624G	probably damaging	Het
Vps13c	A	G	9: 67,826,603 (GRCm39)	T1415A	probably benign	Het
Vwa5b1	G	A	4: 138,336,154 (GRCm39)	P147S	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
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
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'- AATGGACGGTATCTACTATGTGG -3'
(R):5'- GAACATGTTCTCGGAAAGTGC -3'

Sequencing Primer
(F):5'- GGACGGTATCTACTATGTGGTTTATC -3'
(R):5'- ACATGTTCTCGGAAAGTGCTTTTTAG -3'

Posted On

2016-05-10