Mutagenetix > Incidental Mutation

Incidental Mutation 'R5300:C7'

405616

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

042883-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 5061432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 306 (G306W)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083780

Predicted Effect

probably damaging
Transcript: ENSMUST00000110689
AA Change: G306W

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

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: G306W

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

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank1	A	G	8: 23,622,517 (GRCm39)	K1644E	probably benign	Het
Ccdc185	A	G	1: 182,575,645 (GRCm39)	V348A	probably benign	Het
Cfap58	A	T	19: 47,929,595 (GRCm39)	I19F	probably benign	Het
Dnaaf2	C	G	12: 69,245,002 (GRCm39)	V20L	probably damaging	Het
Dpy19l3	A	G	7: 35,426,735 (GRCm39)	Y58H	probably damaging	Het
Dsc1	T	C	18: 20,227,917 (GRCm39)	S480G	probably damaging	Het
Eno4	G	A	19: 58,943,982 (GRCm39)		probably null	Het
Gm136	T	G	4: 34,750,930 (GRCm39)	K114N	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc37a	T	A	11: 103,347,784 (GRCm39)	L2970F	unknown	Het
Ly86	C	T	13: 37,602,588 (GRCm39)	T160I	probably benign	Het
Mfsd4b1	A	C	10: 39,879,027 (GRCm39)	F290C	probably benign	Het
Minar1	A	T	9: 89,485,252 (GRCm39)	S48R	probably damaging	Het
Nbeal1	T	G	1: 60,274,718 (GRCm39)	Y376*	probably null	Het
Nipbl	A	T	15: 8,380,981 (GRCm39)	S604T	probably benign	Het
Pml	A	C	9: 58,154,302 (GRCm39)	N190K	probably damaging	Het
Rin3	C	A	12: 102,335,929 (GRCm39)	F533L	probably benign	Het
Scamp1	A	G	13: 94,340,670 (GRCm39)	V233A	probably damaging	Het
Sppl2c	A	T	11: 104,077,901 (GRCm39)	N234Y	possibly damaging	Het
Tfap2b	A	G	1: 19,298,677 (GRCm39)	K278R	probably damaging	Het
Tg	A	G	15: 66,550,704 (GRCm39)	Y278C	probably damaging	Het
Trdn	A	G	10: 33,071,978 (GRCm39)	E215G	probably damaging	Het
Tssk6	T	C	8: 70,355,285 (GRCm39)	S110P	probably benign	Het
Vmn2r15	A	T	5: 109,441,974 (GRCm39)	L153Q	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp667	A	G	7: 6,307,635 (GRCm39)	H101R	probably benign	Het
Zfp772	A	T	7: 7,207,157 (GRCm39)	M178K	probably benign	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
R4995:C7	UTSW	15	5,079,074 (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'- GATGCCTGCAATTTTGGACTC -3'
(R):5'- TCATCATGACGGATAGGGAAAC -3'

Sequencing Primer
(F):5'- GGACTCCTCTGCAATTTAAATCTC -3'
(R):5'- CCAGAAGAGTTATAAATTGTTGGTTG -3'

Posted On

2016-07-22