Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:C7'

203170

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

039831-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 5041503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 468 (V468I)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110689
AA Change: V468I

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: V468I

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: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,230 (GRCm39)	E362G	probably damaging	Het
Abcc5	T	C	16: 20,157,637 (GRCm39)	M1307V	probably benign	Het
Adam34l	A	T	8: 44,078,954 (GRCm39)	C423*	probably null	Het
Adamts9	A	G	6: 92,840,357 (GRCm39)	V1142A	probably benign	Het
Ano10	T	C	9: 122,082,096 (GRCm39)	N525S	probably damaging	Het
Bpifa2	T	C	2: 153,853,424 (GRCm39)		probably null	Het
Carf	A	T	1: 60,180,664 (GRCm39)	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,465,132 (GRCm39)	I37L	probably benign	Het
Ccdc182	T	C	11: 88,185,016 (GRCm39)	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,711,825 (GRCm39)	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,790,065 (GRCm39)	Y920F	unknown	Het
Cpsf3	T	C	12: 21,363,791 (GRCm39)	V627A	probably benign	Het
D7Ertd443e	A	G	7: 133,871,941 (GRCm39)	M640T	probably damaging	Het
Ddi2	T	C	4: 141,411,283 (GRCm39)	D543G	probably damaging	Het
Dnah9	T	C	11: 65,846,123 (GRCm39)	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,813,857 (GRCm39)	D304G	probably damaging	Het
Epg5	T	C	18: 78,026,705 (GRCm39)	V1232A	possibly damaging	Het
Ezr	T	C	17: 7,009,771 (GRCm39)	T358A	possibly damaging	Het
Filip1	A	G	9: 79,723,128 (GRCm39)	S1164P	probably damaging	Het
Gmip	T	C	8: 70,267,127 (GRCm39)	V341A	probably benign	Het
Gnb3	A	C	6: 124,812,599 (GRCm39)	F286V	probably benign	Het
Gpatch2	T	A	1: 186,958,028 (GRCm39)	S128T	probably benign	Het
Gpr87	T	C	3: 59,086,813 (GRCm39)	R231G	possibly damaging	Het
Hip1r	G	A	5: 124,136,871 (GRCm39)	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,402,206 (GRCm39)	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,517,625 (GRCm39)	D275V	probably damaging	Het
Il4	G	T	11: 53,509,365 (GRCm39)	H23Q	possibly damaging	Het
Kit	A	G	5: 75,809,053 (GRCm39)	Y749C	probably damaging	Het
Klb	A	G	5: 65,506,578 (GRCm39)	K275R	probably null	Het
Klhl12	G	T	1: 134,416,808 (GRCm39)	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,628,689 (GRCm39)	Y345C	probably damaging	Het
Med15	T	C	16: 17,498,599 (GRCm39)	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,391 (GRCm39)	Y387N	probably damaging	Het
Myrf	C	A	19: 10,191,555 (GRCm39)	V928L	probably benign	Het
Nr1d1	T	C	11: 98,662,325 (GRCm39)	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,250,356 (GRCm39)	D305V	probably damaging	Het
Obscn	A	C	11: 58,889,147 (GRCm39)	S7542A	unknown	Het
Or4a27	T	A	2: 88,559,608 (GRCm39)	I112F	probably damaging	Het
Pak4	G	A	7: 28,264,615 (GRCm39)	R96C	probably damaging	Het
Pde6b	A	T	5: 108,575,713 (GRCm39)	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,221,601 (GRCm39)	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,740 (GRCm39)	V873I	possibly damaging	Het
Plb1	A	T	5: 32,450,587 (GRCm39)	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,913,904 (GRCm39)	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,393,885 (GRCm39)	C263R	probably damaging	Het
Psma2	A	T	13: 14,798,190 (GRCm39)	Y104F	probably benign	Het
Ptger4	T	A	15: 5,272,281 (GRCm39)	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,006,201 (GRCm39)	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,592,090 (GRCm39)	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,822,188 (GRCm39)	L102P	probably damaging	Het
Ryr2	T	C	13: 11,610,167 (GRCm39)	S655G	probably benign	Het
Samd4b	A	T	7: 28,106,756 (GRCm39)		probably null	Het
Sema4a	C	T	3: 88,344,056 (GRCm39)	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sh3gl3	C	T	7: 81,933,327 (GRCm39)	T230I	possibly damaging	Het
Slc28a2b	C	T	2: 122,352,133 (GRCm39)	R324C	possibly damaging	Het
Slc5a1	A	T	5: 33,304,297 (GRCm39)	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,939,606 (GRCm39)	H681N	probably benign	Het
Sugp2	T	C	8: 70,689,360 (GRCm39)	S10P	possibly damaging	Het
Supt5	A	G	7: 28,016,639 (GRCm39)		probably null	Het
Syna	A	G	5: 134,588,943 (GRCm39)	V2A	probably benign	Het
Tcp1	T	A	17: 13,141,089 (GRCm39)	Y299*	probably null	Het
Tenm3	C	A	8: 48,729,291 (GRCm39)	V1572L	probably benign	Het
Tent4b	T	G	8: 88,977,416 (GRCm39)	V406G	probably benign	Het
Trp53rka	A	G	2: 165,333,533 (GRCm39)	S119P	probably damaging	Het
Ubr4	T	A	4: 139,179,874 (GRCm39)		probably null	Het
Uchl4	T	A	9: 64,142,757 (GRCm39)	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,576,344 (GRCm39)	T405K	probably damaging	Het
Xpnpep1	A	G	19: 52,998,564 (GRCm39)	L228P	probably damaging	Het
Xrcc4	T	G	13: 90,140,698 (GRCm39)	E170D	probably damaging	Het
Zfp945	T	C	17: 23,070,736 (GRCm39)	T388A	probably damaging	Het
Zfp947	G	A	17: 22,365,443 (GRCm39)	A77V	probably benign	Het
Zkscan5	G	A	5: 145,157,015 (GRCm39)	G433R	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
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
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'- CTCAGAAGCTACGATGTGGAG -3'
(R):5'- TCGGAGTCCTGACTGACTTC -3'

Sequencing Primer
(F):5'- TGGAGTTCAAACACAGCTTCACTTC -3'
(R):5'- GGAGTCCTGACTGACTTCTTTTC -3'

Posted On

2014-06-23