Mutagenetix > Incidental Mutation

Incidental Mutation 'R0433:C7'

38964

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

038635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0433 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 5018398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 815 (T815K)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110689
AA Change: T815K

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

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: T815K

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

0.1851

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 94.3%

Validation Efficiency

99% (108/109)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,636 (GRCm39)	V199A	possibly damaging	Het
Abcb5	T	C	12: 118,841,545 (GRCm39)	M967V	probably benign	Het
Adcy10	T	A	1: 165,379,591 (GRCm39)	L951Q	probably damaging	Het
Amer2	A	T	14: 60,616,032 (GRCm39)	S76C	probably damaging	Het
Atad1	T	C	19: 32,675,877 (GRCm39)	I182M	probably benign	Het
Bpi	A	G	2: 158,100,339 (GRCm39)	D42G	probably damaging	Het
Cacna1g	T	A	11: 94,350,033 (GRCm39)	D604V	probably benign	Het
Camk1g	A	G	1: 193,036,366 (GRCm39)	F165L	probably damaging	Het
Ccdc69	C	T	11: 54,943,716 (GRCm39)		probably null	Het
Ccser2	A	C	14: 36,640,486 (GRCm39)	F37L	probably damaging	Het
Cfap43	A	G	19: 47,814,210 (GRCm39)	F208S	probably benign	Het
Cfap54	G	A	10: 92,814,942 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,699,853 (GRCm39)	D62E	probably damaging	Het
Cnksr2	A	T	X: 156,671,554 (GRCm39)	M483K	probably benign	Het
Cnksr2	C	A	X: 156,671,553 (GRCm39)	M483I	probably benign	Het
Cog8	T	C	8: 107,783,110 (GRCm39)	S60G	possibly damaging	Het
Col4a3	C	T	1: 82,647,940 (GRCm39)	P484S	unknown	Het
Col6a4	C	T	9: 105,945,193 (GRCm39)	G974R	probably damaging	Het
Cplane1	T	C	15: 8,246,046 (GRCm39)	S1473P	probably benign	Het
Dbnl	T	G	11: 5,746,825 (GRCm39)		probably null	Het
Dhcr7	T	C	7: 143,394,200 (GRCm39)	C114R	possibly damaging	Het
Dnah2	C	A	11: 69,350,114 (GRCm39)	D2340Y	probably damaging	Het
Dnai4	T	C	4: 102,960,450 (GRCm39)	N67D	probably benign	Het
Dusp10	T	A	1: 183,801,393 (GRCm39)	Y387N	probably damaging	Het
Eipr1	C	T	12: 28,909,330 (GRCm39)	T199I	possibly damaging	Het
Emc2	T	G	15: 43,360,520 (GRCm39)		probably null	Het
Enpp3	A	G	10: 24,696,495 (GRCm39)	S147P	probably benign	Het
Fam133b	T	A	5: 3,608,560 (GRCm39)		probably benign	Het
Fat1	C	A	8: 45,477,686 (GRCm39)	T2244K	possibly damaging	Het
Fbn1	A	G	2: 125,190,135 (GRCm39)	S1453P	possibly damaging	Het
Fez2	A	T	17: 78,725,476 (GRCm39)	F13I	probably damaging	Het
Ggnbp2	T	C	11: 84,727,246 (GRCm39)	K530R	probably damaging	Het
Gpa33	T	C	1: 165,991,330 (GRCm39)		probably benign	Het
Gpr142	T	C	11: 114,696,823 (GRCm39)	I123T	probably damaging	Het
Il21	T	G	3: 37,286,684 (GRCm39)	I11L	possibly damaging	Het
Klhl7	A	G	5: 24,332,700 (GRCm39)	E86G	probably damaging	Het
Klk10	G	T	7: 43,430,989 (GRCm39)	A11S	possibly damaging	Het
Knl1	A	T	2: 118,934,542 (GRCm39)	D2115V	probably damaging	Het
Lonp2	A	G	8: 87,360,582 (GRCm39)	D185G	probably damaging	Het
Lrrc47	T	C	4: 154,102,822 (GRCm39)		probably benign	Het
Lrrcc1	A	G	3: 14,624,434 (GRCm39)	I698V	probably damaging	Het
Lzts2	T	C	19: 45,010,115 (GRCm39)	V83A	possibly damaging	Het
Melk	C	A	4: 44,340,614 (GRCm39)		probably benign	Het
Mical1	G	A	10: 41,355,486 (GRCm39)	V150I	probably benign	Het
Morn3	C	A	5: 123,177,396 (GRCm39)	M129I	probably benign	Het
Mroh2b	T	A	15: 4,971,116 (GRCm39)	D1040E	probably benign	Het
Mroh5	T	C	15: 73,661,877 (GRCm39)	N438S	probably benign	Het
Mroh5	T	A	15: 73,662,657 (GRCm39)	Q387L	probably damaging	Het
Myh15	A	G	16: 48,965,599 (GRCm39)	D1168G	probably damaging	Het
Nek10	A	G	14: 14,860,927 (GRCm38)	E493G	probably benign	Het
Nipsnap3a	A	G	4: 53,000,316 (GRCm39)	Y227C	probably damaging	Het
Nlrp9c	T	A	7: 26,085,244 (GRCm39)	T112S	probably benign	Het
Nphp4	T	C	4: 152,602,629 (GRCm39)	V401A	probably benign	Het
Nr1h2	A	G	7: 44,199,411 (GRCm39)	*365Q	probably null	Het
Or13p5	T	C	4: 118,592,287 (GRCm39)	V187A	probably benign	Het
Or5p54	T	C	7: 107,554,469 (GRCm39)	I207T	probably damaging	Het
Pacs2	T	A	12: 113,020,464 (GRCm39)	V279D	possibly damaging	Het
Pdcd2	C	T	17: 15,746,646 (GRCm39)	C171Y	probably benign	Het
Pde11a	T	A	2: 76,168,050 (GRCm39)	D301V	possibly damaging	Het
Pfpl	T	G	19: 12,406,839 (GRCm39)	N363K	probably damaging	Het
Phf14	T	A	6: 11,933,742 (GRCm39)	S201R	probably damaging	Het
Pip4k2c	G	A	10: 127,044,815 (GRCm39)	P66S	probably benign	Het
Pou2f3	G	T	9: 43,038,693 (GRCm39)	H392N	probably benign	Het
Pou3f1	G	T	4: 124,552,697 (GRCm39)	G400C	probably damaging	Het
Ptprg	T	C	14: 12,220,620 (GRCm38)	I1219T	probably damaging	Het
Rfx6	A	G	10: 51,596,124 (GRCm39)	D435G	probably damaging	Het
Rhpn2	T	A	7: 35,084,899 (GRCm39)	S598T	probably benign	Het
Sdccag8	C	A	1: 176,672,387 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,362,279 (GRCm39)	Y43*	probably null	Het
Sele	T	C	1: 163,876,813 (GRCm39)	Y30H	possibly damaging	Het
Sgsm2	C	T	11: 74,749,016 (GRCm39)		probably null	Het
Slc45a2	T	C	15: 11,025,831 (GRCm39)	Y394H	probably benign	Het
Slc4a10	T	G	2: 62,120,327 (GRCm39)	I788S	probably benign	Het
Slmap	A	T	14: 26,174,749 (GRCm39)	L161*	probably null	Het
Slx4	A	T	16: 3,803,882 (GRCm39)	D977E	probably benign	Het
Spata31e5	A	T	1: 28,816,423 (GRCm39)	Y536*	probably null	Het
Spata31f3	A	G	4: 42,874,013 (GRCm39)		probably benign	Het
Spen	A	T	4: 141,211,069 (GRCm39)	M608K	unknown	Het
St8sia4	G	C	1: 95,519,429 (GRCm39)	T353R	probably damaging	Het
Stab2	G	T	10: 86,679,355 (GRCm39)		probably benign	Het
Stx12	C	T	4: 132,585,741 (GRCm39)	G213D	probably damaging	Het
Synj2	A	T	17: 6,084,123 (GRCm39)	N270Y	probably damaging	Het
Tdrd9	C	T	12: 111,992,015 (GRCm39)	R438*	probably null	Het
Tert	T	C	13: 73,775,200 (GRCm39)	Y18H	probably damaging	Het
Tph1	A	T	7: 46,303,245 (GRCm39)	F244L	probably damaging	Het
Triobp	T	C	15: 78,852,401 (GRCm39)	F852L	possibly damaging	Het
Trpv1	T	C	11: 73,143,834 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,312,741 (GRCm39)		probably null	Het
Ulk4	A	G	9: 120,873,885 (GRCm39)	I1182T	probably benign	Het
Uqcc1	A	G	2: 155,752,288 (GRCm39)	Y98H	probably damaging	Het
Usp25	A	G	16: 76,906,105 (GRCm39)	I854V	probably benign	Het
Usp50	T	C	2: 126,603,464 (GRCm39)	S361G	probably damaging	Het
Uspl1	C	A	5: 149,151,625 (GRCm39)	Q743K	probably damaging	Het
Vmn2r3	A	G	3: 64,183,054 (GRCm39)	V215A	possibly damaging	Het
Vmn2r61	A	T	7: 41,915,335 (GRCm39)	H94L	probably benign	Het
Vps37c	T	C	19: 10,690,393 (GRCm39)	V285A	probably benign	Het
Vwa8	T	C	14: 79,300,116 (GRCm39)	V983A	probably damaging	Het
Zcchc9	C	T	13: 91,954,081 (GRCm39)	R58H	probably benign	Het
Zdbf2	T	C	1: 63,345,302 (GRCm39)	V1227A	possibly damaging	Het
Zfp292	T	C	4: 34,839,959 (GRCm39)	K64E	probably damaging	Het
Zfp948	A	G	17: 21,807,764 (GRCm39)	T319A	probably benign	Het
Zp3r	T	G	1: 130,504,870 (GRCm39)		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
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
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'- AGAAAAGGATTGTGCCTTCCTGCTG -3'
(R):5'- TGAAGAAAAGTGGCCCCATTTCCTG -3'

Sequencing Primer
(F):5'- TGCCTTCCTGCTGGGAAAG -3'
(R):5'- TAATCACCACACCGTTACTTTGG -3'

Posted On

2013-05-23