Mutagenetix > Incidental Mutation

Incidental Mutation 'R9655:C7'

735495

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9655 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5018244-5093222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5041464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 481 (T481S)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000110689
AA Change: T481S

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

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: T481S

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: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	A	7: 130,740,695 (GRCm39)	I174F	possibly damaging	Het
Ada	C	A	2: 163,574,270 (GRCm39)	V129F	probably damaging	Het
Adgrl4	G	T	3: 151,248,450 (GRCm39)	M707I	probably damaging	Het
Ahcyl	A	T	16: 45,974,564 (GRCm39)	I271N	probably damaging	Het
Arrb2	A	G	11: 70,331,073 (GRCm39)	Q419R	probably null	Het
Atad2	A	T	15: 57,998,303 (GRCm39)	L23Q	probably damaging	Het
Btbd2	A	T	10: 80,492,045 (GRCm39)	F107Y	probably benign	Het
Capn10	T	A	1: 92,867,111 (GRCm39)	W114R	probably damaging	Het
Ccdc121	C	T	5: 31,644,976 (GRCm39)	T243I	probably benign	Het
Cdc16	T	A	8: 13,809,153 (GRCm39)	D39E	possibly damaging	Het
Cfap74	A	T	4: 155,522,665 (GRCm39)	I684F		Het
Cyp2c70	T	A	19: 40,149,121 (GRCm39)	N342Y	possibly damaging	Het
Dnah17	G	A	11: 117,971,649 (GRCm39)	T2128I	possibly damaging	Het
Dnah5	A	G	15: 28,242,900 (GRCm39)	N545S	probably benign	Het
Dnmt3c	A	G	2: 153,561,914 (GRCm39)	N539S	probably damaging	Het
Elfn1	A	G	5: 139,958,964 (GRCm39)	E656G	possibly damaging	Het
Exd1	A	T	2: 119,350,855 (GRCm39)	C469S	probably damaging	Het
F5	A	T	1: 164,021,730 (GRCm39)	I1402F	probably benign	Het
Fam186a	A	G	15: 99,840,973 (GRCm39)	L1757P	probably damaging	Het
Fbxo42	A	T	4: 140,895,171 (GRCm39)	R45W	probably damaging	Het
Fer1l5	T	C	1: 36,460,696 (GRCm39)	V1978A	probably benign	Het
Fpr1	T	A	17: 18,097,618 (GRCm39)	I124F	probably damaging	Het
Fry	A	T	5: 150,362,251 (GRCm39)	D2173V	possibly damaging	Het
Gabbr2	G	T	4: 46,815,684 (GRCm39)	T228K	possibly damaging	Het
Galnt9	A	T	5: 110,762,104 (GRCm39)	Y414F	probably damaging	Het
Gask1a	T	A	9: 121,794,170 (GRCm39)	L108Q	probably benign	Het
Ggt5	A	T	10: 75,444,635 (GRCm39)	M318L	probably benign	Het
Glod4	A	C	11: 76,125,292 (GRCm39)	S156A	probably benign	Het
Gm5431	A	T	11: 48,785,799 (GRCm39)	M192K	probably benign	Het
Golga5	C	T	12: 102,446,008 (GRCm39)	S421L	possibly damaging	Het
Gpr18	T	C	14: 122,149,992 (GRCm39)	D11G	probably benign	Het
Igf2bp3	C	T	6: 49,064,338 (GRCm39)	V560I	probably benign	Het
Igfals	A	G	17: 25,099,665 (GRCm39)	N252S	probably damaging	Het
Ighv8-5	C	T	12: 115,031,416 (GRCm39)	C41Y	probably damaging	Het
Iqgap3	T	A	3: 88,016,728 (GRCm39)	V1070D	possibly damaging	Het
Kdr	G	A	5: 76,122,488 (GRCm39)	A479V	probably benign	Het
Kidins220	T	C	12: 25,047,295 (GRCm39)	L247P	probably damaging	Het
Kmt5a	A	G	5: 124,589,393 (GRCm39)	Y197C	probably damaging	Het
Krt33a	A	C	11: 99,906,624 (GRCm39)		probably null	Het
Mageb3	A	G	2: 121,785,649 (GRCm39)	S18P	unknown	Het
Mast1	T	A	8: 85,650,660 (GRCm39)	Y387F	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Med17	C	T	9: 15,176,719 (GRCm39)	V503M	possibly damaging	Het
Mpp3	A	G	11: 101,899,481 (GRCm39)	C347R	probably benign	Het
Mtr	A	G	13: 12,203,030 (GRCm39)	L1191P	probably damaging	Het
Mybphl	A	T	3: 108,282,099 (GRCm39)	I110F	probably damaging	Het
Nkx2-1	T	A	12: 56,581,802 (GRCm39)	D15V	probably damaging	Het
Nwd2	G	A	5: 63,964,568 (GRCm39)	W1384*	probably null	Het
Onecut1	A	G	9: 74,770,330 (GRCm39)	H251R	possibly damaging	Het
Or10ak8	T	A	4: 118,773,804 (GRCm39)	N287Y	probably damaging	Het
Or13f5	C	T	4: 52,825,526 (GRCm39)	T43I	probably benign	Het
Or51a6	A	G	7: 102,604,319 (GRCm39)	F163S	probably damaging	Het
Or8b37	A	T	9: 37,959,387 (GRCm39)	I290L	probably benign	Het
Palmd	T	C	3: 116,716,840 (GRCm39)	*552W	probably null	Het
Pcdhgb2	A	G	18: 37,823,285 (GRCm39)	E92G	probably damaging	Het
Pcdhgb5	G	T	18: 37,865,122 (GRCm39)	E306*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pex1	T	A	5: 3,655,653 (GRCm39)	L160Q	probably damaging	Het
Phxr2	A	T	10: 98,961,974 (GRCm39)	S29T	unknown	Het
Ppargc1a	A	G	5: 51,705,852 (GRCm39)		probably null	Het
Psmb11	T	C	14: 54,862,965 (GRCm39)	V61A	probably damaging	Het
Ripor2	A	T	13: 24,908,983 (GRCm39)	I1034F	possibly damaging	Het
Rnaset2b	T	A	17: 7,259,134 (GRCm39)	N133K	probably damaging	Het
Rtn4	A	G	11: 29,657,504 (GRCm39)	T553A	probably damaging	Het
Samd9l	T	A	6: 3,373,578 (GRCm39)	T1228S	probably benign	Het
Sdr42e2	A	G	7: 120,430,279 (GRCm39)	T379A	probably benign	Het
Shisal2a	C	A	4: 108,234,616 (GRCm39)	V84L	possibly damaging	Het
Slc1a1	C	T	19: 28,870,283 (GRCm39)	A94V	probably damaging	Het
Snx31	C	T	15: 36,534,582 (GRCm39)	C197Y	probably damaging	Het
Tbc1d4	A	G	14: 101,744,567 (GRCm39)	V353A	probably damaging	Het
Tbc1d9b	A	G	11: 50,059,610 (GRCm39)	D1004G	possibly damaging	Het
Tex15	T	A	8: 34,066,784 (GRCm39)	Y2071*	probably null	Het
Tnni3k	G	A	3: 154,645,410 (GRCm39)	R492*	probably null	Het
Tns2	A	G	15: 102,012,933 (GRCm39)	H7R	probably benign	Het
Top2a	G	T	11: 98,905,334 (GRCm39)	N369K	probably damaging	Het
Tpbg	A	T	9: 85,726,252 (GRCm39)	T74S	probably damaging	Het
Trpm6	A	G	19: 18,869,466 (GRCm39)	N2018D	probably benign	Het
Trub2	A	T	2: 29,669,833 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,813,305 (GRCm39)	F3324L		Het
Wdr20rt	A	T	12: 65,273,707 (GRCm39)	Q390L	probably benign	Het
Wdr49	T	A	3: 75,240,561 (GRCm39)	D436V	probably damaging	Het
Zfp111	C	T	7: 23,898,543 (GRCm39)	G357D	probably damaging	Het
Zfp668	A	G	7: 127,466,113 (GRCm39)	V357A	possibly 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
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
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'- CCTCAGAAGCTACGATGTGGAG -3'
(R):5'- AATGCTCGGAGTCCTGACTG -3'

Sequencing Primer
(F):5'- CTACGATGTGGAGATGGAAAACC -3'
(R):5'- GCTCGGAGTCCTGACTGACTTC -3'

Posted On

2022-11-14