Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:C7'

158676

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000079105

Gene Name

complement component 7

Synonyms

LOC383055

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4988762-5063740 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 5059419 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 13 (I13M)

Ref Sequence

ENSEMBL: ENSMUSP00000106317 (fasta)

Gene Model

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

AlphaFold

D3YXF5

Predicted Effect

probably benign
Transcript: ENSMUST00000110689
AA Change: I13M

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000106317
Gene: ENSMUSG00000079105
AA Change: I13M

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: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aoc1	A	T	6: 48,905,445	K107M	possibly damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,777,971	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mtmr7	A	G	8: 40,560,882	S212P	probably damaging	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Synj2	A	G	17: 6,023,665	K245E	probably damaging	Het
Tmem131	G	A	1: 36,825,478	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	probably damaging	Het

Other mutations in C7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:C7	APN	15	5059389	splice site	probably benign
IGL02803:C7	APN	15	5049560	missense	probably damaging	1.00
R0016:C7	UTSW	15	5046924	missense	probably benign	0.01
R0016:C7	UTSW	15	5046924	missense	probably benign	0.01
R0271:C7	UTSW	15	5015380	missense	possibly damaging	0.81
R0360:C7	UTSW	15	4988962	missense	probably benign	0.00
R0433:C7	UTSW	15	4988916	missense	probably damaging	1.00
R0505:C7	UTSW	15	4994142	splice site	probably benign
R1056:C7	UTSW	15	5045778	missense	possibly damaging	0.89
R1468:C7	UTSW	15	5012149	missense	probably damaging	1.00
R1468:C7	UTSW	15	5012149	missense	probably damaging	1.00
R1700:C7	UTSW	15	5002792	nonsense	probably null
R1774:C7	UTSW	15	5012075	missense	probably damaging	0.99
R1801:C7	UTSW	15	5012021	missense	possibly damaging	0.61
R1809:C7	UTSW	15	5034339	missense	probably damaging	0.99
R1986:C7	UTSW	15	5012012	missense	possibly damaging	0.94
R2037:C7	UTSW	15	5034238	nonsense	probably null
R2047:C7	UTSW	15	5045661	missense	probably damaging	1.00
R2073:C7	UTSW	15	4990428	missense	probably benign	0.09
R3972:C7	UTSW	15	5007651	missense	possibly damaging	0.77
R4080:C7	UTSW	15	4990464	missense	probably benign	0.09
R4200:C7	UTSW	15	4990309	critical splice donor site	probably null
R4576:C7	UTSW	15	5002756	missense	probably damaging	1.00
R4815:C7	UTSW	15	5059405	missense	probably benign	0.16
R4995:C7	UTSW	15	5049592	missense	probably damaging	1.00
R5300:C7	UTSW	15	5031950	missense	probably damaging	1.00
R5562:C7	UTSW	15	5031915	nonsense	probably null
R5708:C7	UTSW	15	5015401	missense	possibly damaging	0.90
R5740:C7	UTSW	15	5057040	missense	probably benign	0.00
R5873:C7	UTSW	15	5005235	missense	probably damaging	1.00
R6222:C7	UTSW	15	5011941	missense	possibly damaging	0.89
R6516:C7	UTSW	15	5057081	missense	probably damaging	0.98
R6810:C7	UTSW	15	5007654	missense	probably damaging	0.98
R7019:C7	UTSW	15	5045682	missense	probably benign	0.04
R7199:C7	UTSW	15	4994243	missense	probably benign	0.09
R7276:C7	UTSW	15	5011967	missense	probably damaging	1.00
R7422:C7	UTSW	15	5012056	missense	probably benign	0.13
R7652:C7	UTSW	15	5012105	missense	probably damaging	1.00
R7783:C7	UTSW	15	5007710	missense	probably benign	0.08
R8266:C7	UTSW	15	5007659	missense	probably damaging	0.99
R8295:C7	UTSW	15	4988845	missense	probably damaging	1.00
R8848:C7	UTSW	15	5059429	missense	probably damaging	0.96
R8951:C7	UTSW	15	5002749	missense	probably benign	0.00
R9008:C7	UTSW	15	5010927	missense
R9256:C7	UTSW	15	4994163	missense	probably damaging	1.00
R9466:C7	UTSW	15	5015402	missense	probably benign	0.05
R9562:C7	UTSW	15	5057097	critical splice acceptor site	probably null
R9565:C7	UTSW	15	5057097	critical splice acceptor site	probably null
R9655:C7	UTSW	15	5011982	missense	probably damaging	1.00
R9757:C7	UTSW	15	5045652	missense	probably damaging	0.98
Z1177:C7	UTSW	15	5015375	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- ACAAATATCACTCTGGGAGTGCTGC -3'
(R):5'- ACCATCCTGGCTTTCTCAAACTGG -3'

Sequencing Primer
(F):5'- GCTCTCTGAATGAAAGTAAAATCCTG -3'
(R):5'- cggcaataaatatgggtgtgaag -3'

Posted On

2014-03-14