Mutagenetix > Incidental Mutation

Incidental Mutation 'R4618:C9'

345126

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

MMRRC Submission

041884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6474808-6528232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6520944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 51 (D51G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022749]

AlphaFold

P06683

Predicted Effect

probably benign
Transcript: ENSMUST00000022749
AA Change: D463G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: D463G

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
TSP1	56	106	1.8e-6	SMART
LDLa	111	147	2.7e-12	SMART
MACPF	304	519	2.9e-52	SMART
Blast:EGF	525	556	4e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127196

Predicted Effect

probably damaging
Transcript: ENSMUST00000147905
AA Change: D51G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (89/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	T	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Adamtsl3	T	A	7: 82,255,728 (GRCm39)	M1580K	probably benign	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Akap3	G	T	6: 126,843,406 (GRCm39)	C675F	probably benign	Het
Asap1	A	T	15: 64,024,744 (GRCm39)	H318Q	probably damaging	Het
Atf7ip	G	T	6: 136,542,104 (GRCm39)	A18S	probably damaging	Het
Bcl2a1a	A	C	9: 88,839,357 (GRCm39)	N85T	probably damaging	Het
Btnl6	G	A	17: 34,733,120 (GRCm39)	P248S	probably damaging	Het
Ccdc14	T	A	16: 34,526,865 (GRCm39)	C257S	probably benign	Het
Cd5l	A	G	3: 87,275,926 (GRCm39)	T299A	probably benign	Het
Cstdc3	T	A	16: 36,132,952 (GRCm39)	D76E	possibly damaging	Het
Endou	C	T	15: 97,611,763 (GRCm39)	V292M	possibly damaging	Het
Fbxo36	T	C	1: 84,877,749 (GRCm39)	I137T	probably damaging	Het
Fcer1a	T	C	1: 173,050,208 (GRCm39)	I161V	possibly damaging	Het
Fsip2	A	G	2: 82,818,103 (GRCm39)	Y4612C	probably benign	Het
Gcnt2	T	A	13: 41,111,670 (GRCm39)	L353*	probably null	Het
Ghrhr	T	C	6: 55,358,739 (GRCm39)	F172S	probably damaging	Het
Gins1	T	A	2: 150,759,781 (GRCm39)		probably null	Het
Gm16519	T	G	17: 71,236,237 (GRCm39)	L62R	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Greb1l	A	G	18: 10,498,965 (GRCm39)	T283A	probably benign	Het
Grin2c	T	A	11: 115,143,573 (GRCm39)	D729V	probably damaging	Het
Heatr4	T	G	12: 84,024,841 (GRCm39)	T327P	probably damaging	Het
Hes2	A	C	4: 152,244,845 (GRCm39)	S105R	probably benign	Het
Hsph1	A	G	5: 149,542,308 (GRCm39)	V705A	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itih1	A	T	14: 30,651,788 (GRCm39)	D851E	probably benign	Het
Klhdc7b	A	G	15: 89,271,472 (GRCm39)	T785A	probably benign	Het
Lmbr1	G	T	5: 29,551,863 (GRCm39)	A74E	probably damaging	Het
Lonp1	A	C	17: 56,929,511 (GRCm39)	H175Q	probably benign	Het
Maml2	T	C	9: 13,531,371 (GRCm39)	F195S	probably damaging	Het
Man2b2	G	T	5: 36,974,983 (GRCm39)	T436K	probably benign	Het
Man2c1	T	C	9: 57,049,439 (GRCm39)		probably null	Het
Mrps15	G	A	4: 125,940,837 (GRCm39)		probably benign	Het
Mtrf1l	C	A	10: 5,767,586 (GRCm39)	V177F	probably benign	Het
Naxd	A	T	8: 11,559,489 (GRCm39)	I213F	probably damaging	Het
Nbeal1	T	A	1: 60,267,890 (GRCm39)		probably benign	Het
Nfatc1	T	C	18: 80,741,047 (GRCm39)	I318V	probably damaging	Het
Nid2	T	A	14: 19,858,078 (GRCm39)	I1297N	probably damaging	Het
Nol10	T	C	12: 17,398,562 (GRCm39)	V3A	probably damaging	Het
Nop14	G	T	5: 34,796,562 (GRCm39)	P765Q	probably damaging	Het
Noxa1	C	T	2: 24,981,761 (GRCm39)	G114D	probably damaging	Het
Ntmt2	A	T	1: 163,552,597 (GRCm39)	F10I	probably damaging	Het
Opa1	T	C	16: 29,405,857 (GRCm39)	W141R	probably damaging	Het
Or10a2	G	A	7: 106,673,761 (GRCm39)	C242Y	probably damaging	Het
Or13p4	A	T	4: 118,546,667 (GRCm39)		probably benign	Het
Or5d18	A	G	2: 87,864,898 (GRCm39)	V195A	probably benign	Het
Or8h10	A	G	2: 86,808,618 (GRCm39)	I174T	possibly damaging	Het
Pde4d	A	T	13: 110,070,411 (GRCm39)	M7L	probably benign	Het
Phykpl	G	A	11: 51,483,056 (GRCm39)	A188T	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Pkhd1l1	T	A	15: 44,403,078 (GRCm39)	V2260D	probably damaging	Het
Ptprt	T	C	2: 161,395,765 (GRCm39)	E1136G	probably damaging	Het
Rad21	A	T	15: 51,833,420 (GRCm39)	L353Q	probably damaging	Het
Rfx4	G	T	10: 84,716,760 (GRCm39)	A425S	probably benign	Het
Rnf38	A	G	4: 44,142,450 (GRCm39)	S169P	probably damaging	Het
Samd9l	C	A	6: 3,376,347 (GRCm39)	V305F	probably damaging	Het
Serpini1	A	G	3: 75,523,883 (GRCm39)	K164E	probably benign	Het
Sirt6	A	G	10: 81,462,408 (GRCm39)	L37P	probably damaging	Het
Sorbs1	T	C	19: 40,361,962 (GRCm39)	T141A	probably damaging	Het
Tacc2	A	T	7: 130,227,946 (GRCm39)	T1563S	probably benign	Het
Tbc1d14	A	C	5: 36,687,725 (GRCm39)		probably benign	Het
Tbrg4	G	A	11: 6,570,185 (GRCm39)		probably benign	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Tpp1	A	T	7: 105,400,913 (GRCm39)	L38Q	probably benign	Het
Trhr	A	G	15: 44,061,037 (GRCm39)	N186D	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Tsen54	T	A	11: 115,706,247 (GRCm39)		probably benign	Het
Tsg101	A	G	7: 46,542,257 (GRCm39)	I138T	possibly damaging	Het
Usp22	A	G	11: 61,052,269 (GRCm39)	S237P	probably damaging	Het
Vmn1r209	A	G	13: 22,990,619 (GRCm39)	S24P	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,424 (GRCm39)	H233Q	possibly damaging	Het
Vmn2r45	A	T	7: 8,486,436 (GRCm39)	I284N	probably benign	Het
Vmn2r66	T	C	7: 84,644,296 (GRCm39)	I705V	possibly damaging	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Zdhhc11	T	A	13: 74,127,349 (GRCm39)	M242K	probably benign	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het

Other mutations in C9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:C9	APN	15	6,516,137 (GRCm39)	missense	probably benign	0.04
IGL00229:C9	APN	15	6,512,712 (GRCm39)	missense	possibly damaging	0.68
IGL00647:C9	APN	15	6,512,564 (GRCm39)	missense	probably benign	0.43
IGL01618:C9	APN	15	6,489,149 (GRCm39)	missense	probably benign	0.38
IGL02530:C9	APN	15	6,526,613 (GRCm39)	missense	probably benign
R0267:C9	UTSW	15	6,496,939 (GRCm39)	missense	probably benign	0.00
R0477:C9	UTSW	15	6,487,664 (GRCm39)	missense	probably benign	0.25
R0552:C9	UTSW	15	6,474,918 (GRCm39)	missense	probably damaging	0.98
R0701:C9	UTSW	15	6,496,902 (GRCm39)	missense	probably damaging	1.00
R0792:C9	UTSW	15	6,516,243 (GRCm39)	missense	probably damaging	1.00
R0881:C9	UTSW	15	6,488,349 (GRCm39)	splice site	probably benign
R1281:C9	UTSW	15	6,519,321 (GRCm39)	missense	possibly damaging	0.80
R1384:C9	UTSW	15	6,488,415 (GRCm39)	missense	probably benign	0.08
R1522:C9	UTSW	15	6,516,243 (GRCm39)	missense	probably damaging	1.00
R1988:C9	UTSW	15	6,512,619 (GRCm39)	frame shift	probably null
R2229:C9	UTSW	15	6,474,901 (GRCm39)	missense	possibly damaging	0.95
R2406:C9	UTSW	15	6,512,780 (GRCm39)	missense	possibly damaging	0.76
R3720:C9	UTSW	15	6,512,600 (GRCm39)	missense	possibly damaging	0.95
R3723:C9	UTSW	15	6,512,561 (GRCm39)	missense	possibly damaging	0.77
R3929:C9	UTSW	15	6,496,939 (GRCm39)	missense	probably benign	0.00
R4371:C9	UTSW	15	6,520,965 (GRCm39)	missense	probably damaging	1.00
R4615:C9	UTSW	15	6,520,944 (GRCm39)	missense	probably damaging	0.99
R4616:C9	UTSW	15	6,520,944 (GRCm39)	missense	probably damaging	0.99
R4749:C9	UTSW	15	6,519,311 (GRCm39)	missense	probably benign	0.19
R4764:C9	UTSW	15	6,489,124 (GRCm39)	missense	probably damaging	1.00
R5544:C9	UTSW	15	6,526,508 (GRCm39)	missense	probably damaging	0.99
R5723:C9	UTSW	15	6,516,297 (GRCm39)	missense	probably damaging	1.00
R5813:C9	UTSW	15	6,526,607 (GRCm39)	missense	probably benign	0.05
R6735:C9	UTSW	15	6,519,387 (GRCm39)	missense	probably benign	0.06
R6754:C9	UTSW	15	6,519,424 (GRCm39)	nonsense	probably null
R6956:C9	UTSW	15	6,474,945 (GRCm39)	missense	probably benign
R7706:C9	UTSW	15	6,488,402 (GRCm39)	missense	probably benign	0.08
R7791:C9	UTSW	15	6,519,359 (GRCm39)	missense	possibly damaging	0.82
R7893:C9	UTSW	15	6,512,726 (GRCm39)	missense	possibly damaging	0.94
R7977:C9	UTSW	15	6,496,943 (GRCm39)	nonsense	probably null
R7987:C9	UTSW	15	6,496,943 (GRCm39)	nonsense	probably null
R8185:C9	UTSW	15	6,520,878 (GRCm39)	missense	probably damaging	1.00
R9013:C9	UTSW	15	6,516,193 (GRCm39)	missense	probably damaging	1.00
R9569:C9	UTSW	15	6,489,062 (GRCm39)	missense	probably damaging	1.00
R9716:C9	UTSW	15	6,526,430 (GRCm39)	critical splice acceptor site	probably null
Z1177:C9	UTSW	15	6,521,000 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAATGCTATCCAAATAACAGAGC -3'
(R):5'- ATTGGGATGTGTAGTAAGAAAATGAC -3'

Sequencing Primer
(F):5'- GAGCACATAGTTGCAAATGCTTCC -3'
(R):5'- TCCAGCTGCATGTGTAACAG -3'

Posted On

2015-09-25