Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00096:C9'

935

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00096

Quality Score

Status

Chromosome

Chromosomal Location

6474808-6528232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 6516137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 313 (Q313H)

Ref Sequence

ENSEMBL: ENSMUSP00000022749 (fasta)

Gene Model

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

AlphaFold

P06683

Predicted Effect

probably benign
Transcript: ENSMUST00000022749
AA Change: Q313H

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: Q313H

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 benign
Transcript: ENSMUST00000147905

Coding Region Coverage

Validation Efficiency

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,027,477 (GRCm39)	Y42H	probably damaging	Het
Alpk1	A	T	3: 127,474,692 (GRCm39)	F437Y	probably damaging	Het
Bdp1	T	C	13: 100,197,373 (GRCm39)	D1004G	possibly damaging	Het
Carmil1	T	A	13: 24,295,821 (GRCm39)	N398Y	possibly damaging	Het
Cyp2s1	A	G	7: 25,508,683 (GRCm39)	V253A	probably damaging	Het
Inpp5k	T	A	11: 75,537,646 (GRCm39)	M352K	possibly damaging	Het
Lef1	C	T	3: 130,907,499 (GRCm39)		probably benign	Het
Naip5	C	A	13: 100,382,683 (GRCm39)	E9*	probably null	Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Peli1	G	A	11: 21,092,619 (GRCm39)	V89I	probably damaging	Het
Plb1	A	G	5: 32,503,080 (GRCm39)	Q1180R	probably benign	Het
Skic2	T	A	17: 35,058,524 (GRCm39)	I1198F	probably damaging	Het
Sorcs3	T	A	19: 48,672,097 (GRCm39)		probably null	Het
Spin2f	T	A	X: 30,905,704 (GRCm39)	I51N	probably damaging	Het
Sptbn4	T	C	7: 27,068,859 (GRCm39)	K1800E	probably damaging	Het
Vmn2r67	A	T	7: 84,801,138 (GRCm39)	V266E	probably damaging	Het

Other mutations in C9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4618: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

Posted On

2011-07-12