Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:C9'

351063

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6445327-6498751 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6491463 bp (GRCm38)

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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Tox2	T	C	2: 163,320,647	L479P	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly damaging	Het

Other mutations in C9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:C9	APN	15	6486656	missense	probably benign	0.04
IGL00229:C9	APN	15	6483231	missense	possibly damaging	0.68
IGL00647:C9	APN	15	6483083	missense	probably benign	0.43
IGL01618:C9	APN	15	6459668	missense	probably benign	0.38
IGL02530:C9	APN	15	6497132	missense	probably benign
R0267:C9	UTSW	15	6467458	missense	probably benign	0.00
R0477:C9	UTSW	15	6458183	missense	probably benign	0.25
R0552:C9	UTSW	15	6445437	missense	probably damaging	0.98
R0701:C9	UTSW	15	6467421	missense	probably damaging	1.00
R0792:C9	UTSW	15	6486762	missense	probably damaging	1.00
R0881:C9	UTSW	15	6458868	splice site	probably benign
R1281:C9	UTSW	15	6489840	missense	possibly damaging	0.80
R1384:C9	UTSW	15	6458934	missense	probably benign	0.08
R1522:C9	UTSW	15	6486762	missense	probably damaging	1.00
R1988:C9	UTSW	15	6483138	frame shift	probably null
R2229:C9	UTSW	15	6445420	missense	possibly damaging	0.95
R2406:C9	UTSW	15	6483299	missense	possibly damaging	0.76
R3720:C9	UTSW	15	6483119	missense	possibly damaging	0.95
R3723:C9	UTSW	15	6483080	missense	possibly damaging	0.77
R3929:C9	UTSW	15	6467458	missense	probably benign	0.00
R4371:C9	UTSW	15	6491484	missense	probably damaging	1.00
R4615:C9	UTSW	15	6491463	missense	probably damaging	0.99
R4618:C9	UTSW	15	6491463	missense	probably damaging	0.99
R4749:C9	UTSW	15	6489830	missense	probably benign	0.19
R4764:C9	UTSW	15	6459643	missense	probably damaging	1.00
R5544:C9	UTSW	15	6497027	missense	probably damaging	0.99
R5723:C9	UTSW	15	6486816	missense	probably damaging	1.00
R5813:C9	UTSW	15	6497126	missense	probably benign	0.05
R6735:C9	UTSW	15	6489906	missense	probably benign	0.06
R6754:C9	UTSW	15	6489943	nonsense	probably null
R6956:C9	UTSW	15	6445464	missense	probably benign
R7706:C9	UTSW	15	6458921	missense	probably benign	0.08
R7791:C9	UTSW	15	6489878	missense	possibly damaging	0.82
R7893:C9	UTSW	15	6483245	missense	possibly damaging	0.94
R7977:C9	UTSW	15	6467462	nonsense	probably null
R7987:C9	UTSW	15	6467462	nonsense	probably null
R8185:C9	UTSW	15	6491397	missense	probably damaging	1.00
R9013:C9	UTSW	15	6486712	missense	probably damaging	1.00
R9569:C9	UTSW	15	6459581	missense	probably damaging	1.00
R9716:C9	UTSW	15	6496949	critical splice acceptor site	probably null
Z1177:C9	UTSW	15	6491519	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCAAATGCTATCCAAATAACAGAGC -3'
(R):5'- TTGGGATGTGTAGTAAGAAAATGACA -3'

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

Posted On

2015-10-08