Mutagenetix > Incidental Mutation

Incidental Mutation 'R5813:C9'

447647

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5813 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6474808-6528232 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 6526607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 547 (P547L)

Ref Sequence

ENSEMBL: ENSMUSP00000022749 (fasta)

Gene Model

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

AlphaFold

P06683

Predicted Effect

probably benign
Transcript: ENSMUST00000022749
AA Change: P547L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: P547L

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

probably benign
Transcript: ENSMUST00000147905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158124

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	A	G	3: 89,253,135 (GRCm39)	Y230H	probably benign	Het
Ano7	G	T	1: 93,312,641 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,834,506 (GRCm39)	Y792C	probably damaging	Het
Art3	C	A	5: 92,560,100 (GRCm39)		probably benign	Het
Atad2	C	T	15: 57,963,250 (GRCm39)	G1085D	probably benign	Het
Birc6	C	A	17: 74,953,497 (GRCm39)	A3253E	probably damaging	Het
Cecr2	T	C	6: 120,739,169 (GRCm39)	S1271P	probably damaging	Het
Ces1e	T	A	8: 93,948,305 (GRCm39)	K105*	probably null	Het
Cpsf4	A	G	5: 145,115,683 (GRCm39)	N204S	probably benign	Het
Cracd	A	G	5: 77,006,275 (GRCm39)	T879A	unknown	Het
Dgkz	T	C	2: 91,769,733 (GRCm39)	D615G	possibly damaging	Het
Disp1	G	T	1: 182,869,974 (GRCm39)	N815K	probably damaging	Het
Enah	A	G	1: 181,758,750 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,800,919 (GRCm39)	T1322A	possibly damaging	Het
Frem1	A	G	4: 82,918,395 (GRCm39)	F516L	probably damaging	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Fyco1	T	C	9: 123,660,413 (GRCm39)	Y190C	probably damaging	Het
Gfra1	T	C	19: 58,227,687 (GRCm39)	D417G	probably benign	Het
Gigyf2	T	C	1: 87,368,485 (GRCm39)	I1055T	probably damaging	Het
Invs	A	G	4: 48,398,146 (GRCm39)	E444G	probably damaging	Het
Itga10	A	G	3: 96,559,901 (GRCm39)	T519A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kdm2b	A	G	5: 123,009,931 (GRCm39)	S727P	probably benign	Het
Kidins220	A	T	12: 25,107,139 (GRCm39)	K1531*	probably null	Het
Ksr1	C	T	11: 78,929,024 (GRCm39)	V266M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipi	T	C	16: 75,370,798 (GRCm39)	R140G	possibly damaging	Het
Lrrc32	T	C	7: 98,147,618 (GRCm39)	S133P	probably damaging	Het
Map3k7	T	A	4: 31,964,318 (GRCm39)	I19N	probably damaging	Het
Marf1	A	G	16: 13,970,449 (GRCm39)	V90A	probably benign	Het
Mark3	T	C	12: 111,621,877 (GRCm39)	L673P	probably damaging	Het
Meis1	T	C	11: 18,966,229 (GRCm39)	H48R	probably benign	Het
Mettl26	G	A	17: 26,094,995 (GRCm39)	V87M	probably damaging	Het
Mknk2	T	C	10: 80,511,696 (GRCm39)	R5G	probably benign	Het
Mtcl3	G	T	10: 29,026,240 (GRCm39)	V441F	probably damaging	Het
Mterf1b	T	C	5: 4,246,956 (GRCm39)	V199A	possibly damaging	Het
Ncs1	T	A	2: 31,170,666 (GRCm39)		probably null	Het
Nek10	T	C	14: 14,986,704 (GRCm38)	V1014A	probably benign	Het
Notch2	A	G	3: 98,042,744 (GRCm39)	N1370D	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Opn5	C	G	17: 42,903,897 (GRCm39)	R146T	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or8b55	T	A	9: 38,726,952 (GRCm39)	M51K	probably benign	Het
Or8g33	A	G	9: 39,338,032 (GRCm39)	C112R	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcyox1l	C	T	18: 61,832,359 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,044,962 (GRCm39)	T1128A	possibly damaging	Het
Prex1	T	C	2: 166,425,127 (GRCm39)	T960A	probably benign	Het
Prkaa2	A	C	4: 104,893,291 (GRCm39)	*553G	probably null	Het
Rasgrp4	A	G	7: 28,844,639 (GRCm39)	D297G	probably damaging	Het
Sdf4	G	A	4: 156,083,856 (GRCm39)	V109I	probably benign	Het
Serpinb3d	T	C	1: 107,007,027 (GRCm39)	K227R	probably benign	Het
Sgsm1	A	T	5: 113,398,822 (GRCm39)	I750N	probably damaging	Het
Shtn1	T	A	19: 59,020,673 (GRCm39)	K183M	probably damaging	Het
Skic3	A	G	13: 76,303,852 (GRCm39)	T1257A	probably benign	Het
Slc22a30	T	C	19: 8,381,945 (GRCm39)	T109A	probably benign	Het
Slco1c1	A	G	6: 141,487,929 (GRCm39)	D99G	probably damaging	Het
Tcf25	T	A	8: 124,122,354 (GRCm39)		probably null	Het
Tex10	A	G	4: 48,452,928 (GRCm39)	V677A	probably benign	Het
Tmem131l	A	G	3: 83,847,879 (GRCm39)	S329P	probably benign	Het
Trappc10	T	A	10: 78,058,573 (GRCm39)	N136I	probably damaging	Het
Trpt1	T	C	19: 6,975,906 (GRCm39)	F173L	probably benign	Het
Ube4b	G	A	4: 149,421,925 (GRCm39)	R955C	probably damaging	Het
Usp34	C	A	11: 23,371,340 (GRCm39)	P1840T	probably benign	Het
Vmn1r27	A	T	6: 58,192,985 (GRCm39)	N6K	possibly damaging	Het
Wdr25	T	C	12: 108,993,347 (GRCm39)	V521A	possibly damaging	Het
Wdr64	G	A	1: 175,639,623 (GRCm39)	E1031K	possibly damaging	Het
Wnt10a	A	G	1: 74,839,755 (GRCm39)	N147S	probably damaging	Het
Zbed5	T	C	5: 129,931,059 (GRCm39)	I336T	possibly damaging	Het
Zfp758	T	A	17: 22,594,796 (GRCm39)	H427Q	probably damaging	Het
Zfp961	C	A	8: 72,722,070 (GRCm39)	H194Q	probably damaging	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
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
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'- AGGGTGTCTTACAAGTTCTGCAG -3'
(R):5'- GCCAGGTTGACCAGAGCAAG -3'

Sequencing Primer
(F):5'- GTGTCTTACAAGTTCTGCAGAAAAAG -3'
(R):5'- CAGAGGTCCTAAGTTCATTTCCCAAG -3'

Posted On

2016-12-15