Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:C9'

167561

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6445327-6498751 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6486762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 349 (F349I)

Ref Sequence

ENSEMBL: ENSMUSP00000022749 (fasta)

Gene Model

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

AlphaFold

P06683

Predicted Effect

probably damaging
Transcript: ENSMUST00000022749
AA Change: F349I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: F349I

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

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,162,586 (GRCm38)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,610,694 (GRCm38)	W22R	probably damaging	Het
AA986860	A	G	1: 130,743,094 (GRCm38)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,280,492 (GRCm38)	V195A	probably benign	Het
Adamts10	A	G	17: 33,537,319 (GRCm38)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,580,617 (GRCm38)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,755,867 (GRCm38)	R859*	probably null	Het
Atp8b1	T	A	18: 64,550,432 (GRCm38)	I742L	probably benign	Het
B3galnt2	T	A	13: 13,970,769 (GRCm38)	V89E	probably damaging	Het
BC024978	A	G	7: 27,202,680 (GRCm38)	H244R	probably damaging	Het
Brinp3	A	C	1: 146,901,890 (GRCm38)	T692P	probably damaging	Het
Cacna1a	T	A	8: 84,633,433 (GRCm38)	M1976K	probably benign	Het
Ccdc180	T	C	4: 45,927,975 (GRCm38)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,931,276 (GRCm38)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,271,889 (GRCm38)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,540,572 (GRCm38)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,755,171 (GRCm38)	M240L	probably benign	Het
Clnk	G	A	5: 38,794,966 (GRCm38)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,155,279 (GRCm38)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,055,254 (GRCm38)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,939,994 (GRCm38)	I373F	unknown	Het
Dmxl1	C	T	18: 49,852,367 (GRCm38)	A227V	probably benign	Het
Dok5	A	G	2: 170,732,132 (GRCm38)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,363,557 (GRCm38)	V138D	probably damaging	Het
Efs	A	T	14: 54,919,715 (GRCm38)	Y380N	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Farp2	A	G	1: 93,618,553 (GRCm38)	Q855R	possibly damaging	Het
Fcrls	A	C	3: 87,256,707 (GRCm38)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,944,229 (GRCm38)	A113V	probably damaging	Het
Gatsl2	T	G	5: 134,125,887 (GRCm38)	S43R	probably damaging	Het
Gda	T	A	19: 21,412,539 (GRCm38)	E219D	probably benign	Het
Gli1	A	T	10: 127,332,577 (GRCm38)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,641,650 (GRCm38)	S148R	probably damaging	Het
Golga2	T	C	2: 32,302,204 (GRCm38)	V325A	probably benign	Het
Hpf1	A	G	8: 60,896,749 (GRCm38)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,705,853 (GRCm38)	S291*	probably null	Het
Itga5	G	A	15: 103,356,782 (GRCm38)	Q233*	probably null	Het
Jazf1	C	A	6: 52,812,183 (GRCm38)	R102L	probably damaging	Het
Kif6	T	G	17: 49,714,113 (GRCm38)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,667,416 (GRCm38)	K217T	probably damaging	Het
Lig4	A	T	8: 9,973,012 (GRCm38)	V256E	possibly damaging	Het
Lrp1	A	T	10: 127,575,286 (GRCm38)	D1399E	probably benign	Het
Lrp1	G	T	10: 127,567,364 (GRCm38)	D2113E	probably damaging	Het
Mmel1	A	G	4: 154,894,986 (GRCm38)	E717G	probably damaging	Het
Mndal	G	T	1: 173,871,466 (GRCm38)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,511,623 (GRCm38)		probably null	Het
Nedd1	T	C	10: 92,719,614 (GRCm38)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,435,909 (GRCm38)	N551K	probably damaging	Het
Nup210	G	A	6: 91,069,166 (GRCm38)	P595L	possibly damaging	Het
Olfr117	A	T	17: 37,659,770 (GRCm38)	C188S	probably damaging	Het
Olfr1302	A	T	2: 111,780,348 (GRCm38)		probably null	Het
Olfr199	T	G	16: 59,215,984 (GRCm38)	T210P	probably damaging	Het
Olfr477	A	G	7: 107,990,533 (GRCm38)	H56R	probably benign	Het
Olfr697	A	G	7: 106,741,005 (GRCm38)	C310R	probably benign	Het
Pank3	G	A	11: 35,781,681 (GRCm38)	V304M	probably benign	Het
Phf3	G	A	1: 30,805,648 (GRCm38)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,525,157 (GRCm38)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,497,425 (GRCm38)	D73G	probably damaging	Het
Prelid2	T	G	18: 41,881,267 (GRCm38)	M165L	probably benign	Het
Prkd3	A	C	17: 78,952,696 (GRCm38)	L826R	probably damaging	Het
Ptchd4	A	T	17: 42,503,542 (GRCm38)	N778I	probably damaging	Het
Ptprm	T	C	17: 66,693,871 (GRCm38)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 73,075,482 (GRCm38)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 91,896,086 (GRCm38)	F949L	probably benign	Het
Rbm33	A	G	5: 28,337,004 (GRCm38)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,586,533 (GRCm38)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm38)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,392,612 (GRCm38)	L875F	probably damaging	Het
Scube1	T	A	15: 83,628,076 (GRCm38)		probably null	Het
Selenbp1	G	A	3: 94,937,358 (GRCm38)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,151,546 (GRCm38)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,208,501 (GRCm38)	G63D	probably damaging	Het
Snx14	T	C	9: 88,402,224 (GRCm38)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,124,082 (GRCm38)	M1K	probably null	Het
Sorcs3	C	A	19: 48,706,009 (GRCm38)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,103,783 (GRCm38)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,540,246 (GRCm38)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,551,318 (GRCm38)	K691E	probably benign	Het
Tenm3	G	A	8: 48,395,576 (GRCm38)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,839,696 (GRCm38)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,406,002 (GRCm38)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,886,471 (GRCm38)	R66*	probably null	Het
Tmem39b	G	T	4: 129,684,482 (GRCm38)	D315E	probably benign	Het
Tnxb	T	C	17: 34,718,638 (GRCm38)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,186,183 (GRCm38)	L225*	probably null	Het
Trim42	A	T	9: 97,365,679 (GRCm38)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,640 (GRCm38)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,978,334 (GRCm38)	I1091T	probably benign	Het
Tst	T	C	15: 78,399,943 (GRCm38)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,871,716 (GRCm38)		probably benign	Het
Uap1	A	C	1: 170,150,941 (GRCm38)		probably null	Het
Ush2a	T	C	1: 188,797,814 (GRCm38)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,825,166 (GRCm38)	T38A	probably benign	Het
Uvssa	A	T	5: 33,387,808 (GRCm38)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,843,268 (GRCm38)	H113P	probably damaging	Het
Vps13d	A	T	4: 145,098,172 (GRCm38)		probably null	Het
Zfp182	T	A	X: 21,031,560 (GRCm38)	I166L	probably benign	Het
Zfp811	A	T	17: 32,797,648 (GRCm38)	Y472N	probably damaging	Het

Other mutations in C9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00096:C9	APN	15	6,486,656 (GRCm38)	missense	probably benign	0.04
IGL00229:C9	APN	15	6,483,231 (GRCm38)	missense	possibly damaging	0.68
IGL00647:C9	APN	15	6,483,083 (GRCm38)	missense	probably benign	0.43
IGL01618:C9	APN	15	6,459,668 (GRCm38)	missense	probably benign	0.38
IGL02530:C9	APN	15	6,497,132 (GRCm38)	missense	probably benign
R0267:C9	UTSW	15	6,467,458 (GRCm38)	missense	probably benign	0.00
R0477:C9	UTSW	15	6,458,183 (GRCm38)	missense	probably benign	0.25
R0552:C9	UTSW	15	6,445,437 (GRCm38)	missense	probably damaging	0.98
R0701:C9	UTSW	15	6,467,421 (GRCm38)	missense	probably damaging	1.00
R0792:C9	UTSW	15	6,486,762 (GRCm38)	missense	probably damaging	1.00
R0881:C9	UTSW	15	6,458,868 (GRCm38)	splice site	probably benign
R1281:C9	UTSW	15	6,489,840 (GRCm38)	missense	possibly damaging	0.80
R1384:C9	UTSW	15	6,458,934 (GRCm38)	missense	probably benign	0.08
R1988:C9	UTSW	15	6,483,138 (GRCm38)	frame shift	probably null
R2229:C9	UTSW	15	6,445,420 (GRCm38)	missense	possibly damaging	0.95
R2406:C9	UTSW	15	6,483,299 (GRCm38)	missense	possibly damaging	0.76
R3720:C9	UTSW	15	6,483,119 (GRCm38)	missense	possibly damaging	0.95
R3723:C9	UTSW	15	6,483,080 (GRCm38)	missense	possibly damaging	0.77
R3929:C9	UTSW	15	6,467,458 (GRCm38)	missense	probably benign	0.00
R4371:C9	UTSW	15	6,491,484 (GRCm38)	missense	probably damaging	1.00
R4615:C9	UTSW	15	6,491,463 (GRCm38)	missense	probably damaging	0.99
R4616:C9	UTSW	15	6,491,463 (GRCm38)	missense	probably damaging	0.99
R4618:C9	UTSW	15	6,491,463 (GRCm38)	missense	probably damaging	0.99
R4749:C9	UTSW	15	6,489,830 (GRCm38)	missense	probably benign	0.19
R4764:C9	UTSW	15	6,459,643 (GRCm38)	missense	probably damaging	1.00
R5544:C9	UTSW	15	6,497,027 (GRCm38)	missense	probably damaging	0.99
R5723:C9	UTSW	15	6,486,816 (GRCm38)	missense	probably damaging	1.00
R5813:C9	UTSW	15	6,497,126 (GRCm38)	missense	probably benign	0.05
R6735:C9	UTSW	15	6,489,906 (GRCm38)	missense	probably benign	0.06
R6754:C9	UTSW	15	6,489,943 (GRCm38)	nonsense	probably null
R6956:C9	UTSW	15	6,445,464 (GRCm38)	missense	probably benign
R7706:C9	UTSW	15	6,458,921 (GRCm38)	missense	probably benign	0.08
R7791:C9	UTSW	15	6,489,878 (GRCm38)	missense	possibly damaging	0.82
R7893:C9	UTSW	15	6,483,245 (GRCm38)	missense	possibly damaging	0.94
R7977:C9	UTSW	15	6,467,462 (GRCm38)	nonsense	probably null
R7987:C9	UTSW	15	6,467,462 (GRCm38)	nonsense	probably null
R8185:C9	UTSW	15	6,491,397 (GRCm38)	missense	probably damaging	1.00
R9013:C9	UTSW	15	6,486,712 (GRCm38)	missense	probably damaging	1.00
R9569:C9	UTSW	15	6,459,581 (GRCm38)	missense	probably damaging	1.00
R9716:C9	UTSW	15	6,496,949 (GRCm38)	critical splice acceptor site	probably null
Z1177:C9	UTSW	15	6,491,519 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGTCACTGCTTGTCAAGATAGCAT -3'
(R):5'- GGCAACATTTAGAGCAATTTGTTCCCA -3'

Sequencing Primer
(F):5'- CTGCTTGTCAAGATAGCATGATTTG -3'
(R):5'- ACTGTTAGATGCTGAAGGGC -3'

Posted On

2014-04-13