Mutagenetix > Incidental Mutation

Incidental Mutation 'R0552:C9'

45253

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

MMRRC Submission

038744-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0552 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

6445327-6498751 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6445437 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 26 (I26F)

Ref Sequence

ENSEMBL: ENSMUSP00000022749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022749] [ENSMUST00000078019] [ENSMUST00000080880] [ENSMUST00000110664]

AlphaFold

P06683

Predicted Effect

probably damaging
Transcript: ENSMUST00000022749
AA Change: I26F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: I26F

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: ENSMUST00000078019

SMART Domains

Protein: ENSMUSP00000077166
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	270	288	N/A	INTRINSIC
low complexity region	292	306	N/A	INTRINSIC
low complexity region	335	355	N/A	INTRINSIC
low complexity region	378	394	N/A	INTRINSIC
PDB:3H8D\|H	465	493	2e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000080880

SMART Domains

Protein: ENSMUSP00000079689
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	488	506	N/A	INTRINSIC
low complexity region	510	524	N/A	INTRINSIC
low complexity region	553	573	N/A	INTRINSIC
low complexity region	596	612	N/A	INTRINSIC
PDB:3H8D\|H	683	711	3e-12	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000110664

SMART Domains

Protein: ENSMUSP00000106292
Gene: ENSMUSG00000022150

Domain	Start	End	E-Value	Type
low complexity region	19	34	N/A	INTRINSIC
PTB	45	179	1.16e-27	SMART
low complexity region	467	485	N/A	INTRINSIC
low complexity region	489	503	N/A	INTRINSIC
low complexity region	532	552	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
PDB:3H8D\|H	662	690	3e-12	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000128097
AA Change: I22F

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 24,963,010	N760K	probably benign	Het
Akr1b10	A	G	6: 34,392,985	T216A	possibly damaging	Het
Arsj	A	G	3: 126,439,344	R580G	probably benign	Het
Cacna2d1	A	G	5: 16,328,043	E578G	probably damaging	Het
Clca4b	C	T	3: 144,916,775	V510I	probably benign	Het
Dab2	C	T	15: 6,435,414	T561I	possibly damaging	Het
E430018J23Rik	A	T	7: 127,392,332	I161N	possibly damaging	Het
Gm4737	T	A	16: 46,154,592	T141S	probably benign	Het
Golga5	A	T	12: 102,484,493	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,935	F208I	probably damaging	Het
Inf2	A	G	12: 112,612,574		probably benign	Het
Kcnh3	T	A	15: 99,229,456	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lcn3	T	C	2: 25,766,409		probably null	Het
Mppe1	A	G	18: 67,237,348		probably null	Het
Muc20	G	A	16: 32,793,930	A359V	probably damaging	Het
Myh14	T	C	7: 44,613,681	D1765G	probably damaging	Het
Olfr1257	C	T	2: 89,880,891	Q22*	probably null	Het
Olfr418	T	C	1: 173,270,805	M210T	probably benign	Het
Olfr482	A	G	7: 108,094,778	M264T	probably benign	Het
Pbrm1	T	A	14: 31,035,959	L182Q	probably damaging	Het
Pde8a	A	G	7: 81,317,347	N412S	probably benign	Het
Phyh	A	G	2: 4,936,101	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,489,546	S258P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,345,737	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,676,765	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,584,270	E44G	possibly damaging	Het
Slit2	A	T	5: 48,238,379	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,145,985	M303T	possibly damaging	Het
Ssbp4	A	G	8: 70,599,859	I154T	probably benign	Het
Syne2	A	G	12: 75,931,004	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,234,225	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,975,696		probably null	Het
Tmprss15	C	T	16: 79,024,749		probably null	Het
Tns1	A	T	1: 73,920,563	I418N	probably damaging	Het
Txlna	A	T	4: 129,629,191	V452D	probably benign	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	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
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
R4616: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
Z1177:C9	UTSW	15	6491519	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACCTTGACACTTAGCCTAAGCC -3'
(R):5'- TGGACCACGGAATGGAATGTCAC -3'

Sequencing Primer
(F):5'- TTAGCCTAAGCCAACACCTATG -3'
(R):5'- GTGAATTTCTCAGCCCATAGAC -3'

Posted On

2013-06-11