Mutagenetix > Incidental Mutations

Incidental Mutation 'R6956:C9'

541477

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022149

Gene Name

complement component 9

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6445327-6498751 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6445464 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 35 (M35L)

Ref Sequence

ENSEMBL: ENSMUSP00000022749 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000022749
AA Change: M35L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022749
Gene: ENSMUSG00000022149
AA Change: M35L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mboat1	T	C	13: 30,238,076	V396A	possibly damaging	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably 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
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
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
R7976:C9	UTSW	15	6483245	missense	possibly damaging	0.94
Z1177:C9	UTSW	15	6491519	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGACACTTAGCCTAAGCCAAC -3'
(R):5'- TCAGAAACTGGAGACAACCG -3'

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

Posted On

2018-11-28