Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:C6'

93081

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000022181

Gene Name

complement component 6

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

4727175-4814967 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4759917 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 281 (I281M)

Ref Sequence

ENSEMBL: ENSMUSP00000124417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022788] [ENSMUST00000161997] [ENSMUST00000162350] [ENSMUST00000162585]

AlphaFold

E9Q6D8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022788
AA Change: I281M

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: I281M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161997

SMART Domains

Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
Blast:TSP1	197	223	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000162350
AA Change: I281M

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: I281M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART
Blast:FIMAC	859	931	1e-36	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162585
AA Change: I281M

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: I281M

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSP1	26	79	1.68e-11	SMART
TSP1	84	134	1.05e-3	SMART
LDLa	139	175	1.46e-11	SMART
MACPF	312	516	1.89e-59	SMART
TSP1	568	617	3.9e-7	SMART
CCP	644	699	1.21e-9	SMART
CCP	704	761	3.56e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the complement cascade. The encoded protein is part of the membrane attack complex that can be incorporated into the cell membrane and cause cell lysis. Mutations in this gene are associated with complement component-6 deficiency. Transcript variants encoding the same protein have been described.[provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation exhibit decreased susceptibility to ischemia reperfusion-induced renal injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,370,085	F450I	probably benign	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in C6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:C6	APN	15	4759967	missense	possibly damaging	0.53
IGL00918:C6	APN	15	4735257	missense	possibly damaging	0.90
IGL01615:C6	APN	15	4781896	missense	probably benign	0.00
IGL01662:C6	APN	15	4792754	missense	probably damaging	1.00
IGL02293:C6	APN	15	4755303	missense	probably benign	0.01
IGL02431:C6	APN	15	4759861	nonsense	probably null
IGL02568:C6	APN	15	4791164	nonsense	probably null
IGL02688:C6	APN	15	4798320	missense	probably benign	0.00
IGL02737:C6	APN	15	4796914	missense	probably benign	0.30
R0195:C6	UTSW	15	4763471	missense	probably benign	0.01
R0334:C6	UTSW	15	4755367	missense	probably benign	0.24
R0879:C6	UTSW	15	4763336	splice site	probably benign
R0940:C6	UTSW	15	4735235	missense	probably benign	0.12
R1342:C6	UTSW	15	4739749	splice site	probably benign
R1649:C6	UTSW	15	4735257	missense	possibly damaging	0.90
R1709:C6	UTSW	15	4790970	missense	probably benign	0.34
R1967:C6	UTSW	15	4759820	missense	probably damaging	0.99
R2068:C6	UTSW	15	4791070	missense	probably damaging	1.00
R3056:C6	UTSW	15	4739873	missense	probably damaging	0.99
R3791:C6	UTSW	15	4735235	missense	probably benign	0.00
R3821:C6	UTSW	15	4789584	missense	probably benign	0.23
R3895:C6	UTSW	15	4808470	missense	probably benign	0.00
R4178:C6	UTSW	15	4735139	missense	probably benign	0.02
R4440:C6	UTSW	15	4735251	missense	possibly damaging	0.90
R4598:C6	UTSW	15	4763370	missense	possibly damaging	0.55
R4632:C6	UTSW	15	4759868	missense	probably benign	0.01
R4756:C6	UTSW	15	4781912	missense	probably benign
R4879:C6	UTSW	15	4803647	splice site	probably null
R5452:C6	UTSW	15	4814829	missense	possibly damaging	0.51
R5538:C6	UTSW	15	4814829	missense	possibly damaging	0.84
R5547:C6	UTSW	15	4808488	missense	probably benign	0.00
R5790:C6	UTSW	15	4763486	missense	probably damaging	1.00
R5862:C6	UTSW	15	4735263	missense	possibly damaging	0.66
R5946:C6	UTSW	15	4808514	missense	possibly damaging	0.96
R6049:C6	UTSW	15	4735172	missense	probably damaging	1.00
R6247:C6	UTSW	15	4763541	missense	probably damaging	1.00
R6438:C6	UTSW	15	4796983	missense	possibly damaging	0.94
R6873:C6	UTSW	15	4790979	missense	probably benign	0.03
R7052:C6	UTSW	15	4733695	missense	probably damaging	0.97
R7302:C6	UTSW	15	4796950	missense	probably damaging	1.00
R7361:C6	UTSW	15	4796922	nonsense	probably null
R7481:C6	UTSW	15	4814875	missense
R7492:C6	UTSW	15	4731714	missense	probably benign	0.00
R7498:C6	UTSW	15	4763364	missense	probably damaging	1.00
R7569:C6	UTSW	15	4789581	missense	probably benign	0.01
R7653:C6	UTSW	15	4814762	missense
R7666:C6	UTSW	15	4789505	missense	probably damaging	0.99
R7843:C6	UTSW	15	4808404	missense
R8073:C6	UTSW	15	4735193	missense	probably benign	0.30
R8784:C6	UTSW	15	4793140	missense	probably damaging	1.00
R8814:C6	UTSW	15	4792784	missense	probably benign	0.00
R8825:C6	UTSW	15	4731688	missense	possibly damaging	0.79
R8878:C6	UTSW	15	4796972	missense	probably benign	0.30
R8987:C6	UTSW	15	4814862	missense
R9088:C6	UTSW	15	4763474	missense	probably damaging	1.00
R9216:C6	UTSW	15	4790983	missense	probably damaging	1.00
R9253:C6	UTSW	15	4735197	missense	probably benign	0.00
R9288:C6	UTSW	15	4806050	missense
R9517:C6	UTSW	15	4798432	missense	probably damaging	1.00

Posted On

2013-12-09