Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02293:C6'

290117

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: 0.107) question?

Stock #

IGL02293

Quality Score

Status

Chromosome

Chromosomal Location

4756550-4833527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4784785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 217 (I217K)

Ref Sequence

ENSEMBL: ENSMUSP00000125693 (fasta)

Gene Model

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

AlphaFold

E9Q6D8

Predicted Effect

probably benign
Transcript: ENSMUST00000022788
AA Change: I217K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: I217K

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
AA Change: I217K

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

SMART Domains

Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
AA Change: I217K

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: I217K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: I217K

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

probably benign
Transcript: ENSMUST00000162585
AA Change: I217K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: I217K

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,340 (GRCm39)	K135R	probably benign	Het
Ahdc1	C	T	4: 132,792,929 (GRCm39)	A1390V	possibly damaging	Het
Aldh1a2	A	G	9: 71,192,559 (GRCm39)		probably null	Het
Bltp2	T	A	11: 78,162,736 (GRCm39)	L866H	probably damaging	Het
Ccr1l1	G	A	9: 123,777,973 (GRCm39)	T158I	possibly damaging	Het
Dnah6	A	T	6: 73,110,633 (GRCm39)		probably benign	Het
Ect2l	A	G	10: 18,016,259 (GRCm39)		probably null	Het
Eif1ad11	A	G	12: 87,994,033 (GRCm39)	N87S	probably benign	Het
Endov	T	C	11: 119,395,999 (GRCm39)		probably benign	Het
Fpr-rs7	A	G	17: 20,334,232 (GRCm39)	V86A	probably benign	Het
Gle1	A	G	2: 29,847,772 (GRCm39)	I660V	probably benign	Het
Hk2	A	T	6: 82,720,956 (GRCm39)	D159E	probably benign	Het
Hmcn1	A	G	1: 150,540,666 (GRCm39)	V2881A	probably damaging	Het
Hspa14	T	C	2: 3,512,071 (GRCm39)	K68E	probably damaging	Het
Ifi207	A	T	1: 173,551,314 (GRCm39)	I974N	probably damaging	Het
Igkv4-71	A	C	6: 69,220,306 (GRCm39)	S42A	possibly damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Klhl32	A	G	4: 24,626,935 (GRCm39)	Y555H	probably damaging	Het
Lmbrd2	T	C	15: 9,172,276 (GRCm39)	S357P	probably benign	Het
Mfsd1	T	A	3: 67,505,425 (GRCm39)	V380D	probably damaging	Het
Ndc80	A	G	17: 71,821,273 (GRCm39)	F225S	probably damaging	Het
Or2ak7	T	C	11: 58,574,996 (GRCm39)	V99A	probably benign	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Plxnd1	A	G	6: 115,940,874 (GRCm39)	V1355A	probably damaging	Het
Prkd1	A	G	12: 50,536,761 (GRCm39)	S108P	probably damaging	Het
Ptges3	C	T	10: 127,911,204 (GRCm39)		probably benign	Het
Rabggta	G	T	14: 55,959,153 (GRCm39)	L5M	probably benign	Het
Rag1	C	T	2: 101,473,391 (GRCm39)	D584N	probably benign	Het
Rasl12	A	G	9: 65,315,593 (GRCm39)	D79G	probably benign	Het
Rhoj	A	G	12: 75,422,186 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,666,268 (GRCm39)	L483P	probably benign	Het

Other mutations in C6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:C6	APN	15	4,789,449 (GRCm39)	missense	possibly damaging	0.53
IGL00918:C6	APN	15	4,764,739 (GRCm39)	missense	possibly damaging	0.90
IGL01615:C6	APN	15	4,811,378 (GRCm39)	missense	probably benign	0.00
IGL01637:C6	APN	15	4,789,399 (GRCm39)	missense	possibly damaging	0.69
IGL01662:C6	APN	15	4,822,236 (GRCm39)	missense	probably damaging	1.00
IGL02431:C6	APN	15	4,789,343 (GRCm39)	nonsense	probably null
IGL02568:C6	APN	15	4,820,646 (GRCm39)	nonsense	probably null
IGL02688:C6	APN	15	4,827,802 (GRCm39)	missense	probably benign	0.00
IGL02737:C6	APN	15	4,826,396 (GRCm39)	missense	probably benign	0.30
R0195:C6	UTSW	15	4,792,953 (GRCm39)	missense	probably benign	0.01
R0334:C6	UTSW	15	4,784,849 (GRCm39)	missense	probably benign	0.24
R0879:C6	UTSW	15	4,792,818 (GRCm39)	splice site	probably benign
R0940:C6	UTSW	15	4,764,717 (GRCm39)	missense	probably benign	0.12
R1342:C6	UTSW	15	4,769,231 (GRCm39)	splice site	probably benign
R1649:C6	UTSW	15	4,764,739 (GRCm39)	missense	possibly damaging	0.90
R1709:C6	UTSW	15	4,820,452 (GRCm39)	missense	probably benign	0.34
R1967:C6	UTSW	15	4,789,302 (GRCm39)	missense	probably damaging	0.99
R2068:C6	UTSW	15	4,820,552 (GRCm39)	missense	probably damaging	1.00
R3056:C6	UTSW	15	4,769,355 (GRCm39)	missense	probably damaging	0.99
R3791:C6	UTSW	15	4,764,717 (GRCm39)	missense	probably benign	0.00
R3821:C6	UTSW	15	4,819,066 (GRCm39)	missense	probably benign	0.23
R3895:C6	UTSW	15	4,837,952 (GRCm39)	missense	probably benign	0.00
R4178:C6	UTSW	15	4,764,621 (GRCm39)	missense	probably benign	0.02
R4440:C6	UTSW	15	4,764,733 (GRCm39)	missense	possibly damaging	0.90
R4598:C6	UTSW	15	4,792,852 (GRCm39)	missense	possibly damaging	0.55
R4632:C6	UTSW	15	4,789,350 (GRCm39)	missense	probably benign	0.01
R4756:C6	UTSW	15	4,811,394 (GRCm39)	missense	probably benign
R4879:C6	UTSW	15	4,833,129 (GRCm39)	splice site	probably null
R5452:C6	UTSW	15	4,844,311 (GRCm39)	missense	possibly damaging	0.51
R5538:C6	UTSW	15	4,844,311 (GRCm39)	missense	possibly damaging	0.84
R5547:C6	UTSW	15	4,837,970 (GRCm39)	missense	probably benign	0.00
R5790:C6	UTSW	15	4,792,968 (GRCm39)	missense	probably damaging	1.00
R5862:C6	UTSW	15	4,764,745 (GRCm39)	missense	possibly damaging	0.66
R5946:C6	UTSW	15	4,837,996 (GRCm39)	missense	possibly damaging	0.96
R6049:C6	UTSW	15	4,764,654 (GRCm39)	missense	probably damaging	1.00
R6247:C6	UTSW	15	4,793,023 (GRCm39)	missense	probably damaging	1.00
R6438:C6	UTSW	15	4,826,465 (GRCm39)	missense	possibly damaging	0.94
R6873:C6	UTSW	15	4,820,461 (GRCm39)	missense	probably benign	0.03
R7052:C6	UTSW	15	4,763,177 (GRCm39)	missense	probably damaging	0.97
R7302:C6	UTSW	15	4,826,432 (GRCm39)	missense	probably damaging	1.00
R7361:C6	UTSW	15	4,826,404 (GRCm39)	nonsense	probably null
R7481:C6	UTSW	15	4,844,357 (GRCm39)	missense
R7492:C6	UTSW	15	4,761,196 (GRCm39)	missense	probably benign	0.00
R7498:C6	UTSW	15	4,792,846 (GRCm39)	missense	probably damaging	1.00
R7569:C6	UTSW	15	4,819,063 (GRCm39)	missense	probably benign	0.01
R7653:C6	UTSW	15	4,844,244 (GRCm39)	missense
R7666:C6	UTSW	15	4,818,987 (GRCm39)	missense	probably damaging	0.99
R7843:C6	UTSW	15	4,837,886 (GRCm39)	missense
R8073:C6	UTSW	15	4,764,675 (GRCm39)	missense	probably benign	0.30
R8784:C6	UTSW	15	4,822,622 (GRCm39)	missense	probably damaging	1.00
R8814:C6	UTSW	15	4,822,266 (GRCm39)	missense	probably benign	0.00
R8825:C6	UTSW	15	4,761,170 (GRCm39)	missense	possibly damaging	0.79
R8878:C6	UTSW	15	4,826,454 (GRCm39)	missense	probably benign	0.30
R8987:C6	UTSW	15	4,844,344 (GRCm39)	missense
R9088:C6	UTSW	15	4,792,956 (GRCm39)	missense	probably damaging	1.00
R9216:C6	UTSW	15	4,820,465 (GRCm39)	missense	probably damaging	1.00
R9253:C6	UTSW	15	4,764,679 (GRCm39)	missense	probably benign	0.00
R9288:C6	UTSW	15	4,835,532 (GRCm39)	missense
R9517:C6	UTSW	15	4,827,914 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16