Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00918:C6'

29051

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 #

IGL00918

Quality Score

Status

Chromosome

Chromosomal Location

4756550-4833527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4764739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 145 (L145P)

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: L145P

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: L145P

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

possibly damaging
Transcript: ENSMUST00000161997
AA Change: L145P

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125358
Gene: ENSMUSG00000022181
AA Change: L145P

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

possibly damaging
Transcript: ENSMUST00000162350
AA Change: L145P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: L145P

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: L145P

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: L145P

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: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	G	A	7: 144,198,489 (GRCm39)		probably benign	Het
Cfap43	A	T	19: 47,885,100 (GRCm39)	L505H	probably damaging	Het
Irag2	A	G	6: 145,113,720 (GRCm39)	E296G	probably damaging	Het
Plekhg6	T	A	6: 125,349,514 (GRCm39)	E361V	probably null	Het
Pnp	T	A	14: 51,188,459 (GRCm39)	M233K	probably benign	Het
Ptpre	T	C	7: 135,260,782 (GRCm39)	S140P	probably damaging	Het
Rgs3	C	T	4: 62,619,304 (GRCm39)	T463I	probably damaging	Het
Rragc	T	C	4: 123,813,636 (GRCm39)		probably benign	Het
Taar6	C	A	10: 23,861,480 (GRCm39)	C22F	probably damaging	Het
Taok2	T	A	7: 126,471,583 (GRCm39)	Q532L	probably damaging	Het
Tas2r130	T	C	6: 131,607,234 (GRCm39)	N187S	probably damaging	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
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
IGL02293:C6	APN	15	4,784,785 (GRCm39)	missense	probably benign	0.01
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

2013-04-17