Mutagenetix > Incidental Mutation

Incidental Mutation 'R6247:C6'

505730

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022181

Gene Name

complement component 6

Synonyms

MMRRC Submission

044366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6247 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4756550-4833527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4793023 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 376 (D376G)

Ref Sequence

ENSEMBL: ENSMUSP00000124417 (fasta)

Gene Model

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

AlphaFold

E9Q6D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022788
AA Change: D376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: D376G

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 damaging
Transcript: ENSMUST00000162350
AA Change: D376G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: D376G

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 damaging
Transcript: ENSMUST00000162585
AA Change: D376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: D376G

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

noncoding transcript
Transcript: ENSMUST00000162729

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,049,768 (GRCm39)	D871G	probably benign	Het
A4galt	G	T	15: 83,112,020 (GRCm39)	H254Q	probably damaging	Het
AA986860	C	A	1: 130,670,780 (GRCm39)	T334K	possibly damaging	Het
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Abcf1	C	T	17: 36,271,956 (GRCm39)	D353N	probably damaging	Het
Adss1	A	G	12: 112,594,790 (GRCm39)	H83R	probably damaging	Het
Amer2	C	A	14: 60,616,321 (GRCm39)	A172E	probably damaging	Het
Ankhd1	A	G	18: 36,787,199 (GRCm39)	T2300A	probably benign	Het
Ano5	G	A	7: 51,215,879 (GRCm39)		probably null	Het
Apob	G	A	12: 8,051,801 (GRCm39)	G1109D	probably damaging	Het
Arhgef26	A	T	3: 62,288,381 (GRCm39)	N484Y	probably damaging	Het
Caml	T	C	13: 55,772,986 (GRCm39)		probably null	Het
Capn12	T	C	7: 28,588,077 (GRCm39)	L473S	probably benign	Het
Cdk6	G	A	5: 3,394,553 (GRCm39)		probably null	Het
Cers5	A	T	15: 99,643,805 (GRCm39)	C153S	probably benign	Het
Cfap206	T	C	4: 34,692,530 (GRCm39)	M499V	probably benign	Het
Chd6	A	G	2: 160,791,968 (GRCm39)	M2463T	probably damaging	Het
Chn1	T	C	2: 73,537,350 (GRCm39)	E58G	possibly damaging	Het
Clec4a1	T	C	6: 122,905,001 (GRCm39)	V100A	probably benign	Het
Col7a1	G	C	9: 108,810,130 (GRCm39)		probably benign	Het
Csmd1	A	G	8: 16,246,249 (GRCm39)	V1050A	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dennd5a	A	T	7: 109,497,889 (GRCm39)	C1044S	probably damaging	Het
Dnah7b	A	G	1: 46,265,048 (GRCm39)	T2181A	probably benign	Het
Dnai1	T	C	4: 41,605,775 (GRCm39)	V255A	probably benign	Het
Dync2h1	A	G	9: 7,135,078 (GRCm39)	C1518R	probably damaging	Het
Dysf	T	C	6: 84,043,981 (GRCm39)	V273A	probably damaging	Het
Eif1	C	T	11: 100,211,223 (GRCm39)		probably benign	Het
Eml3	T	C	19: 8,908,313 (GRCm39)	I58T	probably benign	Het
Fam171b	T	A	2: 83,709,552 (GRCm39)	I408N	probably damaging	Het
Fchsd2	A	G	7: 100,902,747 (GRCm39)	E351G	probably benign	Het
Focad	G	A	4: 88,325,377 (GRCm39)	A81T	possibly damaging	Het
Fpr-rs4	G	A	17: 18,242,748 (GRCm39)	V252I	probably benign	Het
Fryl	A	G	5: 73,222,824 (GRCm39)	L1919P	probably damaging	Het
Gm12185	C	T	11: 48,806,735 (GRCm39)	R152H	probably damaging	Het
Gm14410	C	T	2: 176,885,517 (GRCm39)	G249E	probably damaging	Het
Gm6685	A	T	11: 28,289,706 (GRCm39)	S37T	possibly damaging	Het
Greb1	G	A	12: 16,766,676 (GRCm39)	P374L	probably damaging	Het
Hdac4	A	T	1: 91,940,560 (GRCm39)		probably null	Het
Hecw1	A	T	13: 14,409,010 (GRCm39)	L1099*	probably null	Het
Hivep1	T	C	13: 42,310,966 (GRCm39)	S1069P	probably benign	Het
Itgad	T	C	7: 127,784,959 (GRCm39)	I288T	possibly damaging	Het
Kif9	A	G	9: 110,317,612 (GRCm39)	M96V	possibly damaging	Het
Kncn	T	A	4: 115,741,987 (GRCm39)	V18E	probably damaging	Het
Lrrc74a	G	A	12: 86,805,330 (GRCm39)	G384D	probably damaging	Het
Ltb4r2	T	C	14: 56,000,108 (GRCm39)	V243A	probably damaging	Het
Mtnr1b	T	A	9: 15,774,082 (GRCm39)	I326L	probably benign	Het
Mylip	C	T	13: 45,561,957 (GRCm39)	T253I	probably damaging	Het
Necap1	T	A	6: 122,857,611 (GRCm39)		probably null	Het
Nedd4	C	T	9: 72,633,720 (GRCm39)	P409S	probably damaging	Het
Npat	A	T	9: 53,456,538 (GRCm39)	E36D	probably damaging	Het
Ovch2	C	T	7: 107,384,648 (GRCm39)	V490M	probably damaging	Het
Pax9	T	C	12: 56,756,480 (GRCm39)	S273P	probably benign	Het
Plce1	A	G	19: 38,734,289 (GRCm39)	E1563G	probably damaging	Het
Podxl2	C	A	6: 88,826,299 (GRCm39)	G336*	probably null	Het
Prdm1	A	G	10: 44,322,782 (GRCm39)		probably null	Het
Psme4	T	C	11: 30,803,245 (GRCm39)	I29T	possibly damaging	Het
Ptprd	A	T	4: 75,984,528 (GRCm39)	D780E	probably benign	Het
Retsat	T	C	6: 72,581,918 (GRCm39)	M294T	probably benign	Het
Robo2	A	T	16: 73,764,672 (GRCm39)	V652D	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Serpinb3d	G	T	1: 107,010,490 (GRCm39)	T66K	probably benign	Het
Setd1b	A	T	5: 123,296,461 (GRCm39)		probably benign	Het
Slc7a10	G	T	7: 34,886,012 (GRCm39)	A36S	possibly damaging	Het
Sstr3	T	A	15: 78,423,788 (GRCm39)	I320F	probably damaging	Het
Syne1	G	T	10: 5,299,071 (GRCm39)	A1005E	probably damaging	Het
Syngap1	C	A	17: 27,181,931 (GRCm39)	S975*	probably null	Het
Tinagl1	C	T	4: 130,066,725 (GRCm39)	C124Y	probably null	Het
Tm9sf1	C	T	14: 55,873,827 (GRCm39)	R557H	probably damaging	Het
Tmed2	T	A	5: 124,685,055 (GRCm39)	I68K	possibly damaging	Het
Tmem104	A	G	11: 115,134,819 (GRCm39)	T451A	probably benign	Het
Tmem141	T	C	2: 25,511,693 (GRCm39)		probably null	Het
Tmem184a	C	A	5: 139,798,827 (GRCm39)	V41L	probably benign	Het
Tmem39b	C	T	4: 129,580,584 (GRCm39)	V303I	possibly damaging	Het
Tsn	T	C	1: 118,232,939 (GRCm39)	I122V	probably benign	Het
Ttc41	G	T	10: 86,612,527 (GRCm39)	V1267L	probably benign	Het
Uggt1	A	T	1: 36,202,309 (GRCm39)	L1096Q	probably damaging	Het
Usp50	A	T	2: 126,617,713 (GRCm39)	I244N	probably benign	Het
Vil1	A	G	1: 74,471,498 (GRCm39)	S760G	probably benign	Het
Wasf1	T	A	10: 40,813,741 (GRCm39)	V541E	unknown	Het
Zc3h13	G	T	14: 75,581,176 (GRCm39)	S1721I	probably benign	Het
Zfp180	G	T	7: 23,804,530 (GRCm39)	K316N	probably damaging	Het
Zfp582	T	C	7: 6,356,945 (GRCm39)	C253R	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zfp759	A	G	13: 67,288,524 (GRCm39)	T692A	probably benign	Het
Zfyve26	A	G	12: 79,329,758 (GRCm39)	V476A	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTTATCAGGATCCATAAGCTG -3'
(R):5'- GACACGCAAACTTTATATGCCC -3'

Sequencing Primer
(F):5'- CAGGATCCATAAGCTGATAAAAGTC -3'
(R):5'- CACTTTTGGGATAGCATTGGAAATG -3'

Posted On

2018-02-28