Mutagenetix > Incidental Mutation

Incidental Mutation 'R8987:C6'

684154

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022181

Gene Name

complement component 6

Synonyms

MMRRC Submission

068819-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R8987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4756550-4833527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4844344 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 922 (I922T)

Ref Sequence

ENSEMBL: ENSMUSP00000125693 (fasta)

Gene Model

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

AlphaFold

E9Q6D8

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: I922T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

96% (123/128)

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	C	5: 113,830,813 (GRCm39)	K59R	unknown	Het
Abcb4	T	C	5: 8,977,931 (GRCm39)	V503A	probably benign	Het
Actn4	A	G	7: 28,596,398 (GRCm39)	V699A	probably benign	Het
Adam26a	T	A	8: 44,022,358 (GRCm39)	K377N	probably benign	Het
Adam6b	C	T	12: 113,454,748 (GRCm39)	R522C	probably damaging	Het
Ahi1	A	G	10: 20,839,683 (GRCm39)	Y198C	probably damaging	Het
Ankrd44	G	A	1: 54,700,349 (GRCm39)	Q720*	probably null	Het
Arhgap26	A	T	18: 39,490,652 (GRCm39)	M297L		Het
Arhgef11	C	T	3: 87,637,788 (GRCm39)	T1093I	probably damaging	Het
Arhgef25	C	A	10: 127,018,735 (GRCm39)	R609S	probably damaging	Het
Arhgef28	G	T	13: 98,190,472 (GRCm39)	H162Q	possibly damaging	Het
Atg4b	A	G	1: 93,706,081 (GRCm39)	E178G	possibly damaging	Het
Atxn1l	T	C	8: 110,459,117 (GRCm39)	T382A	probably benign	Het
Bdp1	A	G	13: 100,204,021 (GRCm39)	V667A	probably benign	Het
Ccdc191	A	G	16: 43,751,710 (GRCm39)	T347A	probably benign	Het
Cd22	G	T	7: 30,577,172 (GRCm39)	P45H	probably damaging	Het
Cdc45	A	G	16: 18,630,300 (GRCm39)	F6L	probably benign	Het
Cenpj	T	C	14: 56,764,383 (GRCm39)	E1343G	possibly damaging	Het
Chtf8	T	A	8: 107,612,735 (GRCm39)	N68I	probably benign	Het
Cldn8	C	T	16: 88,359,733 (GRCm39)	C64Y	probably damaging	Het
Cntnap2	G	T	6: 46,460,983 (GRCm39)	S673I	probably benign	Het
Cyp3a13	C	T	5: 137,909,849 (GRCm39)	R158K	probably benign	Het
Cyp3a57	A	T	5: 145,311,039 (GRCm39)		probably null	Het
Cyp3a57	G	T	5: 145,311,040 (GRCm39)		probably null	Het
D630045J12Rik	A	G	6: 38,173,898 (GRCm39)	I90T	probably benign	Het
Dapk2	A	G	9: 66,157,602 (GRCm39)		probably benign	Het
Dmxl1	A	G	18: 50,026,919 (GRCm39)	D2009G		Het
Dnah1	C	T	14: 31,033,704 (GRCm39)	V290I	possibly damaging	Het
Doc2g	A	T	19: 4,054,511 (GRCm39)		probably null	Het
Dpysl2	C	T	14: 67,045,402 (GRCm39)	G457D	probably damaging	Het
Drc1	A	T	5: 30,521,439 (GRCm39)	Y700F	probably damaging	Het
Ehbp1	A	G	11: 22,003,531 (GRCm39)	Y1073H	probably damaging	Het
Epm2aip1	T	A	9: 111,101,036 (GRCm39)	M3K	probably benign	Het
Erich3	G	A	3: 154,415,340 (GRCm39)	R152Q		Het
Exoc5	C	T	14: 49,252,986 (GRCm39)	R609H	probably damaging	Het
Fam135b	T	A	15: 71,334,189 (GRCm39)	T1002S	probably benign	Het
Fanca	C	T	8: 124,024,538 (GRCm39)	E528K	probably damaging	Het
Fsd2	C	A	7: 81,209,766 (GRCm39)	M25I	probably benign	Het
Fyco1	T	C	9: 123,658,139 (GRCm39)	E679G	possibly damaging	Het
Gas6	T	A	8: 13,520,294 (GRCm39)	M465L	probably damaging	Het
Gfra3	A	G	18: 34,823,879 (GRCm39)	V365A	probably benign	Het
Gm10269	T	G	18: 20,815,981 (GRCm39)	K14Q	possibly damaging	Het
Gm21798	G	A	15: 64,689,756 (GRCm39)		probably null	Het
Gm5916	T	A	9: 36,032,286 (GRCm39)	R49S	probably benign	Het
Gpam	G	T	19: 55,072,227 (GRCm39)	T266N	possibly damaging	Het
Gtse1	A	G	15: 85,753,109 (GRCm39)	E408G	probably benign	Het
Hmgcll1	A	T	9: 76,037,592 (GRCm39)		probably null	Het
Hspa12a	T	A	19: 58,787,903 (GRCm39)	R640*	probably null	Het
Hspa9	T	C	18: 35,080,982 (GRCm39)	D233G	probably damaging	Het
Htt	T	G	5: 34,977,368 (GRCm39)	I751M	probably benign	Het
Hydin	T	A	8: 111,239,766 (GRCm39)	Y2015*	probably null	Het
Ift43	A	C	12: 86,208,275 (GRCm39)	M138L	probably benign	Het
Il11	C	T	7: 4,779,029 (GRCm39)	V93M	probably damaging	Het
Iws1	T	A	18: 32,226,645 (GRCm39)	F741L	possibly damaging	Het
Jmy	A	T	13: 93,589,397 (GRCm39)	I620N	probably damaging	Het
Kap	T	A	6: 133,830,689 (GRCm39)		probably benign	Het
Kcnk15	A	G	2: 163,700,217 (GRCm39)	N152S	probably damaging	Het
Kif16b	C	T	2: 142,691,783 (GRCm39)		probably null	Het
Kif16b	T	C	2: 142,743,278 (GRCm39)	K5R	probably benign	Het
Kirrel1	C	T	3: 86,992,400 (GRCm39)	R555H	probably damaging	Het
Krt36	A	G	11: 99,994,372 (GRCm39)	V235A	possibly damaging	Het
Lca5	A	G	9: 83,283,796 (GRCm39)	S246P	probably damaging	Het
Maml1	T	C	11: 50,157,575 (GRCm39)	D200G	probably damaging	Het
Maml3	T	C	3: 51,597,868 (GRCm39)	R939G	probably damaging	Het
Mgam	A	T	6: 40,706,570 (GRCm39)	T74S	probably damaging	Het
Mib2	G	T	4: 155,745,351 (GRCm39)	D125E	probably benign	Het
Muc16	A	T	9: 18,462,981 (GRCm39)	L7407*	probably null	Het
Mycbp2	A	T	14: 103,446,232 (GRCm39)	N1865K	probably damaging	Het
Naip1	A	G	13: 100,563,434 (GRCm39)	L577S	probably damaging	Het
Nell1	A	T	7: 50,498,399 (GRCm39)	D652V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nxph1	G	A	6: 8,950,312 (GRCm39)		probably benign	Het
Oas1h	T	A	5: 121,005,152 (GRCm39)	I200N	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,867 (GRCm39)	L122P	probably damaging	Het
Or2h2b-ps1	A	T	17: 37,480,990 (GRCm39)	I81N	probably damaging	Het
Or8g53	A	T	9: 39,683,688 (GRCm39)	M136K	probably benign	Het
Otog	A	T	7: 45,936,878 (GRCm39)	Q1529L	probably benign	Het
Otop1	A	T	5: 38,457,071 (GRCm39)	I277F	probably damaging	Het
Pax5	G	A	4: 44,645,661 (GRCm39)	Q223*	probably null	Het
Pcdha9	T	A	18: 37,132,998 (GRCm39)	I689N	probably benign	Het
Pcsk6	A	T	7: 65,576,975 (GRCm39)	R138*	probably null	Het
Pitpnm3	A	T	11: 72,003,132 (GRCm39)	N59K	probably damaging	Het
Pla2g4d	G	A	2: 120,100,442 (GRCm39)	T630I	probably damaging	Het
Plekhg5	T	A	4: 152,188,372 (GRCm39)		probably benign	Het
Plxnb1	T	A	9: 108,937,178 (GRCm39)		probably benign	Het
Prss28	T	A	17: 25,528,395 (GRCm39)	L6H	probably damaging	Het
Pyroxd1	T	A	6: 142,302,251 (GRCm39)	V228E		Het
Ripk2	G	A	4: 16,123,699 (GRCm39)	T492M	possibly damaging	Het
Satb1	A	T	17: 52,112,381 (GRCm39)	C78S	probably damaging	Het
Scaf11	A	T	15: 96,316,557 (GRCm39)	C1002*	probably null	Het
Scarf2	A	C	16: 17,622,768 (GRCm39)	Q499P	probably damaging	Het
Selenbp1	T	A	3: 94,847,425 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,806,647 (GRCm39)	N921S	probably benign	Het
Slc25a1	A	T	16: 17,743,744 (GRCm39)	V290E	probably damaging	Het
Slc28a3	C	T	13: 58,719,254 (GRCm39)		probably benign	Het
Slc35b4	A	T	6: 34,137,442 (GRCm39)	D213E	probably benign	Het
Slc40a1	A	C	1: 45,950,495 (GRCm39)	M319R	probably damaging	Het
Slc8a1	A	T	17: 81,955,282 (GRCm39)	F585L	possibly damaging	Het
Slco3a1	T	A	7: 73,970,324 (GRCm39)	N428Y	possibly damaging	Het
Slfn2	G	A	11: 82,960,363 (GRCm39)	C114Y	probably damaging	Het
Smg5	T	C	3: 88,267,714 (GRCm39)		probably null	Het
Spata13	T	A	14: 60,993,896 (GRCm39)	L1116Q	possibly damaging	Het
Spmap1	C	T	11: 97,666,510 (GRCm39)	V59M	probably damaging	Het
Syne1	A	G	10: 5,177,579 (GRCm39)	V4965A	possibly damaging	Het
Tacc3	G	T	5: 33,826,169 (GRCm39)	V472F	possibly damaging	Het
Tacr3	T	A	3: 134,560,573 (GRCm39)	Y171N	probably damaging	Het
Tacr3	T	G	3: 134,560,718 (GRCm39)	L219R	probably damaging	Het
Tbx3	C	A	5: 119,818,886 (GRCm39)	A507E	possibly damaging	Het
Telo2	A	T	17: 25,324,402 (GRCm39)	D494E	probably damaging	Het
Tfip11	T	C	5: 112,484,921 (GRCm39)	F744S	possibly damaging	Het
Tgm3	A	C	2: 129,880,403 (GRCm39)	N403T	probably benign	Het
Thoc3	A	T	13: 54,615,708 (GRCm39)	S119T	possibly damaging	Het
Tmem176b	A	T	6: 48,812,530 (GRCm39)	I145N	probably damaging	Het
Trio	T	A	15: 27,732,773 (GRCm39)	Q3036L	probably benign	Het
Trpc4	T	C	3: 54,102,132 (GRCm39)	V10A	probably benign	Het
Trpm3	A	G	19: 22,896,124 (GRCm39)	Y987C	probably damaging	Het
Tspoap1	A	G	11: 87,654,394 (GRCm39)	K225E	probably damaging	Het
Txnrd3	A	T	6: 89,638,477 (GRCm39)	Q222L	possibly damaging	Het
Usp34	A	T	11: 23,414,267 (GRCm39)	M2756L		Het
Vmn2r81	C	T	10: 79,129,704 (GRCm39)	T865I	probably damaging	Het
Vnn1	A	G	10: 23,776,714 (GRCm39)	Y355C	probably damaging	Het
Wipf2	A	T	11: 98,783,092 (GRCm39)	S173C	probably damaging	Het
Wnt1	A	T	15: 98,689,624 (GRCm39)	H137L	probably damaging	Het
Xylt2	A	T	11: 94,561,278 (GRCm39)	C162S	probably damaging	Het
Zfp426	T	C	9: 20,387,744 (GRCm39)	E33G	probably damaging	Het
Zfp811	A	C	17: 33,017,801 (GRCm39)	C80G	possibly damaging	Het
Zfp931	T	C	2: 177,709,591 (GRCm39)	H265R	probably damaging	Het
Zfp931	G	A	2: 177,709,592 (GRCm39)	H265Y	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
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
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
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'- GATTGTCTGTGGTGCCTCAC -3'
(R):5'- GCCCAGCAATTTATGACTATGCC -3'

Sequencing Primer
(F):5'- ACACTGTCTCTTCCCTTGAAGC -3'
(R):5'- ATGACTATGCCAGTTTACTCTACG -3'

Posted On

2021-10-11