Mutagenetix > Incidental Mutation

Incidental Mutation 'R8784:C6'

670519

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000022181

Gene Name

complement component 6

Synonyms

MMRRC Submission

068606-MU

Accession Numbers

Essential gene?

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

Stock #

R8784 (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 4822622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 623 (C623R)

Ref Sequence

ENSEMBL: ENSMUSP00000124417 (fasta)

Gene Model

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

AlphaFold

E9Q6D8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022788
AA Change: C623R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022788
Gene: ENSMUSG00000022181
AA Change: C623R

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

SMART Domains

Protein: ENSMUSP00000125693
Gene: ENSMUSG00000022181
AA Change: C623R

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: C623R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124417
Gene: ENSMUSG00000022181
AA Change: C623R

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (87/87)

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
Abcc6	A	T	7: 45,652,025 (GRCm39)	M614K	probably benign	Het
Adamts7	G	T	9: 90,075,918 (GRCm39)	V1217L	probably null	Het
Adcyap1r1	T	A	6: 55,458,100 (GRCm39)	N300K	probably damaging	Het
Atf7ip	A	G	6: 136,576,648 (GRCm39)	D1017G	probably damaging	Het
Atg2b	A	C	12: 105,605,500 (GRCm39)	D1488E	probably damaging	Het
Atxn2	A	G	5: 121,933,091 (GRCm39)	T805A	probably benign	Het
Azi2	A	T	9: 117,884,960 (GRCm39)	H223L	probably benign	Het
Banp	T	A	8: 122,727,852 (GRCm39)	S349T	probably damaging	Het
Bicra	A	T	7: 15,705,875 (GRCm39)	I1522N	probably damaging	Het
Brca2	A	T	5: 150,472,126 (GRCm39)	R2342*	probably null	Het
Cc2d2a	T	C	5: 43,860,645 (GRCm39)	Y574H	possibly damaging	Het
Cdk5rap3	C	T	11: 96,803,212 (GRCm39)	C115Y	probably benign	Het
Chrm4	T	A	2: 91,758,033 (GRCm39)	M147K	probably benign	Het
Cit	A	T	5: 115,984,442 (GRCm39)	K5*	probably null	Het
Ciz1	T	A	2: 32,260,262 (GRCm39)	S231T	probably benign	Het
Crebrf	A	G	17: 26,961,520 (GRCm39)	I206V	probably benign	Het
Cyc1	T	C	15: 76,227,863 (GRCm39)	S34P	probably benign	Het
Dnah5	A	G	15: 28,388,097 (GRCm39)	I3185M	probably benign	Het
Dtnbp1	T	C	13: 45,075,702 (GRCm39)	D347G	unknown	Het
Dzip3	A	T	16: 48,751,628 (GRCm39)	V767E	probably damaging	Het
Gdf3	A	T	6: 122,583,279 (GRCm39)	C363S	probably damaging	Het
Glb1l	T	C	1: 75,176,975 (GRCm39)	K487R	probably damaging	Het
Gm9747	T	C	1: 82,212,002 (GRCm39)	V67A	unknown	Het
Hoxb2	A	G	11: 96,242,736 (GRCm39)	T34A	possibly damaging	Het
Ifnk	C	T	4: 35,152,383 (GRCm39)	R104C	probably damaging	Het
Igfbp1	A	T	11: 7,151,952 (GRCm39)	I252F	probably damaging	Het
Ighv1-74	T	C	12: 115,766,480 (GRCm39)	T47A	probably benign	Het
Igkv4-62	A	T	6: 69,376,946 (GRCm39)	W68R	probably damaging	Het
Il23r	A	G	6: 67,443,401 (GRCm39)	I234T	probably damaging	Het
Ints2	T	A	11: 86,112,963 (GRCm39)	I852F	probably damaging	Het
Ints2	G	A	11: 86,115,941 (GRCm39)	Q763*	probably null	Het
Jhy	T	G	9: 40,872,182 (GRCm39)	H109P	probably benign	Het
Katna1	T	A	10: 7,614,579 (GRCm39)	V29D	possibly damaging	Het
Kcng4	T	A	8: 120,352,970 (GRCm39)	E313D	probably benign	Het
Klf14	T	A	6: 30,935,049 (GRCm39)	H195L	probably damaging	Het
Lama3	A	G	18: 12,554,212 (GRCm39)	N472S	probably benign	Het
Layn	A	T	9: 50,970,781 (GRCm39)	V254E	possibly damaging	Het
Lrba	A	T	3: 86,283,235 (GRCm39)	S1850C	probably damaging	Het
Map1s	A	G	8: 71,358,909 (GRCm39)	I2V	unknown	Het
Map3k12	T	A	15: 102,413,797 (GRCm39)	Q58L	possibly damaging	Het
Minpp1	T	C	19: 32,491,396 (GRCm39)	V358A	probably benign	Het
Mymk	C	G	2: 26,961,947 (GRCm39)	K27N	possibly damaging	Het
Nek8	T	C	11: 78,063,375 (GRCm39)	K130E	probably damaging	Het
Ngef	T	A	1: 87,405,293 (GRCm39)	S706C	probably damaging	Het
Nsun6	G	A	2: 15,001,306 (GRCm39)	Q417*	probably null	Het
Ntsr2	G	T	12: 16,706,852 (GRCm39)	Q293H	probably damaging	Het
Ocln	T	A	13: 100,676,050 (GRCm39)	I148F	probably damaging	Het
Or12d12	A	G	17: 37,610,701 (GRCm39)	I204T	probably benign	Het
Or4p19	A	T	2: 88,242,091 (GRCm39)	Y304N	probably benign	Het
Or8g30	T	A	9: 39,229,989 (GRCm39)	Q307L	probably benign	Het
Pank3	T	G	11: 35,672,412 (GRCm39)	F272V	probably damaging	Het
Piezo1	A	T	8: 123,223,328 (GRCm39)		probably benign	Het
Plppr4	G	A	3: 117,116,190 (GRCm39)	R556*	probably null	Het
Polr1a	G	T	6: 71,927,612 (GRCm39)	R821L	probably benign	Het
Ppp1r36	C	T	12: 76,485,967 (GRCm39)	T375I	probably benign	Het
Ptprj	T	A	2: 90,290,856 (GRCm39)	I628F	possibly damaging	Het
Puf60	C	A	15: 75,949,525 (GRCm39)	V29F	unknown	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf1	A	G	9: 107,435,041 (GRCm39)	S179G	probably benign	Het
Rbm6	A	G	9: 107,665,337 (GRCm39)	S772P	possibly damaging	Het
Rnf103	T	G	6: 71,486,982 (GRCm39)	S538A	probably benign	Het
Scoc	C	A	8: 84,164,245 (GRCm39)	V58L	probably benign	Het
Secisbp2l	G	A	2: 125,602,263 (GRCm39)	Q366*	probably null	Het
Slc16a14	T	C	1: 84,890,784 (GRCm39)	T174A	probably benign	Het
Slc25a22	A	C	7: 141,011,020 (GRCm39)	*324G	probably null	Het
Smarca2	C	T	19: 26,753,558 (GRCm39)	T197I	probably benign	Het
Speg	T	C	1: 75,381,793 (GRCm39)		probably benign	Het
Srgap2	T	A	1: 131,223,212 (GRCm39)	N858I	unknown	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Tbc1d22b	T	C	17: 29,818,918 (GRCm39)	I424T	probably damaging	Het
Tcaf1	T	G	6: 42,656,221 (GRCm39)	T252P	probably benign	Het
Thbs1	A	G	2: 117,943,613 (GRCm39)	D77G	probably damaging	Het
Tlcd3a	T	C	11: 76,098,941 (GRCm39)	F237S	probably damaging	Het
Trim21	T	C	7: 102,208,675 (GRCm39)	E348G	probably benign	Het
Trpm3	A	G	19: 22,896,040 (GRCm39)	D959G	probably benign	Het
Ttc24	A	T	3: 87,980,033 (GRCm39)	C182*	probably null	Het
Tti1	T	C	2: 157,850,514 (GRCm39)	T242A	probably benign	Het
Ube2q2l	G	A	6: 136,378,729 (GRCm39)	Q34*	probably null	Het
Ube3b	G	T	5: 114,526,800 (GRCm39)	C100F	probably damaging	Het
Vmn1r26	T	A	6: 57,985,440 (GRCm39)	T250S	possibly damaging	Het
Vnn1	A	G	10: 23,780,526 (GRCm39)	T505A	probably benign	Het
Vps13a	C	A	19: 16,642,153 (GRCm39)	W2158L	probably damaging	Het
Vwa1	A	T	4: 155,857,345 (GRCm39)	V151E	probably damaging	Het
Zfp14	A	G	7: 29,742,961 (GRCm39)	S46P	probably damaging	Het
Zfp773	C	A	7: 7,135,570 (GRCm39)	C342F	probably benign	Het
Zscan12	T	A	13: 21,547,991 (GRCm39)	S58T	possibly 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
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'- CACTGGTTTGCATTTACCGC -3'
(R):5'- AGCATTTCTGGATGTTCCCTTG -3'

Sequencing Primer
(F):5'- ACCGCTGTTAGTTGAGAAATGC -3'
(R):5'- TTGAGTCGGCATATTATTAAAGTAGG -3'

Posted On

2021-04-30