Mutagenetix > Incidental Mutation

Incidental Mutation 'R5864:C8g'

490488

Institutional Source

Beutler Lab

Gene Symbol

C8g

Ensembl Gene

ENSMUSG00000015083

Gene Name

complement component 8, gamma polypeptide

Synonyms

1700013L23Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5864 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25388663-25391731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 25388955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 186 (G186D)

Ref Sequence

ENSEMBL: ENSMUSP00000041855 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015227] [ENSMUST00000015239] [ENSMUST00000040042] [ENSMUST00000124375]

AlphaFold

Q8VCG4

Predicted Effect

probably damaging
Transcript: ENSMUST00000015227
AA Change: G152D

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

SMART Domains

Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
AA Change: G152D

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	14	152	3.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000015239

SMART Domains

Protein: ENSMUSP00000015239
Gene: ENSMUSG00000015095

Domain	Start	End	E-Value	Type
FBOX	9	49	7.7e-6	SMART
WD40	81	120	3.11e-10	SMART
WD40	456	500	1.98e1	SMART
WD40	503	542	6.28e-6	SMART
low complexity region	553	563	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000040042
AA Change: G186D

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

SMART Domains

Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083
AA Change: G186D

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Lipocalin	48	186	3e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124258

Predicted Effect

probably benign
Transcript: ENSMUST00000124375

SMART Domains

Protein: ENSMUSP00000117676
Gene: ENSMUSG00000015095

Domain	Start	End	E-Value	Type
SCOP:d1jjub_	116	246	1e-11	SMART
Blast:WD40	172	216	2e-25	BLAST
Blast:WD40	219	246	7e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126601

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129104

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135456

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a secreted protein that is a core component of the complement 8 (C8) complex. C8 is part of the membrane attack complex which participates in the innate immune response against bacterial pathogens. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	T	12: 84,090,178 (GRCm39)	I292F	probably benign	Het
Adamdec1	A	G	14: 68,807,551 (GRCm39)	S370P	probably damaging	Het
Ankar	T	C	1: 72,698,324 (GRCm39)	K692R	probably benign	Het
Ano6	T	C	15: 95,818,261 (GRCm39)		probably null	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Bbs12	C	T	3: 37,373,639 (GRCm39)	T144I	probably damaging	Het
Clptm1l	T	C	13: 73,754,403 (GRCm39)	F109S	probably damaging	Het
Coa8	G	A	12: 111,717,652 (GRCm39)	V171I	probably benign	Het
Col4a1	G	A	8: 11,252,973 (GRCm39)		probably benign	Het
Cpn2	T	C	16: 30,078,501 (GRCm39)	D400G	probably damaging	Het
Dgke	G	C	11: 88,941,288 (GRCm39)	Y298*	probably null	Het
Dnah5	G	A	15: 28,297,159 (GRCm39)	R1451Q	possibly damaging	Het
Dock8	A	G	19: 25,038,584 (GRCm39)	D90G	probably damaging	Het
Dok7	A	C	5: 35,223,890 (GRCm39)	D143A	probably damaging	Het
Elk3	G	A	10: 93,120,653 (GRCm39)	A62V	probably damaging	Het
Epha2	T	A	4: 141,035,738 (GRCm39)	M58K	probably damaging	Het
Erp27	G	T	6: 136,885,098 (GRCm39)	D233E	probably benign	Het
Gm5174	T	A	10: 86,493,045 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,107 (GRCm39)	D214G	probably damaging	Het
Hrob	G	A	11: 102,145,972 (GRCm39)	E83K	probably benign	Het
Ifi35	A	T	11: 101,349,069 (GRCm39)	I238F	probably damaging	Het
Ighmbp2	T	C	19: 3,311,467 (GRCm39)	T983A	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Lrp1	C	A	10: 127,403,374 (GRCm39)	K2066N	possibly damaging	Het
Mansc1	T	G	6: 134,587,816 (GRCm39)		probably null	Het
Mapre3	T	C	5: 31,020,582 (GRCm39)	F101S	probably damaging	Het
Mettl8	T	C	2: 70,812,357 (GRCm39)	T58A	probably benign	Het
Mical1	G	T	10: 41,362,064 (GRCm39)	R857L	possibly damaging	Het
Nacad	T	C	11: 6,550,581 (GRCm39)	D870G	probably benign	Het
Nectin1	A	G	9: 43,702,607 (GRCm39)	D118G	probably damaging	Het
Nlrp2	A	T	7: 5,325,380 (GRCm39)	L26Q	probably damaging	Het
Or10a3m	A	G	7: 108,312,671 (GRCm39)	D25G	probably benign	Het
Pamr1	T	C	2: 102,464,693 (GRCm39)	S281P	possibly damaging	Het
Pcdhgc5	T	A	18: 37,954,814 (GRCm39)	V696E	probably damaging	Het
Pde4d	G	T	13: 110,074,582 (GRCm39)	A396S	probably benign	Het
Pecam1	G	T	11: 106,575,076 (GRCm39)	C510*	probably null	Het
Pga5	C	T	19: 10,652,513 (GRCm39)	G76S	probably damaging	Het
Phldb3	A	T	7: 24,323,571 (GRCm39)	H435L	possibly damaging	Het
Piezo1	T	C	8: 123,213,112 (GRCm39)	R1884G	possibly damaging	Het
Ripk4	T	C	16: 97,564,782 (GRCm39)	H43R	probably damaging	Het
Rtn3	A	G	19: 7,412,476 (GRCm39)	V785A	probably damaging	Het
Safb2	A	G	17: 56,873,491 (GRCm39)		probably benign	Het
Sephs1	T	C	2: 4,910,393 (GRCm39)	F288L	probably damaging	Het
Sez6l	A	G	5: 112,586,266 (GRCm39)		probably null	Het
Siglece	A	G	7: 43,308,741 (GRCm39)	L204P	probably damaging	Het
Sis	T	C	3: 72,857,151 (GRCm39)	D380G	probably damaging	Het
Slamf9	G	T	1: 172,304,033 (GRCm39)	R126L	probably benign	Het
Sorl1	A	G	9: 42,003,669 (GRCm39)	L209P	probably damaging	Het
Sptbn1	A	C	11: 30,095,925 (GRCm39)	I310S	probably damaging	Het
Tex52	A	G	6: 128,356,645 (GRCm39)	T113A	probably benign	Het
Trav6-3	T	A	14: 53,667,628 (GRCm39)	Y33*	probably null	Het
Vmn2r102	A	G	17: 19,914,943 (GRCm39)	E836G	possibly damaging	Het
Wdsub1	C	T	2: 59,708,819 (GRCm39)	C18Y	probably damaging	Het
Zfp341	C	A	2: 154,485,474 (GRCm39)	H637N	possibly damaging	Het
Zfp445	C	T	9: 122,682,552 (GRCm39)	S463N	probably benign	Het
Zfp612	G	A	8: 110,816,358 (GRCm39)	D522N	probably damaging	Het

Other mutations in C8g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:C8g	APN	2	25,389,089 (GRCm39)	missense	probably damaging	1.00
IGL02176:C8g	APN	2	25,389,122 (GRCm39)	missense	probably damaging	1.00
IGL03002:C8g	APN	2	25,388,823 (GRCm39)	makesense	probably null
IGL03402:C8g	APN	2	25,388,824 (GRCm39)	makesense	probably null
R1466:C8g	UTSW	2	25,390,228 (GRCm39)	missense	probably benign	0.00
R1466:C8g	UTSW	2	25,390,228 (GRCm39)	missense	probably benign	0.00
R1584:C8g	UTSW	2	25,390,228 (GRCm39)	missense	probably benign	0.00
R1782:C8g	UTSW	2	25,389,094 (GRCm39)	missense	possibly damaging	0.58
R4063:C8g	UTSW	2	25,389,425 (GRCm39)	missense	probably damaging	0.99
R9601:C8g	UTSW	2	25,388,916 (GRCm39)	critical splice donor site	probably null
X0060:C8g	UTSW	2	25,389,986 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAACTCTCTGAGGGTAGCC -3'
(R):5'- GTTCCCTGCCATGTTGAAAGC -3'

Sequencing Primer
(F):5'- GGGTAGCCCACTGTCCACAG -3'
(R):5'- CCATGTTGAAAGCACTGGAACTCTG -3'

Posted On

2017-10-20