Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:C8g'

74335

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

25388663-25391731 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25389089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 165 (F165L)

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: F131L

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

SMART Domains

Protein: ENSMUSP00000015227
Gene: ENSMUSG00000015083
AA Change: F131L

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: F165L

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

SMART Domains

Protein: ENSMUSP00000041855
Gene: ENSMUSG00000015083
AA Change: F165L

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: ENSMUST00000154984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148845

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153139

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 148,029,521 (GRCm39)	V497E	probably damaging	Het
Adcy7	T	G	8: 89,045,418 (GRCm39)		probably benign	Het
Aldh1a2	T	A	9: 71,193,248 (GRCm39)	F486I	possibly damaging	Het
Alox12	T	A	11: 70,145,375 (GRCm39)	H66L	probably benign	Het
Apoh	T	G	11: 108,288,187 (GRCm39)	Y102D	probably damaging	Het
Arl9	T	C	5: 77,154,401 (GRCm39)	V43A	possibly damaging	Het
Atf6	A	G	1: 170,616,175 (GRCm39)		probably null	Het
Atp4a	T	A	7: 30,412,675 (GRCm39)	I127N	possibly damaging	Het
AY358078	T	A	14: 52,043,166 (GRCm39)		probably benign	Het
Baat	T	G	4: 49,490,338 (GRCm39)	K249Q	probably damaging	Het
Brat1	C	T	5: 140,703,963 (GRCm39)	Q739*	probably null	Het
Cel	T	G	2: 28,447,967 (GRCm39)	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,546,813 (GRCm39)	T803K	unknown	Het
Cpxm1	A	G	2: 130,238,277 (GRCm39)	L95P	probably benign	Het
Ctsr	A	G	13: 61,310,489 (GRCm39)		probably benign	Het
Cyth1	A	G	11: 118,084,439 (GRCm39)		probably null	Het
Dync1h1	A	T	12: 110,583,126 (GRCm39)		probably benign	Het
Ezh1	C	T	11: 101,094,262 (GRCm39)	C407Y	probably damaging	Het
Fam243	T	C	16: 92,117,661 (GRCm39)	Y209C	probably benign	Het
Gm3696	A	T	14: 18,435,903 (GRCm39)	W38R	probably benign	Het
Gm9611	T	C	14: 42,116,622 (GRCm39)	T39A	possibly damaging	Het
Gnpat	T	A	8: 125,605,372 (GRCm39)	L287H	probably damaging	Het
Golm1	G	T	13: 59,792,958 (GRCm39)	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,798,013 (GRCm39)	M899V	probably benign	Het
Hsf3	T	A	X: 95,358,578 (GRCm39)	M272L	probably benign	Het
Kif19a	C	T	11: 114,672,625 (GRCm39)		probably benign	Het
Lcn2	T	G	2: 32,276,030 (GRCm39)	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,960,131 (GRCm39)	S180R	probably damaging	Het
Ly6h	A	G	15: 75,436,948 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,403,705 (GRCm39)	N705D	probably benign	Het
Mst1r	C	T	9: 107,785,043 (GRCm39)	P234S	probably benign	Het
Msto1	T	A	3: 88,817,939 (GRCm39)		probably null	Het
Myo5a	T	A	9: 75,094,820 (GRCm39)		probably benign	Het
Nipa1	T	C	7: 55,629,409 (GRCm39)	I235V	probably benign	Het
Nlgn3	T	C	X: 100,362,228 (GRCm39)	V399A	probably benign	Het
Or1d2	T	A	11: 74,255,738 (GRCm39)	M81K	possibly damaging	Het
Or2b28	A	G	13: 21,531,377 (GRCm39)	N93S	probably benign	Het
Pih1d1	T	C	7: 44,809,399 (GRCm39)	S289P	probably benign	Het
Ppl	T	C	16: 4,905,508 (GRCm39)	N1596D	probably benign	Het
Psmb6	T	A	11: 70,417,412 (GRCm39)	S114R	possibly damaging	Het
Pum1	C	A	4: 130,457,854 (GRCm39)	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,054,676 (GRCm39)	I75V	probably benign	Het
Slc24a3	T	A	2: 145,444,478 (GRCm39)	I284N	probably benign	Het
Slc44a3	C	T	3: 121,320,842 (GRCm39)	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,668,565 (GRCm39)	D736A	probably benign	Het
Stra6	A	G	9: 58,059,854 (GRCm39)	D605G	probably benign	Het
Tas2r126	T	A	6: 42,411,684 (GRCm39)	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,564,408 (GRCm39)	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,319,925 (GRCm39)	G14R	probably benign	Het
Ticrr	C	T	7: 79,344,209 (GRCm39)	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,184,340 (GRCm39)	N518K	probably benign	Het
Trpm4	C	A	7: 44,964,497 (GRCm39)	W533C	probably damaging	Het
Tsen54	T	C	11: 115,712,538 (GRCm39)	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,304,597 (GRCm39)	T219M	probably damaging	Het
Usp19	T	C	9: 108,376,160 (GRCm39)	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,279,616 (GRCm39)	Y43F	probably benign	Het
Vsig1	T	A	X: 139,838,429 (GRCm39)	V283E	possibly damaging	Het

Other mutations in C8g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R5864:C8g	UTSW	2	25,388,955 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-10-07