Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01309:C3'

73611

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

complement factor 3, acylation stimulating protein, Plp

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01309

Quality Score

Status

Chromosome

Chromosomal Location

57203970-57228136 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 57209652 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024988] [ENSMUST00000177425]

Predicted Effect

probably benign
Transcript: ENSMUST00000024988

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164

Domain	Start	End	E-Value	Type
low complexity region	4	23	N/A	INTRINSIC
Pfam:A2M_N	130	225	3.8e-17	PFAM
A2M_N_2	456	604	5.22e-38	SMART
ANATO	693	728	5.69e-15	SMART
low complexity region	752	762	N/A	INTRINSIC
A2M	770	866	5.47e-32	SMART
Pfam:Thiol-ester_cl	1000	1028	4.6e-15	PFAM
Pfam:A2M_comp	1051	1284	7.3e-60	PFAM
A2M_recep	1398	1493	3.98e-43	SMART
C345C	1533	1645	1.85e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000177046

Predicted Effect

probably benign
Transcript: ENSMUST00000177425

SMART Domains

Protein: ENSMUSP00000135663
Gene: ENSMUSG00000024164

Domain	Start	End	E-Value	Type
Pfam:A2M_N_2	1	55	1.6e-10	PFAM
PDB:3L5N\|B	74	102	1e-9	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes complement protein C3 which plays a central role in the classical, alternative and lectin activation pathways of the complement system. The encoded preproprotein undergoes a multi-step processing to generate various functional peptides. Mice deficient in the encoded protein fail to clear bacteria from the blood stream upon infection, display diminished airway hyperresponsiveness and lung eosinophilia upon allergen-induced pulmonary allergy, and develop severe lung injury after deposition of IgG immune complexes. Deficiency of the homolog of the encoded protein in humans was found to be associated with increased susceptibility to infections, age-related macular degeneration, and atypical hemolytic uremic syndrome. [provided by RefSeq, Mar 2015]
PHENOTYPE: Homozygous mutant mice exhibit abnormal immune responses, including increased mortality upon bacterial infection and decreased inflammatory response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	A	G	16: 17,113,546	V275A	possibly damaging	Het
Adamts2	A	G	11: 50,803,701	D1105G	probably benign	Het
Adgrb3	T	A	1: 25,112,271	M195L	possibly damaging	Het
Adrm1	A	G	2: 180,175,963		probably benign	Het
Atg13	T	A	2: 91,678,831	I457F	possibly damaging	Het
BC034090	T	C	1: 155,226,384	N45D	probably damaging	Het
Cacna1a	G	A	8: 84,523,028	G221D	probably damaging	Het
Calr	A	G	8: 84,846,706		probably null	Het
Chd3	C	T	11: 69,357,731	V825I	probably damaging	Het
Chdh	T	G	14: 30,035,804		probably benign	Het
Ckap5	T	C	2: 91,570,184	V627A	probably damaging	Het
Commd3	A	G	2: 18,672,478	E5G	probably benign	Het
Ddi1	T	C	9: 6,265,773	R199G	probably damaging	Het
Dennd4c	A	G	4: 86,805,487		probably benign	Het
Dok7	G	A	5: 35,079,568	G293D	possibly damaging	Het
Epm2aip1	T	C	9: 111,273,528	V523A	probably benign	Het
Fam171b	C	T	2: 83,879,447	Q488*	probably null	Het
Gabbr1	G	A	17: 37,048,607		probably null	Het
Gm5965	T	G	16: 88,778,331	S131A	possibly damaging	Het
Gpcpd1	T	C	2: 132,550,324	D235G	probably damaging	Het
Grip1	A	T	10: 119,931,302	K111*	probably null	Het
Itih4	G	T	14: 30,891,749	D308Y	probably damaging	Het
Kcnj6	A	G	16: 94,832,455	Y266H	probably damaging	Het
Lrrc41	T	C	4: 116,096,466	L783P	probably damaging	Het
Map4k5	T	C	12: 69,841,963	D298G	probably benign	Het
Mapkbp1	T	C	2: 120,018,942	F712L	probably damaging	Het
Mcoln2	T	C	3: 146,163,527		probably benign	Het
Megf11	T	A	9: 64,681,416	S532R	probably benign	Het
Mkx	T	C	18: 6,937,192	D284G	probably benign	Het
Mmp16	A	G	4: 18,116,185	I596M	probably damaging	Het
Msto1	C	A	3: 88,913,686	R34L	probably benign	Het
Mtmr9	A	G	14: 63,526,805	L491P	probably damaging	Het
Olfr1196	T	G	2: 88,700,966	Y121S	probably damaging	Het
Olfr12	T	C	1: 92,620,335	M143T	probably damaging	Het
Olfr917	T	A	9: 38,664,993	I284L	probably benign	Het
Otor	T	C	2: 143,078,612	V38A	possibly damaging	Het
Pcdhb12	G	T	18: 37,436,154	D118Y	probably damaging	Het
Prelp	T	C	1: 133,914,807	H200R	probably benign	Het
Prmt5	T	C	14: 54,509,877	Y481C	probably damaging	Het
Psg23	T	G	7: 18,614,540	D114A	probably damaging	Het
Ptger4	A	T	15: 5,242,758	Y127N	probably damaging	Het
Rabgap1l	C	A	1: 160,700,798	V385L	probably benign	Het
Rergl	T	A	6: 139,493,258	K191*	probably null	Het
Sart3	A	G	5: 113,759,250	F252S	probably damaging	Het
Sbno1	A	T	5: 124,381,706	S1169T	probably benign	Het
Serpinb8	C	T	1: 107,604,718	T180M	probably damaging	Het
Sipa1l1	G	A	12: 82,387,696	E747K	probably benign	Het
Sptb	T	A	12: 76,587,463	D2158V	probably benign	Het
Sycp2	T	G	2: 178,358,111	D1024A	probably benign	Het
Tbr1	T	G	2: 61,806,067	N262K	possibly damaging	Het
Tnrc6a	A	T	7: 123,171,494	I836F	probably benign	Het
Ttn	T	C	2: 76,938,747	E2823G	probably damaging	Het
Uqcrc1	T	A	9: 108,948,958	L441Q	possibly damaging	Het
Vmn1r180	T	C	7: 23,952,999	F196L	probably damaging	Het
Vmn2r111	T	C	17: 22,569,016	I451M	possibly damaging	Het
Zcchc7	A	T	4: 44,926,060	H353L	probably damaging	Het

Other mutations in C3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:C3	APN	17	57226004	missense	probably benign	0.01
IGL00741:C3	APN	17	57220206	intron	probably benign
IGL01093:C3	APN	17	57223949	missense	probably damaging	1.00
IGL01312:C3	APN	17	57225993	unclassified	probably benign
IGL01344:C3	APN	17	57224880	missense	probably benign
IGL01514:C3	APN	17	57215866	missense	probably benign	0.04
IGL01913:C3	APN	17	57213767	missense	probably null	0.01
IGL02165:C3	APN	17	57225092	missense	probably benign	0.17
IGL02176:C3	APN	17	57226337	unclassified	probably benign
IGL02189:C3	APN	17	57220113	missense	probably benign	0.01
IGL02378:C3	APN	17	57212698	missense	probably benign	0.19
IGL02422:C3	APN	17	57226823	missense	probably damaging	0.98
IGL02715:C3	APN	17	57204158	intron	probably benign
IGL02737:C3	APN	17	57204281	missense	probably benign	0.08
IGL03201:C3	APN	17	57222249	missense	probably damaging	1.00
IGL03210:C3	APN	17	57215846	nonsense	probably null
IGL03345:C3	APN	17	57219585	missense	probably damaging	1.00
PIT4431001:C3	UTSW	17	57206242	missense	probably benign	0.00
PIT4494001:C3	UTSW	17	57209263	missense	probably benign	0.01
R0158:C3	UTSW	17	57224851	critical splice donor site	probably null
R0318:C3	UTSW	17	57224709	missense	probably damaging	0.99
R1132:C3	UTSW	17	57207531	critical splice donor site	probably null
R1765:C3	UTSW	17	57224401	splice site	probably null
R1793:C3	UTSW	17	57219592	missense	possibly damaging	0.93
R1852:C3	UTSW	17	57222823	missense	probably damaging	0.98
R1908:C3	UTSW	17	57209489	missense	probably damaging	1.00
R1919:C3	UTSW	17	57220135	missense	probably damaging	1.00
R1935:C3	UTSW	17	57218829	missense	probably damaging	1.00
R2026:C3	UTSW	17	57218562	missense	probably damaging	1.00
R2108:C3	UTSW	17	57223974	splice site	probably null
R2197:C3	UTSW	17	57219623	missense	probably benign	0.32
R2394:C3	UTSW	17	57222303	nonsense	probably null
R2998:C3	UTSW	17	57210284	missense	probably benign	0.00
R3727:C3	UTSW	17	57207379	missense	possibly damaging	0.50
R3767:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R3768:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R3769:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R3770:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R3784:C3	UTSW	17	57226067	missense	probably damaging	0.99
R3883:C3	UTSW	17	57217173	critical splice acceptor site	probably null
R3884:C3	UTSW	17	57217173	critical splice acceptor site	probably null
R3950:C3	UTSW	17	57225286	missense	probably benign	0.02
R3966:C3	UTSW	17	57218664	missense	probably damaging	0.99
R4077:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R4078:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R4079:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R4168:C3	UTSW	17	57218608	missense	probably benign	0.00
R4208:C3	UTSW	17	57205303	missense	possibly damaging	0.96
R4695:C3	UTSW	17	57221057	missense	probably benign
R4909:C3	UTSW	17	57226830	critical splice donor site	probably null
R5011:C3	UTSW	17	57223236	missense	probably benign	0.06
R5094:C3	UTSW	17	57225033	critical splice donor site	probably null
R5141:C3	UTSW	17	57219570	missense	probably damaging	0.98
R5170:C3	UTSW	17	57223938	missense	probably damaging	0.96
R5339:C3	UTSW	17	57224308	missense	probably damaging	0.99
R5369:C3	UTSW	17	57221159	missense	probably benign	0.45
R5412:C3	UTSW	17	57220187	missense	probably benign	0.01
R5439:C3	UTSW	17	57204502	missense	probably benign	0.28
R5463:C3	UTSW	17	57211720	missense	probably benign	0.08
R5546:C3	UTSW	17	57222976	missense	probably damaging	0.99
R5572:C3	UTSW	17	57224673	missense	probably damaging	0.99
R5851:C3	UTSW	17	57211612	missense	probably null	0.14
R5863:C3	UTSW	17	57223141	missense	probably benign	0.06
R5888:C3	UTSW	17	57214831	missense	probably damaging	1.00
R5940:C3	UTSW	17	57210244	missense	possibly damaging	0.64
R6073:C3	UTSW	17	57206223	missense	probably null
R6091:C3	UTSW	17	57221967	nonsense	probably null
R6286:C3	UTSW	17	57224118	missense	probably damaging	1.00
R6524:C3	UTSW	17	57217264	critical splice donor site	probably null
R6868:C3	UTSW	17	57204029	missense	possibly damaging	0.55
R6896:C3	UTSW	17	57220864	splice site	probably null
R7007:C3	UTSW	17	57218809	missense	probably benign	0.00
R7022:C3	UTSW	17	57217286	missense	probably damaging	1.00
R7099:C3	UTSW	17	57206276	missense	probably benign	0.28
R7117:C3	UTSW	17	57212655	missense	probably benign	0.01
R7347:C3	UTSW	17	57223215	missense	probably benign	0.09
R7366:C3	UTSW	17	57221162	missense	probably benign	0.00
R7423:C3	UTSW	17	57214767	missense	probably damaging	1.00
R7425:C3	UTSW	17	57204039	missense	possibly damaging	0.81
R7481:C3	UTSW	17	57220136	missense	probably damaging	1.00
R7540:C3	UTSW	17	57206220	missense	probably benign	0.01
R7746:C3	UTSW	17	57218859	missense	probably damaging	1.00
R7771:C3	UTSW	17	57215797	missense	probably damaging	1.00
R7884:C3	UTSW	17	57226264	missense	probably benign	0.05
R8144:C3	UTSW	17	57226276	missense	probably damaging	0.98
R8279:C3	UTSW	17	57215809	missense	probably benign	0.28
R8284:C3	UTSW	17	57223938	missense	probably benign	0.39
R8328:C3	UTSW	17	57220973	missense	probably benign	0.00
R8353:C3	UTSW	17	57212643	missense	probably benign	0.00
R8396:C3	UTSW	17	57221029	missense	probably benign
R8429:C3	UTSW	17	57222811	missense	probably damaging	1.00
R8453:C3	UTSW	17	57212643	missense	probably benign	0.00
R8557:C3	UTSW	17	57224383	missense	probably benign	0.00
Z1177:C3	UTSW	17	57217144	missense	probably benign	0.07
Z1177:C3	UTSW	17	57226171	missense	probably damaging	0.99

Posted On

2013-10-07