Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:C3'

555280

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

complement factor 3, acylation stimulating protein, Plp

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4431001 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

57203970-57228136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57206242 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 1468 (N1468K)

Ref Sequence

ENSEMBL: ENSMUSP00000024988 (fasta)

Gene Model

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

AlphaFold

P01027

Predicted Effect

probably benign
Transcript: ENSMUST00000024988
AA Change: N1468K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: N1468K

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: 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

1x: 93.2%
3x: 90.7%
10x: 84.7%
20x: 71.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	A	G	5: 146,502,512	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,363,924	C357F	probably damaging	Het
Actr1a	A	T	19: 46,382,292		probably null	Het
Adcy1	C	G	11: 7,064,089	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,561,611	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,031,795	T1235A	possibly damaging	Het
Atp8a2	T	C	14: 59,654,626	D1091G	probably benign	Het
Bmp6	T	C	13: 38,485,930	S397P	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,579,707		probably benign	Het
Ccr1	T	C	9: 123,964,194	I100V	probably benign	Het
Cep162	T	A	9: 87,244,345	R171S	probably benign	Het
Chd8	T	C	14: 52,218,249	H994R	probably damaging	Het
Cntn3	T	A	6: 102,464,566	K6N	probably benign	Het
Cope	A	G	8: 70,312,767	E289G	probably damaging	Het
Cpne8	T	G	15: 90,551,975	E279A	probably damaging	Het
Cyp11a1	A	T	9: 58,016,272		probably null	Het
Dcp2	A	G	18: 44,412,571	K333R	probably benign	Het
Dpp6	G	T	5: 27,631,498	V329F	probably benign	Het
Drc1	T	A	5: 30,347,073	D186E	probably damaging	Het
Dsc2	G	A	18: 20,046,277	Q245*	probably null	Het
Eef1e1	T	C	13: 38,658,962	E11G	probably damaging	Het
Emilin2	G	A	17: 71,255,995	P915S	probably benign	Het
Fam214b	C	A	4: 43,036,024	G236C	probably damaging	Het
Fpgt	A	G	3: 155,086,785	M535T	possibly damaging	Het
Fxyd3	G	A	7: 31,071,355	L37F	probably damaging	Het
Gal3st2c	T	A	1: 94,008,112	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,766,475	I2T	probably benign	Het
Gm9611	T	C	14: 42,293,931	M169V		Het
Ints3	G	A	3: 90,396,460	T720I	probably damaging	Het
Itpr2	T	G	6: 146,354,720	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,676,307	H256Q	probably benign	Het
Lama2	T	C	10: 27,101,430	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,434,131	G442D	probably damaging	Het
Lrp1b	C	T	2: 41,004,755	V2268M		Het
Macc1	T	C	12: 119,446,511	L338P	probably benign	Het
Mtmr2	T	C	9: 13,793,179	F201L	probably benign	Het
Mtr	C	T	13: 12,212,443	V772M	probably damaging	Het
Mtus2	A	G	5: 148,076,705	T103A	probably benign	Het
Myo5c	A	G	9: 75,252,571	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,798,693	F13I	probably benign	Het
Olfr1248	T	C	2: 89,617,857	I112V	probably benign	Het
Paqr6	A	T	3: 88,365,777	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,501,897	V271G	probably damaging	Het
Pde7b	T	C	10: 20,400,545	H405R	possibly damaging	Het
Plxnb1	A	G	9: 109,100,718	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,151,241	F101L	probably benign	Het
Pold1	A	G	7: 44,538,894	L520P	probably damaging	Het
Pramel1	A	G	4: 143,398,390	T295A	possibly damaging	Het
Psg20	A	T	7: 18,674,550	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,340,019	R71*	probably null	Het
Ptgs1	A	T	2: 36,240,680	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,495,221	D333G	probably damaging	Het
Rfx7	T	A	9: 72,617,971	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,397,397		probably benign	Het
Serpina3i	A	T	12: 104,265,173	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,396,516	V860E	probably benign	Het
Slc12a1	T	A	2: 125,190,204	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 103,050,268	F120S	probably damaging	Het
Smyd4	T	C	11: 75,403,513	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,923,476	Y242C	probably damaging	Het
Sqle	A	G	15: 59,323,660	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,845,074	S246P	probably benign	Het
Tenm3	G	A	8: 48,235,607	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 128,249,181	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,059,978	N279K	probably benign	Het
Tmed5	T	A	5: 108,130,021	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,182,024	L443P	probably damaging	Het
Ttc38	C	A	15: 85,836,127	Q97K	probably benign	Het
Unc13c	C	A	9: 73,749,547	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,676,696	T102A	possibly damaging	Het
Vwce	G	A	19: 10,664,582	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,934,345	S394T	possibly damaging	Het
Zan	C	T	5: 137,392,064	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,259,192	F1122L	probably benign	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
IGL01309:C3	APN	17	57209652	intron	probably benign
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
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
R8738:C3	UTSW	17	57204015	makesense	probably null
R8794:C3	UTSW	17	57221011	missense	probably benign
R9130:C3	UTSW	17	57211678	missense	probably damaging	1.00
R9296:C3	UTSW	17	57204291	missense	probably benign
R9432:C3	UTSW	17	57223950	missense	probably damaging	1.00
R9451:C3	UTSW	17	57224169	missense	probably benign	0.03
R9542:C3	UTSW	17	57225037	missense	probably damaging	1.00
R9615:C3	UTSW	17	57211669	missense	probably damaging	1.00
R9624:C3	UTSW	17	57220189	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

Predicted Primers

PCR Primer
(F):5'- TCAGCGTATGGATGCCTCAG -3'
(R):5'- GGAAACAGTCTGGCTCCAAG -3'

Sequencing Primer
(F):5'- CTCAGGATCCTCTGGTGCTATTAAAG -3'
(R):5'- GGAAGATAGATTTAACGACTGCTC -3'

Posted On

2019-06-07