Mutagenetix > Incidental Mutations

Incidental Mutation 'R1919:C3'

212897

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

complement factor 3, acylation stimulating protein, Plp

MMRRC Submission

039937-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57203970-57228136 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 57220135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Cysteine at position 771 (W771C)

Ref Sequence

ENSEMBL: ENSMUSP00000024988 (fasta)

Gene Model

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

AlphaFold

P01027

Predicted Effect

probably damaging
Transcript: ENSMUST00000024988
AA Change: W771C

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

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: W771C

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

noncoding transcript
Transcript: ENSMUST00000176457

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184453

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gm3604	G	T	13: 62,369,942	H201N	probably benign	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	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
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
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
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
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'- CCCTCAGGCAAGGATGTAGAATG -3'
(R):5'- TGTCTGGAGCTGGTAGAAAAC -3'

Sequencing Primer
(F):5'- AGTGTCCCGGCCTCATC -3'
(R):5'- CACCTGCAGACTTTTCCA -3'

Posted On

2014-07-14