Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:C3'

220715

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57525562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 898 (Y898C)

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: Y898C

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

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: Y898C

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Snrnp48	G	T	13: 38,393,862 (GRCm39)	A56S	possibly damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly damaging	Het

Other mutations in C3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:C3	APN	17	57,533,004 (GRCm39)	missense	probably benign	0.01
IGL00741:C3	APN	17	57,527,206 (GRCm39)	intron	probably benign
IGL01093:C3	APN	17	57,530,949 (GRCm39)	missense	probably damaging	1.00
IGL01309:C3	APN	17	57,516,652 (GRCm39)	intron	probably benign
IGL01312:C3	APN	17	57,532,993 (GRCm39)	unclassified	probably benign
IGL01344:C3	APN	17	57,531,880 (GRCm39)	missense	probably benign
IGL01514:C3	APN	17	57,522,866 (GRCm39)	missense	probably benign	0.04
IGL01913:C3	APN	17	57,520,767 (GRCm39)	missense	probably null	0.01
IGL02165:C3	APN	17	57,532,092 (GRCm39)	missense	probably benign	0.17
IGL02176:C3	APN	17	57,533,337 (GRCm39)	unclassified	probably benign
IGL02189:C3	APN	17	57,527,113 (GRCm39)	missense	probably benign	0.01
IGL02378:C3	APN	17	57,519,698 (GRCm39)	missense	probably benign	0.19
IGL02422:C3	APN	17	57,533,823 (GRCm39)	missense	probably damaging	0.98
IGL02715:C3	APN	17	57,511,158 (GRCm39)	intron	probably benign
IGL02737:C3	APN	17	57,511,281 (GRCm39)	missense	probably benign	0.08
IGL03201:C3	APN	17	57,529,249 (GRCm39)	missense	probably damaging	1.00
IGL03210:C3	APN	17	57,522,846 (GRCm39)	nonsense	probably null
IGL03345:C3	APN	17	57,526,585 (GRCm39)	missense	probably damaging	1.00
PIT4431001:C3	UTSW	17	57,513,242 (GRCm39)	missense	probably benign	0.00
PIT4494001:C3	UTSW	17	57,516,263 (GRCm39)	missense	probably benign	0.01
R0158:C3	UTSW	17	57,531,851 (GRCm39)	critical splice donor site	probably null
R0318:C3	UTSW	17	57,531,709 (GRCm39)	missense	probably damaging	0.99
R1132:C3	UTSW	17	57,514,531 (GRCm39)	critical splice donor site	probably null
R1765:C3	UTSW	17	57,531,401 (GRCm39)	splice site	probably null
R1793:C3	UTSW	17	57,526,592 (GRCm39)	missense	possibly damaging	0.93
R1852:C3	UTSW	17	57,529,823 (GRCm39)	missense	probably damaging	0.98
R1908:C3	UTSW	17	57,516,489 (GRCm39)	missense	probably damaging	1.00
R1919:C3	UTSW	17	57,527,135 (GRCm39)	missense	probably damaging	1.00
R1935:C3	UTSW	17	57,525,829 (GRCm39)	missense	probably damaging	1.00
R2108:C3	UTSW	17	57,530,974 (GRCm39)	splice site	probably null
R2197:C3	UTSW	17	57,526,623 (GRCm39)	missense	probably benign	0.32
R2394:C3	UTSW	17	57,529,303 (GRCm39)	nonsense	probably null
R2998:C3	UTSW	17	57,517,284 (GRCm39)	missense	probably benign	0.00
R3727:C3	UTSW	17	57,514,379 (GRCm39)	missense	possibly damaging	0.50
R3767:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3768:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3769:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3770:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R3784:C3	UTSW	17	57,533,067 (GRCm39)	missense	probably damaging	0.99
R3883:C3	UTSW	17	57,524,173 (GRCm39)	critical splice acceptor site	probably null
R3884:C3	UTSW	17	57,524,173 (GRCm39)	critical splice acceptor site	probably null
R3950:C3	UTSW	17	57,532,286 (GRCm39)	missense	probably benign	0.02
R3966:C3	UTSW	17	57,525,664 (GRCm39)	missense	probably damaging	0.99
R4077:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4078:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4079:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4168:C3	UTSW	17	57,525,608 (GRCm39)	missense	probably benign	0.00
R4208:C3	UTSW	17	57,512,303 (GRCm39)	missense	possibly damaging	0.96
R4695:C3	UTSW	17	57,528,057 (GRCm39)	missense	probably benign
R4909:C3	UTSW	17	57,533,830 (GRCm39)	critical splice donor site	probably null
R5011:C3	UTSW	17	57,530,236 (GRCm39)	missense	probably benign	0.06
R5094:C3	UTSW	17	57,532,033 (GRCm39)	critical splice donor site	probably null
R5141:C3	UTSW	17	57,526,570 (GRCm39)	missense	probably damaging	0.98
R5170:C3	UTSW	17	57,530,938 (GRCm39)	missense	probably damaging	0.96
R5339:C3	UTSW	17	57,531,308 (GRCm39)	missense	probably damaging	0.99
R5369:C3	UTSW	17	57,528,159 (GRCm39)	missense	probably benign	0.45
R5412:C3	UTSW	17	57,527,187 (GRCm39)	missense	probably benign	0.01
R5439:C3	UTSW	17	57,511,502 (GRCm39)	missense	probably benign	0.28
R5463:C3	UTSW	17	57,518,720 (GRCm39)	missense	probably benign	0.08
R5546:C3	UTSW	17	57,529,976 (GRCm39)	missense	probably damaging	0.99
R5572:C3	UTSW	17	57,531,673 (GRCm39)	missense	probably damaging	0.99
R5851:C3	UTSW	17	57,518,612 (GRCm39)	missense	probably null	0.14
R5863:C3	UTSW	17	57,530,141 (GRCm39)	missense	probably benign	0.06
R5888:C3	UTSW	17	57,521,831 (GRCm39)	missense	probably damaging	1.00
R5940:C3	UTSW	17	57,517,244 (GRCm39)	missense	possibly damaging	0.64
R6073:C3	UTSW	17	57,513,223 (GRCm39)	missense	probably null
R6091:C3	UTSW	17	57,528,967 (GRCm39)	nonsense	probably null
R6286:C3	UTSW	17	57,531,118 (GRCm39)	missense	probably damaging	1.00
R6524:C3	UTSW	17	57,524,264 (GRCm39)	critical splice donor site	probably null
R6868:C3	UTSW	17	57,511,029 (GRCm39)	missense	possibly damaging	0.55
R6896:C3	UTSW	17	57,527,864 (GRCm39)	splice site	probably null
R7007:C3	UTSW	17	57,525,809 (GRCm39)	missense	probably benign	0.00
R7022:C3	UTSW	17	57,524,286 (GRCm39)	missense	probably damaging	1.00
R7099:C3	UTSW	17	57,513,276 (GRCm39)	missense	probably benign	0.28
R7117:C3	UTSW	17	57,519,655 (GRCm39)	missense	probably benign	0.01
R7347:C3	UTSW	17	57,530,215 (GRCm39)	missense	probably benign	0.09
R7366:C3	UTSW	17	57,528,162 (GRCm39)	missense	probably benign	0.00
R7423:C3	UTSW	17	57,521,767 (GRCm39)	missense	probably damaging	1.00
R7425:C3	UTSW	17	57,511,039 (GRCm39)	missense	possibly damaging	0.81
R7481:C3	UTSW	17	57,527,136 (GRCm39)	missense	probably damaging	1.00
R7540:C3	UTSW	17	57,513,220 (GRCm39)	missense	probably benign	0.01
R7746:C3	UTSW	17	57,525,859 (GRCm39)	missense	probably damaging	1.00
R7771:C3	UTSW	17	57,522,797 (GRCm39)	missense	probably damaging	1.00
R7884:C3	UTSW	17	57,533,264 (GRCm39)	missense	probably benign	0.05
R8144:C3	UTSW	17	57,533,276 (GRCm39)	missense	probably damaging	0.98
R8279:C3	UTSW	17	57,522,809 (GRCm39)	missense	probably benign	0.28
R8284:C3	UTSW	17	57,530,938 (GRCm39)	missense	probably benign	0.39
R8328:C3	UTSW	17	57,527,973 (GRCm39)	missense	probably benign	0.00
R8353:C3	UTSW	17	57,519,643 (GRCm39)	missense	probably benign	0.00
R8396:C3	UTSW	17	57,528,029 (GRCm39)	missense	probably benign
R8429:C3	UTSW	17	57,529,811 (GRCm39)	missense	probably damaging	1.00
R8453:C3	UTSW	17	57,519,643 (GRCm39)	missense	probably benign	0.00
R8557:C3	UTSW	17	57,531,383 (GRCm39)	missense	probably benign	0.00
R8738:C3	UTSW	17	57,511,015 (GRCm39)	makesense	probably null
R8794:C3	UTSW	17	57,528,011 (GRCm39)	missense	probably benign
R9130:C3	UTSW	17	57,518,678 (GRCm39)	missense	probably damaging	1.00
R9296:C3	UTSW	17	57,511,291 (GRCm39)	missense	probably benign
R9432:C3	UTSW	17	57,530,950 (GRCm39)	missense	probably damaging	1.00
R9451:C3	UTSW	17	57,531,169 (GRCm39)	missense	probably benign	0.03
R9542:C3	UTSW	17	57,532,037 (GRCm39)	missense	probably damaging	1.00
R9615:C3	UTSW	17	57,518,669 (GRCm39)	missense	probably damaging	1.00
R9624:C3	UTSW	17	57,527,189 (GRCm39)	missense	probably benign	0.00
Z1177:C3	UTSW	17	57,533,171 (GRCm39)	missense	probably damaging	0.99
Z1177:C3	UTSW	17	57,524,144 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATCCTTGCTGTCTCAGAGCC -3'
(R):5'- TAGTTGAAAGGGCCACCAGG -3'

Sequencing Primer
(F):5'- TGTCTCAGAGCCCAGGTCAAC -3'
(R):5'- TGAACCCACCCTCACGTGTC -3'

Posted On

2014-08-25