Mutagenetix > Incidental Mutation

Incidental Mutation 'R6868:C3'

536055

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 #

R6868 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57511029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1659 (Y1659C)

Ref Sequence

ENSEMBL: ENSMUSP00000024988 (fasta)

Gene Model

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

AlphaFold

P01027

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024988
AA Change: Y1659C

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: Y1659C

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

unknown
Transcript: ENSMUST00000177425
AA Change: Y98C

SMART Domains

Protein: ENSMUSP00000135663
Gene: ENSMUSG00000024164
AA Change: Y98C

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	T	16: 14,436,559 (GRCm39)	N204I	probably damaging	Het
Aasdh	C	T	5: 77,039,527 (GRCm39)	V261M	probably damaging	Het
Adgrg7	A	G	16: 56,593,839 (GRCm39)	F126L	probably benign	Het
Agxt2	T	C	15: 10,373,855 (GRCm39)	L87P	probably damaging	Het
Alcam	G	A	16: 52,088,748 (GRCm39)	S554F	probably damaging	Het
Ambra1	T	C	2: 91,747,878 (GRCm39)	S1205P	possibly damaging	Het
Bst2	A	C	8: 71,987,404 (GRCm39)	V150G	unknown	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cdk4	T	C	10: 126,900,870 (GRCm39)	V174A	probably benign	Het
Ces2h	T	A	8: 105,745,055 (GRCm39)	N396K	probably benign	Het
Cfap144	C	T	11: 58,683,732 (GRCm39)	D113N	probably damaging	Het
Chd7	T	C	4: 8,811,501 (GRCm39)		probably null	Het
Cnih4	A	G	1: 180,993,762 (GRCm39)	I76V	probably null	Het
Csmd2	G	A	4: 128,336,633 (GRCm39)	V1404I	probably benign	Het
Ctrb1	T	C	8: 112,416,035 (GRCm39)	D53G	probably benign	Het
Cul9	C	A	17: 46,833,109 (GRCm39)	R1323L	possibly damaging	Het
Dchs1	A	G	7: 105,412,710 (GRCm39)	V1230A	possibly damaging	Het
Dgat2	T	C	7: 98,807,513 (GRCm39)	D219G	probably benign	Het
Dgkh	T	C	14: 78,862,293 (GRCm39)	T225A	probably damaging	Het
Dock9	G	T	14: 121,823,676 (GRCm39)	A1412E	probably benign	Het
Dscam	C	T	16: 96,631,140 (GRCm39)	V292M	probably damaging	Het
Fras1	T	A	5: 96,830,237 (GRCm39)	V1509E	probably benign	Het
Fryl	T	C	5: 73,226,146 (GRCm39)	Q1839R	probably damaging	Het
Gcat	A	G	15: 78,919,566 (GRCm39)	D177G	probably damaging	Het
Gss	T	C	2: 155,409,732 (GRCm39)	T235A	possibly damaging	Het
Ints10	T	A	8: 69,250,450 (GRCm39)	M114K	probably damaging	Het
Ints5	T	G	19: 8,874,750 (GRCm39)	L903R	probably damaging	Het
Lipo2	G	T	19: 33,725,862 (GRCm39)	P130Q	possibly damaging	Het
Megf11	G	A	9: 64,587,591 (GRCm39)	C494Y	probably damaging	Het
Milr1	T	C	11: 106,654,747 (GRCm39)	Y162H	probably damaging	Het
Mrc2	T	A	11: 105,219,244 (GRCm39)	I278N	probably damaging	Het
Mst1r	T	A	9: 107,793,132 (GRCm39)		probably null	Het
Myh15	G	A	16: 48,889,766 (GRCm39)	C119Y	probably damaging	Het
Nap1l1	G	A	10: 111,330,669 (GRCm39)	G358D	probably damaging	Het
Nav3	T	C	10: 109,529,027 (GRCm39)	I2178V	possibly damaging	Het
Nkx2-5	T	C	17: 27,060,268 (GRCm39)	E21G	probably damaging	Het
Nos2	C	T	11: 78,848,332 (GRCm39)	R967C	probably benign	Het
Or6c215	T	C	10: 129,638,037 (GRCm39)	D119G	probably damaging	Het
Parp10	T	C	15: 76,127,306 (GRCm39)	R44G	probably damaging	Het
Pced1b	A	G	15: 97,282,222 (GRCm39)	H87R	probably damaging	Het
Ppfia3	T	A	7: 45,003,036 (GRCm39)	L524F	probably damaging	Het
Ppp1r12b	T	C	1: 134,814,176 (GRCm39)	T376A	probably benign	Het
Ppp4r4	T	C	12: 103,557,111 (GRCm39)	L449P	probably damaging	Het
Prkd1	T	C	12: 50,472,320 (GRCm39)	R198G	probably damaging	Het
Pth2r	C	A	1: 65,427,638 (GRCm39)	A437E	probably benign	Het
Ptprh	A	T	7: 4,604,864 (GRCm39)	I60N	probably benign	Het
Pxmp2	C	T	5: 110,433,846 (GRCm39)	R9Q	probably damaging	Het
Scarb2	T	C	5: 92,633,168 (GRCm39)	K55E	probably benign	Het
Slc18b1	T	C	10: 23,680,132 (GRCm39)	V109A	possibly damaging	Het
Slx4ip	T	A	2: 136,842,130 (GRCm39)	D18E	probably damaging	Het
Stk40	A	G	4: 126,017,607 (GRCm39)	R45G	probably damaging	Het
Tbxas1	A	T	6: 39,061,240 (GRCm39)	Q513L	probably damaging	Het
Tcf4	A	T	18: 69,790,721 (GRCm39)		probably null	Het
Tmc6	T	A	11: 117,665,143 (GRCm39)	I377F	probably benign	Het
Tmem131l	T	C	3: 83,868,938 (GRCm39)	I146V	probably damaging	Het
Trac	T	A	14: 54,458,049 (GRCm39)		probably benign	Het
Trpm7	T	C	2: 126,679,334 (GRCm39)	D409G	probably damaging	Het
Usp39	A	T	6: 72,314,734 (GRCm39)	V224E	possibly damaging	Het
Vmn1r184	A	C	7: 25,966,727 (GRCm39)	M158L	probably benign	Het
Vmn2r120	T	A	17: 57,852,218 (GRCm39)	I33L	probably benign	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
R2026:C3	UTSW	17	57,525,562 (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
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'- AAATACAAAGTGTCTGCTGTGG -3'
(R):5'- CCCAGGAACCTGCTCTTAAC -3'

Sequencing Primer
(F):5'- CCATACTCATGAGGCAAAGGCG -3'
(R):5'- GGAACCTGCTCTTAACTGCAAG -3'

Posted On

2018-10-18