Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:C3'

724538

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000024164

Gene Name

complement component 3

Synonyms

Plp, acylation stimulating protein, complement factor 3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9615 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57518669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1238 (L1238Q)

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: L1238Q

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

SMART Domains

Protein: ENSMUSP00000024988
Gene: ENSMUSG00000024164
AA Change: L1238Q

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Acat3	G	A	17: 13,147,502 (GRCm39)	Q172*	probably null	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Commd9	T	C	2: 101,727,436 (GRCm39)	S77P	possibly damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Rtl1	G	A	12: 109,556,835 (GRCm39)	A1668V	possibly damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Samd4b	A	T	7: 28,106,714 (GRCm39)	I349K	probably damaging	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Slc35f4	A	G	14: 49,556,306 (GRCm39)	V149A	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	probably 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
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
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
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'- CTACTGGAACAAGGCATGTGCTC -3'
(R):5'- AACTGAGCACCTGGACATTG -3'

Sequencing Primer
(F):5'- GAACAAGGCATGTGCTCTAGTTTCTC -3'
(R):5'- GCACCTGGACATTGAACATAATAAG -3'

Posted On

2022-09-12