Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4431001:C3'

555280

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 #

PIT4431001 (G1)

Quality Score

158.009

Status

Not validated

Chromosome

Chromosomal Location

57510970-57535136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57513242 bp (GRCm39)

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: 146,439,322 (GRCm39)	I29V	probably benign	Het
5730455P16Rik	C	A	11: 80,254,750 (GRCm39)	C357F	probably damaging	Het
Actr1a	A	T	19: 46,370,731 (GRCm39)		probably null	Het
Adcy1	C	G	11: 7,014,089 (GRCm39)	Q164E	possibly damaging	Het
Arhgap35	A	T	7: 16,295,536 (GRCm39)	S1176R	possibly damaging	Het
Atad2b	A	G	12: 5,081,795 (GRCm39)	T1235A	possibly damaging	Het
Atosb	C	A	4: 43,036,024 (GRCm39)	G236C	probably damaging	Het
Atp8a2	T	C	14: 59,892,075 (GRCm39)	D1091G	probably benign	Het
Bmp6	T	C	13: 38,669,906 (GRCm39)	S397P	probably benign	Het
Ccnjl	CGCG	CGCGGCG	11: 43,470,534 (GRCm39)		probably benign	Het
Ccr1	T	C	9: 123,764,231 (GRCm39)	I100V	probably benign	Het
Cep162	T	A	9: 87,126,398 (GRCm39)	R171S	probably benign	Het
Chd8	T	C	14: 52,455,706 (GRCm39)	H994R	probably damaging	Het
Cntn3	T	A	6: 102,441,527 (GRCm39)	K6N	probably benign	Het
Cope	A	G	8: 70,765,417 (GRCm39)	E289G	probably damaging	Het
Cpne8	T	G	15: 90,436,178 (GRCm39)	E279A	probably damaging	Het
Cyp11a1	A	T	9: 57,923,555 (GRCm39)		probably null	Het
Dcp2	A	G	18: 44,545,638 (GRCm39)	K333R	probably benign	Het
Dpp6	G	T	5: 27,836,496 (GRCm39)	V329F	probably benign	Het
Drc1	T	A	5: 30,504,417 (GRCm39)	D186E	probably damaging	Het
Dsc2	G	A	18: 20,179,334 (GRCm39)	Q245*	probably null	Het
Eef1e1	T	C	13: 38,842,938 (GRCm39)	E11G	probably damaging	Het
Emilin2	G	A	17: 71,562,990 (GRCm39)	P915S	probably benign	Het
Fpgt	A	G	3: 154,792,422 (GRCm39)	M535T	possibly damaging	Het
Fxyd3	G	A	7: 30,770,780 (GRCm39)	L37F	probably damaging	Het
Gal3st2c	T	A	1: 93,935,834 (GRCm39)	I62N	probably damaging	Het
Gdpd3	T	C	7: 126,365,647 (GRCm39)	I2T	probably benign	Het
Gm9611	T	C	14: 42,115,888 (GRCm39)	M169V		Het
Ints3	G	A	3: 90,303,767 (GRCm39)	T720I	probably damaging	Het
Itpr2	T	G	6: 146,256,218 (GRCm39)	M992L	probably benign	Het
L3mbtl2	T	A	15: 81,560,508 (GRCm39)	H256Q	probably benign	Het
Lama2	T	C	10: 26,977,426 (GRCm39)	T1918A	probably damaging	Het
Lpcat2b	G	A	5: 107,581,997 (GRCm39)	G442D	probably damaging	Het
Lrp1b	C	T	2: 40,894,767 (GRCm39)	V2268M		Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Mtr	C	T	13: 12,227,329 (GRCm39)	V772M	probably damaging	Het
Mtus2	A	G	5: 148,013,515 (GRCm39)	T103A	probably benign	Het
Myo5c	A	G	9: 75,159,853 (GRCm39)	I294V	possibly damaging	Het
Ncam1	A	T	9: 49,709,993 (GRCm39)	F13I	probably benign	Het
Or4a75	T	C	2: 89,448,201 (GRCm39)	I112V	probably benign	Het
Paqr6	A	T	3: 88,273,084 (GRCm39)	I52F	possibly damaging	Het
Pde2a	T	G	7: 101,151,104 (GRCm39)	V271G	probably damaging	Het
Pde7b	T	C	10: 20,276,291 (GRCm39)	H405R	possibly damaging	Het
Plxnb1	A	G	9: 108,929,786 (GRCm39)	Y214C	probably damaging	Het
Pmp22	T	C	11: 63,042,067 (GRCm39)	F101L	probably benign	Het
Pold1	A	G	7: 44,188,318 (GRCm39)	L520P	probably damaging	Het
Pramel1	A	G	4: 143,124,960 (GRCm39)	T295A	possibly damaging	Het
Psg20	A	T	7: 18,408,475 (GRCm39)	I415N	probably damaging	Het
Ptcd2	T	A	13: 99,476,527 (GRCm39)	R71*	probably null	Het
Ptgs1	A	T	2: 36,130,692 (GRCm39)	N197I	probably damaging	Het
Rbfox3	T	C	11: 118,386,047 (GRCm39)	D333G	probably damaging	Het
Rfx7	T	A	9: 72,525,253 (GRCm39)	H814Q	probably benign	Het
Rptn	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	TGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCAGGGTCAGAAAGGCAGACAAGACCTGAGTTCTCACCAGGGTCAGAAAGGCAGACAAGACCAGAGTCCTCACCTGGGTCAGAAAGGCAGGCATGACCAGAGTCCTCACCGGGGTCAGAAAGGCAGGCAAGACCAGAGTCCTCACCAGGGTCAGAAAGGCAG	3: 93,304,704 (GRCm39)		probably benign	Het
Serpina3i	A	T	12: 104,231,432 (GRCm39)	H23L	probably benign	Het
Sipa1l1	T	A	12: 82,443,290 (GRCm39)	V860E	probably benign	Het
Slc12a1	T	A	2: 125,032,124 (GRCm39)	Y592N	possibly damaging	Het
Slco2a1	T	C	9: 102,927,467 (GRCm39)	F120S	probably damaging	Het
Smyd4	T	C	11: 75,294,339 (GRCm39)	F740S	probably damaging	Het
Sppl2a	T	C	2: 126,765,396 (GRCm39)	Y242C	probably damaging	Het
Sqle	A	G	15: 59,195,509 (GRCm39)	K288R	probably benign	Het
Tbc1d17	A	G	7: 44,494,498 (GRCm39)	S246P	probably benign	Het
Tenm3	G	A	8: 48,688,642 (GRCm39)	T2315M	probably damaging	Het
Tgfb1i1	C	T	7: 127,848,353 (GRCm39)	R191C	probably damaging	Het
Thumpd3	T	A	6: 113,036,939 (GRCm39)	N279K	probably benign	Het
Tmed5	T	A	5: 108,277,887 (GRCm39)	H95L	possibly damaging	Het
Tmem161a	T	C	8: 70,634,674 (GRCm39)	L443P	probably damaging	Het
Ttc38	C	A	15: 85,720,328 (GRCm39)	Q97K	probably benign	Het
Unc13c	C	A	9: 73,656,829 (GRCm39)	C1124F	probably damaging	Het
Vmn2r102	A	G	17: 19,896,958 (GRCm39)	T102A	possibly damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Xkr5	A	T	8: 18,984,361 (GRCm39)	S394T	possibly damaging	Het
Zan	C	T	5: 137,390,326 (GRCm39)	C4747Y	unknown	Het
Zfp804a	T	C	2: 82,089,536 (GRCm39)	F1122L	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
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
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'- TCAGCGTATGGATGCCTCAG -3'
(R):5'- GGAAACAGTCTGGCTCCAAG -3'

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

Posted On

2019-06-07