Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02451:Il1a'

293650

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Il1a

Ensembl Gene

ENSMUSG00000027399

Gene Name

interleukin 1 alpha

Synonyms

Il-1a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

129141530-129151892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129148575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 45 (E45G)

Ref Sequence

ENSEMBL: ENSMUSP00000028882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028882]

AlphaFold

P01582

Predicted Effect

probably damaging
Transcript: ENSMUST00000028882
AA Change: E45G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028882
Gene: ENSMUSG00000027399
AA Change: E45G

Domain	Start	End	E-Value	Type
Pfam:IL1_propep	1	111	2.2e-38	PFAM
IL1	131	270	8.14e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144178

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal tumor vascularization, decreased metastatic potential, and decreased interleukin-1 beta secretion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,561,809 (GRCm39)	T126P	probably damaging	Het
Asic2	T	C	11: 80,782,563 (GRCm39)		probably benign	Het
B430305J03Rik	A	G	3: 61,271,562 (GRCm39)		probably benign	Het
Bbs7	A	G	3: 36,664,741 (GRCm39)	F47L	possibly damaging	Het
Bcl2l14	G	T	6: 134,400,804 (GRCm39)	G75V	probably benign	Het
Btnl4	T	C	17: 34,694,901 (GRCm39)	H4R	probably benign	Het
Champ1	C	A	8: 13,928,739 (GRCm39)	P299Q	probably damaging	Het
Cimap3	T	A	3: 105,921,820 (GRCm39)	E34D	probably benign	Het
Cldnd2	A	G	7: 43,091,082 (GRCm39)	K5E	probably benign	Het
Ctr9	T	A	7: 110,642,631 (GRCm39)	L401*	probably null	Het
Cyp2c29	G	A	19: 39,279,291 (GRCm39)	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,412,315 (GRCm39)	L298H	probably damaging	Het
Git1	T	C	11: 77,391,513 (GRCm39)	C222R	possibly damaging	Het
Gpam	T	C	19: 55,076,635 (GRCm39)	T189A	probably damaging	Het
Hgfac	T	G	5: 35,201,158 (GRCm39)		probably null	Het
Hivep3	T	A	4: 119,991,162 (GRCm39)	S2221T	probably damaging	Het
Ifi47	T	C	11: 48,986,604 (GRCm39)	Y124H	probably damaging	Het
Itga11	T	A	9: 62,642,635 (GRCm39)	I186N	probably damaging	Het
Krt16	A	T	11: 100,137,162 (GRCm39)		probably benign	Het
Mapk13	A	G	17: 28,995,387 (GRCm39)	T203A	probably damaging	Het
Mrpl37	T	A	4: 106,923,839 (GRCm39)	I52F	probably damaging	Het
Mtrex	C	T	13: 113,027,881 (GRCm39)	V660M	probably damaging	Het
Nr1i2	A	G	16: 38,069,654 (GRCm39)	F417L	probably benign	Het
Or10ag59	T	A	2: 87,405,576 (GRCm39)	S49R	probably benign	Het
Or6c215	G	A	10: 129,637,702 (GRCm39)	Q231*	probably null	Het
Osbpl1a	T	C	18: 13,047,550 (GRCm39)		probably benign	Het
Parg	C	T	14: 31,964,186 (GRCm39)	T112M	probably damaging	Het
Pou6f1	T	C	15: 100,477,821 (GRCm39)	T166A	possibly damaging	Het
Prtg	A	G	9: 72,764,281 (GRCm39)	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,504,086 (GRCm39)		probably benign	Het
Rab6a	T	C	7: 100,285,970 (GRCm39)		probably null	Het
Rnf207	C	T	4: 152,396,869 (GRCm39)	R425H	probably benign	Het
Rusf1	A	G	7: 127,875,582 (GRCm39)	L257P	probably damaging	Het
Slc27a2	A	G	2: 126,420,912 (GRCm39)	M468V	probably benign	Het
Slc30a1	A	G	1: 191,639,441 (GRCm39)	H108R	possibly damaging	Het
Sned1	A	G	1: 93,163,930 (GRCm39)		probably benign	Het
Sptbn4	A	T	7: 27,065,014 (GRCm39)	F2095Y	probably null	Het
Sspo	A	T	6: 48,437,237 (GRCm39)		probably benign	Het
Tbx19	A	G	1: 164,967,740 (GRCm39)	S336P	probably benign	Het
Tmem101	T	A	11: 102,044,119 (GRCm39)	D256V	probably damaging	Het
Trbv20	T	G	6: 41,165,210 (GRCm39)	L2V	unknown	Het
Trpc7	A	G	13: 56,970,274 (GRCm39)	S382P	probably damaging	Het
Tut4	C	A	4: 108,386,473 (GRCm39)	Y1114*	probably null	Het
Uhmk1	T	C	1: 170,040,095 (GRCm39)	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 109,143,788 (GRCm39)	R721*	probably null	Het
Vmn2r94	T	A	17: 18,478,453 (GRCm39)	Y98F	possibly damaging	Het
Zfp532	A	G	18: 65,756,672 (GRCm39)	R202G	probably damaging	Het
Zfp827	T	C	8: 79,787,601 (GRCm39)	S256P	probably damaging	Het
Zzef1	T	C	11: 72,792,214 (GRCm39)	I2266T	probably damaging	Het

Other mutations in Il1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Il1a	APN	2	129,146,637 (GRCm39)	missense	probably benign
IGL01726:Il1a	APN	2	129,146,640 (GRCm39)	missense	possibly damaging	0.47
IGL02537:Il1a	APN	2	129,150,996 (GRCm39)	missense	probably damaging	0.98
R0009:Il1a	UTSW	2	129,150,994 (GRCm39)	missense	probably damaging	0.99
R0009:Il1a	UTSW	2	129,150,994 (GRCm39)	missense	probably damaging	0.99
R0759:Il1a	UTSW	2	129,146,607 (GRCm39)	missense	probably damaging	1.00
R1388:Il1a	UTSW	2	129,148,501 (GRCm39)	missense	possibly damaging	0.92
R1521:Il1a	UTSW	2	129,146,661 (GRCm39)	missense	possibly damaging	0.83
R1699:Il1a	UTSW	2	129,144,813 (GRCm39)	missense	probably damaging	0.98
R3833:Il1a	UTSW	2	129,148,599 (GRCm39)	missense	possibly damaging	0.81
R4591:Il1a	UTSW	2	129,148,447 (GRCm39)	missense	probably damaging	1.00
R4643:Il1a	UTSW	2	129,146,623 (GRCm39)	missense	probably benign
R5433:Il1a	UTSW	2	129,149,821 (GRCm39)	missense	possibly damaging	0.79
R5572:Il1a	UTSW	2	129,149,838 (GRCm39)	missense	possibly damaging	0.83
R7345:Il1a	UTSW	2	129,146,693 (GRCm39)	missense	probably benign
R7876:Il1a	UTSW	2	129,142,762 (GRCm39)	missense	probably damaging	1.00
R8116:Il1a	UTSW	2	129,144,864 (GRCm39)	missense	probably damaging	1.00
R8162:Il1a	UTSW	2	129,148,477 (GRCm39)	missense	possibly damaging	0.92
R8248:Il1a	UTSW	2	129,144,881 (GRCm39)	missense	probably benign
R9048:Il1a	UTSW	2	129,148,441 (GRCm39)	missense	probably benign
R9127:Il1a	UTSW	2	129,146,715 (GRCm39)	missense	possibly damaging	0.66
R9320:Il1a	UTSW	2	129,142,654 (GRCm39)	missense	probably benign	0.16
R9323:Il1a	UTSW	2	129,149,826 (GRCm39)	missense	probably benign	0.24
RF003:Il1a	UTSW	2	129,144,852 (GRCm39)	missense	possibly damaging	0.56

Posted On

2015-04-16