Mutagenetix > Incidental Mutation

Incidental Mutation 'R6290:Aim2'

508333

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

Ifi210, LOC383619

MMRRC Submission

044460-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173178445-173293606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173289681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 208 (I208N)

Ref Sequence

ENSEMBL: ENSMUSP00000132253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000166137] [ENSMUST00000173023]

AlphaFold

Q91VJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000147604
AA Change: I208N

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: I208N

Domain	Start	End	E-Value	Type
PYRIN	6	83	2.11e-15	SMART
Pfam:HIN	156	322	2e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166137
AA Change: I208N

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: I208N

Domain	Start	End	E-Value	Type
PYRIN	6	83	2.11e-15	SMART
Pfam:HIN	156	321	9.4e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173023

SMART Domains

Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860

Domain	Start	End	E-Value	Type
PYRIN	6	83	2.11e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192575

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit increased susceptibility to bacterial and viral infections with altered cytokine production and inflammatory cell death (pyrotosis). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Albfm1	T	C	5: 90,740,864 (GRCm39)		probably null	Het
Ank3	A	C	10: 69,827,198 (GRCm39)		probably benign	Het
Arfgef1	T	C	1: 10,259,036 (GRCm39)	E687G	possibly damaging	Het
Ash1l	T	A	3: 88,890,068 (GRCm39)	L649*	probably null	Het
Atp7b	C	T	8: 22,510,836 (GRCm39)	G437S	probably damaging	Het
Cep89	G	A	7: 35,119,688 (GRCm39)	G349D	probably damaging	Het
Cntn6	T	A	6: 104,744,851 (GRCm39)	Y315N	probably damaging	Het
Cspg4b	A	T	13: 113,456,492 (GRCm39)	N846I	probably damaging	Het
Csrp2	T	C	10: 110,767,844 (GRCm39)	C10R	probably damaging	Het
Cux1	T	C	5: 136,340,412 (GRCm39)	N625D	probably damaging	Het
Dnah9	T	C	11: 65,732,201 (GRCm39)	N4235S	probably damaging	Het
Dpy19l1	A	G	9: 24,373,896 (GRCm39)	C265R	probably damaging	Het
Dse	A	G	10: 34,028,336 (GRCm39)	M918T	probably benign	Het
Duox1	C	A	2: 122,164,288 (GRCm39)	T916N	possibly damaging	Het
E130308A19Rik	A	T	4: 59,691,332 (GRCm39)	I389F	probably benign	Het
Eif2ak1	T	A	5: 143,821,617 (GRCm39)	V311D	probably benign	Het
Eps15	T	A	4: 109,220,395 (GRCm39)	M534K	probably benign	Het
Gpr182	A	T	10: 127,586,893 (GRCm39)	F19L	probably benign	Het
Ifi214	T	A	1: 173,356,983 (GRCm39)	D40V	probably damaging	Het
Klhl2	A	G	8: 65,264,351 (GRCm39)	V121A	possibly damaging	Het
Klrh1	A	G	6: 129,743,658 (GRCm39)	Y209H	probably benign	Het
Mylk	T	A	16: 34,715,213 (GRCm39)	S514T	probably benign	Het
Myo18b	C	T	5: 113,013,601 (GRCm39)	R785H	possibly damaging	Het
Naga	T	G	15: 82,219,057 (GRCm39)	D230A	possibly damaging	Het
Napsa	A	G	7: 44,230,761 (GRCm39)	N70D	probably benign	Het
Nup210l	T	A	3: 90,027,216 (GRCm39)	Y199*	probably null	Het
Olfml2b	A	T	1: 170,477,359 (GRCm39)	K165*	probably null	Het
Or1j20	C	T	2: 36,760,448 (GRCm39)	P290L	probably damaging	Het
Paxip1	A	T	5: 27,970,576 (GRCm39)		probably null	Het
Pcyox1	T	A	6: 86,365,881 (GRCm39)	K444N	probably benign	Het
Pikfyve	T	A	1: 65,242,084 (GRCm39)		probably null	Het
Ppp6r3	T	C	19: 3,544,011 (GRCm39)	I335V	probably benign	Het
Prkcz	A	G	4: 155,440,956 (GRCm39)	S71P	probably damaging	Het
Psg19	C	T	7: 18,528,014 (GRCm39)	R243Q	probably benign	Het
Ptbp2	A	T	3: 119,517,769 (GRCm39)	M382K	possibly damaging	Het
Slc16a14	T	A	1: 84,885,106 (GRCm39)	I478L	probably benign	Het
Slc45a1	A	T	4: 150,727,096 (GRCm39)	N174K	probably damaging	Het
Slc5a5	G	A	8: 71,343,822 (GRCm39)	T160I	probably damaging	Het
Smpdl3b	T	A	4: 132,465,586 (GRCm39)	H278L	possibly damaging	Het
Sorcs2	C	T	5: 36,219,931 (GRCm39)	R371H	probably damaging	Het
Synpo2	A	T	3: 122,910,701 (GRCm39)	S315T	probably damaging	Het
Taok3	A	G	5: 117,342,433 (GRCm39)	Y137C	probably damaging	Het
Tapbpl	T	C	6: 125,207,679 (GRCm39)	D49G	probably benign	Het
Tbr1	T	C	2: 61,635,394 (GRCm39)	S115P	probably benign	Het
Trim67	C	T	8: 125,549,918 (GRCm39)	T516I	probably benign	Het
Trrap	T	A	5: 144,741,828 (GRCm39)	L1351Q	probably damaging	Het
Tsc2	A	G	17: 24,815,884 (GRCm39)	I166T	probably benign	Het
Tspan8	T	A	10: 115,663,729 (GRCm39)	C22S	probably damaging	Het
Tyro3	T	C	2: 119,647,321 (GRCm39)	S813P	probably benign	Het
U2af2	G	T	7: 5,078,683 (GRCm39)	V421L	probably benign	Het
Vmn1r77	T	C	7: 11,775,736 (GRCm39)	S103P	probably damaging	Het
Vmn2r1	T	A	3: 64,012,873 (GRCm39)	D911E	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Vmn2r56	A	T	7: 12,428,809 (GRCm39)	C486S	probably damaging	Het
Vwa8	A	G	14: 79,331,772 (GRCm39)		probably null	Het
Xirp1	T	G	9: 119,847,791 (GRCm39)	E364A	probably benign	Het
Zbp1	T	C	2: 173,057,634 (GRCm39)	E99G	probably damaging	Het
Zfp385b	C	A	2: 77,280,612 (GRCm39)	V109F	possibly damaging	Het

Other mutations in Aim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Aim2	APN	1	173,283,031 (GRCm39)	missense	probably benign	0.23
IGL01086:Aim2	APN	1	173,282,999 (GRCm39)	missense	probably damaging	0.99
IGL02292:Aim2	APN	1	173,289,840 (GRCm39)	missense	probably benign	0.05
IGL02382:Aim2	APN	1	173,287,315 (GRCm39)	splice site	probably null
R0226:Aim2	UTSW	1	173,289,899 (GRCm39)	unclassified	probably benign
R0609:Aim2	UTSW	1	173,289,530 (GRCm39)	missense	probably damaging	0.98
R1281:Aim2	UTSW	1	173,287,377 (GRCm39)	nonsense	probably null
R2054:Aim2	UTSW	1	173,291,548 (GRCm39)	missense	probably damaging	1.00
R2110:Aim2	UTSW	1	173,287,279 (GRCm39)	missense	probably benign	0.00
R4080:Aim2	UTSW	1	173,287,417 (GRCm39)	critical splice donor site	probably null
R4081:Aim2	UTSW	1	173,287,417 (GRCm39)	critical splice donor site	probably null
R4082:Aim2	UTSW	1	173,287,417 (GRCm39)	critical splice donor site	probably null
R4452:Aim2	UTSW	1	173,283,010 (GRCm39)	missense	possibly damaging	0.63
R4647:Aim2	UTSW	1	173,283,090 (GRCm39)	synonymous	silent
R4731:Aim2	UTSW	1	173,291,442 (GRCm39)	missense	possibly damaging	0.83
R4732:Aim2	UTSW	1	173,291,442 (GRCm39)	missense	possibly damaging	0.83
R4733:Aim2	UTSW	1	173,291,442 (GRCm39)	missense	possibly damaging	0.83
R4923:Aim2	UTSW	1	173,287,372 (GRCm39)	missense	probably benign	0.04
R5009:Aim2	UTSW	1	173,282,932 (GRCm39)	missense	probably damaging	0.96
R6372:Aim2	UTSW	1	173,282,802 (GRCm39)	splice site	probably null
R6821:Aim2	UTSW	1	173,291,546 (GRCm39)	missense	probably damaging	1.00
R6836:Aim2	UTSW	1	173,291,546 (GRCm39)	missense	probably damaging	1.00
R6838:Aim2	UTSW	1	173,291,546 (GRCm39)	missense	probably damaging	1.00
R6994:Aim2	UTSW	1	173,283,152 (GRCm39)	missense	possibly damaging	0.80
R7893:Aim2	UTSW	1	173,291,492 (GRCm39)	missense	possibly damaging	0.95
R8175:Aim2	UTSW	1	173,282,920 (GRCm39)	start codon destroyed	possibly damaging	0.75
R8459:Aim2	UTSW	1	173,289,536 (GRCm39)	unclassified	probably benign
R8680:Aim2	UTSW	1	173,289,786 (GRCm39)	missense	probably damaging	1.00
X0021:Aim2	UTSW	1	173,291,485 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTTGTCACAGCCTCAGAAG -3'
(R):5'- AATTGTTCCACATGGCTGAATC -3'

Sequencing Primer
(F):5'- TTGTCACAGCCTCAGAAGAAACAG -3'
(R):5'- TCTTCAGTTTACTAATCCTGGGAG -3'

Posted On

2018-03-15