Mutagenetix > Incidental Mutation

Incidental Mutation 'R4080:Aim2'

316790

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

Ifi210, LOC383619

MMRRC Submission

040856-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4080 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173178445-173293606 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 173287417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000151176] [ENSMUST00000166137] [ENSMUST00000173023]

AlphaFold

Q91VJ1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135370

Predicted Effect

probably null
Transcript: ENSMUST00000147604

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860

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

Predicted Effect

probably benign
Transcript: ENSMUST00000151176

SMART Domains

Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860

Domain	Start	End	E-Value	Type
PYRIN	6	79	9.28e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000166137

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860

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

Meta Mutation Damage Score

0.8889

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	A	T	6: 23,109,497 (GRCm39)	D324E	possibly damaging	Het
Adam7	T	C	14: 68,757,988 (GRCm39)	T245A	probably benign	Het
Adgrf3	G	A	5: 30,402,367 (GRCm39)	Q554*	probably null	Het
Arhgef1	G	T	7: 24,625,271 (GRCm39)	D850Y	probably damaging	Het
Aspm	C	A	1: 139,398,493 (GRCm39)	Q1024K	probably damaging	Het
C7	T	C	15: 5,019,946 (GRCm39)	S734G	probably benign	Het
Ccdc158	A	T	5: 92,771,255 (GRCm39)	S987T	probably benign	Het
Chrna2	C	A	14: 66,380,873 (GRCm39)	Y47*	probably null	Het
Chrna2	G	T	14: 66,380,866 (GRCm39)	G45V	probably benign	Het
Clec2g	C	A	6: 128,958,287 (GRCm39)	Q117K	probably damaging	Het
Cntnap5a	A	G	1: 116,029,304 (GRCm39)	S253G	probably benign	Het
Cttn	T	A	7: 144,011,461 (GRCm39)	D116V	probably damaging	Het
Cyp2c40	A	G	19: 39,790,973 (GRCm39)	V286A	probably benign	Het
Dcbld2	T	A	16: 58,285,736 (GRCm39)	S632T	probably damaging	Het
Dscam	A	T	16: 96,484,972 (GRCm39)	N1118K	probably benign	Het
Eif2a	C	T	3: 58,447,050 (GRCm39)	T92M	possibly damaging	Het
Frmpd1	T	A	4: 45,284,382 (GRCm39)	C1068S	probably benign	Het
Fstl1	G	A	16: 37,642,965 (GRCm39)	V110I	probably benign	Het
Gpat2	T	C	2: 127,275,542 (GRCm39)	I465T	probably damaging	Het
Gpr137	C	T	19: 6,917,791 (GRCm39)		probably benign	Het
Hgsnat	A	G	8: 26,436,371 (GRCm39)	I561T	probably benign	Het
Ift74	T	A	4: 94,541,149 (GRCm39)		probably null	Het
Ilf3	A	G	9: 21,314,430 (GRCm39)		probably null	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 53,032,934 (GRCm39)	74	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc41	C	A	4: 115,937,743 (GRCm39)		probably null	Het
Myh11	C	A	16: 14,041,923 (GRCm39)	R700L	possibly damaging	Het
Myo16	A	G	8: 10,612,240 (GRCm39)	D1295G	probably damaging	Het
Myo5b	A	G	18: 74,873,559 (GRCm39)	M1488V	probably benign	Het
Naip6	A	T	13: 100,435,815 (GRCm39)	Y903N	probably damaging	Het
Nek6	A	G	2: 38,440,649 (GRCm39)	H19R	probably damaging	Het
Nktr	A	C	9: 121,570,192 (GRCm39)	T127P	probably damaging	Het
Noc4l	A	T	5: 110,797,738 (GRCm39)	D335E	probably benign	Het
Nsd1	A	G	13: 55,449,622 (GRCm39)	D1993G	probably damaging	Het
Or1ad1	G	A	11: 50,875,683 (GRCm39)	D52N	probably damaging	Het
Or5h22	A	T	16: 58,894,619 (GRCm39)	F275I	probably damaging	Het
Pabpc2	A	T	18: 39,908,583 (GRCm39)	Q616L	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,832 (GRCm39)	D127V	probably damaging	Het
Phrf1	T	C	7: 140,839,633 (GRCm39)		probably benign	Het
Phtf2	T	A	5: 21,018,294 (GRCm39)	I16F	probably damaging	Het
Plekhg3	G	T	12: 76,624,755 (GRCm39)	R1200L	probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prorp	G	T	12: 55,351,398 (GRCm39)	V236F	possibly damaging	Het
Prss12	A	G	3: 123,279,134 (GRCm39)	N404D	probably benign	Het
Ptch2	C	G	4: 116,968,403 (GRCm39)	A926G	probably damaging	Het
Ptpra	T	C	2: 30,333,317 (GRCm39)	F6L	probably damaging	Het
Reck	T	C	4: 43,942,293 (GRCm39)	I853T	possibly damaging	Het
Reep6	G	A	10: 80,165,996 (GRCm39)		probably benign	Het
Rex2	T	A	4: 147,143,154 (GRCm39)	S547R	probably benign	Het
Rgs22	C	T	15: 36,107,222 (GRCm39)	E55K	probably damaging	Het
Rtl6	T	C	15: 84,441,202 (GRCm39)	T65A	possibly damaging	Het
Scarb1	G	T	5: 125,354,859 (GRCm39)	P491Q	probably damaging	Het
Scfd1	A	G	12: 51,478,302 (GRCm39)	S505G	probably benign	Het
Scube1	T	G	15: 83,492,948 (GRCm39)	Q904P	probably damaging	Het
Sis	T	C	3: 72,828,517 (GRCm39)	Y1186C	probably damaging	Het
Spta1	A	G	1: 174,041,632 (GRCm39)	D1334G	probably benign	Het
Spty2d1	T	C	7: 46,648,329 (GRCm39)	E200G	probably damaging	Het
Stard13	C	A	5: 151,016,294 (GRCm39)		probably null	Het
Sybu	T	C	15: 44,582,339 (GRCm39)	K95R	probably damaging	Het
Trappc9	T	A	15: 72,813,796 (GRCm39)	D488V	probably damaging	Het
Txk	G	A	5: 72,858,006 (GRCm39)	P381S	probably damaging	Het
Ubr2	A	T	17: 47,299,648 (GRCm39)	M198K	probably benign	Het
Unc5a	A	T	13: 55,152,294 (GRCm39)	T786S	possibly damaging	Het
Unc93b1	G	A	19: 3,991,959 (GRCm39)	R231Q	probably damaging	Het
Wfdc1	T	A	8: 120,410,532 (GRCm39)		probably null	Het
Zfp667	T	G	7: 6,308,105 (GRCm39)	C258G	possibly damaging	Het
Zfr	G	A	15: 12,162,319 (GRCm39)	R823H	probably benign	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
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
R6290:Aim2	UTSW	1	173,289,681 (GRCm39)	missense	possibly damaging	0.48
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'- CTCAGCCATGCTTACTCATAGATT -3'
(R):5'- ATTAGAAGCTTCCTGGGCATGG -3'

Sequencing Primer
(F):5'- AATGTATCTGTTACTTGTTTCTTCCC -3'
(R):5'- CTGGGCATGGACGCTGATG -3'

Posted On

2015-05-15