Mutagenetix > Incidental Mutation

Incidental Mutation 'R5009:Aim2'

390323

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

Ifi210, LOC383619

MMRRC Submission

042600-MU

Accession Numbers

Essential gene?

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

Stock #

R5009 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173178445-173293606 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173282932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 5 (Y5H)

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 damaging
Transcript: ENSMUST00000147604
AA Change: Y5H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: Y5H

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: ENSMUST00000151176
AA Change: Y5H

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
AA Change: Y5H

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166137
AA Change: Y5H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: Y5H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173023
AA Change: Y5H

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860
AA Change: Y5H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192575

Meta Mutation Damage Score

0.3552

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (91/91)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	T	A	3: 37,487,426 (GRCm39)		probably benign	Het
Atosa	G	A	9: 74,916,171 (GRCm39)	E257K	probably damaging	Het
Atp7b	A	G	8: 22,517,714 (GRCm39)	S375P	possibly damaging	Het
BC106179	C	A	16: 23,043,192 (GRCm39)		probably benign	Het
Brinp3	T	A	1: 146,776,787 (GRCm39)	N411K	probably benign	Het
Cacna1d	A	G	14: 29,801,289 (GRCm39)	V1386A	probably damaging	Het
Cuzd1	T	A	7: 130,913,252 (GRCm39)	Y455F	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dip2b	T	A	15: 100,093,665 (GRCm39)		probably null	Het
Dot1l	G	T	10: 80,607,030 (GRCm39)	R108L	probably benign	Het
Dysf	T	C	6: 84,128,968 (GRCm39)	S1413P	probably damaging	Het
Eea1	C	A	10: 95,846,883 (GRCm39)	R388S	probably benign	Het
Elavl1	C	T	8: 4,351,723 (GRCm39)	R131Q	probably benign	Het
Erich6b	A	G	14: 75,902,596 (GRCm39)	T138A	possibly damaging	Het
Esr1	C	T	10: 4,662,394 (GRCm39)	T4I	probably damaging	Het
Ets1	T	C	9: 32,644,295 (GRCm39)	S152P	possibly damaging	Het
Fcsk	C	T	8: 111,614,462 (GRCm39)	C609Y	probably damaging	Het
Flrt2	T	C	12: 95,746,547 (GRCm39)	V295A	probably damaging	Het
Gm13196	A	G	2: 4,705,149 (GRCm39)		noncoding transcript	Het
Gm5965	T	A	16: 88,575,312 (GRCm39)	Y162N	probably benign	Het
Gm7853	A	T	14: 35,811,466 (GRCm39)		noncoding transcript	Het
Gm8126	C	T	14: 43,119,065 (GRCm39)	A178V	probably benign	Het
Gpihbp1	A	T	15: 75,469,570 (GRCm39)		probably benign	Het
Greb1	T	C	12: 16,774,858 (GRCm39)	T180A	possibly damaging	Het
Gsdme	C	T	6: 50,222,992 (GRCm39)	V108M	possibly damaging	Het
Gtpbp4	T	C	13: 9,039,102 (GRCm39)	Y157C	probably benign	Het
Gvin3	A	G	7: 106,200,767 (GRCm39)		noncoding transcript	Het
Hivep1	T	A	13: 42,312,229 (GRCm39)	F1490I	probably benign	Het
Il17ra	T	C	6: 120,459,168 (GRCm39)	V773A	probably benign	Het
Kctd8	T	A	5: 69,268,076 (GRCm39)	T345S	probably benign	Het
Kdm3b	T	C	18: 34,957,763 (GRCm39)	S1243P	probably benign	Het
Klhdc1	T	C	12: 69,298,712 (GRCm39)	V99A	possibly damaging	Het
Lars1	T	G	18: 42,354,612 (GRCm39)	E778D	probably benign	Het
Map7	C	T	10: 20,137,664 (GRCm39)	R279*	probably null	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Mtbp	A	G	15: 55,466,583 (GRCm39)	D532G	probably benign	Het
Mylk	G	A	16: 34,719,877 (GRCm39)	V597I	probably benign	Het
Necab1	A	G	4: 14,947,503 (GRCm39)		probably benign	Het
Nisch	C	T	14: 30,909,186 (GRCm39)		probably benign	Het
Nlrp1a	T	C	11: 71,013,531 (GRCm39)	D573G	probably benign	Het
Noct	C	A	3: 51,155,482 (GRCm39)	N83K	probably damaging	Het
Or10am5	A	G	7: 6,517,546 (GRCm39)	L294P	probably damaging	Het
Or1b1	C	T	2: 36,995,467 (GRCm39)	R65H	possibly damaging	Het
Or2a12	C	A	6: 42,904,367 (GRCm39)	D67E	probably damaging	Het
Or2ad1	T	C	13: 21,326,435 (GRCm39)	N264S	probably benign	Het
Or52n4b	A	G	7: 108,144,055 (GRCm39)	I106V	probably benign	Het
Or6b13	C	T	7: 139,781,751 (GRCm39)	A311T	probably benign	Het
Or6c201	T	C	10: 128,969,484 (GRCm39)	H51R	probably benign	Het
Osgepl1	T	A	1: 53,357,339 (GRCm39)	V167D	probably damaging	Het
Pabpc6	T	C	17: 9,887,489 (GRCm39)	E354G	probably damaging	Het
Pgghg	A	C	7: 140,523,303 (GRCm39)	D194A	probably benign	Het
Podnl1	A	T	8: 84,852,887 (GRCm39)	H19L	probably benign	Het
Pold1	G	T	7: 44,183,326 (GRCm39)	A977E	probably benign	Het
Poldip3	T	C	15: 83,017,395 (GRCm39)	T227A	probably damaging	Het
Prss43	A	G	9: 110,656,489 (GRCm39)	S59G	possibly damaging	Het
Ptpn14	T	A	1: 189,582,731 (GRCm39)	I526N	probably benign	Het
Ptprb	T	C	10: 116,184,032 (GRCm39)	S1615P	possibly damaging	Het
Ptpro	A	G	6: 137,354,130 (GRCm39)	K169E	probably damaging	Het
Rab15	T	C	12: 76,847,341 (GRCm39)	E114G	probably damaging	Het
Rcvrn	A	G	11: 67,586,550 (GRCm39)	E103G	probably benign	Het
Repin1	T	A	6: 48,571,779 (GRCm39)		probably benign	Het
Rita1	T	A	5: 120,749,448 (GRCm39)	K88N	probably damaging	Het
Rtkn2	T	C	10: 67,877,239 (GRCm39)	V433A	probably benign	Het
Runx1t1	T	C	4: 13,865,231 (GRCm39)	I314T	possibly damaging	Het
Serpinb9c	A	C	13: 33,338,414 (GRCm39)	S190A	probably benign	Het
Shank2	C	A	7: 143,623,916 (GRCm39)	H300Q	probably benign	Het
Slc4a4	A	G	5: 89,297,157 (GRCm39)		probably null	Het
Slc5a8	T	C	10: 88,745,516 (GRCm39)	S375P	probably benign	Het
Spns3	C	A	11: 72,428,027 (GRCm39)	W251L	probably damaging	Het
Spta1	A	G	1: 174,067,789 (GRCm39)	N2072S	possibly damaging	Het
Sptbn1	A	G	11: 30,074,016 (GRCm39)	V1351A	probably benign	Het
Sytl2	A	T	7: 90,030,523 (GRCm39)		probably benign	Het
Tax1bp1	A	G	6: 52,706,478 (GRCm39)		probably benign	Het
Tg	A	G	15: 66,568,435 (GRCm39)	D1374G	probably benign	Het
Tlr1	A	G	5: 65,083,567 (GRCm39)	S337P	probably damaging	Het
Trp63	A	T	16: 25,686,977 (GRCm39)	D303V	probably damaging	Het
Ttn	G	A	2: 76,683,250 (GRCm39)		probably benign	Het
Txndc5	T	C	13: 38,712,160 (GRCm39)		probably null	Het
Vmn2r77	T	G	7: 86,451,015 (GRCm39)	D300E	possibly damaging	Het
Zfp729a	A	T	13: 67,768,365 (GRCm39)	N621K	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
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
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'- ACCACATGCCCTTTGAAAGTATCC -3'
(R):5'- TAATGGCCTTGGTCACTGC -3'

Sequencing Primer
(F):5'- TTGATCATCTTGCATAGCGATTC -3'
(R):5'- TTGGTCACTGCAGACGC -3'

Posted On

2016-06-06