Mutagenetix > Incidental Mutation

Incidental Mutation 'R8175:Aim2'

634264

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

Ifi210, LOC383619

MMRRC Submission

067600-MU

Accession Numbers

Essential gene?

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

Stock #

R8175 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173178445-173293606 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 173282920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000134329 (fasta)

Gene Model

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

AlphaFold

Q91VJ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147604
AA Change: M1L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121333
Gene: ENSMUSG00000037860
AA Change: M1L

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

Predicted Effect

probably null
Transcript: ENSMUST00000166137
AA Change: M1L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: M1L

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

Predicted Effect

probably null
Transcript: ENSMUST00000166137
AA Change: M1L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: M1L

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: M1L

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134329
Gene: ENSMUSG00000037860
AA Change: M1L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts15	C	T	9: 30,815,952 (GRCm39)	V635M	probably damaging	Het
Ank3	T	C	10: 69,729,339 (GRCm39)	V700A	unknown	Het
Arhgap10	T	C	8: 78,037,471 (GRCm39)	T586A	probably benign	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	G	A	1: 34,849,455 (GRCm39)	V349I	probably benign	Het
Atp1a1	A	G	3: 101,492,170 (GRCm39)	F569L	possibly damaging	Het
Btbd10	T	A	7: 112,921,999 (GRCm39)		probably null	Het
Capza2	G	A	6: 17,665,381 (GRCm39)	D270N	probably benign	Het
Cobll1	T	C	2: 64,929,575 (GRCm39)	N584D	probably benign	Het
Coro1c	T	A	5: 113,988,876 (GRCm39)	I156F	probably benign	Het
Cpsf3	T	C	12: 21,350,178 (GRCm39)	I299T	probably benign	Het
Cse1l	T	A	2: 166,785,128 (GRCm39)		probably null	Het
D5Ertd579e	T	C	5: 36,772,814 (GRCm39)	E527G	probably damaging	Het
Dcbld2	T	C	16: 58,253,710 (GRCm39)	L149S	possibly damaging	Het
Ecpas	C	T	4: 58,872,756 (GRCm39)	V182M	probably damaging	Het
Egflam	C	A	15: 7,241,633 (GRCm39)	W925L	probably damaging	Het
Ehmt2	A	G	17: 35,130,396 (GRCm39)	N1071D	probably damaging	Het
Eif3g	A	T	9: 20,809,026 (GRCm39)	S93T	probably damaging	Het
Eipr1	A	G	12: 28,913,106 (GRCm39)	E269G		Het
Eng	C	A	2: 32,568,934 (GRCm39)	T487K	possibly damaging	Het
Epb41l3	T	C	17: 69,517,361 (GRCm39)	Y130H	probably damaging	Het
F5	A	T	1: 164,019,834 (GRCm39)	R770*	probably null	Het
Fam227a	A	G	15: 79,524,861 (GRCm39)	F201S	probably damaging	Het
Fam50b	G	A	13: 34,930,847 (GRCm39)	E108K	probably benign	Het
Fcgbpl1	T	A	7: 27,863,873 (GRCm39)	C2548*	probably null	Het
Fn1	A	G	1: 71,638,824 (GRCm39)	I1971T	probably damaging	Het
Fsip2	T	A	2: 82,815,088 (GRCm39)	F3607Y	probably benign	Het
Fsip2	A	T	2: 82,818,021 (GRCm39)	I4585L	probably benign	Het
Gas1	T	C	13: 60,323,932 (GRCm39)	N275S		Het
Hus1b	A	G	13: 31,131,215 (GRCm39)	V148A	probably benign	Het
Ighmbp2	A	G	19: 3,316,365 (GRCm39)	L575P	possibly damaging	Het
Igsf21	A	T	4: 139,755,542 (GRCm39)	F371Y	probably damaging	Het
Itprid2	A	G	2: 79,488,496 (GRCm39)	R860G	probably damaging	Het
Jade1	G	T	3: 41,567,723 (GRCm39)	R597L	probably benign	Het
Krt4	A	G	15: 101,828,984 (GRCm39)		probably null	Het
Lap3	T	C	5: 45,666,833 (GRCm39)	S412P	probably benign	Het
Lifr	A	G	15: 7,216,496 (GRCm39)	T824A	probably damaging	Het
Megf6	T	A	4: 154,353,076 (GRCm39)	C1307*	probably null	Het
Ndufb10	A	T	17: 24,943,166 (GRCm39)	V48E	possibly damaging	Het
Nelfa	T	C	5: 34,079,357 (GRCm39)	K72R	possibly damaging	Het
Obscn	C	T	11: 58,886,786 (GRCm39)	V7767I	unknown	Het
Pptc7	T	A	5: 122,457,882 (GRCm39)	C284S	probably benign	Het
Pxdc1	A	G	13: 34,812,798 (GRCm39)	S218P	probably damaging	Het
Rabep1	T	A	11: 70,775,755 (GRCm39)	W110R	probably damaging	Het
Ren1	T	C	1: 133,282,007 (GRCm39)	Y79H	possibly damaging	Het
Ripor3	T	C	2: 167,825,679 (GRCm39)	S760G	probably benign	Het
Setd1a	A	G	7: 127,395,415 (GRCm39)	E1327G	unknown	Het
Setd5	T	C	6: 113,091,874 (GRCm39)	W232R	probably damaging	Het
Slf1	A	T	13: 77,260,790 (GRCm39)	H171Q	probably damaging	Het
Smoc1	A	G	12: 81,214,440 (GRCm39)	D285G	probably damaging	Het
Taf10	T	C	7: 105,393,134 (GRCm39)	Y97C	probably damaging	Het
Tgfbr2	G	A	9: 115,939,023 (GRCm39)	S293L	possibly damaging	Het
Tmem181a	A	G	17: 6,346,075 (GRCm39)	I190V	probably benign	Het
Traf6	C	T	2: 101,521,825 (GRCm39)	T220I	possibly damaging	Het
Ube4b	T	C	4: 149,435,973 (GRCm39)	N716D	probably benign	Het
Unc5d	T	A	8: 29,334,855 (GRCm39)	K157N	probably damaging	Het
Usp19	G	A	9: 108,377,377 (GRCm39)	R1255H	probably damaging	Het
Vmn2r12	T	A	5: 109,238,349 (GRCm39)	I464F	probably damaging	Het
Zbtb20	A	T	16: 43,397,443 (GRCm39)		probably benign	Het
Zfp790	T	G	7: 29,529,205 (GRCm39)	L630R	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
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
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'- TCAGGAACCCTAAGAATTCCTAGG -3'
(R):5'- ACCTGCACTTTGAATCAGGTG -3'

Sequencing Primer
(F):5'- GGTTACCACATGCCCTTTGAAAG -3'
(R):5'- AATCAGGTGGTCAGCTAACTCTGTC -3'

Posted On

2020-07-13