Mutagenetix > Incidental Mutation

Incidental Mutation 'R7893:Aim2'

609417

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

LOC383619, Ifi210

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7893 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173350879-173466040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173463926 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 299 (V299A)

Ref Sequence

ENSEMBL: ENSMUSP00000119465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000147604] [ENSMUST00000160565] [ENSMUST00000166137] [ENSMUST00000173023]

AlphaFold

Q91VJ1

PDB Structure

Structure of murine DNA binding protein bound with ds DNA [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147604
AA Change: V299A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: V299A

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: ENSMUST00000160565

SMART Domains

Protein: ENSMUSP00000134646
Gene: ENSMUSG00000037849

Domain	Start	End	E-Value	Type
PYRIN	6	84	5.7e-21	SMART
low complexity region	97	108	N/A	INTRINSIC
internal_repeat_1	154	349	6.25e-15	PROSPERO
internal_repeat_1	342	575	6.25e-15	PROSPERO

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166137
AA Change: V299A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: V299A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,539	W291R	probably damaging	Het
9130019O22Rik	T	A	7: 127,386,544		probably benign	Het
Abca3	A	T	17: 24,385,466	I604F	probably damaging	Het
Adar	T	A	3: 89,750,651	D1062E	probably damaging	Het
Agap2	A	G	10: 127,080,195	T192A	unknown	Het
Arhgap33	T	C	7: 30,528,776	I394V	probably benign	Het
Atg2a	T	C	19: 6,251,296	F800S	probably damaging	Het
Btnl10	T	A	11: 58,923,809	N438K	probably benign	Het
C9	T	A	15: 6,483,245	F283I	possibly damaging	Het
Camk2n2	T	C	16: 20,621,076	N40S	possibly damaging	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Col4a1	T	C	8: 11,220,243	D45G	unknown	Het
Copa	T	A	1: 172,119,565	C1085*	probably null	Het
Cpt1b	A	G	15: 89,423,654		probably null	Het
Cyp24a1	C	G	2: 170,496,516		probably null	Het
Cyp2c40	A	T	19: 39,786,848	V320E	probably damaging	Het
Efcab7	A	T	4: 99,888,861	D210V	probably damaging	Het
Elfn2	G	A	15: 78,673,168	T393I	probably damaging	Het
Fbxw11	A	T	11: 32,720,489	I152L	probably benign	Het
Gab1	A	T	8: 80,784,766	F483L	possibly damaging	Het
Git2	G	T	5: 114,769,676	R43S	possibly damaging	Het
Gm11639	A	C	11: 104,979,360	S3985R	unknown	Het
Gm43302	G	A	5: 105,289,025	Q72*	probably null	Het
Hcn2	T	C	10: 79,724,411	L192P	probably damaging	Het
Htra4	A	C	8: 25,033,679	F290C	possibly damaging	Het
Ide	C	T	19: 37,284,151	V731I		Het
Igsf9	T	C	1: 172,497,302	L929P	probably damaging	Het
Iqgap2	G	A	13: 95,689,709	A535V	probably damaging	Het
Itga10	T	C	3: 96,649,612	W217R	probably damaging	Het
Kdm2b	A	G	5: 122,947,739	F276L	probably benign	Het
Klf16	T	C	10: 80,576,960	S81G	probably benign	Het
L1td1	G	T	4: 98,733,741	C180F	possibly damaging	Het
Map4k2	A	C	19: 6,353,511	H817P	probably damaging	Het
Marf1	A	T	16: 14,146,735	V446D	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Nckipsd	A	G	9: 108,815,389	H604R	probably damaging	Het
Nedd9	A	T	13: 41,315,789	D629E	probably damaging	Het
Nlrp5	C	T	7: 23,418,165	T438I	probably benign	Het
Olfr1238	T	A	2: 89,407,070	Q3L	probably benign	Het
Olfr507	A	G	7: 108,622,637	K275R	probably damaging	Het
Olfr610	A	T	7: 103,506,610	I112N	possibly damaging	Het
Otud7a	G	T	7: 63,758,552	D868Y	probably damaging	Het
Pcdhga6	T	C	18: 37,708,013	L262S	probably damaging	Het
Plec	C	T	15: 76,172,532	V4402I	possibly damaging	Het
Ppp1r14c	A	T	10: 3,423,510	D107V	probably damaging	Het
Prkg1	A	T	19: 30,586,367	C482S	probably damaging	Het
Prpf40a	A	T	2: 53,156,841	N294K	probably benign	Het
Rbpj	A	G	5: 53,645,874	Y148C	probably damaging	Het
Rnf19a	A	G	15: 36,241,668	S742P	possibly damaging	Het
Rnf207	T	A	4: 152,311,438	Q533L	probably damaging	Het
Rsf1	A	G	7: 97,661,958	T632A		Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Sh2d3c	T	A	2: 32,749,376	C491*	probably null	Het
Sik1	A	T	17: 31,850,046	L285Q	probably benign	Het
Sipa1l1	T	A	12: 82,341,568	D189E	probably benign	Het
Slc25a25	G	A	2: 32,451,165	Q54*	probably null	Het
Slu7	T	C	11: 43,444,836		probably null	Het
Sorbs3	T	A	14: 70,193,916	N265I	probably benign	Het
Sspo	A	T	6: 48,463,310	E1645V	probably benign	Het
Swap70	A	G	7: 110,221,875	D22G	probably benign	Het
Ttc34	T	C	4: 154,861,300	C264R	probably benign	Het
Ttll2	T	A	17: 7,352,091	T146S	probably benign	Het
Ttn	C	T	2: 76,927,204	E3402K	unknown	Het
Twf1	A	T	15: 94,584,446	S140T	probably benign	Het
Vmn1r12	T	C	6: 57,159,434	L172P	probably damaging	Het
Vmn1r19	T	A	6: 57,404,679	N72K	probably damaging	Het
Vmn2r17	G	A	5: 109,428,078	E272K	probably benign	Het
Zfpm2	A	G	15: 41,102,612	D831G	probably damaging	Het

Other mutations in Aim2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Aim2	APN	1	173455465	missense	probably benign	0.23
IGL01086:Aim2	APN	1	173455433	missense	probably damaging	0.99
IGL02292:Aim2	APN	1	173462274	missense	probably benign	0.05
IGL02382:Aim2	APN	1	173459749	splice site	probably null
R0226:Aim2	UTSW	1	173462333	unclassified	probably benign
R0609:Aim2	UTSW	1	173461964	missense	probably damaging	0.98
R1281:Aim2	UTSW	1	173459811	nonsense	probably null
R2054:Aim2	UTSW	1	173463982	missense	probably damaging	1.00
R2110:Aim2	UTSW	1	173459713	missense	probably benign	0.00
R4080:Aim2	UTSW	1	173459851	critical splice donor site	probably null
R4081:Aim2	UTSW	1	173459851	critical splice donor site	probably null
R4082:Aim2	UTSW	1	173459851	critical splice donor site	probably null
R4452:Aim2	UTSW	1	173455444	missense	possibly damaging	0.63
R4647:Aim2	UTSW	1	173455524	synonymous	silent
R4731:Aim2	UTSW	1	173463876	missense	possibly damaging	0.83
R4732:Aim2	UTSW	1	173463876	missense	possibly damaging	0.83
R4733:Aim2	UTSW	1	173463876	missense	possibly damaging	0.83
R4923:Aim2	UTSW	1	173459806	missense	probably benign	0.04
R5009:Aim2	UTSW	1	173455366	missense	probably damaging	0.96
R6290:Aim2	UTSW	1	173462115	missense	possibly damaging	0.48
R6372:Aim2	UTSW	1	173455236	splice site	probably null
R6821:Aim2	UTSW	1	173463980	missense	probably damaging	1.00
R6836:Aim2	UTSW	1	173463980	missense	probably damaging	1.00
R6838:Aim2	UTSW	1	173463980	missense	probably damaging	1.00
R6994:Aim2	UTSW	1	173455586	missense	possibly damaging	0.80
R8175:Aim2	UTSW	1	173455354	start codon destroyed	possibly damaging	0.75
R8459:Aim2	UTSW	1	173461970	unclassified	probably benign
R8680:Aim2	UTSW	1	173462220	missense	probably damaging	1.00
X0021:Aim2	UTSW	1	173463919	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCCTTCCACTGAGATTTG -3'
(R):5'- GGTCTGTGAGATGCAAAGGC -3'

Sequencing Primer
(F):5'- CCACTGAGATTTGCTAGAATCTG -3'
(R):5'- GGCATACATATTAAGCTCTTCTCTG -3'

Posted On

2019-12-20