Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:Aim2'

534544

Institutional Source

Beutler Lab

Gene Symbol

Aim2

Ensembl Gene

ENSMUSG00000037860

Gene Name

absent in melanoma 2

Synonyms

LOC383619, Ifi210

Accession Numbers

Essential gene?

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

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173350879-173466040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 173463980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Arginine at position 317 (T317R)

Ref Sequence

ENSEMBL: ENSMUSP00000132253 (fasta)

Gene Model

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

AlphaFold

Q91VJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000147604
AA Change: T317R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
AA Change: T317R

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

probably damaging
Transcript: ENSMUST00000166137
AA Change: T317R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132253
Gene: ENSMUSG00000037860
AA Change: T317R

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

Meta Mutation Damage Score

0.6409

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
AU018091	T	G	7: 3,164,156	D77A	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,143,136	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Olfr539	A	C	7: 140,668,180	I298L	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,835,195	S352G	probably benign	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,321,632	V451I	probably benign	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	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
R6838:Aim2	UTSW	1	173463980	missense	probably damaging	1.00
R6994:Aim2	UTSW	1	173455586	missense	possibly damaging	0.80
R7893:Aim2	UTSW	1	173463926	missense	possibly damaging	0.95
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'- TGCTCCTAGCTTGTCTGATAACTG -3'
(R):5'- TGAATGACAGGCTTCTCAGGTC -3'

Sequencing Primer
(F):5'- GTCTGATAACTGATTGATATGCTGC -3'
(R):5'- TCTCAGGTCTGTGAGATGCAAAG -3'

Posted On

2018-09-12