Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Aen'

278128

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aen

Ensembl Gene

ENSMUSG00000030609

Gene Name

apoptosis enhancing nuclease

Synonyms

Isg20l1, 2700083B06Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

78895854-78911209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78907302 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 299 (M299I)

Ref Sequence

ENSEMBL: ENSMUSP00000103048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107421] [ENSMUST00000107423] [ENSMUST00000107425] [ENSMUST00000138167] [ENSMUST00000205861] [ENSMUST00000205882]

Predicted Effect

probably damaging
Transcript: ENSMUST00000107421
AA Change: M261I

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

SMART Domains

Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: M261I

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
EXOIII	70	236	2.04e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107423
AA Change: M299I

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

SMART Domains

Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: M299I

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
EXOIII	108	274	2.04e-42	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107425
AA Change: M299I

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

SMART Domains

Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: M299I

Domain	Start	End	E-Value	Type
low complexity region	25	37	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
EXOIII	108	274	2.04e-42	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123824

Predicted Effect

probably benign
Transcript: ENSMUST00000138167

SMART Domains

Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609

Domain	Start	End	E-Value	Type
low complexity region	17	28	N/A	INTRINSIC
Pfam:RNase_T	72	138	1.9e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205861
AA Change: M157I

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000205882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206661

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Myh1	T	A	11: 67,217,862	M1368K	probably benign	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Aen

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01062:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01065:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01067:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01068:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01069:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01070:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01086:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01089:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01126:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01128:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01133:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01134:Aen	APN	7	78907302	missense	probably damaging	0.96
IGL01147:Aen	APN	7	78907302	missense	probably damaging	0.96
R1433:Aen	UTSW	7	78907312	missense	probably damaging	1.00
R1543:Aen	UTSW	7	78902622	missense	probably damaging	1.00
R1615:Aen	UTSW	7	78905912	missense	probably damaging	1.00
R1886:Aen	UTSW	7	78907325	missense	probably damaging	0.98
R1887:Aen	UTSW	7	78907325	missense	probably damaging	0.98
R1918:Aen	UTSW	7	78906029	missense	possibly damaging	0.96
R1919:Aen	UTSW	7	78905912	missense	probably damaging	1.00
R1946:Aen	UTSW	7	78902672	missense	probably damaging	1.00
R2192:Aen	UTSW	7	78906045	critical splice donor site	probably null
R2224:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2225:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2226:Aen	UTSW	7	78902451	missense	probably benign	0.30
R2244:Aen	UTSW	7	78907297	missense	probably damaging	1.00
R2516:Aen	UTSW	7	78905868	missense	probably damaging	1.00
R4943:Aen	UTSW	7	78902361	missense	probably damaging	0.99
R5634:Aen	UTSW	7	78902507	missense	probably benign	0.01
R5834:Aen	UTSW	7	78907301	missense	probably damaging	1.00
R5961:Aen	UTSW	7	78907159	missense	probably damaging	1.00
R6130:Aen	UTSW	7	78902639	unclassified	probably null
R6255:Aen	UTSW	7	78905844	missense	probably damaging	1.00
R6400:Aen	UTSW	7	78907394	missense	probably benign	0.02
R7303:Aen	UTSW	7	78902456	missense	possibly damaging	0.77
Z1177:Aen	UTSW	7	78902766	missense	possibly damaging	0.95

Posted On

2015-04-16