Mutagenetix > Incidental Mutation

Incidental Mutation 'R5634:Aen'

440029

Institutional Source

Beutler Lab

Gene Symbol

Aen

Ensembl Gene

ENSMUSG00000030609

Gene Name

apoptosis enhancing nuclease

Synonyms

Isg20l1, 2700083B06Rik

MMRRC Submission

043285-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5634 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78895854-78911209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78902507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 34 (T34S)

Ref Sequence

ENSEMBL: ENSMUSP00000117331 (fasta)

Gene Model

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

AlphaFold

Q9CZI9

Predicted Effect

probably benign
Transcript: ENSMUST00000107421
AA Change: T34S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103044
Gene: ENSMUSG00000030609
AA Change: T34S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107423
AA Change: T72S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103046
Gene: ENSMUSG00000030609
AA Change: T72S

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 benign
Transcript: ENSMUST00000107425
AA Change: T72S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103048
Gene: ENSMUSG00000030609
AA Change: T72S

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
AA Change: T34S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000117331
Gene: ENSMUSG00000030609
AA Change: T34S

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

noncoding transcript
Transcript: ENSMUST00000172017

Predicted Effect

probably benign
Transcript: ENSMUST00000205861

Predicted Effect

probably benign
Transcript: ENSMUST00000205882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206661

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	C	9: 53,583,621		probably benign	Het
Apoh	T	A	11: 108,412,049	V280E	probably damaging	Het
Ccdc87	A	G	19: 4,840,665	H395R	probably benign	Het
Ccrl2	T	A	9: 111,055,987		probably null	Het
Cdh20	T	C	1: 104,975,075	F497S	probably damaging	Het
Cfap54	C	A	10: 92,904,263		probably benign	Het
Cipc	T	A	12: 86,952,975		probably null	Het
Col14a1	T	A	15: 55,518,298	Y1756N	probably damaging	Het
Cyp2c54	G	A	19: 40,072,414	A95V	possibly damaging	Het
Dcdc5	A	G	2: 106,403,980		noncoding transcript	Het
Dnah17	T	C	11: 118,052,926		probably null	Het
Eepd1	A	T	9: 25,603,553	N552I	probably benign	Het
Eif2ak4	A	T	2: 118,462,311	R1218W	probably damaging	Het
Fbxw18	T	A	9: 109,676,803	I467F	possibly damaging	Het
Ffar4	GCTTCTT	GCTT	19: 38,113,925		probably benign	Het
Gm14025	A	T	2: 129,039,486	D173E	probably benign	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm884	T	C	11: 103,542,014	N1267S	possibly damaging	Het
Gpha2	A	G	19: 6,226,860	T25A	probably benign	Het
Grin3a	T	A	4: 49,792,843	I297F	probably damaging	Het
Herc2	G	A	7: 56,206,783	G3924R	probably damaging	Het
Hmcn2	G	T	2: 31,333,881	D97Y	probably damaging	Het
Igdcc4	G	A	9: 65,134,546	G1131D	probably benign	Het
Il18rap	T	C	1: 40,539,376		probably benign	Het
Ino80d	C	A	1: 63,062,283		probably benign	Het
Klhl1	T	C	14: 96,240,271	T454A	probably damaging	Het
Krt84	C	A	15: 101,528,649	V360L	probably benign	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Mapkbp1	A	G	2: 119,973,095	N15S	probably damaging	Het
Med13l	T	C	5: 118,560,850	F22S	possibly damaging	Het
Mrc2	T	A	11: 105,336,214	C548*	probably null	Het
Nacad	T	C	11: 6,602,387	E268G	possibly damaging	Het
Nfxl1	A	G	5: 72,529,490	C527R	probably damaging	Het
Nphp1	A	T	2: 127,759,650	C412S	possibly damaging	Het
Odf3b	T	A	15: 89,378,207	T70S	probably benign	Het
Olfr1	AGCGGTCGTAGGC	AGC	11: 73,395,654		probably null	Het
Olfr1279	A	G	2: 111,307,092	I296V	probably benign	Het
Per2	C	T	1: 91,444,707	C215Y	probably benign	Het
Pias1	T	C	9: 62,895,973	T343A	probably benign	Het
Pja2	C	T	17: 64,292,867	V541M	probably damaging	Het
Plxna4	G	A	6: 32,237,723	Q608*	probably null	Het
Ppil4	T	A	10: 7,814,778	D398E	probably benign	Het
Ppp4r3a	T	A	12: 101,043,521	D8V	probably damaging	Het
Pstk	A	C	7: 131,371,343	D57A	probably damaging	Het
Ptprd	T	C	4: 76,072,018	I53V	probably benign	Het
Pyroxd2	A	G	19: 42,740,485	F159L	probably benign	Het
Rnf103	A	G	6: 71,509,617	M411V	probably benign	Het
Scn4a	T	C	11: 106,330,004	D943G	probably benign	Het
Sdk2	T	C	11: 113,851,714	T790A	probably damaging	Het
Sfr1	T	C	19: 47,733,871	L242P	probably damaging	Het
Snx25	T	C	8: 46,041,391	D819G	possibly damaging	Het
Sult2b1	A	G	7: 45,734,082	V183A	probably damaging	Het
Tcf4	C	A	18: 69,636,847	S8R	possibly damaging	Het
Ttc7	A	G	17: 87,342,087	D531G	probably benign	Het
Uap1l1	A	C	2: 25,364,133	C271G	probably damaging	Het
Ubtf	T	C	11: 102,310,324	Y268C	probably damaging	Het
Zfp951	A	T	5: 104,815,289	M137K	probably benign	Het

Other mutations in Aen

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01061:Aen	APN	7	78907302	missense	probably damaging	0.96
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
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	splice site	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
R8207:Aen	UTSW	7	78902743	missense	possibly damaging	0.55
R8476:Aen	UTSW	7	78907199	missense	probably damaging	1.00
R9230:Aen	UTSW	7	78902359	missense	probably damaging	0.96
Z1177:Aen	UTSW	7	78902766	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CCAGCCTGAATACCAAGGATG -3'
(R):5'- TCAGGCCGGATGTATTTGTC -3'

Sequencing Primer
(F):5'- CCAAGGATGTGGTTCGGAG -3'
(R):5'- TGTCATAGAGAACGTCACCACTGTAG -3'

Posted On

2016-11-08