Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02667:Eny2'

302771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eny2

Ensembl Gene

ENSMUSG00000022338

Gene Name

ENY2 transcription and export complex 2 subunit

Synonyms

1810057B09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.867) question?

Stock #

IGL02667

Quality Score

Status

Chromosome

Chromosomal Location

44291488-44301652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44292984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 12 (M12K)

Ref Sequence

ENSEMBL: ENSMUSP00000052905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038719] [ENSMUST00000060652] [ENSMUST00000226336] [ENSMUST00000226355] [ENSMUST00000226606] [ENSMUST00000226827] [ENSMUST00000228130] [ENSMUST00000227425] [ENSMUST00000227843]

AlphaFold

Q9JIX0

Predicted Effect

probably benign
Transcript: ENSMUST00000038719

SMART Domains

Protein: ENSMUSP00000042746
Gene: ENSMUSG00000038736

Domain	Start	End	E-Value	Type
Pfam:CS	275	349	1.4e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060652
AA Change: M12K

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052905
Gene: ENSMUSG00000022338
AA Change: M12K

Domain	Start	End	E-Value	Type
Pfam:EnY2	13	95	5.7e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177971

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226336
AA Change: M12K

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

unknown
Transcript: ENSMUST00000226355
AA Change: M12K

Predicted Effect

probably benign
Transcript: ENSMUST00000226606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226660

Predicted Effect

probably benign
Transcript: ENSMUST00000226827
AA Change: M7K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

unknown
Transcript: ENSMUST00000228130
AA Change: M7K

Predicted Effect

probably benign
Transcript: ENSMUST00000227425
AA Change: M12K

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228372

Predicted Effect

probably benign
Transcript: ENSMUST00000227843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227789

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6530409C15Rik	A	G	6: 28,217,670 (GRCm39)		noncoding transcript	Het
Akr1e1	G	A	13: 4,645,666 (GRCm39)	P174L	possibly damaging	Het
Arf5	C	A	6: 28,425,198 (GRCm39)	N95K	probably damaging	Het
Atl3	T	C	19: 7,486,781 (GRCm39)	F39L	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Cyp2a12	T	C	7: 26,730,583 (GRCm39)	S183P	probably damaging	Het
Dicer1	T	A	12: 104,681,165 (GRCm39)	R449S	probably damaging	Het
Dlec1	T	C	9: 118,956,534 (GRCm39)	I736T	probably benign	Het
Fbxl21	C	T	13: 56,684,942 (GRCm39)	R349C	probably benign	Het
Gstm2	A	G	3: 107,893,424 (GRCm39)	L13P	probably damaging	Het
Gucy2g	G	A	19: 55,194,609 (GRCm39)	T936M	possibly damaging	Het
Mbp	G	T	18: 82,572,740 (GRCm39)	K12N	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myo18a	A	G	11: 77,748,678 (GRCm39)		probably benign	Het
Nr2f2	T	C	7: 70,007,733 (GRCm39)	S117G	probably damaging	Het
Pi4k2b	T	C	5: 52,907,947 (GRCm39)		probably benign	Het
Pi4ka	A	G	16: 17,113,325 (GRCm39)	F1504L	possibly damaging	Het
Ppm1d	T	C	11: 85,223,111 (GRCm39)	W239R	probably damaging	Het
Setd1b	T	A	5: 123,295,560 (GRCm39)	S1043T	unknown	Het
Tgfbrap1	T	C	1: 43,106,780 (GRCm39)	I298V	probably benign	Het
Tmem190	T	A	7: 4,786,157 (GRCm39)	D20E	probably benign	Het
Tph2	A	T	10: 114,915,950 (GRCm39)	C408S	probably benign	Het
Trmt44	A	C	5: 35,728,396 (GRCm39)	Y295D	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Tut4	T	C	4: 108,415,905 (GRCm39)		probably benign	Het
Ubn1	A	G	16: 4,880,463 (GRCm39)	E134G	probably damaging	Het

Other mutations in Eny2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Eny2	APN	15	44,295,831 (GRCm39)	splice site	probably null
IGL02749:Eny2	APN	15	44,293,031 (GRCm39)	missense	possibly damaging	0.85
R0479:Eny2	UTSW	15	44,299,000 (GRCm39)	splice site	probably null
R1681:Eny2	UTSW	15	44,295,874 (GRCm39)	missense	probably damaging	0.99
R6197:Eny2	UTSW	15	44,292,949 (GRCm39)	splice site	probably null
R6233:Eny2	UTSW	15	44,297,056 (GRCm39)	splice site	probably null
R7239:Eny2	UTSW	15	44,297,250 (GRCm39)	missense	probably benign	0.15

Posted On

2015-04-16