Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02749:Eny2'

306190

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 #

IGL02749

Quality Score

Status

Chromosome

Chromosomal Location

44291488-44301652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44293031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 28 (R28C)

Ref Sequence

ENSEMBL: ENSMUSP00000154687 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000060652
AA Change: R28C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000052905
Gene: ENSMUSG00000022338
AA Change: R28C

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: R28C

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

unknown
Transcript: ENSMUST00000226355
AA Change: R28W

Predicted Effect

probably benign
Transcript: ENSMUST00000226606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226660

Predicted Effect

probably benign
Transcript: ENSMUST00000227425
AA Change: R28C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000226827
AA Change: R23C

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

unknown
Transcript: ENSMUST00000228130
AA Change: R23W

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227645

Predicted Effect

probably benign
Transcript: ENSMUST00000227843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228372

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230104M06Rik	T	C	12: 112,963,795 (GRCm39)	D61G	probably benign	Het
Albfm1	T	C	5: 90,719,624 (GRCm39)	V240A	possibly damaging	Het
Ascc2	G	A	11: 4,590,481 (GRCm39)		probably null	Het
Atrn	C	T	2: 130,812,064 (GRCm39)	Q670*	probably null	Het
Atrn	G	T	2: 130,789,654 (GRCm39)		probably benign	Het
Calr	A	C	8: 85,571,117 (GRCm39)	W236G	probably damaging	Het
Camk2g	T	A	14: 20,816,084 (GRCm39)		probably null	Het
Cd101	G	T	3: 100,927,715 (GRCm39)	T122K	probably damaging	Het
Cert1	T	A	13: 96,765,643 (GRCm39)	N469K	possibly damaging	Het
Cryl1	T	C	14: 57,541,181 (GRCm39)	T168A	probably benign	Het
Diaph3	A	G	14: 87,156,261 (GRCm39)	I684T	probably damaging	Het
Ednrb	A	T	14: 104,060,495 (GRCm39)	M266K	possibly damaging	Het
Eif4h	T	C	5: 134,668,146 (GRCm39)	D3G	probably damaging	Het
Epsti1	A	G	14: 78,177,363 (GRCm39)	E181G	probably damaging	Het
Ezh2	A	G	6: 47,510,698 (GRCm39)	F598S	probably damaging	Het
Fat3	G	T	9: 15,918,007 (GRCm39)	T1472K	possibly damaging	Het
Gabra4	T	A	5: 71,795,490 (GRCm39)	I262F	probably benign	Het
Gpat4	A	T	8: 23,670,886 (GRCm39)	Y109N	probably damaging	Het
Gpsm1	C	T	2: 26,229,687 (GRCm39)	T36I	probably damaging	Het
Hikeshi	C	T	7: 89,585,097 (GRCm39)	V36I	possibly damaging	Het
Hip1	T	C	5: 135,473,605 (GRCm39)	M238V	probably benign	Het
Hnrnpll	A	T	17: 80,369,420 (GRCm39)	M1K	probably null	Het
Irx2	G	A	13: 72,779,429 (GRCm39)	D238N	probably damaging	Het
Kcnip4	T	A	5: 48,567,127 (GRCm39)		probably benign	Het
Lair1	G	A	7: 4,031,900 (GRCm39)	T69I	possibly damaging	Het
Lamc1	A	G	1: 153,125,599 (GRCm39)	I558T	possibly damaging	Het
Map4k5	C	T	12: 69,862,580 (GRCm39)	E639K	probably benign	Het
Mc4r	A	G	18: 66,992,733 (GRCm39)	S127P	probably damaging	Het
Mmp23	A	G	4: 155,735,989 (GRCm39)	M221T	possibly damaging	Het
Mre11a	T	C	9: 14,737,887 (GRCm39)	S587P	possibly damaging	Het
Myh9	A	T	15: 77,692,186 (GRCm39)	Y124*	probably null	Het
Nek9	C	A	12: 85,352,281 (GRCm39)	A861S	probably benign	Het
Nup155	T	A	15: 8,163,560 (GRCm39)	Y576N	probably damaging	Het
Or5w10	C	T	2: 87,375,001 (GRCm39)	V296M	probably damaging	Het
Pcca	A	T	14: 122,771,800 (GRCm39)	T8S	probably benign	Het
Pcdh15	A	G	10: 74,466,900 (GRCm39)	D1573G	probably benign	Het
Pdpr	T	A	8: 111,844,722 (GRCm39)	V373E	probably benign	Het
Pdzph1	A	T	17: 59,239,478 (GRCm39)	L950Q	possibly damaging	Het
Pira13	A	G	7: 3,825,624 (GRCm39)	I415T	probably damaging	Het
Prss35	A	C	9: 86,638,297 (GRCm39)	K356Q	probably damaging	Het
Psg22	A	T	7: 18,456,944 (GRCm39)	T237S	possibly damaging	Het
Rdh13	A	G	7: 4,430,703 (GRCm39)	Y252H	probably damaging	Het
Sema3d	T	C	5: 12,613,112 (GRCm39)		probably benign	Het
Slc35b2	G	A	17: 45,877,493 (GRCm39)	V207I	probably benign	Het
Sparcl1	T	G	5: 104,240,746 (GRCm39)	E226A	possibly damaging	Het
Srms	C	A	2: 180,851,302 (GRCm39)	A155S	possibly damaging	Het
Tas2r107	A	T	6: 131,636,917 (GRCm39)	I44N	probably damaging	Het
Tmem236	C	T	2: 14,224,132 (GRCm39)	T307M	probably damaging	Het
Ush2a	C	T	1: 188,679,155 (GRCm39)	P4788S	probably damaging	Het
Vmn1r170	A	T	7: 23,305,716 (GRCm39)	L39F	probably benign	Het
Vmn2r90	T	A	17: 17,947,122 (GRCm39)	*121R	probably null	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
IGL02667:Eny2	APN	15	44,292,984 (GRCm39)	missense	possibly damaging	0.84
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