Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01705:Eny2'

104577

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eny2

Ensembl Gene

ENSMUSG00000022338

Gene Name

ENY2 transcription and export complex 2 subunit

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.886) question?

Stock #

IGL01705

Quality Score

Status

Chromosome

Chromosomal Location

44428042-44438256 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 44432435 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154515 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000060652

SMART Domains

Protein: ENSMUSP00000052905
Gene: ENSMUSG00000022338

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177971

Predicted Effect

probably benign
Transcript: ENSMUST00000226336

Predicted Effect

probably benign
Transcript: ENSMUST00000226355

Predicted Effect

probably benign
Transcript: ENSMUST00000226606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226660

Predicted Effect

probably null
Transcript: ENSMUST00000226827

Predicted Effect

probably benign
Transcript: ENSMUST00000227425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227789

Predicted Effect

probably benign
Transcript: ENSMUST00000227843

Predicted Effect

probably benign
Transcript: ENSMUST00000228130

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228319

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232353

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232045

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,032,966	T1077A	possibly damaging	Het
Akap13	T	C	7: 75,746,767	V2504A	possibly damaging	Het
Anks3	A	T	16: 4,947,723	W172R	probably benign	Het
Asap2	T	A	12: 21,249,368	N633K	possibly damaging	Het
Astn1	A	T	1: 158,504,313	S326C	probably damaging	Het
Cachd1	A	G	4: 100,983,539	K900E	possibly damaging	Het
Cd5	A	T	19: 10,726,295		probably null	Het
D130043K22Rik	T	A	13: 24,857,941	N284K	probably benign	Het
Dtna	C	T	18: 23,545,731	A38V	probably damaging	Het
Grm5	A	G	7: 88,130,046	Q930R	possibly damaging	Het
Igkv4-73	A	T	6: 69,197,725		noncoding transcript	Het
Lama2	A	T	10: 27,189,274		probably benign	Het
Lipg	A	G	18: 74,947,971		probably null	Het
Mettl7b	T	A	10: 128,958,862	I198F	probably benign	Het
Neto2	T	C	8: 85,641,003	K371E	probably damaging	Het
Olfr965	T	C	9: 39,719,581	M118T	possibly damaging	Het
Paxbp1	A	G	16: 91,016,988	F834L	probably benign	Het
Paxip1	A	T	5: 27,748,859	S946R	probably damaging	Het
Pclo	A	G	5: 14,677,865		probably benign	Het
Plcg2	T	C	8: 117,581,662	L331P	probably damaging	Het
Reep1	A	G	6: 71,773,288	T95A	probably damaging	Het
Rfx2	A	G	17: 56,785,303	Y332H	possibly damaging	Het
Smchd1	A	T	17: 71,381,398	D1288E	probably damaging	Het
Spag17	A	G	3: 100,022,730	M582V	probably benign	Het
Susd1	A	G	4: 59,332,931		probably benign	Het
Syt9	T	G	7: 107,436,352	L192R	probably damaging	Het
Tlr6	T	C	5: 64,954,130	K478R	probably benign	Het
Tmem115	G	T	9: 107,535,204	L242F	probably benign	Het
Tnfaip1	T	C	11: 78,525,468	D263G	probably benign	Het
Ubqln3	T	A	7: 104,142,677	I69F	probably damaging	Het
Vps52	T	C	17: 33,966,068	L712P	probably damaging	Het

Other mutations in Eny2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02667:Eny2	APN	15	44429588	missense	possibly damaging	0.84
IGL02749:Eny2	APN	15	44429635	missense	possibly damaging	0.85
R0479:Eny2	UTSW	15	44435604	splice site	probably null
R1681:Eny2	UTSW	15	44432478	missense	probably damaging	0.99
R6197:Eny2	UTSW	15	44429553	splice site	probably null
R6233:Eny2	UTSW	15	44433660	splice site	probably null
R7239:Eny2	UTSW	15	44433854	missense	probably benign	0.15

Posted On

2014-01-21