Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02347:Epp13'

289304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Epp13

Ensembl Gene

ENSMUSG00000053367

Gene Name

epididymal protein 13

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL02347

Quality Score

Status

Chromosome

Chromosomal Location

6252710-6282066 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6269884 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 79 (I79M)

Ref Sequence

ENSEMBL: ENSMUSP00000113155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121024]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121024
AA Change: I79M

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113155
Gene: ENSMUSG00000053367
AA Change: I79M

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128903
AA Change: I48M

Predicted Effect

unknown
Transcript: ENSMUST00000155248
AA Change: I20M

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,165,530	Y178N	probably damaging	Het
9830107B12Rik	T	A	17: 48,145,664	K35*	probably null	Het
Adad2	G	T	8: 119,616,669	G546V	probably damaging	Het
Bccip	A	G	7: 133,709,376	K7E	probably benign	Het
C8b	G	A	4: 104,786,954	E273K	probably benign	Het
Car12	T	A	9: 66,764,347	V352D	possibly damaging	Het
Cyp2d11	G	A	15: 82,390,480	R299C	probably benign	Het
Dnah10	A	C	5: 124,833,423		probably null	Het
Egf	A	T	3: 129,678,377	N1199K	probably benign	Het
Ehbp1l1	A	G	19: 5,719,572	W568R	possibly damaging	Het
Emc3	A	G	6: 113,520,572	M106T	possibly damaging	Het
Fam13b	T	C	18: 34,454,704	K514E	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Frg2f1	A	C	4: 119,530,732	L190R	probably damaging	Het
Frmpd1	A	G	4: 45,270,023		probably null	Het
Glis3	A	G	19: 28,531,883	F234L	probably benign	Het
Gm2035	T	C	12: 87,919,589	D90G	probably damaging	Het
Grap2	T	C	15: 80,646,356		probably benign	Het
H2-M10.2	T	A	17: 36,285,613	E113D	probably benign	Het
Itgb6	T	C	2: 60,611,412	T685A	probably benign	Het
Mrpl19	A	T	6: 81,962,011	M270K	probably damaging	Het
Msantd4	G	T	9: 4,384,734		probably benign	Het
Msr1	G	T	8: 39,632,737	T34K	probably damaging	Het
Npc1	C	T	18: 12,199,634	V780M	probably benign	Het
Nsun6	A	G	2: 15,030,020		probably benign	Het
Nt5c2	A	G	19: 46,924,256		probably benign	Het
Nucb2	A	C	7: 116,535,878	Q340P	probably benign	Het
Olfr168	A	G	16: 19,530,779	L47P	probably damaging	Het
Olfr401	C	T	11: 74,121,571	T94I	probably benign	Het
Osgin1	A	G	8: 119,445,538	E357G	probably benign	Het
Pabpc6	C	T	17: 9,669,064	R186K	probably benign	Het
Pex1	A	G	5: 3,603,350	K83R	probably damaging	Het
Ppid	A	G	3: 79,595,219	I82V	probably benign	Het
Pygl	C	T	12: 70,201,892	G318S	probably benign	Het
Rcn1	A	T	2: 105,399,126	V27E	probably benign	Het
Rnaseh1	A	T	12: 28,657,630		probably benign	Het
Rnf148	A	G	6: 23,654,730	V89A	probably benign	Het
Siglecf	G	A	7: 43,351,721	V38I	possibly damaging	Het
Slc13a5	T	C	11: 72,258,954		probably null	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Sos2	A	T	12: 69,596,746	D953E	probably benign	Het
Strbp	A	C	2: 37,645,648	V16G	probably benign	Het
Sycp1	A	T	3: 102,893,547	M567K	probably benign	Het
Tedc2	A	C	17: 24,220,610	V19G	probably damaging	Het
Tjp1	A	G	7: 65,301,064		probably null	Het
Ttn	A	T	2: 76,709,220	V26147E	probably damaging	Het
Vmn1r86	A	G	7: 13,102,647	S51P	probably damaging	Het
Vmn2r83	A	G	10: 79,480,233	T488A	possibly damaging	Het
Zfp541	A	G	7: 16,083,465	Y945C	probably damaging	Het

Other mutations in Epp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02869:Epp13	APN	7	6269899	splice site	probably benign
R1069:Epp13	UTSW	7	6255922	critical splice acceptor site	probably null
R1771:Epp13	UTSW	7	6277542	critical splice donor site	probably null
R4663:Epp13	UTSW	7	6258625	missense	possibly damaging	0.49
R4790:Epp13	UTSW	7	6266318	nonsense	probably null
R5011:Epp13	UTSW	7	6266333	intron	probably benign
R5013:Epp13	UTSW	7	6266333	intron	probably benign
R5388:Epp13	UTSW	7	6266347	critical splice donor site	probably null
R6576:Epp13	UTSW	7	6277542	critical splice donor site	probably benign
R7224:Epp13	UTSW	7	6268802	missense	probably benign	0.09
R7665:Epp13	UTSW	7	6269892	critical splice donor site	probably null

Posted On

2015-04-16