Mutagenetix > Incidental Mutation

Incidental Mutation 'R1069:Epp13'

86127

Institutional Source

Beutler Lab

Gene Symbol

Epp13

Ensembl Gene

ENSMUSG00000053367

Gene Name

epididymal protein 13

Synonyms

MMRRC Submission

039155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6252710-6282066 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 6255922 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113155 (fasta)

Gene Model

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

AlphaFold

E9Q7F5

Predicted Effect

probably null
Transcript: ENSMUST00000121024

SMART Domains

Protein: ENSMUSP00000113155
Gene: ENSMUSG00000053367

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128903

Predicted Effect

probably benign
Transcript: ENSMUST00000155248

Meta Mutation Damage Score

0.8638

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610203C20Rik	G	A	9: 41,590,298	R151H	possibly damaging	Het
4921524L21Rik	A	G	18: 6,624,037	N106S	probably benign	Het
Akr1c21	C	A	13: 4,575,334		probably benign	Het
Alpk2	G	A	18: 65,305,014	R1570C	probably benign	Het
Atp8b3	G	A	10: 80,531,018	R249C	probably damaging	Het
Cacnb4	C	A	2: 52,455,611	R252I	probably damaging	Het
Cars	T	C	7: 143,570,107	T480A	probably benign	Het
Ccnf	A	T	17: 24,223,997	C745*	probably null	Het
Ccr8	A	G	9: 120,094,217	I133V	probably benign	Het
Cndp1	G	A	18: 84,634,652		probably benign	Het
Dgkq	T	C	5: 108,656,037		probably benign	Het
Ecd	A	G	14: 20,333,436	C312R	probably damaging	Het
Gstm1	T	C	3: 108,012,748	S226G	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hacd4	T	A	4: 88,437,502	I49L	probably damaging	Het
Hid1	T	C	11: 115,356,765	N269S	probably damaging	Het
Ifitm3	A	T	7: 141,009,900		probably benign	Het
Kctd9	C	T	14: 67,729,420		probably benign	Het
Kif20b	T	C	19: 34,950,851	L1131P	probably damaging	Het
Kif2c	T	C	4: 117,178,153	T33A	probably damaging	Het
Lipc	T	C	9: 70,823,537	T38A	probably benign	Het
Lrguk	A	C	6: 34,048,883	I205L	possibly damaging	Het
Ncapg	T	A	5: 45,675,930		probably benign	Het
Ptprd	A	G	4: 75,998,487		probably benign	Het
Ptprd	T	A	4: 76,100,633	K635*	probably null	Het
Sap130	G	A	18: 31,711,629	V898I	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Svep1	C	T	4: 58,070,239	G2516R	probably damaging	Het
Tas2r131	C	T	6: 132,957,825	R7K	probably benign	Het
Tfpi	A	G	2: 84,453,792		probably benign	Het
Trim80	T	C	11: 115,448,083	C580R	probably damaging	Het
Ttn	T	A	2: 76,969,929	I312F	unknown	Het

Other mutations in Epp13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02347:Epp13	APN	7	6269884	missense	possibly damaging	0.83
IGL02869:Epp13	APN	7	6269899	splice site	probably benign
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

Predicted Primers

PCR Primer
(F):5'- ACTTTTCCCCAGTGAACTAAGCAGATG -3'
(R):5'- CCTGATCCTCAAGCCAGGATTTTATAGC -3'

Sequencing Primer
(F):5'- gatggatagatggatggatggg -3'
(R):5'- TATAGCAGATTGAAGCTCTACCC -3'

Posted On

2013-11-18