Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02188:Eepd1'

283750

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eepd1

Ensembl Gene

ENSMUSG00000036611

Gene Name

endonuclease/exonuclease/phosphatase family domain containing 1

Synonyms

2310005P05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

IGL02188

Quality Score

Status

Chromosome

Chromosomal Location

25392843-25515406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25493188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 311 (F311L)

Ref Sequence

ENSEMBL: ENSMUSP00000047083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040677]

AlphaFold

Q3TGW2

Predicted Effect

probably benign
Transcript: ENSMUST00000040677
AA Change: F311L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: F311L

Domain	Start	End	E-Value	Type
HhH1	48	67	1.45e-1	SMART
HhH1	78	97	2.55e2	SMART
low complexity region	124	135	N/A	INTRINSIC
HhH1	145	164	6.66e-1	SMART
Pfam:Exo_endo_phos	264	535	6.6e-8	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,093,421 (GRCm39)	N56S	probably benign	Het
Asb18	A	G	1: 89,924,021 (GRCm39)	C81R	probably benign	Het
Ccl25	A	C	8: 4,398,552 (GRCm39)		probably benign	Het
Cdh13	A	G	8: 119,578,500 (GRCm39)	T176A	probably benign	Het
Cnrip1	A	G	11: 17,028,398 (GRCm39)		probably null	Het
Dnmt1	A	T	9: 20,853,034 (GRCm39)	C62*	probably null	Het
Extl3	A	G	14: 65,313,154 (GRCm39)	L676P	probably damaging	Het
F13a1	A	G	13: 37,090,035 (GRCm39)		probably benign	Het
Galnt12	C	T	4: 47,122,521 (GRCm39)	R267W	probably damaging	Het
Gm5150	T	A	3: 16,017,826 (GRCm39)	K148N	possibly damaging	Het
Haus8	G	T	8: 71,710,059 (GRCm39)	A51E	probably damaging	Het
Hyal5	T	C	6: 24,877,035 (GRCm39)	Y303H	probably damaging	Het
Itga5	C	T	15: 103,256,144 (GRCm39)	R936H	probably benign	Het
Itgb4	A	G	11: 115,894,213 (GRCm39)	N1282S	probably benign	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Matn4	C	T	2: 164,242,786 (GRCm39)	R104H	probably benign	Het
Mideas	T	C	12: 84,209,100 (GRCm39)	I667M	probably benign	Het
Myg1	T	C	15: 102,245,876 (GRCm39)	I238T	probably benign	Het
Myo7a	C	T	7: 97,740,234 (GRCm39)	A598T	probably damaging	Het
Nbea	T	A	3: 55,891,258 (GRCm39)	I1604L	probably benign	Het
Nfx1	G	A	4: 40,993,827 (GRCm39)	G547R	probably damaging	Het
Or5b113	A	T	19: 13,342,396 (GRCm39)	M135L	probably benign	Het
Or5b113	A	T	19: 13,342,643 (GRCm39)	Y217F	probably damaging	Het
Pelp1	T	A	11: 70,300,718 (GRCm39)	I41F	unknown	Het
Pla2g2f	T	C	4: 138,479,518 (GRCm39)		probably benign	Het
Rab19	T	A	6: 39,360,968 (GRCm39)	S39T	probably benign	Het
Samd8	T	C	14: 21,833,866 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,326,020 (GRCm39)	D1219G	probably damaging	Het
Slc2a4	C	T	11: 69,837,156 (GRCm39)	M1I	probably null	Het
Slc44a1	T	C	4: 53,541,361 (GRCm39)	V273A	probably benign	Het
Spata31f1e	T	A	4: 42,791,994 (GRCm39)		probably null	Het
Svep1	T	C	4: 58,068,382 (GRCm39)	T3135A	possibly damaging	Het
Tnnc1	T	C	14: 30,932,617 (GRCm39)	L100P	possibly damaging	Het
Ubr3	C	T	2: 69,789,955 (GRCm39)	R870*	probably null	Het
Usp28	T	C	9: 48,935,309 (GRCm39)	S87P	probably benign	Het
Xylt1	T	A	7: 117,233,964 (GRCm39)	V497E	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Eepd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Eepd1	APN	9	25,393,778 (GRCm39)	missense	probably damaging	1.00
IGL02110:Eepd1	APN	9	25,514,698 (GRCm39)	splice site	probably benign
IGL02113:Eepd1	APN	9	25,394,009 (GRCm39)	missense	probably damaging	1.00
IGL02930:Eepd1	APN	9	25,394,536 (GRCm39)	missense	probably damaging	0.96
IGL03293:Eepd1	APN	9	25,514,708 (GRCm39)	missense	possibly damaging	0.90
IGL03046:Eepd1	UTSW	9	25,393,981 (GRCm39)	missense	probably damaging	1.00
R0970:Eepd1	UTSW	9	25,514,722 (GRCm39)	missense	probably damaging	1.00
R1037:Eepd1	UTSW	9	25,498,079 (GRCm39)	missense	possibly damaging	0.94
R1441:Eepd1	UTSW	9	25,394,499 (GRCm39)	missense	probably benign
R1835:Eepd1	UTSW	9	25,394,164 (GRCm39)	missense	possibly damaging	0.84
R3912:Eepd1	UTSW	9	25,394,600 (GRCm39)	missense	probably damaging	1.00
R4245:Eepd1	UTSW	9	25,505,920 (GRCm39)	missense	probably benign	0.00
R4704:Eepd1	UTSW	9	25,394,122 (GRCm39)	missense	probably benign
R4838:Eepd1	UTSW	9	25,500,756 (GRCm39)	missense	possibly damaging	0.56
R5153:Eepd1	UTSW	9	25,498,049 (GRCm39)	missense	probably benign	0.37
R5634:Eepd1	UTSW	9	25,514,849 (GRCm39)	missense	probably benign	0.12
R5994:Eepd1	UTSW	9	25,514,749 (GRCm39)	missense	probably damaging	1.00
R6141:Eepd1	UTSW	9	25,394,280 (GRCm39)	missense	probably benign	0.00
R6709:Eepd1	UTSW	9	25,394,164 (GRCm39)	missense	probably benign	0.26
R7063:Eepd1	UTSW	9	25,394,332 (GRCm39)	missense	possibly damaging	0.93
R8697:Eepd1	UTSW	9	25,497,998 (GRCm39)	missense	probably benign
R8903:Eepd1	UTSW	9	25,394,518 (GRCm39)	missense	probably benign

Posted On

2015-04-16