Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01383:Eepd1'

78943

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 #

IGL01383

Quality Score

Status

Chromosome

Chromosomal Location

25392843-25515406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25393778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 14 (D14G)

Ref Sequence

ENSEMBL: ENSMUSP00000047083 (fasta)

Gene Model

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

AlphaFold

Q3TGW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040677
AA Change: D14G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: D14G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156237

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555G01Rik	C	A	14: 5,051,570 (GRCm38)		probably null	Het
Abca9	A	C	11: 110,004,119 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,333,464 (GRCm39)	M227K	probably benign	Het
Asb5	T	A	8: 55,003,544 (GRCm39)	L22H	probably damaging	Het
Atrx	T	C	X: 104,845,681 (GRCm39)	D2309G	probably damaging	Het
Cand1	T	A	10: 119,044,072 (GRCm39)	T1074S	probably damaging	Het
Cep97	T	C	16: 55,731,970 (GRCm39)	E534G	probably damaging	Het
Cftr	C	A	6: 18,226,040 (GRCm39)	N329K	probably benign	Het
Clec7a	T	C	6: 129,449,603 (GRCm39)	T16A	probably damaging	Het
Col1a1	G	A	11: 94,836,351 (GRCm39)	R674H	probably damaging	Het
Csf2rb2	T	C	15: 78,181,243 (GRCm39)	S50G	possibly damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Grin1	C	A	2: 25,186,979 (GRCm39)	R694L	possibly damaging	Het
Gtf3c1	A	G	7: 125,298,672 (GRCm39)	I151T	probably damaging	Het
Havcr2	T	C	11: 46,360,375 (GRCm39)	S152P	probably damaging	Het
Hvcn1	T	C	5: 122,375,766 (GRCm39)	V15A	probably damaging	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Map3k10	C	T	7: 27,357,424 (GRCm39)	V785M	probably benign	Het
Mis18bp1	T	C	12: 65,195,763 (GRCm39)	N667S	probably benign	Het
Mup3	A	C	4: 62,004,196 (GRCm39)	Y106D	probably damaging	Het
Mypn	G	T	10: 62,971,576 (GRCm39)	N821K	probably damaging	Het
Odad1	T	C	7: 45,589,124 (GRCm39)	S179P	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or52b4	A	G	7: 102,184,140 (GRCm39)	Y62C	probably benign	Het
Or5ac25	A	T	16: 59,182,316 (GRCm39)	N88K	probably benign	Het
Or5i1	A	G	2: 87,613,217 (GRCm39)	D111G	possibly damaging	Het
Pcdhb10	A	T	18: 37,546,328 (GRCm39)	H468L	probably benign	Het
Pramel27	T	G	4: 143,573,102 (GRCm39)		probably benign	Het
Prp2	C	A	6: 132,576,841 (GRCm39)	P43T	unknown	Het
Psg26	A	G	7: 18,214,179 (GRCm39)	V161A	possibly damaging	Het
Rab17	T	G	1: 90,887,815 (GRCm39)	D115A	probably damaging	Het
Rrp1b	T	C	17: 32,277,552 (GRCm39)	F611L	probably damaging	Het
Skor1	T	A	9: 63,053,838 (GRCm39)	T44S	probably benign	Het
Spaca5	T	C	X: 20,934,725 (GRCm39)		probably benign	Het
Tatdn3	G	A	1: 190,787,578 (GRCm39)		probably benign	Het
Tbk1	T	C	10: 121,412,184 (GRCm39)	D118G	probably damaging	Het
Tnfsf13b	T	C	8: 10,081,528 (GRCm39)	F230S	probably damaging	Het
Tnrc6c	T	C	11: 117,605,083 (GRCm39)	S73P	probably benign	Het
Vmn2r109	A	G	17: 20,761,383 (GRCm39)	V658A	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,575 (GRCm39)	L770F	probably damaging	Het
Wwp2	T	A	8: 108,259,923 (GRCm39)		probably null	Het

Other mutations in Eepd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02188:Eepd1	APN	9	25,493,188 (GRCm39)	missense	probably benign	0.01
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

2013-11-05