Mutagenetix > Incidental Mutation

Incidental Mutation 'R1441:Eepd1'

161014

Institutional Source

Beutler Lab

Gene Symbol

Eepd1

Ensembl Gene

ENSMUSG00000036611

Gene Name

endonuclease/exonuclease/phosphatase family domain containing 1

Synonyms

2310005P05Rik

MMRRC Submission

039496-MU

Accession Numbers

Essential gene?

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

Stock #

R1441 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25392843-25515406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 25394499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 254 (M254I)

Ref Sequence

ENSEMBL: ENSMUSP00000047083 (fasta)

Gene Model

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

AlphaFold

Q3TGW2

Predicted Effect

probably benign
Transcript: ENSMUST00000040677
AA Change: M254I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: M254I

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

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	A	T	8: 114,481,194 (GRCm39)		probably null	Het
Ankrd16	T	C	2: 11,783,557 (GRCm39)	L53P	probably damaging	Het
Arsk	A	T	13: 76,223,083 (GRCm39)	N171K	probably benign	Het
Brwd1	A	C	16: 95,867,351 (GRCm39)	C161W	probably damaging	Het
Card9	T	C	2: 26,249,402 (GRCm39)	N53S	probably benign	Het
Ccdc13	A	T	9: 121,642,515 (GRCm39)	V403E	probably benign	Het
Ccdc83	T	A	7: 89,893,351 (GRCm39)	E135D	probably damaging	Het
Ccser1	C	T	6: 62,357,016 (GRCm39)	T818I	probably benign	Het
Cd44	T	A	2: 102,676,763 (GRCm39)	T301S	probably damaging	Het
Ephb4	C	T	5: 137,359,509 (GRCm39)	R360C	probably damaging	Het
Fam149a	G	T	8: 45,808,684 (GRCm39)	Q150K	probably damaging	Het
G6pc2	G	A	2: 69,051,198 (GRCm39)	C97Y	probably damaging	Het
Gcsam	T	A	16: 45,433,401 (GRCm39)	M15K	probably benign	Het
Impdh2	C	A	9: 108,441,975 (GRCm39)	T201K	probably benign	Het
Kdm2b	C	T	5: 123,070,943 (GRCm39)	E379K	probably benign	Het
Mcm3ap	T	C	10: 76,307,000 (GRCm39)	V371A	probably benign	Het
Mink1	T	A	11: 70,497,940 (GRCm39)	N514K	possibly damaging	Het
Mmp12	C	T	9: 7,354,787 (GRCm39)	P330L	probably damaging	Het
Mroh2a	A	G	1: 88,169,353 (GRCm39)	D676G	possibly damaging	Het
Myo1a	C	T	10: 127,555,148 (GRCm39)	P838L	probably benign	Het
Naip5	T	C	13: 100,356,225 (GRCm39)	H1130R	possibly damaging	Het
Ninl	C	A	2: 150,813,044 (GRCm39)	G204V	probably benign	Het
Or12k5	C	A	2: 36,895,131 (GRCm39)	R165L	possibly damaging	Het
Or2a54	T	C	6: 43,092,880 (GRCm39)	V68A	probably benign	Het
Or4k51	T	C	2: 111,585,347 (GRCm39)	F251S	probably damaging	Het
Or5ac20	G	A	16: 59,104,228 (GRCm39)	L211F	probably benign	Het
Or5an11	T	A	19: 12,245,750 (GRCm39)	L52*	probably null	Het
Or8c15	T	C	9: 38,120,777 (GRCm39)	C141R	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pip4p2	A	T	4: 14,892,477 (GRCm39)	I114L	possibly damaging	Het
Ptpn22	G	T	3: 103,781,563 (GRCm39)	W114L	probably damaging	Het
Rasa1	C	T	13: 85,400,540 (GRCm39)		probably null	Het
Rbks	C	T	5: 31,817,341 (GRCm39)	V143I	probably benign	Het
Rbm19	T	C	5: 120,269,241 (GRCm39)	F515L	probably damaging	Het
Ror1	A	G	4: 100,298,180 (GRCm39)	T518A	probably benign	Het
Rpusd4	C	A	9: 35,184,065 (GRCm39)	A240E	probably damaging	Het
Rufy3	T	C	5: 88,780,374 (GRCm39)	L374P	probably damaging	Het
Sf3a3	T	C	4: 124,618,935 (GRCm39)	S299P	probably damaging	Het
Slc7a12	T	G	3: 14,562,414 (GRCm39)	S264A	possibly damaging	Het
Tasor	T	A	14: 27,186,217 (GRCm39)	C805*	probably null	Het
Tm9sf1	T	C	14: 55,873,782 (GRCm39)	Y572C	probably damaging	Het
Tpcn2	G	A	7: 144,813,871 (GRCm39)	S475L	probably benign	Het
Trim17	A	G	11: 58,856,018 (GRCm39)	D25G	probably damaging	Het
Ttn	T	A	2: 76,572,121 (GRCm39)	K26257N	probably damaging	Het
Txndc11	C	A	16: 10,952,414 (GRCm39)		probably benign	Het
Utrn	A	G	10: 12,559,039 (GRCm39)	S1405P	probably damaging	Het
Vmn2r58	G	A	7: 41,486,864 (GRCm39)	T677I	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCAGCCTTCCTGGACAGAATAAGAC -3'
(R):5'- GCTTTCGGCAATCAGCTCTGGAAC -3'

Sequencing Primer
(F):5'- TAAGACACCAGGTGTTCGC -3'
(R):5'- GGAACACGGATTAAGCACTCTTTC -3'

Posted On

2014-03-14