Mutagenetix > Incidental Mutation

Incidental Mutation 'R4245:Eepd1'

320387

Institutional Source

Beutler Lab

Gene Symbol

Eepd1

Ensembl Gene

ENSMUSG00000036611

Gene Name

endonuclease/exonuclease/phosphatase family domain containing 1

Synonyms

2310005P05Rik

MMRRC Submission

041061-MU

Accession Numbers

Essential gene?

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

Stock #

R4245 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25392843-25515406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25505920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 460 (I460T)

Ref Sequence

ENSEMBL: ENSMUSP00000047083 (fasta)

Gene Model

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

AlphaFold

Q3TGW2

Predicted Effect

probably benign
Transcript: ENSMUST00000040677
AA Change: I460T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: I460T

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

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,733,203 (GRCm39)		noncoding transcript	Het
Acacb	A	T	5: 114,368,845 (GRCm39)	T1688S	probably damaging	Het
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
C8a	A	G	4: 104,733,543 (GRCm39)	V4A	probably benign	Het
Ccdc171	A	G	4: 83,473,045 (GRCm39)	D158G	probably damaging	Het
Ccdc184	T	A	15: 98,066,750 (GRCm39)		probably null	Het
Cdc23	T	C	18: 34,770,100 (GRCm39)		probably benign	Het
Dnah5	A	G	15: 28,219,335 (GRCm39)	N51S	probably benign	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Fen1	T	A	19: 10,177,731 (GRCm39)	I238F	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gm5493	A	G	17: 22,966,199 (GRCm39)	E28G	probably benign	Het
Jakmip2	A	G	18: 43,710,501 (GRCm39)	V234A	probably benign	Het
Map3k6	T	C	4: 132,979,258 (GRCm39)	Y1204H	possibly damaging	Het
Mpeg1	C	A	19: 12,440,272 (GRCm39)	Q577K	probably damaging	Het
Mthfd1	T	C	12: 76,348,047 (GRCm39)	S564P	probably damaging	Het
Mtmr11	T	A	3: 96,075,393 (GRCm39)	C358S	probably damaging	Het
Muc4	T	C	16: 32,753,802 (GRCm38)	I1226T	probably benign	Het
Myo18b	G	A	5: 112,840,261 (GRCm39)	H2511Y	possibly damaging	Het
Ndufs6	A	T	13: 73,468,512 (GRCm39)	D62E	probably damaging	Het
Or5af2	T	C	11: 58,708,604 (GRCm39)	Y257H	probably damaging	Het
Or7e178	T	C	9: 20,225,629 (GRCm39)	I196V	possibly damaging	Het
Pcdhga1	T	A	18: 37,796,605 (GRCm39)	D536E	probably damaging	Het
Phactr3	G	A	2: 177,924,982 (GRCm39)		probably null	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Ptk2	C	T	15: 73,103,825 (GRCm39)	G749D	probably benign	Het
Rab3il1	A	T	19: 10,007,518 (GRCm39)	D222V	probably damaging	Het
Radil	T	C	5: 142,529,546 (GRCm39)	D50G	probably damaging	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Scn7a	T	C	2: 66,572,345 (GRCm39)	I209V	probably benign	Het
Sf3a1	C	T	11: 4,117,774 (GRCm39)	R179C	probably damaging	Het
Spata31e2	T	C	1: 26,721,161 (GRCm39)	N1340D	probably benign	Het
Styxl2	T	C	1: 165,928,685 (GRCm39)	E309G	probably damaging	Het
Tg	T	C	15: 66,568,318 (GRCm39)	V1335A	possibly damaging	Het
Thnsl1	A	G	2: 21,217,059 (GRCm39)	E271G	probably benign	Het
Vill	T	A	9: 118,900,359 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,624 (GRCm39)	D341G	possibly damaging	Het
Wdr59	T	C	8: 112,216,996 (GRCm39)	N272D	possibly damaging	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zfp985	A	G	4: 147,667,396 (GRCm39)	K88R	probably damaging	Het
Zscan29	C	T	2: 120,995,275 (GRCm39)		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
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
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'- TGGTTACACAAGAAAGGGCC -3'
(R):5'- TTACAGGTCTTCAGCCCAACAC -3'

Sequencing Primer
(F):5'- GCCTAAGGCCCTAAATCCTGAGTG -3'
(R):5'- CAACACTGAACAGAGACAGCAGG -3'

Posted On

2015-06-12