Mutagenetix > Incidental Mutation

Incidental Mutation 'R0970:Eepd1'

84024

Institutional Source

Beutler Lab

Gene Symbol

Eepd1

Ensembl Gene

ENSMUSG00000036611

Gene Name

endonuclease/exonuclease/phosphatase family domain containing 1

Synonyms

2310005P05Rik

MMRRC Submission

039099-MU

Accession Numbers

Essential gene?

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

Stock #

R0970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25392843-25515406 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25514722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 510 (R510G)

Ref Sequence

ENSEMBL: ENSMUSP00000047083 (fasta)

Gene Model

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

AlphaFold

Q3TGW2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040677
AA Change: R510G

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

SMART Domains

Protein: ENSMUSP00000047083
Gene: ENSMUSG00000036611
AA Change: R510G

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

0.7166

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,661,364 (GRCm39)	S307P	probably damaging	Het
Amdhd2	C	T	17: 24,375,544 (GRCm39)		probably null	Het
Ano1	A	T	7: 144,149,308 (GRCm39)	M851K	probably benign	Het
Arid3b	A	T	9: 57,740,834 (GRCm39)		probably benign	Het
Arpp21	A	G	9: 111,965,516 (GRCm39)		probably benign	Het
Atxn7l3	C	G	11: 102,183,261 (GRCm39)		probably benign	Het
C87436	G	A	6: 86,424,310 (GRCm39)	V281M	probably damaging	Het
Cep70	A	G	9: 99,157,652 (GRCm39)	K184E	possibly damaging	Het
Clcn7	T	C	17: 25,370,208 (GRCm39)		probably null	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col4a2	A	G	8: 11,465,438 (GRCm39)	T383A	probably benign	Het
Commd5	A	T	15: 76,784,885 (GRCm39)		probably null	Het
Cyp4b1	G	A	4: 115,492,833 (GRCm39)	A292V	probably benign	Het
Dthd1	T	C	5: 63,045,324 (GRCm39)	L696P	probably damaging	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eno3	T	C	11: 70,551,628 (GRCm39)	I196T	probably damaging	Het
Eva1a	A	G	6: 82,069,084 (GRCm39)	E137G	probably damaging	Het
Gapvd1	T	A	2: 34,620,625 (GRCm39)		probably null	Het
Ggnbp2	T	C	11: 84,753,138 (GRCm39)	M34V	possibly damaging	Het
Gpihbp1	G	A	15: 75,469,795 (GRCm39)	S170N	probably benign	Het
Kdm3b	T	C	18: 34,942,092 (GRCm39)	S528P	probably damaging	Het
Lrrk2	A	T	15: 91,613,372 (GRCm39)	Q832L	probably benign	Het
Nav2	C	A	7: 49,233,901 (GRCm39)	P1861Q	probably damaging	Het
Or52n5	A	C	7: 104,588,284 (GRCm39)	M184L	probably benign	Het
Piezo1	A	T	8: 123,213,549 (GRCm39)	I1782N	possibly damaging	Het
Pikfyve	T	A	1: 65,304,983 (GRCm39)	S1757T	probably damaging	Het
Plxnb1	G	T	9: 108,932,331 (GRCm39)	W523C	probably damaging	Het
Pmm2	G	T	16: 8,460,640 (GRCm39)	L31F	probably damaging	Het
Ppm1f	T	C	16: 16,721,457 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,189,287 (GRCm39)	Y34C	probably damaging	Het
Slc10a2	C	G	8: 5,155,115 (GRCm39)	E23D	probably benign	Het
Smc5	T	A	19: 23,216,362 (GRCm39)	I489F	probably damaging	Het
Snx2	T	C	18: 53,343,762 (GRCm39)		probably benign	Het
Stradb	C	T	1: 59,016,219 (GRCm39)	L3F	possibly damaging	Het
Tnxb	C	G	17: 34,917,917 (GRCm39)	P2277A	possibly damaging	Het
Tpm2	T	A	4: 43,515,968 (GRCm39)	I270F	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Urb1	A	T	16: 90,566,335 (GRCm39)	L1484Q	possibly damaging	Het
Xylt1	G	A	7: 117,233,963 (GRCm39)	V497I	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
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

Predicted Primers

PCR Primer
(F):5'- CAAGGACTAGGTCTTCCTGCTTGC -3'
(R):5'- CTTGGCTCTAAGGTGACTCCATTGC -3'

Sequencing Primer
(F):5'- CTGGATAAAAAGCCTGGTCTCTG -3'
(R):5'- AAGGTGACTCCATTGCCATTC -3'

Posted On

2013-11-08