Mutagenetix > Incidental Mutation

Incidental Mutation 'R8373:Epn3'

646550

Institutional Source

Beutler Lab

Gene Symbol

Epn3

Ensembl Gene

ENSMUSG00000010080

Gene Name

epsin 3

Synonyms

2310022G12Rik

MMRRC Submission

067741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8373 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94380425-94390800 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94383762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 296 (D296A)

Ref Sequence

ENSEMBL: ENSMUSP00000121390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127305]

AlphaFold

Q91W69

Predicted Effect

probably damaging
Transcript: ENSMUST00000127305
AA Change: D296A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080
AA Change: D296A

Domain	Start	End	E-Value	Type
ENTH	18	144	1.3e-62	SMART
low complexity region	167	190	N/A	INTRINSIC
UIM	202	221	2.11e-2	SMART
UIM	229	248	5.27e-3	SMART
low complexity region	269	285	N/A	INTRINSIC
low complexity region	554	572	N/A	INTRINSIC
low complexity region	578	588	N/A	INTRINSIC
low complexity region	599	618	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	T	C	10: 14,343,078 (GRCm39)	T290A	probably benign	Het
Aff4	C	T	11: 53,291,094 (GRCm39)	Q685*	probably null	Het
Ankmy1	A	G	1: 92,823,816 (GRCm39)	M150T	probably damaging	Het
Armc1	T	C	3: 19,203,731 (GRCm39)	Y65C	probably damaging	Het
Armc8	A	G	9: 99,409,152 (GRCm39)	V222A	probably benign	Het
Bcar1	A	T	8: 112,442,370 (GRCm39)	Y228*	probably null	Het
Cct2	T	C	10: 116,896,729 (GRCm39)	D158G	possibly damaging	Het
Cul1	T	A	6: 47,491,997 (GRCm39)	C426S	possibly damaging	Het
Deup1	G	T	9: 15,503,671 (GRCm39)	L297M	possibly damaging	Het
Dpp10	A	G	1: 123,781,958 (GRCm39)	S74P	possibly damaging	Het
Epha4	A	G	1: 77,483,716 (GRCm39)	Y98H	possibly damaging	Het
Eri2	A	C	7: 119,371,820 (GRCm39)	I252S	probably benign	Het
Gp9	C	T	6: 87,755,994 (GRCm39)	T3I	probably benign	Het
H2-Q5	T	A	17: 35,613,432 (GRCm39)	V55E		Het
Kif3c	G	T	12: 3,416,089 (GRCm39)	V37L	probably benign	Het
Lct	A	T	1: 128,231,577 (GRCm39)	N757K	probably damaging	Het
Lhx8	A	C	3: 154,030,295 (GRCm39)	N112K	probably damaging	Het
Loxl3	T	A	6: 83,025,872 (GRCm39)	S373R	possibly damaging	Het
Mettl4	G	A	17: 95,041,077 (GRCm39)	T359I	probably damaging	Het
Mpp7	A	G	18: 7,444,096 (GRCm39)	S109P	probably damaging	Het
Nckap5	A	G	1: 125,954,032 (GRCm39)	V840A	probably benign	Het
Ncoa4	T	A	14: 31,898,893 (GRCm39)	L571Q	probably damaging	Het
Or13a18	A	T	7: 140,190,208 (GRCm39)	Y35F	possibly damaging	Het
Or2f1	T	C	6: 42,721,280 (GRCm39)	F103S	probably damaging	Het
Phgdh	G	A	3: 98,228,561 (GRCm39)	T204I	probably damaging	Het
Pla2g4d	C	T	2: 120,107,980 (GRCm39)	V310M	probably null	Het
Prss3b	T	G	6: 41,008,622 (GRCm39)	T231P	possibly damaging	Het
Psmd12	C	T	11: 107,388,450 (GRCm39)	P421L	probably damaging	Het
Ptch1	A	G	13: 63,688,982 (GRCm39)	Y432H	probably damaging	Het
Rapgef1	G	A	2: 29,600,243 (GRCm39)	G655S	probably damaging	Het
Rilpl2	C	A	5: 124,616,097 (GRCm39)	A18S	probably damaging	Het
Srsf7	T	C	17: 80,512,815 (GRCm39)	R88G	probably benign	Het
St6galnac1	T	C	11: 116,660,059 (GRCm39)	K85E	possibly damaging	Het
Trip12	A	T	1: 84,773,488 (GRCm39)	S49R	probably damaging	Het
Vinac1	T	A	2: 128,880,091 (GRCm39)	I612F		Het
Wdr48	A	G	9: 119,734,560 (GRCm39)	T160A	probably damaging	Het
Zfp704	G	A	3: 9,674,502 (GRCm39)	T93M	unknown	Het

Other mutations in Epn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02017:Epn3	APN	11	94,385,852 (GRCm39)	missense	probably benign	0.04
IGL03172:Epn3	APN	11	94,382,456 (GRCm39)	missense	possibly damaging	0.92
PIT4362001:Epn3	UTSW	11	94,387,349 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Epn3	UTSW	11	94,386,956 (GRCm39)	missense	probably damaging	1.00
R4893:Epn3	UTSW	11	94,382,822 (GRCm39)	missense	probably damaging	0.99
R5173:Epn3	UTSW	11	94,386,923 (GRCm39)	missense	probably damaging	0.97
R6526:Epn3	UTSW	11	94,385,758 (GRCm39)	critical splice donor site	probably null
R6882:Epn3	UTSW	11	94,382,186 (GRCm39)	missense	probably benign	0.00
R7120:Epn3	UTSW	11	94,383,254 (GRCm39)	missense	probably benign	0.41
R7326:Epn3	UTSW	11	94,384,606 (GRCm39)	missense	probably benign	0.02
R7861:Epn3	UTSW	11	94,387,100 (GRCm39)	missense	probably damaging	1.00
R8507:Epn3	UTSW	11	94,384,602 (GRCm39)	missense	probably damaging	0.99
R8742:Epn3	UTSW	11	94,386,921 (GRCm39)	missense	probably damaging	1.00
R8757:Epn3	UTSW	11	94,386,848 (GRCm39)	missense	possibly damaging	0.94
R8759:Epn3	UTSW	11	94,386,848 (GRCm39)	missense	possibly damaging	0.94
R8774:Epn3	UTSW	11	94,383,220 (GRCm39)	missense	possibly damaging	0.63
R8774-TAIL:Epn3	UTSW	11	94,383,220 (GRCm39)	missense	possibly damaging	0.63
R8983:Epn3	UTSW	11	94,386,914 (GRCm39)	missense	probably damaging	1.00
R9040:Epn3	UTSW	11	94,382,749 (GRCm39)	missense	possibly damaging	0.65
R9651:Epn3	UTSW	11	94,383,687 (GRCm39)	critical splice donor site	probably null
T0975:Epn3	UTSW	11	94,382,733 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCTCAGTTACAGAGAGGAGG -3'
(R):5'- TTCACTTGGGTACTAGCTAGGG -3'

Sequencing Primer
(F):5'- TTACAGAGAGGAGGTATTTTGCCAAC -3'
(R):5'- ACCTACCTCACAGGGATGTTATG -3'

Posted On

2020-09-02