Mutagenetix > Incidental Mutation

Incidental Mutation 'R9058:Eppk1'

688842

Institutional Source

Beutler Lab

Gene Symbol

Eppk1

Ensembl Gene

ENSMUSG00000115388

Gene Name

epiplakin 1

Synonyms

EPIPL1, EPPK

MMRRC Submission

068884-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R9058 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75973337-76004395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75992265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 1539 (G1539R)

Ref Sequence

ENSEMBL: ENSMUSP00000154609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000226781]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000226781
AA Change: G1539R

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for a null allele exhbit normal skin morphology. Mice homozygous for a reporter knock-in allele exhibit enhanced wound healing associated with increased keratinocyte migration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	T	C	11: 116,080,268 (GRCm39)	T135A	possibly damaging	Het
Adrm1b	A	T	3: 92,335,559 (GRCm39)	M283K	probably benign	Het
Aldh8a1	T	C	10: 21,258,344 (GRCm39)	I147T	possibly damaging	Het
Alkbh5	T	C	11: 60,444,548 (GRCm39)	L288S	probably benign	Het
Bpifb5	A	G	2: 154,080,817 (GRCm39)	D478G	possibly damaging	Het
Cacna1s	A	T	1: 135,998,436 (GRCm39)	K155*	probably null	Het
Ccser1	T	C	6: 61,350,976 (GRCm39)	L511P	probably damaging	Het
Cebpz	A	T	17: 79,243,227 (GRCm39)	N142K	probably benign	Het
Cfap299	A	T	5: 98,932,400 (GRCm39)	D200V	probably damaging	Het
Clip1	G	T	5: 123,752,645 (GRCm39)	R379S		Het
Cpne8	T	A	15: 90,381,276 (GRCm39)	I513F	probably damaging	Het
Ctnnb1	T	A	9: 120,780,476 (GRCm39)	C213*	probably null	Het
Dnah7b	A	G	1: 46,282,575 (GRCm39)	K2903E	probably damaging	Het
Dnah7c	G	T	1: 46,805,816 (GRCm39)	G3422W	probably damaging	Het
Dnhd1	T	A	7: 105,333,270 (GRCm39)	H247Q	probably benign	Het
Efna2	A	G	10: 80,022,720 (GRCm39)	Y88C	probably damaging	Het
Exoc3l2	A	T	7: 19,203,821 (GRCm39)	K138*	probably null	Het
Fam47e	A	G	5: 92,719,367 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,283,948 (GRCm39)	M923K	probably damaging	Het
Gbe1	A	G	16: 70,324,059 (GRCm39)	E558G	possibly damaging	Het
Gm5431	T	C	11: 48,786,049 (GRCm39)	T109A	probably benign	Het
Gm9508	G	A	10: 77,532,620 (GRCm39)	P150S	unknown	Het
Grep1	T	C	17: 23,935,016 (GRCm39)	N63S	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hrob	T	C	11: 102,146,386 (GRCm39)	S221P	probably benign	Het
Hsfy2	A	T	1: 56,676,504 (GRCm39)	V11D	probably benign	Het
Kif13a	T	C	13: 46,944,941 (GRCm39)	N887D	probably damaging	Het
Kirrel1	A	G	3: 86,992,442 (GRCm39)	V541A	probably benign	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lamc3	G	A	2: 31,798,653 (GRCm39)	R453H	probably benign	Het
Mideas	A	G	12: 84,220,642 (GRCm39)	M104T	probably damaging	Het
Muc6	G	C	7: 141,218,154 (GRCm39)	T2173S	possibly damaging	Het
Neb	T	C	2: 52,075,341 (GRCm39)	N208S	probably benign	Het
Nlrc5	A	T	8: 95,238,938 (GRCm39)	T1459S	possibly damaging	Het
Npy1r	T	C	8: 67,156,600 (GRCm39)	S7P	probably benign	Het
Nr4a2	T	C	2: 57,002,255 (GRCm39)	N66S	probably benign	Het
Nr5a1	T	C	2: 38,584,034 (GRCm39)	T462A	probably damaging	Het
Ntng2	A	G	2: 29,094,202 (GRCm39)	C390R	probably benign	Het
Or4p23	A	C	2: 88,577,030 (GRCm39)	D67E		Het
Or5b119	G	A	19: 13,456,956 (GRCm39)	T202I	possibly damaging	Het
Or7g12	T	A	9: 18,900,222 (GRCm39)	*313R	probably null	Het
Pecam1	G	T	11: 106,590,675 (GRCm39)	P33Q	probably damaging	Het
Phc2	T	A	4: 128,616,769 (GRCm39)	F347L	probably benign	Het
Phldb2	T	A	16: 45,592,604 (GRCm39)	H938L	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Prkch	G	T	12: 73,822,308 (GRCm39)		probably null	Het
Prr5	A	G	15: 84,641,241 (GRCm39)	N169S	probably benign	Het
Puf60	C	T	15: 75,942,425 (GRCm39)	D483N	probably benign	Het
Puf60	C	T	15: 75,944,382 (GRCm39)	M133I	probably benign	Het
Rmnd1	T	C	10: 4,363,398 (GRCm39)	H284R	probably benign	Het
Scaper	T	C	9: 55,722,762 (GRCm39)	E682G	probably damaging	Het
Sds	A	G	5: 120,618,779 (GRCm39)	E111G	possibly damaging	Het
Sec23b	T	A	2: 144,424,010 (GRCm39)	I553N	probably damaging	Het
Serpina1a	A	T	12: 103,820,001 (GRCm39)	I415K	possibly damaging	Het
Slc14a1	T	A	18: 78,145,785 (GRCm39)		probably null	Het
Socs1	G	A	16: 10,602,692 (GRCm39)	P15L	probably benign	Het
Sv2b	A	T	7: 74,789,822 (GRCm39)		probably null	Het
Sync	T	C	4: 129,187,217 (GRCm39)	I83T	probably damaging	Het
Syt16	T	A	12: 74,282,019 (GRCm39)	L381Q	probably damaging	Het
Tbx20	T	C	9: 24,681,019 (GRCm39)	R158G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tmem19	C	A	10: 115,198,031 (GRCm39)		probably benign	Het
Trpa1	A	C	1: 14,959,618 (GRCm39)	N689K	probably damaging	Het
Ube3b	C	A	5: 114,553,300 (GRCm39)	H891N	probably benign	Het
Vmn2r19	T	A	6: 123,313,021 (GRCm39)	M697K	possibly damaging	Het
Zfp142	A	T	1: 74,608,955 (GRCm39)	C1613*	probably null	Het
Zfp7	T	A	15: 76,764,981 (GRCm39)	M1K	probably null	Het
Zfp936	A	T	7: 42,839,196 (GRCm39)	Q221L	probably benign	Het

Other mutations in Eppk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT1430001:Eppk1	UTSW	15	76,105,236 (GRCm38)	missense	probably benign	0.00
PIT4494001:Eppk1	UTSW	15	75,990,272 (GRCm39)	missense	probably benign	0.03
R6898:Eppk1	UTSW	15	75,996,126 (GRCm39)	missense	probably benign	0.07
R6981:Eppk1	UTSW	15	75,995,237 (GRCm39)	missense	probably benign	0.03
R6999:Eppk1	UTSW	15	75,993,423 (GRCm39)	missense	probably benign	0.03
R7162:Eppk1	UTSW	15	75,990,809 (GRCm39)	missense	possibly damaging	0.83
R7169:Eppk1	UTSW	15	75,990,114 (GRCm39)	missense	probably benign	0.05
R7352:Eppk1	UTSW	15	75,990,618 (GRCm39)	missense	probably benign	0.01
R7528:Eppk1	UTSW	15	76,004,308 (GRCm39)	start gained	probably benign
R7547:Eppk1	UTSW	15	75,991,740 (GRCm39)	missense	probably benign	0.17
R7575:Eppk1	UTSW	15	75,995,442 (GRCm39)	missense	not run
R7591:Eppk1	UTSW	15	75,991,797 (GRCm39)	missense	possibly damaging	0.87
R7648:Eppk1	UTSW	15	75,994,871 (GRCm39)	missense	probably benign	0.16
R7690:Eppk1	UTSW	15	75,995,946 (GRCm39)	missense	probably benign	0.03
R7716:Eppk1	UTSW	15	75,991,703 (GRCm39)	nonsense	probably null
R7999:Eppk1	UTSW	15	75,993,335 (GRCm39)	missense	probably benign	0.07
R7999:Eppk1	UTSW	15	75,993,204 (GRCm39)	missense	probably benign	0.03
R8145:Eppk1	UTSW	15	75,990,900 (GRCm39)	missense	possibly damaging	0.55
R8336:Eppk1	UTSW	15	75,992,152 (GRCm39)	nonsense	probably null
R8363:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8371:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8414:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8415:Eppk1	UTSW	15	75,995,831 (GRCm39)	missense	probably benign	0.15
R8526:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8528:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8539:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8542:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8543:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8544:Eppk1	UTSW	15	75,994,319 (GRCm39)	missense	probably benign	0.07
R8547:Eppk1	UTSW	15	75,993,249 (GRCm39)	missense	probably benign	0.07
R8695:Eppk1	UTSW	15	75,994,598 (GRCm39)	missense	probably benign	0.03
R8769:Eppk1	UTSW	15	75,994,895 (GRCm39)	missense	probably benign	0.03
R8840:Eppk1	UTSW	15	75,994,094 (GRCm39)	missense	probably benign	0.03
R8998:Eppk1	UTSW	15	75,980,765 (GRCm39)	missense	probably damaging	0.97
R9019:Eppk1	UTSW	15	75,992,472 (GRCm39)	missense	probably benign	0.03
R9025:Eppk1	UTSW	15	75,990,503 (GRCm39)	missense	possibly damaging	0.68
R9182:Eppk1	UTSW	15	75,995,453 (GRCm39)	missense	probably benign	0.16
R9236:Eppk1	UTSW	15	75,990,510 (GRCm39)	nonsense	probably null
R9327:Eppk1	UTSW	15	75,993,755 (GRCm39)	missense	probably benign	0.03
R9461:Eppk1	UTSW	15	75,994,668 (GRCm39)	missense	probably benign	0.01
R9716:Eppk1	UTSW	15	75,994,526 (GRCm39)	missense	probably benign	0.33
R9789:Eppk1	UTSW	15	75,993,219 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TGGCCTCAGAATGTGCCTTC -3'
(R):5'- ACAGTGTGTCACTCTGGGAC -3'

Sequencing Primer
(F):5'- AAGGCCTCTGGGATACTCATC -3'
(R):5'- GGACCTGCTACACTCTGAGTATG -3'

Posted On

2021-11-19