Mutagenetix > Incidental Mutation

Incidental Mutation 'R7999:Eppk1'

616292

Institutional Source

Beutler Lab

Gene Symbol

Eppk1

Ensembl Gene

ENSMUSG00000115388

Gene Name

epiplakin 1

Synonyms

EPIPL1, EPPK

MMRRC Submission

046039-MU

Accession Numbers

Essential gene?

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

Stock #

R7999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75973337-76004395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75993204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1226 (T1226A)

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: T1226A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	A	G	10: 20,841,580 (GRCm39)	E289G	probably benign	Het
Armc2	C	T	10: 41,887,954 (GRCm39)	E10K	possibly damaging	Het
Aspscr1	T	C	11: 120,569,348 (GRCm39)		probably null	Het
B3galnt1	A	G	3: 69,482,548 (GRCm39)	C238R	probably damaging	Het
Bak1	A	G	17: 27,240,280 (GRCm39)	L129P	probably damaging	Het
Bdp1	A	G	13: 100,195,404 (GRCm39)	F1272L	possibly damaging	Het
C2cd3	G	A	7: 100,109,096 (GRCm39)		probably null	Het
Cacna1b	A	T	2: 24,540,638 (GRCm39)	V1363E	probably damaging	Het
Capn11	T	C	17: 45,950,132 (GRCm39)	N344S	probably damaging	Het
Ces1f	A	T	8: 93,989,623 (GRCm39)	V431E	possibly damaging	Het
Cog3	G	T	14: 75,984,533 (GRCm39)	S94Y	possibly damaging	Het
Defa29	A	T	8: 21,816,859 (GRCm39)	S45T	probably benign	Het
Dnaaf9	C	A	2: 130,579,372 (GRCm39)	V753L	probably benign	Het
Dnah10	A	G	5: 124,802,322 (GRCm39)	D32G	probably benign	Het
Dnajc24	T	A	2: 105,811,365 (GRCm39)	N70I	probably damaging	Het
Duox2	C	T	2: 122,113,948 (GRCm39)	V1195I	probably benign	Het
Enam	A	T	5: 88,651,561 (GRCm39)	R1023S	probably benign	Het
Ephx4	A	T	5: 107,567,699 (GRCm39)	Q219L	probably damaging	Het
Fiz1	A	T	7: 5,011,997 (GRCm39)	S174T	probably benign	Het
Ggnbp1	C	T	17: 27,248,619 (GRCm39)	R63C	probably benign	Het
Gmcl1	G	T	6: 86,698,408 (GRCm39)	A163E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gsdmd	T	A	15: 75,735,295 (GRCm39)	I13N	probably damaging	Het
Gtpbp4	T	C	13: 9,037,322 (GRCm39)	D292G	probably damaging	Het
Hnf1a	A	T	5: 115,098,233 (GRCm39)	L123*	probably null	Het
Ints11	A	G	4: 155,971,413 (GRCm39)	D309G	probably benign	Het
Ints5	T	C	19: 8,874,407 (GRCm39)	S789P	probably benign	Het
Jakmip2	G	A	18: 43,696,398 (GRCm39)	A517V	probably benign	Het
Kat7	A	G	11: 95,174,935 (GRCm39)	Y270H	probably damaging	Het
Kmt2b	A	G	7: 30,276,199 (GRCm39)	S1767P	probably damaging	Het
Lonp2	A	G	8: 87,361,537 (GRCm39)	D238G	probably benign	Het
Lrfn3	A	G	7: 30,059,449 (GRCm39)	W259R	probably damaging	Het
Mmrn2	G	A	14: 34,119,879 (GRCm39)	D250N	probably benign	Het
Mre11a	A	T	9: 14,710,965 (GRCm39)	R49*	probably null	Het
Mug1	T	C	6: 121,857,855 (GRCm39)	L1116P	possibly damaging	Het
Mup9	A	G	4: 60,374,202 (GRCm39)	S234P	probably benign	Het
Nlrp9c	A	G	7: 26,084,914 (GRCm39)	F222L	possibly damaging	Het
Nr2e3	A	G	9: 59,856,282 (GRCm39)	V85A	probably damaging	Het
Or4a79	A	G	2: 89,552,344 (GRCm39)	I37T	probably benign	Het
Prl3d2	A	G	13: 27,307,949 (GRCm39)	T77A	probably benign	Het
Prpsap1	A	T	11: 116,381,042 (GRCm39)	M1K	probably null	Het
Prrc2b	C	T	2: 32,084,426 (GRCm39)	T297M	probably damaging	Het
Rasa3	A	G	8: 13,681,805 (GRCm39)	F48S	probably benign	Het
Rbm24	A	T	13: 46,572,507 (GRCm39)	M1L	possibly damaging	Het
Ren1	C	A	1: 133,282,604 (GRCm39)	T103K	probably damaging	Het
Rpf2	C	T	10: 40,099,880 (GRCm39)	G260S	probably damaging	Het
Sall4	C	T	2: 168,594,561 (GRCm39)	G862D	probably damaging	Het
Samd4	G	T	14: 47,301,704 (GRCm39)	R336L	probably damaging	Het
Shoc1	G	C	4: 59,094,162 (GRCm39)	F187L	probably benign	Het
Siglec1	T	C	2: 130,913,083 (GRCm39)	N1611S	probably benign	Het
Skil	A	G	3: 31,151,751 (GRCm39)	H91R	possibly damaging	Het
Snip1	T	C	4: 124,965,174 (GRCm39)	V193A	probably benign	Het
Sp2	A	T	11: 96,852,663 (GRCm39)	I87N	probably damaging	Het
Syna	T	C	5: 134,588,046 (GRCm39)	H301R	probably benign	Het
Tdg	A	G	10: 82,477,216 (GRCm39)	K89R	possibly damaging	Het
Tdrd7	G	A	4: 46,010,902 (GRCm39)		probably null	Het
Trak1	G	A	9: 121,289,491 (GRCm39)	R601H	probably damaging	Het
Triobp	T	C	15: 78,844,144 (GRCm39)	L120P	probably damaging	Het
Utp20	A	T	10: 88,606,250 (GRCm39)	N1697K	probably benign	Het
Uts2r	G	A	11: 121,051,495 (GRCm39)	V120M	possibly damaging	Het
Vmn2r59	A	G	7: 41,696,256 (GRCm39)	L162P	probably damaging	Het
Zbtb17	G	A	4: 141,189,134 (GRCm39)	R18Q	probably damaging	Het
Zfp551	A	T	7: 12,151,138 (GRCm39)	C90*	probably null	Het
Zfp605	T	A	5: 110,276,300 (GRCm39)	C473S	probably damaging	Het
Zfp764l1	T	A	7: 126,991,600 (GRCm39)	S117C	probably damaging	Het
Zfp975	A	T	7: 42,312,356 (GRCm39)	Y86N	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
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
R9058:Eppk1	UTSW	15	75,992,265 (GRCm39)	missense	probably benign	0.03
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'- ACAATCTCTGGTTGGTTAGCGG -3'
(R):5'- ACCTCGAGGATGTGAAGGTTG -3'

Sequencing Primer
(F):5'- AGGAAGCCAGATGCCACCTG -3'
(R):5'- GGGAAGATTTCTGTGCCACAGC -3'

Posted On

2020-01-23