Mutagenetix > Incidental Mutation

Incidental Mutation 'R7162:Eppk1'

557681

Institutional Source

Beutler Lab

Gene Symbol

Eppk1

Ensembl Gene

ENSMUSG00000115388

Gene Name

epiplakin 1

Synonyms

EPIPL1, EPPK

MMRRC Submission

045261-MU

Accession Numbers

Essential gene?

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

Stock #

R7162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75973337-76004395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75990809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 2024 (V2024A)

Ref Sequence

ENSEMBL: ENSMUSP00000154609 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226781
AA Change: V2024A

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (85/86)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akp3	C	T	1: 87,055,471 (GRCm39)	T506I	unknown	Het
Ank1	T	C	8: 23,622,370 (GRCm39)	W1640R	possibly damaging	Het
Atp2a2	A	G	5: 122,627,387 (GRCm39)	M126T	probably benign	Het
Bptf	A	T	11: 106,934,457 (GRCm39)		probably null	Het
Brat1	T	C	5: 140,696,004 (GRCm39)	V125A	probably benign	Het
Cables1	T	C	18: 12,059,423 (GRCm39)		probably null	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Cacna1b	A	C	2: 24,590,034 (GRCm39)	I558S	probably benign	Het
Ccdc166	A	G	15: 75,853,044 (GRCm39)	S308P	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cfhr2	A	G	1: 139,741,264 (GRCm39)	V237A	probably benign	Het
Clybl	C	A	14: 122,608,732 (GRCm39)	S108*	probably null	Het
Cubn	A	G	2: 13,347,309 (GRCm39)	Y2070H	probably damaging	Het
Cyp8b1	A	G	9: 121,744,777 (GRCm39)	F185S	probably damaging	Het
Dennd2c	T	A	3: 103,063,423 (GRCm39)	V620D	probably damaging	Het
Dis3l2	T	C	1: 86,971,752 (GRCm39)	F597L	possibly damaging	Het
Eif3f	G	A	7: 108,539,938 (GRCm39)	R282H	probably benign	Het
Ell	C	A	8: 71,031,559 (GRCm39)	R86S	possibly damaging	Het
Exoc6	T	C	19: 37,565,566 (GRCm39)	I214T	probably damaging	Het
Faim2	A	G	15: 99,419,048 (GRCm39)		probably null	Het
Gli1	A	G	10: 127,168,306 (GRCm39)	S516P	probably benign	Het
Gm18596	A	T	10: 77,578,034 (GRCm39)	S147T	unknown	Het
Gm19965	A	G	1: 116,750,095 (GRCm39)	Y592C	unknown	Het
Gng12	T	C	6: 66,994,285 (GRCm39)	S36P	unknown	Het
Gramd2b	G	A	18: 56,618,529 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,624,744 (GRCm39)	T1054S	probably benign	Het
Ifngr1	A	G	10: 19,485,101 (GRCm39)	T367A	probably benign	Het
Il21r	G	T	7: 125,231,483 (GRCm39)	V304L	probably benign	Het
Ino80d	G	A	1: 63,104,894 (GRCm39)	T394M	probably damaging	Het
Itfg2	C	T	6: 128,387,546 (GRCm39)	V380M	probably damaging	Het
Kcna5	C	T	6: 126,510,806 (GRCm39)	V441I	possibly damaging	Het
Kcp	T	A	6: 29,497,199 (GRCm39)		probably null	Het
Kdf1	C	T	4: 133,257,229 (GRCm39)	T375I	unknown	Het
Klk1b1	A	T	7: 43,618,671 (GRCm39)	D16V	probably damaging	Het
Krtap5-4	A	C	7: 141,857,335 (GRCm39)	T2P	unknown	Het
Lamtor1	A	G	7: 101,555,243 (GRCm39)	D13G	probably benign	Het
Lrp10	T	C	14: 54,703,163 (GRCm39)	V72A	possibly damaging	Het
Lrrc1	C	A	9: 77,339,472 (GRCm39)	A503S	probably benign	Het
Mylk	A	T	16: 34,742,899 (GRCm39)	D1137V	probably damaging	Het
Myo5b	C	G	18: 74,828,498 (GRCm39)	L717V	probably benign	Het
Myoz3	T	A	18: 60,709,485 (GRCm39)	R225S	probably damaging	Het
Myrf	A	G	19: 10,196,010 (GRCm39)	F335L	possibly damaging	Het
Nfib	A	C	4: 82,268,677 (GRCm39)	S292A	probably damaging	Het
Notch3	G	T	17: 32,365,423 (GRCm39)	H1096Q	probably damaging	Het
Nt5c1a	A	G	4: 123,107,898 (GRCm39)	R194G	probably benign	Het
Or10d3	A	G	9: 39,461,525 (GRCm39)	I214T	probably damaging	Het
Or5a1	A	G	19: 12,097,501 (GRCm39)	F192L	possibly damaging	Het
Parp4	A	G	14: 56,886,333 (GRCm39)	E1804G	unknown	Het
Pcdhac2	A	T	18: 37,278,840 (GRCm39)	I607L	probably benign	Het
Pcdhb5	A	G	18: 37,454,739 (GRCm39)	D373G	probably benign	Het
Pcf11	A	T	7: 92,313,221 (GRCm39)	V154E	probably damaging	Het
Pdia3	T	G	2: 121,260,002 (GRCm39)	D180E	probably benign	Het
Piezo2	C	A	18: 63,257,780 (GRCm39)	V313F	possibly damaging	Het
Pik3ap1	C	A	19: 41,309,965 (GRCm39)	A452S	probably benign	Het
Plb1	A	G	5: 32,507,007 (GRCm39)	K1194R	probably benign	Het
Pld3	A	C	7: 27,231,899 (GRCm39)	W431G	probably damaging	Het
Plekha3	T	C	2: 76,523,110 (GRCm39)		probably null	Het
Ppm1f	G	T	16: 16,732,057 (GRCm39)	R169L	probably damaging	Het
Ppp2r3d	A	G	9: 124,439,673 (GRCm38)	V60A		Het
Prop1	T	A	11: 50,842,881 (GRCm39)	D102V	probably damaging	Het
Rbm27	G	A	18: 42,447,092 (GRCm39)	G446R	unknown	Het
Rc3h2	C	A	2: 37,299,617 (GRCm39)	V138L	possibly damaging	Het
Rorc	G	A	3: 94,284,915 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sart3	A	G	5: 113,900,896 (GRCm39)	Y181H	probably damaging	Het
Sbpl	A	T	17: 24,172,439 (GRCm39)	M160K	possibly damaging	Het
Sh3gl3	A	G	7: 81,933,350 (GRCm39)	S238G	probably benign	Het
Slc22a30	A	G	19: 8,314,081 (GRCm39)		probably null	Het
Slc3a1	A	T	17: 85,371,442 (GRCm39)	R665*	probably null	Het
Stk32a	C	A	18: 43,430,649 (GRCm39)	Y186*	probably null	Het
Stxbp6	T	C	12: 44,949,663 (GRCm39)	N89D	probably benign	Het
Svep1	A	G	4: 58,070,262 (GRCm39)	F2508S	possibly damaging	Het
Tas1r1	A	G	4: 152,116,695 (GRCm39)	V313A	possibly damaging	Het
Tmem81	T	C	1: 132,435,355 (GRCm39)	Y54H	probably damaging	Het
Tmtc1	T	C	6: 148,172,985 (GRCm39)	N582S	probably damaging	Het
Top2b	T	C	14: 16,416,653 (GRCm38)	S1138P	probably benign	Het
Trim24	T	A	6: 37,942,456 (GRCm39)	N989K	possibly damaging	Het
Trim72	T	A	7: 127,606,821 (GRCm39)	M145K	probably benign	Het
Ttll9	T	A	2: 152,831,523 (GRCm39)	S154T	probably damaging	Het
Tusc3	T	C	8: 39,593,741 (GRCm39)	V286A	probably benign	Het
Vat1l	C	A	8: 114,963,518 (GRCm39)	H185N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,128 (GRCm39)	D187E	probably damaging	Het
Vmn2r87	T	C	10: 130,313,416 (GRCm39)	N450S	probably benign	Het
Wdr7	T	A	18: 63,857,210 (GRCm39)	D95E	possibly damaging	Het
Zfp937	C	T	2: 150,081,439 (GRCm39)	H490Y	probably benign	Het
Zfp974	A	T	7: 27,610,944 (GRCm39)	H260Q	possibly damaging	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
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
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'- TTTGTCCTTGACCACTGGGAAC -3'
(R):5'- TGTGTGGATGAGGCCATAGC -3'

Sequencing Primer
(F):5'- AGAGCCCAGCCTGACTTCTC -3'
(R):5'- TGAGGCCATAGCAGCTGG -3'

Posted On

2019-06-26