Mutagenetix > Incidental Mutation

Incidental Mutation 'R7690:Eppk1'

593358

Institutional Source

Beutler Lab

Gene Symbol

Eppk1

Ensembl Gene

ENSMUSG00000115388

Gene Name

epiplakin 1

Synonyms

EPIPL1, EPPK

MMRRC Submission

045754-MU

Accession Numbers

Essential gene?

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

Stock #

R7690 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75973337-76004395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75995946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 312 (T312S)

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: T312S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,353,313 (GRCm39)	T710S	probably benign	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Agap1	T	C	1: 89,770,793 (GRCm39)	S648P	probably benign	Het
Alox5	T	C	6: 116,392,417 (GRCm39)	H368R	probably damaging	Het
Ano2	T	C	6: 125,990,161 (GRCm39)	F761L	probably damaging	Het
Aox4	T	C	1: 58,303,076 (GRCm39)	V1169A	probably damaging	Het
Apbb1ip	T	A	2: 22,706,996 (GRCm39)	M11K	unknown	Het
Arl5a	G	T	2: 52,302,077 (GRCm39)	H112Q	possibly damaging	Het
Ccdc18	C	T	5: 108,376,528 (GRCm39)	T1323I	probably benign	Het
Cmtm5	G	A	14: 55,173,938 (GRCm39)		probably benign	Het
Cul2	T	C	18: 3,419,420 (GRCm39)	Y194H	probably benign	Het
Daglb	T	C	5: 143,479,938 (GRCm39)	I415T	possibly damaging	Het
Ddx28	A	G	8: 106,736,963 (GRCm39)	V365A	probably damaging	Het
Dnah6	T	C	6: 73,146,063 (GRCm39)		probably null	Het
Erich4	C	A	7: 25,314,710 (GRCm39)	V68L	possibly damaging	Het
Fam171a2	G	A	11: 102,328,660 (GRCm39)	P700S	probably benign	Het
Fat3	T	C	9: 15,909,477 (GRCm39)	N2175S	probably damaging	Het
Fcrl6	T	G	1: 172,426,223 (GRCm39)	R191S	probably damaging	Het
Fpgt	A	G	3: 154,793,467 (GRCm39)	S187P	probably damaging	Het
Gapvd1	T	G	2: 34,619,134 (GRCm39)	T80P	possibly damaging	Het
Gclm	A	G	3: 122,039,705 (GRCm39)	N24S	probably damaging	Het
Gdf15	A	G	8: 71,083,997 (GRCm39)	I89T	possibly damaging	Het
Gpn2	A	G	4: 133,318,693 (GRCm39)	E306G	probably damaging	Het
Iars2	A	T	1: 185,053,194 (GRCm39)	L359Q	probably damaging	Het
Kbtbd4	T	G	2: 90,736,240 (GRCm39)	C84G	possibly damaging	Het
Manea	A	G	4: 26,327,910 (GRCm39)	V377A	probably benign	Het
Map4	C	T	9: 109,828,861 (GRCm39)	T82I	probably damaging	Het
Mocos	C	T	18: 24,797,082 (GRCm39)	H81Y	probably damaging	Het
Mtx1	T	A	3: 89,120,088 (GRCm39)	T87S		Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Myom2	A	T	8: 15,161,717 (GRCm39)		probably null	Het
Mzt1	C	T	14: 99,278,024 (GRCm39)	C48Y	probably damaging	Het
Nlrp9b	C	A	7: 19,758,295 (GRCm39)	P511T	probably benign	Het
Noc2l	A	G	4: 156,322,088 (GRCm39)	E135G	probably benign	Het
Nova1	G	A	12: 46,767,549 (GRCm39)	P124L	unknown	Het
Pax8	T	A	2: 24,331,682 (GRCm39)	T134S	probably benign	Het
Pde4a	T	A	9: 21,077,300 (GRCm39)	L26Q	probably damaging	Het
Pde6b	G	A	5: 108,567,384 (GRCm39)	E254K	probably damaging	Het
Pdlim7	A	G	13: 55,656,744 (GRCm39)	I70T	probably damaging	Het
Pinx1	T	A	14: 64,101,660 (GRCm39)		probably null	Het
Pomt2	C	A	12: 87,177,141 (GRCm39)	R352L	probably damaging	Het
Rapgef5	G	A	12: 117,685,105 (GRCm39)	V519I	possibly damaging	Het
Rnps1	A	G	17: 24,637,168 (GRCm39)	E16G	unknown	Het
Slc4a5	T	C	6: 83,262,854 (GRCm39)	F782S	probably damaging	Het
Snap91	A	G	9: 86,707,031 (GRCm39)	V253A	possibly damaging	Het
Syce3	T	C	15: 89,281,544 (GRCm39)	M32V	possibly damaging	Het
Tcaf3	C	A	6: 42,574,069 (GRCm39)	V48L	probably damaging	Het
Tenm4	T	C	7: 96,512,740 (GRCm39)	V1366A	probably benign	Het
Tnxb	G	A	17: 34,908,494 (GRCm39)	M1382I	probably benign	Het
Tnxb	G	A	17: 34,908,501 (GRCm39)	G1385R	probably damaging	Het
Top3a	G	T	11: 60,647,206 (GRCm39)	L238I	probably damaging	Het
Trim9	A	T	12: 70,295,117 (GRCm39)	N742K	probably benign	Het
Trp63	T	A	16: 25,695,483 (GRCm39)	Y482N	unknown	Het
Ttc23	T	G	7: 67,319,918 (GRCm39)	F192V	possibly damaging	Het
Uck1	A	G	2: 32,148,184 (GRCm39)	V180A	probably benign	Het
Vwa5b1	G	A	4: 138,318,244 (GRCm39)	T541I	probably damaging	Het
Zfp456	G	T	13: 67,514,913 (GRCm39)	H264Q	probably damaging	Het
Zfpm2	T	G	15: 40,818,162 (GRCm39)	V165G	possibly damaging	Het
Zup1	C	T	10: 33,806,151 (GRCm39)		probably null	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
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'- TGTTCTGCAACCAGGAGCTG -3'
(R):5'- TGCCCCTATTGCCCTTAAAGAC -3'

Sequencing Primer
(F):5'- ACCAGGAGCTGCTCATGAAGTTC -3'
(R):5'- CAGTGCGTCAATGCTGCTG -3'

Posted On

2019-11-12