Mutagenetix > Incidental Mutation

Incidental Mutation 'R6999:Eppk1'

544416

Institutional Source

Beutler Lab

Gene Symbol

Eppk1

Ensembl Gene

ENSMUSG00000115388

Gene Name

epiplakin 1

Synonyms

EPIPL1, EPPK

MMRRC Submission

045104-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R6999 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75973337-76004395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75993423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1153 (W1153R)

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: W1153R

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

Coding Region Coverage

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

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	G	A	1: 71,356,321 (GRCm39)	Q629*	probably null	Het
Acss3	C	A	10: 106,889,362 (GRCm39)	G153C	probably damaging	Het
Alpk2	A	G	18: 65,437,584 (GRCm39)	S1270P	probably damaging	Het
Ankrd10	A	T	8: 11,669,106 (GRCm39)	L215Q	probably damaging	Het
Ankrd6	A	G	4: 32,823,459 (GRCm39)	S188P	probably benign	Het
Brinp2	A	G	1: 158,078,875 (GRCm39)	M316T	probably benign	Het
Bsn	A	G	9: 107,990,632 (GRCm39)	S1707P	probably benign	Het
C2cd4b	C	T	9: 67,667,571 (GRCm39)	A189V	probably benign	Het
Camk2b	C	T	11: 5,922,321 (GRCm39)	R556H	probably damaging	Het
Cfap126	A	G	1: 170,953,733 (GRCm39)	D101G	possibly damaging	Het
Chd5	A	T	4: 152,458,891 (GRCm39)	I1085F	probably damaging	Het
Chp2	A	G	7: 121,821,092 (GRCm39)	E151G	probably damaging	Het
Chrd	A	G	16: 20,554,402 (GRCm39)	T370A	probably benign	Het
Chrnb2	C	T	3: 89,668,622 (GRCm39)	R231H	possibly damaging	Het
Crisp4	T	A	1: 18,207,259 (GRCm39)	I10F	possibly damaging	Het
Csnka2ip	T	A	16: 64,298,933 (GRCm39)	H477L	unknown	Het
Ctu1	T	A	7: 43,324,662 (GRCm39)	F34I	probably damaging	Het
Dctn1	T	A	6: 83,168,263 (GRCm39)	S407T	possibly damaging	Het
Ech1	T	C	7: 28,529,689 (GRCm39)	F191L	probably benign	Het
Enpp3	T	C	10: 24,684,064 (GRCm39)	D60G	probably damaging	Het
Epha6	T	C	16: 60,245,533 (GRCm39)	Y222C	possibly damaging	Het
Fbxo4	C	T	15: 4,007,437 (GRCm39)	D76N	probably damaging	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Gemin5	C	T	11: 58,015,947 (GRCm39)	R1352Q	probably benign	Het
Gm9639	T	C	10: 77,630,525 (GRCm39)		probably benign	Het
Gm973	C	A	1: 59,673,251 (GRCm39)	Q160K	unknown	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid2	A	T	6: 64,053,893 (GRCm39)	Q364L	possibly damaging	Het
Kcnn2	T	G	18: 45,725,444 (GRCm39)	S313R	probably damaging	Het
Kera	T	C	10: 97,444,814 (GRCm39)	Y58H	probably damaging	Het
Meiosin	A	G	7: 18,836,300 (GRCm39)		probably benign	Het
Mtfr2	T	C	10: 20,229,862 (GRCm39)	L105P	probably benign	Het
Myom2	A	G	8: 15,134,531 (GRCm39)	T445A	probably benign	Het
Or2o1	A	G	11: 49,051,239 (GRCm39)	R133G	possibly damaging	Het
Or8b1c	T	A	9: 38,384,535 (GRCm39)	L164Q	probably damaging	Het
Pcdha12	T	C	18: 37,153,329 (GRCm39)	L16P	probably benign	Het
Pcdhb10	T	C	18: 37,546,171 (GRCm39)	Y416H	probably damaging	Het
Pde8b	T	C	13: 95,223,342 (GRCm39)	Y304C	possibly damaging	Het
Pkd1	T	C	17: 24,797,475 (GRCm39)	I2605T	possibly damaging	Het
Pnn	T	C	12: 59,117,085 (GRCm39)		probably null	Het
Ppa1	G	A	10: 61,496,796 (GRCm39)	G95S	probably damaging	Het
Rapgef4	G	T	2: 72,069,469 (GRCm39)	A730S	probably damaging	Het
Scap	A	G	9: 110,213,715 (GRCm39)	Y1226C	probably damaging	Het
Scn2a	A	T	2: 65,512,453 (GRCm39)	T197S	probably benign	Het
Slc2a6	GCTTCC	GC	2: 26,916,047 (GRCm39)		probably null	Het
Slc8a3	T	C	12: 81,361,529 (GRCm39)	Y430C	probably benign	Het
Tead3	T	C	17: 28,560,506 (GRCm39)	T33A	probably benign	Het
Tep1	T	A	14: 51,088,162 (GRCm39)	I792F	possibly damaging	Het
Trpm2	A	T	10: 77,771,725 (GRCm39)	I638N	probably damaging	Het
Tuba1c	A	G	15: 98,935,193 (GRCm39)	D218G	probably benign	Het
Tubgcp4	T	A	2: 121,022,778 (GRCm39)	W495R	probably damaging	Het
Tut1	T	C	19: 8,943,382 (GRCm39)	L823P	probably damaging	Het
Ube2q2l	T	C	6: 136,378,272 (GRCm39)	N186S	probably benign	Het
Umodl1	C	T	17: 31,218,097 (GRCm39)	A1228V	probably damaging	Het
Vmn1r235	T	A	17: 21,482,127 (GRCm39)	F151I	probably benign	Het
Vmn2r45	T	A	7: 8,486,219 (GRCm39)	K356N	probably benign	Het
Zfp318	T	A	17: 46,710,969 (GRCm39)	N897K	probably 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
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
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'- CAGCATCTCGTAGCCAAGTG -3'
(R):5'- TGTCCAGATCTCCTGAGACC -3'

Sequencing Primer
(F):5'- AAGTGGCAGGGACCTCG -3'
(R):5'- GACCTTTCCCACACCCGATGG -3'

Posted On

2019-05-13