Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4449001:Evpl'

555742

Institutional Source

Beutler Lab

Gene Symbol

Evpl

Ensembl Gene

ENSMUSG00000034282

Gene Name

envoplakin

Synonyms

210kDa protein

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4449001 (G1)

Quality Score

83.0076

Status

Not validated

Chromosome

Chromosomal Location

116111385-116128903 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 116124225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 198 (T198M)

Ref Sequence

ENSEMBL: ENSMUSP00000037850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037007]

AlphaFold

Q9D952

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037007
AA Change: T198M

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: T198M

Domain	Start	End	E-Value	Type
low complexity region	3	30	N/A	INTRINSIC
Blast:SPEC	44	140	1e-16	BLAST
Blast:SPEC	140	226	4e-46	BLAST
SPEC	229	330	2.21e-6	SMART
Blast:SPEC	336	500	7e-68	BLAST
low complexity region	508	525	N/A	INTRINSIC
Blast:SPEC	527	632	4e-41	BLAST
Blast:SPEC	635	746	5e-48	BLAST
Blast:SPEC	753	867	7e-49	BLAST
low complexity region	868	881	N/A	INTRINSIC
low complexity region	933	950	N/A	INTRINSIC
internal_repeat_2	1011	1030	6.54e-6	PROSPERO
internal_repeat_3	1012	1032	1.94e-5	PROSPERO
coiled coil region	1035	1077	N/A	INTRINSIC
low complexity region	1131	1144	N/A	INTRINSIC
low complexity region	1149	1164	N/A	INTRINSIC
PLEC	1186	1227	1.48e2	SMART
low complexity region	1228	1242	N/A	INTRINSIC
coiled coil region	1262	1366	N/A	INTRINSIC
low complexity region	1398	1414	N/A	INTRINSIC
internal_repeat_2	1457	1476	6.54e-6	PROSPERO
internal_repeat_3	1516	1536	1.94e-5	PROSPERO
low complexity region	1595	1617	N/A	INTRINSIC
PLEC	1679	1714	9.19e-4	SMART
PLEC	1729	1764	4.53e1	SMART
low complexity region	1788	1800	N/A	INTRINSIC
PLEC	1819	1856	1.41e-4	SMART
PLEC	1857	1894	5.4e-10	SMART
PLEC	1895	1932	2.7e-10	SMART
PLEC	1933	1970	1.21e-3	SMART
PLEC	1971	2008	1.16e0	SMART

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plakin family of proteins that forms a component of desmosomes and the epidermal cornified envelope. This gene is located in the tylosis oesophageal cancer locus on chromosome 17q25, and its deletion is associated with both familial and sporadic forms of oesophageal squamous cell carcinoma. Patients suffering from the autoimmune mucocutaneous disorder, paraneoplastic pemphigus, develop antibodies against the encoded protein. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted deletion of this gene are viable and fertile. Surprisingly, cornified envelope assembly is not inhibited and adult homozygotes show no obvious pathological phenotype in skin or other epithelia, despite a slight delay in barrier acquisition during embryonic development. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(3)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asf1b	A	G	8: 84,694,611 (GRCm39)	N125S	probably benign	Het
BC048671	T	A	6: 90,282,145 (GRCm39)	L101I	probably damaging	Het
Camta1	A	G	4: 151,216,043 (GRCm39)	L959P	probably benign	Het
Cfap91	T	C	16: 38,148,720 (GRCm39)	E236G	probably damaging	Het
Cfh	C	A	1: 140,040,303 (GRCm39)	V598F	probably damaging	Het
Cyp2j7	G	T	4: 96,103,575 (GRCm39)	T320K	probably damaging	Het
Ddr1	A	G	17: 35,998,141 (GRCm39)	I468T	possibly damaging	Het
Dhx15	A	G	5: 52,318,300 (GRCm39)	V510A	probably damaging	Het
Dpp4	T	A	2: 62,186,988 (GRCm39)	K507N	probably benign	Het
Gabbr1	G	A	17: 37,367,242 (GRCm39)	V373I	probably damaging	Het
Gak	A	T	5: 108,728,791 (GRCm39)	S1049T	probably benign	Het
Gipr	C	T	7: 18,894,543 (GRCm39)	R253H	probably benign	Het
Gm3685	T	A	14: 7,043,960 (GRCm38)	M73L	probably benign	Het
Gm5168	C	T	X: 25,994,840 (GRCm39)	R129Q	probably null	Het
Kcnh1	T	A	1: 192,100,992 (GRCm39)	V555D	probably damaging	Het
Kif26b	T	C	1: 178,745,651 (GRCm39)	S1916P	probably damaging	Het
Lingo4	T	C	3: 94,309,239 (GRCm39)	V59A	probably benign	Het
Mroh8	T	A	2: 157,067,454 (GRCm39)	Q635L	probably damaging	Het
Msh6	T	A	17: 88,293,616 (GRCm39)	D790E	probably damaging	Het
Nrxn1	A	T	17: 90,905,007 (GRCm39)	W809R	probably damaging	Het
Or5ac19	C	A	16: 59,089,493 (GRCm39)	C179F	probably damaging	Het
Polr3d	T	C	14: 70,676,903 (GRCm39)	H397R	probably benign	Het
Pwp2	G	A	10: 78,014,304 (GRCm39)	T432I	probably benign	Het
Rad21	G	C	15: 51,836,639 (GRCm39)	F177L	probably benign	Het
Rnf182	G	A	13: 43,822,153 (GRCm39)	V235I	probably benign	Het
Scn11a	C	T	9: 119,599,014 (GRCm39)	C1172Y	probably damaging	Het
Sh2b3	A	G	5: 121,966,742 (GRCm39)	L124P	possibly damaging	Het
Six2	T	C	17: 85,992,906 (GRCm39)	N199S	probably benign	Het
Slc5a3	A	G	16: 91,874,702 (GRCm39)	D253G	probably benign	Het
Synm	A	G	7: 67,385,025 (GRCm39)	M879T	probably benign	Het
Tasp1	A	G	2: 139,752,455 (GRCm39)	I328T	possibly damaging	Het
Tbrg4	T	C	11: 6,569,689 (GRCm39)	Q309R	probably damaging	Het
Tmtc2	A	G	10: 105,139,465 (GRCm39)	L687P	probably damaging	Het
Trgc3	A	T	13: 19,447,532 (GRCm39)	R162*	probably null	Het
Tufm	T	C	7: 126,086,621 (GRCm39)	M1T	probably null	Het
Vmn2r116	A	C	17: 23,607,921 (GRCm39)	L496F	probably benign	Het
Vmn2r75	C	T	7: 85,814,791 (GRCm39)	C234Y	probably damaging	Het
Wars2	G	T	3: 99,112,595 (GRCm39)	V162L	possibly damaging	Het
Zc3h11a	A	T	1: 133,552,349 (GRCm39)	V586D	probably benign	Het
Zdhhc5	A	T	2: 84,520,571 (GRCm39)	N535K	probably damaging	Het
Zfp52	T	C	17: 21,777,478 (GRCm39)	Y38H	probably damaging	Het
Zfp729b	T	C	13: 67,739,542 (GRCm39)	M908V	probably benign	Het
Zfp772	T	C	7: 7,207,350 (GRCm39)	I114V	probably benign	Het

Other mutations in Evpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Evpl	APN	11	116,125,331 (GRCm39)	missense	probably benign	0.01
IGL00896:Evpl	APN	11	116,113,410 (GRCm39)	nonsense	probably null
IGL00941:Evpl	APN	11	116,118,727 (GRCm39)	missense	probably benign	0.06
IGL01443:Evpl	APN	11	116,113,280 (GRCm39)	missense	probably damaging	1.00
IGL01523:Evpl	APN	11	116,124,270 (GRCm39)	missense	probably damaging	1.00
IGL01957:Evpl	APN	11	116,114,048 (GRCm39)	missense	probably damaging	1.00
IGL02124:Evpl	APN	11	116,117,841 (GRCm39)	missense	probably benign	0.01
IGL02334:Evpl	APN	11	116,121,850 (GRCm39)	nonsense	probably null
IGL02457:Evpl	APN	11	116,120,939 (GRCm39)	missense	possibly damaging	0.87
IGL02502:Evpl	APN	11	116,113,544 (GRCm39)	missense	probably damaging	1.00
IGL02536:Evpl	APN	11	116,112,035 (GRCm39)	missense	probably damaging	1.00
IGL02948:Evpl	APN	11	116,112,648 (GRCm39)	missense	probably damaging	1.00
IGL03183:Evpl	APN	11	116,112,438 (GRCm39)	missense	probably damaging	0.98
IGL03405:Evpl	APN	11	116,118,753 (GRCm39)	missense	possibly damaging	0.89
A4554:Evpl	UTSW	11	116,111,660 (GRCm39)	missense	probably damaging	1.00
BB005:Evpl	UTSW	11	116,113,359 (GRCm39)	missense	possibly damaging	0.63
BB015:Evpl	UTSW	11	116,113,359 (GRCm39)	missense	possibly damaging	0.63
R0082:Evpl	UTSW	11	116,125,829 (GRCm39)	missense	probably damaging	1.00
R0108:Evpl	UTSW	11	116,111,702 (GRCm39)	missense	probably damaging	1.00
R0514:Evpl	UTSW	11	116,114,117 (GRCm39)	missense	probably damaging	0.99
R0581:Evpl	UTSW	11	116,120,316 (GRCm39)	missense	probably benign	0.02
R0727:Evpl	UTSW	11	116,123,311 (GRCm39)	missense	probably damaging	1.00
R0791:Evpl	UTSW	11	116,118,549 (GRCm39)	missense	probably damaging	1.00
R0792:Evpl	UTSW	11	116,118,549 (GRCm39)	missense	probably damaging	1.00
R1079:Evpl	UTSW	11	116,120,894 (GRCm39)	missense	possibly damaging	0.48
R1514:Evpl	UTSW	11	116,114,661 (GRCm39)	missense	probably benign
R1699:Evpl	UTSW	11	116,118,414 (GRCm39)	missense	probably damaging	1.00
R1717:Evpl	UTSW	11	116,116,318 (GRCm39)	missense	probably benign	0.06
R1775:Evpl	UTSW	11	116,114,486 (GRCm39)	missense	possibly damaging	0.66
R1886:Evpl	UTSW	11	116,118,402 (GRCm39)	missense	probably damaging	0.97
R1903:Evpl	UTSW	11	116,117,854 (GRCm39)	missense	probably damaging	1.00
R2081:Evpl	UTSW	11	116,125,092 (GRCm39)	missense	probably damaging	1.00
R2137:Evpl	UTSW	11	116,112,665 (GRCm39)	missense	probably damaging	0.99
R2571:Evpl	UTSW	11	116,128,795 (GRCm39)	missense	unknown
R3081:Evpl	UTSW	11	116,111,678 (GRCm39)	missense	probably damaging	1.00
R4097:Evpl	UTSW	11	116,114,003 (GRCm39)	missense	possibly damaging	0.89
R4541:Evpl	UTSW	11	116,123,470 (GRCm39)	missense	probably benign	0.01
R4562:Evpl	UTSW	11	116,124,225 (GRCm39)	missense	possibly damaging	0.87
R4703:Evpl	UTSW	11	116,113,331 (GRCm39)	missense	probably damaging	0.98
R4947:Evpl	UTSW	11	116,114,201 (GRCm39)	missense	possibly damaging	0.88
R5243:Evpl	UTSW	11	116,113,795 (GRCm39)	missense	probably damaging	1.00
R5325:Evpl	UTSW	11	116,112,191 (GRCm39)	missense	probably damaging	1.00
R5416:Evpl	UTSW	11	116,125,085 (GRCm39)	missense	probably benign	0.13
R5580:Evpl	UTSW	11	116,125,058 (GRCm39)	missense	probably benign	0.14
R5873:Evpl	UTSW	11	116,125,258 (GRCm39)	missense	probably damaging	1.00
R6298:Evpl	UTSW	11	116,121,748 (GRCm39)	missense	probably damaging	1.00
R6438:Evpl	UTSW	11	116,120,927 (GRCm39)	missense	probably benign	0.00
R6742:Evpl	UTSW	11	116,113,640 (GRCm39)	missense	possibly damaging	0.80
R6753:Evpl	UTSW	11	116,128,732 (GRCm39)	missense	possibly damaging	0.95
R6764:Evpl	UTSW	11	116,113,770 (GRCm39)	missense	probably damaging	0.99
R6846:Evpl	UTSW	11	116,114,633 (GRCm39)	missense	probably damaging	1.00
R7278:Evpl	UTSW	11	116,113,939 (GRCm39)	missense	probably damaging	1.00
R7288:Evpl	UTSW	11	116,114,775 (GRCm39)	missense	probably benign
R7395:Evpl	UTSW	11	116,117,905 (GRCm39)	missense	possibly damaging	0.94
R7441:Evpl	UTSW	11	116,113,782 (GRCm39)	nonsense	probably null
R7505:Evpl	UTSW	11	116,117,813 (GRCm39)	critical splice donor site	probably null
R7674:Evpl	UTSW	11	116,113,394 (GRCm39)	missense	probably benign	0.40
R7772:Evpl	UTSW	11	116,112,261 (GRCm39)	missense	probably benign	0.00
R7780:Evpl	UTSW	11	116,125,000 (GRCm39)	missense	not run
R7861:Evpl	UTSW	11	116,118,895 (GRCm39)	missense	probably damaging	1.00
R7928:Evpl	UTSW	11	116,113,359 (GRCm39)	missense	possibly damaging	0.63
R8008:Evpl	UTSW	11	116,121,298 (GRCm39)	missense	probably null	0.21
R8040:Evpl	UTSW	11	116,113,758 (GRCm39)	missense	probably damaging	0.99
R8052:Evpl	UTSW	11	116,113,989 (GRCm39)	missense	probably benign	0.00
R8402:Evpl	UTSW	11	116,116,197 (GRCm39)	missense	probably benign	0.03
R8513:Evpl	UTSW	11	116,120,570 (GRCm39)	critical splice donor site	probably null
R8695:Evpl	UTSW	11	116,114,489 (GRCm39)	missense	probably benign	0.02
R8725:Evpl	UTSW	11	116,113,019 (GRCm39)	missense	probably benign	0.25
R8749:Evpl	UTSW	11	116,120,232 (GRCm39)	missense	probably benign	0.01
R8807:Evpl	UTSW	11	116,111,853 (GRCm39)	missense	probably damaging	1.00
R8883:Evpl	UTSW	11	116,121,243 (GRCm39)	missense	probably damaging	0.99
R8947:Evpl	UTSW	11	116,112,164 (GRCm39)	missense	probably damaging	1.00
R9123:Evpl	UTSW	11	116,115,008 (GRCm39)	missense	possibly damaging	0.62
R9314:Evpl	UTSW	11	116,118,503 (GRCm39)	missense	probably benign	0.13
R9581:Evpl	UTSW	11	116,120,660 (GRCm39)	missense	probably benign	0.30
R9665:Evpl	UTSW	11	116,123,497 (GRCm39)	missense	probably damaging	1.00
R9688:Evpl	UTSW	11	116,124,986 (GRCm39)	missense	probably damaging	1.00
R9756:Evpl	UTSW	11	116,112,077 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2019-06-07