Incidental Mutation 'R5416:Evpl'
| ID |
427749 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Evpl
|
| Ensembl Gene |
ENSMUSG00000034282 |
| Gene Name |
envoplakin |
| Synonyms |
210kDa protein |
| MMRRC Submission |
042985-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5416 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
116111385-116128903 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 116125085 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 126
(V126L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037850
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037007]
|
| AlphaFold |
Q9D952 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037007
AA Change: V126L
PolyPhen 2
Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000037850
Gene: ENSMUSG00000034282
AA Change: V126L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,871,331 (GRCm39) |
E689D |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,227,997 (GRCm39) |
E339G |
probably benign |
Het |
| Adcy3 |
G |
A |
12: 4,259,308 (GRCm39) |
E861K |
probably damaging |
Het |
| Adrm1 |
C |
T |
2: 179,817,930 (GRCm39) |
T394I |
probably benign |
Het |
| Adsl |
T |
A |
15: 80,836,384 (GRCm39) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,657,551 (GRCm39) |
C1854S |
probably damaging |
Het |
| C87436 |
A |
G |
6: 86,442,832 (GRCm39) |
Y458C |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,341,525 (GRCm39) |
D1161G |
probably damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,166,104 (GRCm39) |
P775L |
possibly damaging |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,226,809 (GRCm39) |
Y90C |
probably damaging |
Het |
| Chadl |
T |
C |
15: 81,578,100 (GRCm39) |
R510G |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,141,211 (GRCm39) |
T115A |
probably benign |
Het |
| Clptm1 |
C |
A |
7: 19,367,741 (GRCm39) |
|
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,020,786 (GRCm39) |
R386* |
probably null |
Het |
| Ctsj |
G |
T |
13: 61,152,337 (GRCm39) |
L10M |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,517 (GRCm39) |
D302G |
probably benign |
Het |
| Edrf1 |
T |
C |
7: 133,243,131 (GRCm39) |
F166L |
possibly damaging |
Het |
| Epha1 |
A |
T |
6: 42,342,805 (GRCm39) |
M248K |
probably damaging |
Het |
| Fam83d |
T |
C |
2: 158,627,552 (GRCm39) |
C414R |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,194,514 (GRCm39) |
N1175S |
possibly damaging |
Het |
| Fhad1 |
G |
A |
4: 141,646,113 (GRCm39) |
T283I |
probably benign |
Het |
| Fuca1 |
A |
G |
4: 135,650,291 (GRCm39) |
T121A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,925,079 (GRCm39) |
S175T |
unknown |
Het |
| Gpr107 |
T |
A |
2: 31,075,560 (GRCm39) |
I357N |
probably damaging |
Het |
| Gpr161 |
T |
A |
1: 165,149,030 (GRCm39) |
H466Q |
probably benign |
Het |
| Hsd3b5 |
A |
G |
3: 98,526,466 (GRCm39) |
F327L |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Itgb7 |
A |
T |
15: 102,125,744 (GRCm39) |
D628E |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,322 (GRCm39) |
D236G |
possibly damaging |
Het |
| Or56b2j |
C |
T |
7: 104,352,923 (GRCm39) |
L50F |
probably benign |
Het |
| Or6d14 |
A |
T |
6: 116,534,166 (GRCm39) |
Y260F |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,008 (GRCm39) |
Y562C |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,182,107 (GRCm39) |
H376R |
possibly damaging |
Het |
| Plxnc1 |
G |
A |
10: 94,673,416 (GRCm39) |
T1018I |
probably damaging |
Het |
| Ppp6r1 |
A |
T |
7: 4,642,747 (GRCm39) |
D532E |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,623,814 (GRCm39) |
L3259P |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,091,326 (GRCm39) |
D641E |
probably benign |
Het |
| Psg26 |
T |
C |
7: 18,216,525 (GRCm39) |
T105A |
probably benign |
Het |
| Ptprs |
T |
C |
17: 56,742,724 (GRCm39) |
T473A |
probably damaging |
Het |
| Pwp2 |
G |
T |
10: 78,018,835 (GRCm39) |
N57K |
probably damaging |
Het |
| Rnf216 |
G |
T |
5: 143,001,526 (GRCm39) |
C733* |
probably null |
Het |
| Serpina1f |
T |
A |
12: 103,660,203 (GRCm39) |
K26N |
possibly damaging |
Het |
| Sez6l2 |
T |
A |
7: 126,561,058 (GRCm39) |
C448S |
probably damaging |
Het |
| Slc28a3 |
A |
T |
13: 58,724,607 (GRCm39) |
L216M |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,365,433 (GRCm39) |
S117P |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 41,913,932 (GRCm39) |
C1332* |
probably null |
Het |
| Specc1 |
T |
C |
11: 62,009,735 (GRCm39) |
V497A |
probably benign |
Het |
| Tmem204 |
T |
C |
17: 25,277,300 (GRCm39) |
E195G |
probably damaging |
Het |
| Tnfrsf13b |
T |
C |
11: 61,037,849 (GRCm39) |
|
probably null |
Het |
| Ttll5 |
G |
A |
12: 86,059,602 (GRCm39) |
V1250M |
possibly damaging |
Het |
| Ube4a |
G |
A |
9: 44,852,476 (GRCm39) |
T681I |
probably damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,790,879 (GRCm39) |
V404I |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,030,319 (GRCm39) |
S919P |
probably benign |
Het |
| Zfp575 |
C |
T |
7: 24,286,147 (GRCm39) |
G3D |
probably benign |
Het |
| Zfp644 |
C |
T |
5: 106,766,294 (GRCm39) |
|
silent |
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 |
|
PIT4449001:Evpl
|
UTSW |
11 |
116,124,225 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
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 |
PCR Primer
(F):5'- CTCCAGTAGACACCATTCTGTC -3'
(R):5'- GGCTTTACAACACCAGCAGG -3'
Sequencing Primer
(F):5'- CTTGCTCTCTGACTGCACCG -3'
(R):5'- CAAAGATCTCTTCCTGGATGTAGAC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation