Incidental Mutation 'IGL02948:Evpl'
ID |
364828 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Evpl
|
Ensembl Gene |
ENSMUSG00000034282 |
Gene Name |
envoplakin |
Synonyms |
210kDa protein |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02948
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
116111385-116128903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116112648 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1681
(T1681A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037850
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037007]
[ENSMUST00000174177]
|
AlphaFold |
Q9D952 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037007
AA Change: T1681A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037850 Gene: ENSMUSG00000034282 AA Change: T1681A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173567
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174177
|
SMART Domains |
Protein: ENSMUSP00000134251 Gene: ENSMUSG00000092300
Domain | Start | End | E-Value | Type |
S_TKc
|
4 |
285 |
4e-105 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174248
|
Coding Region Coverage |
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
A |
T |
6: 23,094,318 (GRCm39) |
|
probably benign |
Het |
Ano3 |
A |
T |
2: 110,527,363 (GRCm39) |
|
probably benign |
Het |
Arpp21 |
T |
C |
9: 112,005,268 (GRCm39) |
Y193C |
probably damaging |
Het |
Atm |
G |
A |
9: 53,364,740 (GRCm39) |
|
probably benign |
Het |
Ceacam13 |
C |
T |
7: 17,744,988 (GRCm39) |
|
probably benign |
Het |
Cenpi |
T |
A |
X: 133,250,017 (GRCm39) |
C599S |
possibly damaging |
Het |
Clec7a |
A |
C |
6: 129,442,441 (GRCm39) |
D195E |
possibly damaging |
Het |
Cnksr1 |
T |
C |
4: 133,962,417 (GRCm39) |
|
probably null |
Het |
Cntn1 |
A |
G |
15: 92,143,891 (GRCm39) |
T285A |
probably benign |
Het |
Dusp4 |
G |
T |
8: 35,285,726 (GRCm39) |
G329V |
probably damaging |
Het |
Emb |
C |
A |
13: 117,409,602 (GRCm39) |
|
probably benign |
Het |
Esyt1 |
A |
T |
10: 128,355,040 (GRCm39) |
S496T |
probably damaging |
Het |
Fam131b |
A |
C |
6: 42,297,926 (GRCm39) |
|
probably benign |
Het |
Fam162b |
T |
C |
10: 51,463,392 (GRCm39) |
M92V |
probably damaging |
Het |
Fbxw2 |
T |
C |
2: 34,695,723 (GRCm39) |
*455W |
probably null |
Het |
Gm12886 |
A |
G |
4: 121,280,234 (GRCm39) |
L14P |
unknown |
Het |
Gpc4 |
A |
T |
X: 51,163,178 (GRCm39) |
V235E |
probably damaging |
Het |
Gss |
A |
G |
2: 155,419,541 (GRCm39) |
L170P |
probably damaging |
Het |
Hbs1l |
C |
T |
10: 21,217,610 (GRCm39) |
|
probably benign |
Het |
Hhatl |
T |
C |
9: 121,618,857 (GRCm39) |
M92V |
probably benign |
Het |
Hhla1 |
A |
T |
15: 65,814,542 (GRCm39) |
L194H |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,757 (GRCm39) |
R452S |
probably benign |
Het |
Homer2 |
C |
A |
7: 81,299,393 (GRCm39) |
W24L |
probably damaging |
Het |
Lhcgr |
A |
T |
17: 89,050,050 (GRCm39) |
L492H |
probably damaging |
Het |
Lrba |
C |
A |
3: 86,217,691 (GRCm39) |
|
probably null |
Het |
Lrp2 |
G |
T |
2: 69,318,181 (GRCm39) |
P2090Q |
probably damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Madd |
T |
A |
2: 90,973,172 (GRCm39) |
M1497L |
probably benign |
Het |
Naprt |
C |
T |
15: 75,764,206 (GRCm39) |
R336Q |
probably damaging |
Het |
Nars1 |
A |
G |
18: 64,638,266 (GRCm39) |
C266R |
possibly damaging |
Het |
Or10v1 |
T |
A |
19: 11,874,145 (GRCm39) |
Y253* |
probably null |
Het |
Or5k8 |
T |
A |
16: 58,644,451 (GRCm39) |
Q207L |
probably benign |
Het |
Pard3 |
A |
T |
8: 128,032,975 (GRCm39) |
T190S |
probably benign |
Het |
Pstpip2 |
A |
G |
18: 77,942,507 (GRCm39) |
N86S |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,980,135 (GRCm39) |
T402A |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,943,598 (GRCm39) |
|
probably benign |
Het |
Ropn1l |
T |
C |
15: 31,451,325 (GRCm39) |
D53G |
possibly damaging |
Het |
Rps6ka2 |
G |
A |
17: 7,521,849 (GRCm39) |
|
probably null |
Het |
Rtn2 |
T |
C |
7: 19,027,036 (GRCm39) |
S17P |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,963,373 (GRCm39) |
V327A |
probably benign |
Het |
Slc22a16 |
T |
G |
10: 40,449,958 (GRCm39) |
Y131* |
probably null |
Het |
Slc28a2 |
T |
A |
2: 122,288,458 (GRCm39) |
M583K |
possibly damaging |
Het |
Slco1a6 |
G |
T |
6: 142,078,961 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
A |
11: 82,894,078 (GRCm39) |
I854F |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,520,582 (GRCm39) |
R823G |
probably benign |
Het |
Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
Tcl1b5 |
C |
T |
12: 105,145,273 (GRCm39) |
T79M |
probably benign |
Het |
Tmem104 |
G |
T |
11: 115,088,122 (GRCm39) |
A36S |
probably damaging |
Het |
Trim55 |
T |
A |
3: 19,725,116 (GRCm39) |
L211Q |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,332,419 (GRCm39) |
W204R |
possibly damaging |
Het |
Ttbk1 |
G |
A |
17: 46,757,256 (GRCm39) |
T1126I |
probably benign |
Het |
Ubqln2 |
C |
T |
X: 152,282,692 (GRCm39) |
Q415* |
probably null |
Het |
Unc13a |
C |
T |
8: 72,103,193 (GRCm39) |
R931H |
possibly damaging |
Het |
Utp4 |
T |
A |
8: 107,621,273 (GRCm39) |
S17T |
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 |
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 |
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 |
|
Posted On |
2015-12-18 |