Incidental Mutation 'PIT4494001:Eppk1'
| ID |
556164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eppk1
|
| Ensembl Gene |
ENSMUSG00000115388 |
| Gene Name |
epiplakin 1 |
| Synonyms |
EPIPL1, EPPK |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.262)
|
| Stock # |
PIT4494001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
75973337-76004395 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75990272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 2203
(Q2203L)
|
| 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: Q2203L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.1%
- 10x: 85.6%
- 20x: 73.9%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
T |
C |
4: 123,754,698 (GRCm39) |
I204T |
probably benign |
Het |
| Acnat2 |
T |
C |
4: 49,383,133 (GRCm39) |
E140G |
probably benign |
Het |
| Arhgef10l |
T |
C |
4: 140,292,522 (GRCm39) |
E413G |
probably damaging |
Het |
| Atg9a |
A |
T |
1: 75,164,597 (GRCm39) |
C122* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,933,975 (GRCm39) |
Y2544H |
probably damaging |
Het |
| C3 |
G |
A |
17: 57,516,263 (GRCm39) |
T1383I |
probably benign |
Het |
| Cd2ap |
C |
T |
17: 43,163,258 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,804,813 (GRCm39) |
T466A |
probably benign |
Het |
| Cdhr2 |
G |
T |
13: 54,866,255 (GRCm39) |
|
probably null |
Het |
| F10 |
T |
C |
8: 13,103,423 (GRCm39) |
L281P |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,545,316 (GRCm39) |
T825A |
probably damaging |
Het |
| Fbxw27 |
T |
C |
9: 109,601,178 (GRCm39) |
E314G |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,120,355 (GRCm39) |
E173G |
possibly damaging |
Het |
| Gm4847 |
T |
C |
1: 166,467,587 (GRCm39) |
E203G |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,275,800 (GRCm39) |
R526H |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,402,960 (GRCm39) |
Y842C |
probably damaging |
Het |
| Hyal4 |
T |
C |
6: 24,755,833 (GRCm39) |
V17A |
probably benign |
Het |
| Igkv4-68 |
T |
C |
6: 69,282,091 (GRCm39) |
T27A |
probably damaging |
Het |
| Loxhd1 |
A |
T |
18: 77,529,464 (GRCm39) |
N2036Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,660,091 (GRCm39) |
Y991C |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,456,741 (GRCm39) |
Y841C |
probably damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mynn |
C |
T |
3: 30,661,871 (GRCm39) |
R318* |
probably null |
Het |
| Notch1 |
C |
T |
2: 26,356,485 (GRCm39) |
V1711M |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,766,311 (GRCm39) |
|
probably null |
Het |
| Pex7 |
A |
G |
10: 19,770,469 (GRCm39) |
|
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,796,775 (GRCm39) |
T2417A |
probably damaging |
Het |
| Pknox2 |
A |
G |
9: 36,865,987 (GRCm39) |
|
probably null |
Het |
| Plekha4 |
T |
C |
7: 45,197,503 (GRCm39) |
S522P |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,092,168 (GRCm39) |
S310R |
probably benign |
Het |
| Rap2a |
A |
G |
14: 120,716,319 (GRCm39) |
T61A |
possibly damaging |
Het |
| Ryr3 |
G |
T |
2: 112,672,221 (GRCm39) |
L1437M |
probably damaging |
Het |
| Slc25a40 |
T |
G |
5: 8,490,737 (GRCm39) |
I95S |
probably damaging |
Het |
| Srbd1 |
C |
T |
17: 86,449,787 (GRCm39) |
|
probably null |
Het |
| Tox4 |
C |
T |
14: 52,529,260 (GRCm39) |
T407I |
possibly damaging |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,712 (GRCm39) |
I254M |
probably benign |
Het |
| Wiz |
G |
A |
17: 32,580,905 (GRCm39) |
A182V |
probably damaging |
Het |
| Zfp60 |
T |
C |
7: 27,448,126 (GRCm39) |
S265P |
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 |
|
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 |
|
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'- ACTGGGTCGATGATGAAGCC -3'
(R):5'- TGCTGAACTCAGAGTATGTGTC -3'
Sequencing Primer
(F):5'- TCGATGATGAAGCCTGTGG -3'
(R):5'- TCAGAGTATGTGTCTGAAGAGAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation