Incidental Mutation 'R4869:Ppl'
| ID |
376458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
042479-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4869 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4922753 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 246
(Y246C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035672]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035672
AA Change: Y246C
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: Y246C
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
123 |
211 |
1.58e0 |
SMART |
|
SPEC
|
214 |
315 |
3.38e-2 |
SMART |
|
SPEC
|
321 |
483 |
1.11e-2 |
SMART |
|
SPEC
|
503 |
610 |
4.96e0 |
SMART |
|
Blast:SPEC
|
613 |
717 |
5e-59 |
BLAST |
|
low complexity region
|
718 |
729 |
N/A |
INTRINSIC |
|
Blast:SPEC
|
732 |
859 |
2e-60 |
BLAST |
|
low complexity region
|
893 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
963 |
982 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
984 |
1004 |
3.46e-5 |
PROSPERO |
|
internal_repeat_1
|
992 |
1008 |
8.09e-7 |
PROSPERO |
|
low complexity region
|
1011 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1027 |
1042 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1112 |
1128 |
8.09e-7 |
PROSPERO |
|
coiled coil region
|
1180 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1346 |
1355 |
N/A |
INTRINSIC |
|
low complexity region
|
1386 |
1433 |
N/A |
INTRINSIC |
|
low complexity region
|
1455 |
1479 |
N/A |
INTRINSIC |
|
Blast:SPEC
|
1529 |
1610 |
8e-30 |
BLAST |
|
low complexity region
|
1612 |
1630 |
N/A |
INTRINSIC |
|
PLEC
|
1649 |
1683 |
1.34e-5 |
SMART |
|
PLEC
|
1698 |
1733 |
2.23e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230554
|
| Meta Mutation Damage Score |
0.1181 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (102/103) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of desmosomes and of the epidermal cornified envelope in keratinocytes. The N-terminal domain of this protein interacts with the plasma membrane and its C-terminus interacts with intermediate filaments. Through its rod domain, this protein forms complexes with envoplakin. This protein may serve as a link between the cornified envelope and desmosomes as well as intermediate filaments. AKT1/PKB, a protein kinase mediating a variety of cell growth and survival signaling processes, is reported to interact with this protein, suggesting a possible role for this protein as a localization signal in AKT1-mediated signaling. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are fertile and grossly normal with no apparent skin abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 93 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
C |
A |
9: 57,161,488 (GRCm39) |
K943N |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,265,434 (GRCm39) |
|
probably null |
Het |
| Ankub1 |
A |
G |
3: 57,597,751 (GRCm39) |
L73P |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,893,007 (GRCm39) |
I982V |
probably benign |
Het |
| Cabyr |
G |
T |
18: 12,884,875 (GRCm39) |
*454L |
probably null |
Het |
| Ccdc57 |
C |
T |
11: 120,794,344 (GRCm39) |
|
probably null |
Het |
| Cd209c |
A |
G |
8: 3,994,077 (GRCm39) |
F128L |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,212,713 (GRCm39) |
I1566N |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,364,200 (GRCm39) |
V106A |
possibly damaging |
Het |
| Cebpa |
G |
T |
7: 34,819,246 (GRCm39) |
G135C |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,958,420 (GRCm39) |
S896P |
probably benign |
Het |
| Ciz1 |
T |
C |
2: 32,254,247 (GRCm39) |
S63P |
probably damaging |
Het |
| Clybl |
G |
A |
14: 122,621,618 (GRCm39) |
V269M |
probably damaging |
Het |
| Ctnnb1 |
G |
T |
9: 120,782,060 (GRCm39) |
V358L |
possibly damaging |
Het |
| Cwh43 |
G |
T |
5: 73,586,016 (GRCm39) |
|
probably null |
Het |
| Cyp2d10 |
G |
A |
15: 82,287,967 (GRCm39) |
R379C |
probably benign |
Het |
| Dab2ip |
C |
A |
2: 35,610,049 (GRCm39) |
R727S |
probably damaging |
Het |
| Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
| Dock1 |
A |
T |
7: 134,335,800 (GRCm39) |
I65F |
probably damaging |
Het |
| Ercc2 |
T |
C |
7: 19,120,732 (GRCm39) |
V155A |
probably damaging |
Het |
| Exph5 |
A |
C |
9: 53,287,539 (GRCm39) |
D1540A |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 16,288,773 (GRCm39) |
H250L |
probably damaging |
Het |
| Fbxw10 |
C |
A |
11: 62,753,557 (GRCm39) |
A517E |
probably damaging |
Het |
| Furin |
A |
T |
7: 80,046,727 (GRCm39) |
N176K |
probably damaging |
Het |
| Gabrb3 |
A |
G |
7: 57,442,207 (GRCm39) |
|
probably benign |
Het |
| Gabrg2 |
A |
T |
11: 41,811,231 (GRCm39) |
S305T |
probably damaging |
Het |
| Gas6 |
G |
T |
8: 13,525,086 (GRCm39) |
S299R |
possibly damaging |
Het |
| Gga3 |
G |
T |
11: 115,477,111 (GRCm39) |
|
probably benign |
Het |
| Gle1 |
A |
G |
2: 29,826,032 (GRCm39) |
E37G |
possibly damaging |
Het |
| Gm7964 |
A |
G |
7: 83,405,350 (GRCm39) |
D80G |
possibly damaging |
Het |
| Gne |
C |
T |
4: 44,055,204 (GRCm39) |
|
probably null |
Het |
| Grid2 |
G |
T |
6: 64,406,724 (GRCm39) |
G695W |
probably damaging |
Het |
| H2-M10.6 |
A |
T |
17: 37,123,425 (GRCm39) |
M40L |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,460,735 (GRCm39) |
V905L |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,049,412 (GRCm39) |
S441R |
possibly damaging |
Het |
| Kcnh3 |
C |
T |
15: 99,139,913 (GRCm39) |
S933L |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,902,832 (GRCm39) |
I1511T |
possibly damaging |
Het |
| Krt73 |
T |
C |
15: 101,704,833 (GRCm39) |
E351G |
probably damaging |
Het |
| Lipo4 |
C |
T |
19: 33,478,953 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
T |
A |
11: 60,598,036 (GRCm39) |
L360* |
probably null |
Het |
| Map2k5 |
G |
A |
9: 63,229,525 (GRCm39) |
R169* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,781,910 (GRCm39) |
|
noncoding transcript |
Het |
| Muc4 |
G |
A |
16: 32,754,836 (GRCm38) |
|
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,143,490 (GRCm39) |
E1074G |
probably damaging |
Het |
| Naip5 |
C |
T |
13: 100,381,639 (GRCm39) |
G210E |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,837,296 (GRCm39) |
S23P |
probably benign |
Het |
| Nepro |
T |
A |
16: 44,550,536 (GRCm39) |
M176K |
probably damaging |
Het |
| Nlrp6 |
G |
A |
7: 140,504,006 (GRCm39) |
C704Y |
probably damaging |
Het |
| Notch1 |
A |
G |
2: 26,361,191 (GRCm39) |
S1100P |
probably benign |
Het |
| Nrxn3 |
A |
G |
12: 88,762,352 (GRCm39) |
E133G |
possibly damaging |
Het |
| Obi1 |
A |
G |
14: 104,716,252 (GRCm39) |
I707T |
probably damaging |
Het |
| Parp9 |
T |
C |
16: 35,777,274 (GRCm39) |
L406S |
probably damaging |
Het |
| Peak1 |
G |
T |
9: 56,134,876 (GRCm39) |
A155D |
probably benign |
Het |
| Piezo1 |
G |
A |
8: 123,214,284 (GRCm39) |
H1628Y |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,632,811 (GRCm39) |
V587A |
probably benign |
Het |
| Pkn2 |
A |
G |
3: 142,509,379 (GRCm39) |
Y722H |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,073,885 (GRCm39) |
I834K |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,163,951 (GRCm39) |
T795A |
possibly damaging |
Het |
| Plekhh1 |
A |
G |
12: 79,097,160 (GRCm39) |
S103G |
probably benign |
Het |
| Prpf40b |
G |
A |
15: 99,207,726 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
G |
5: 32,986,177 (GRCm39) |
L1106P |
probably damaging |
Het |
| Ptbp3 |
T |
A |
4: 59,524,443 (GRCm39) |
I28F |
possibly damaging |
Het |
| Ptrh2 |
A |
T |
11: 86,580,631 (GRCm39) |
K83* |
probably null |
Het |
| Rai1 |
T |
C |
11: 60,077,588 (GRCm39) |
S551P |
probably damaging |
Het |
| Rapgefl1 |
A |
T |
11: 98,741,935 (GRCm39) |
Q633L |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,285,245 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
T |
A |
2: 51,983,623 (GRCm39) |
|
probably benign |
Het |
| Rnf141 |
A |
G |
7: 110,424,557 (GRCm39) |
Y101H |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,061,138 (GRCm39) |
L1102* |
probably null |
Het |
| Sall4 |
G |
A |
2: 168,597,637 (GRCm39) |
S401F |
probably damaging |
Het |
| Saxo5 |
G |
A |
8: 3,537,148 (GRCm39) |
S498N |
probably damaging |
Het |
| Sec11c |
T |
C |
18: 65,934,541 (GRCm39) |
I36T |
probably benign |
Het |
| Sel1l |
A |
G |
12: 91,780,828 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,396,776 (GRCm39) |
|
probably benign |
Het |
| Sez6l2 |
C |
T |
7: 126,561,014 (GRCm39) |
P433L |
probably benign |
Het |
| Sgf29 |
T |
C |
7: 126,248,547 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,253,520 (GRCm39) |
V305A |
probably benign |
Het |
| Slco1a8 |
T |
C |
6: 141,933,492 (GRCm39) |
D431G |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,612,587 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,830 (GRCm39) |
S609G |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,327,880 (GRCm39) |
|
probably null |
Het |
| Tns1 |
T |
C |
1: 73,991,774 (GRCm39) |
H968R |
probably benign |
Het |
| Tomm34 |
G |
A |
2: 163,896,637 (GRCm39) |
A270V |
probably damaging |
Het |
| Tpo |
T |
C |
12: 30,153,364 (GRCm39) |
K330R |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,542,837 (GRCm39) |
Y33383F |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,587,716 (GRCm39) |
A1439D |
probably benign |
Het |
| Vcp |
C |
T |
4: 42,993,691 (GRCm39) |
R147H |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,854,612 (GRCm39) |
L2272P |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,042,787 (GRCm39) |
L1988P |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,373,713 (GRCm39) |
F51S |
probably damaging |
Het |
| Zfp454 |
C |
T |
11: 50,763,980 (GRCm39) |
C373Y |
probably damaging |
Het |
| Zfp853 |
A |
T |
5: 143,274,048 (GRCm39) |
V473E |
probably damaging |
Het |
| Zfp959 |
A |
T |
17: 56,204,228 (GRCm39) |
R85S |
possibly damaging |
Het |
|
| Other mutations in Ppl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Ppl
|
APN |
16 |
4,907,409 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL00484:Ppl
|
APN |
16 |
4,905,816 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL00654:Ppl
|
APN |
16 |
4,905,172 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL00832:Ppl
|
APN |
16 |
4,906,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01104:Ppl
|
APN |
16 |
4,912,355 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01327:Ppl
|
APN |
16 |
4,905,508 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01644:Ppl
|
APN |
16 |
4,909,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01824:Ppl
|
APN |
16 |
4,905,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Ppl
|
APN |
16 |
4,930,936 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02085:Ppl
|
APN |
16 |
4,907,680 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02282:Ppl
|
APN |
16 |
4,919,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02635:Ppl
|
APN |
16 |
4,907,631 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02649:Ppl
|
APN |
16 |
4,905,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Ppl
|
APN |
16 |
4,918,271 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03305:Ppl
|
APN |
16 |
4,911,097 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
G4846:Ppl
|
UTSW |
16 |
4,905,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03097:Ppl
|
UTSW |
16 |
4,914,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0759:Ppl
|
UTSW |
16 |
4,907,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0786:Ppl
|
UTSW |
16 |
4,906,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1024:Ppl
|
UTSW |
16 |
4,917,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Ppl
|
UTSW |
16 |
4,922,629 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1544:Ppl
|
UTSW |
16 |
4,920,461 (GRCm39) |
nonsense |
probably null |
|
|
R1597:Ppl
|
UTSW |
16 |
4,925,438 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1863:Ppl
|
UTSW |
16 |
4,905,844 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1921:Ppl
|
UTSW |
16 |
4,923,988 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2230:Ppl
|
UTSW |
16 |
4,906,845 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2275:Ppl
|
UTSW |
16 |
4,912,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2355:Ppl
|
UTSW |
16 |
4,912,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3410:Ppl
|
UTSW |
16 |
4,925,381 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3737:Ppl
|
UTSW |
16 |
4,924,721 (GRCm39) |
missense |
probably benign |
|
|
R3797:Ppl
|
UTSW |
16 |
4,922,414 (GRCm39) |
splice site |
probably benign |
|
|
R3968:Ppl
|
UTSW |
16 |
4,918,196 (GRCm39) |
splice site |
probably null |
|
|
R3970:Ppl
|
UTSW |
16 |
4,918,196 (GRCm39) |
splice site |
probably null |
|
|
R4034:Ppl
|
UTSW |
16 |
4,924,721 (GRCm39) |
missense |
probably benign |
|
|
R4583:Ppl
|
UTSW |
16 |
4,922,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4639:Ppl
|
UTSW |
16 |
4,907,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4762:Ppl
|
UTSW |
16 |
4,906,846 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4828:Ppl
|
UTSW |
16 |
4,922,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4925:Ppl
|
UTSW |
16 |
4,922,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Ppl
|
UTSW |
16 |
4,906,582 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4984:Ppl
|
UTSW |
16 |
4,905,505 (GRCm39) |
missense |
probably benign |
|
|
R4997:Ppl
|
UTSW |
16 |
4,907,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Ppl
|
UTSW |
16 |
4,906,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5073:Ppl
|
UTSW |
16 |
4,906,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5074:Ppl
|
UTSW |
16 |
4,906,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5286:Ppl
|
UTSW |
16 |
4,906,987 (GRCm39) |
nonsense |
probably null |
|
|
R5398:Ppl
|
UTSW |
16 |
4,922,786 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5448:Ppl
|
UTSW |
16 |
4,925,430 (GRCm39) |
missense |
probably benign |
|
|
R5664:Ppl
|
UTSW |
16 |
4,923,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5873:Ppl
|
UTSW |
16 |
4,923,913 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5918:Ppl
|
UTSW |
16 |
4,922,765 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5951:Ppl
|
UTSW |
16 |
4,906,492 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6038:Ppl
|
UTSW |
16 |
4,920,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6038:Ppl
|
UTSW |
16 |
4,920,445 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6088:Ppl
|
UTSW |
16 |
4,922,852 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6149:Ppl
|
UTSW |
16 |
4,925,460 (GRCm39) |
nonsense |
probably null |
|
|
R6358:Ppl
|
UTSW |
16 |
4,905,793 (GRCm39) |
nonsense |
probably null |
|
|
R6379:Ppl
|
UTSW |
16 |
4,915,555 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6468:Ppl
|
UTSW |
16 |
4,910,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6514:Ppl
|
UTSW |
16 |
4,905,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Ppl
|
UTSW |
16 |
4,905,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6703:Ppl
|
UTSW |
16 |
4,907,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6721:Ppl
|
UTSW |
16 |
4,925,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6811:Ppl
|
UTSW |
16 |
4,907,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6934:Ppl
|
UTSW |
16 |
4,912,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7034:Ppl
|
UTSW |
16 |
4,905,366 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7076:Ppl
|
UTSW |
16 |
4,917,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Ppl
|
UTSW |
16 |
4,920,235 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7349:Ppl
|
UTSW |
16 |
4,922,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7359:Ppl
|
UTSW |
16 |
4,907,205 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7378:Ppl
|
UTSW |
16 |
4,930,860 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7383:Ppl
|
UTSW |
16 |
4,915,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7389:Ppl
|
UTSW |
16 |
4,924,577 (GRCm39) |
splice site |
probably null |
|
|
R7445:Ppl
|
UTSW |
16 |
4,906,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7687:Ppl
|
UTSW |
16 |
4,915,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7752:Ppl
|
UTSW |
16 |
4,920,166 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7827:Ppl
|
UTSW |
16 |
4,905,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7836:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7842:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8126:Ppl
|
UTSW |
16 |
4,906,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8284:Ppl
|
UTSW |
16 |
4,950,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:Ppl
|
UTSW |
16 |
4,905,300 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8781:Ppl
|
UTSW |
16 |
4,915,800 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8835:Ppl
|
UTSW |
16 |
4,906,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Ppl
|
UTSW |
16 |
4,906,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8837:Ppl
|
UTSW |
16 |
4,906,854 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8866:Ppl
|
UTSW |
16 |
4,920,211 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8894:Ppl
|
UTSW |
16 |
4,925,206 (GRCm39) |
intron |
probably benign |
|
|
R8922:Ppl
|
UTSW |
16 |
4,923,815 (GRCm39) |
missense |
probably benign |
|
|
R8927:Ppl
|
UTSW |
16 |
4,905,474 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8928:Ppl
|
UTSW |
16 |
4,905,474 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9070:Ppl
|
UTSW |
16 |
4,907,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9314:Ppl
|
UTSW |
16 |
4,922,367 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9642:Ppl
|
UTSW |
16 |
4,915,602 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF009:Ppl
|
UTSW |
16 |
4,915,795 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0054:Ppl
|
UTSW |
16 |
4,922,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Ppl
|
UTSW |
16 |
4,907,371 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Ppl
|
UTSW |
16 |
4,924,642 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Ppl
|
UTSW |
16 |
4,915,821 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCACCTCAATGGAGTTCC -3'
(R):5'- GAAGCCAAGCCGATTCTGTC -3'
Sequencing Primer
(F):5'- AGCAGTTGGTCACCTTCAG -3'
(R):5'- GCCAAGCCGATTCTGTCTTCAC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation