Incidental Mutation 'R4997:Ppl'
ID |
385388 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppl
|
Ensembl Gene |
ENSMUSG00000039457 |
Gene Name |
periplakin |
Synonyms |
|
MMRRC Submission |
042591-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4997 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 4907235 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 1020
(R1020L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039360
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035672]
[ENSMUST00000052449]
[ENSMUST00000229126]
[ENSMUST00000230703]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035672
AA Change: R1020L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039360 Gene: ENSMUSG00000039457 AA Change: R1020L
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 |
probably benign
Transcript: ENSMUST00000052449
|
SMART Domains |
Protein: ENSMUSP00000061843 Gene: ENSMUSG00000039473
Domain | Start | End | E-Value | Type |
Pfam:HUN
|
117 |
168 |
1.4e-22 |
PFAM |
low complexity region
|
181 |
224 |
N/A |
INTRINSIC |
low complexity region
|
232 |
238 |
N/A |
INTRINSIC |
low complexity region
|
250 |
267 |
N/A |
INTRINSIC |
low complexity region
|
331 |
344 |
N/A |
INTRINSIC |
Pfam:UBN_AB
|
353 |
573 |
2.4e-80 |
PFAM |
low complexity region
|
792 |
804 |
N/A |
INTRINSIC |
low complexity region
|
856 |
882 |
N/A |
INTRINSIC |
low complexity region
|
905 |
934 |
N/A |
INTRINSIC |
low complexity region
|
970 |
984 |
N/A |
INTRINSIC |
low complexity region
|
996 |
1006 |
N/A |
INTRINSIC |
low complexity region
|
1016 |
1034 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1098 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229126
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229386
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230703
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
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 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 |
A630023A22Rik |
A |
T |
14: 33,775,623 (GRCm39) |
M1L |
probably benign |
Het |
Abca7 |
C |
A |
10: 79,843,154 (GRCm39) |
Q1210K |
possibly damaging |
Het |
Abcc4 |
C |
T |
14: 118,753,915 (GRCm39) |
W1024* |
probably null |
Het |
Accs |
A |
T |
2: 93,672,228 (GRCm39) |
Y213* |
probably null |
Het |
Adam6a |
G |
T |
12: 113,508,991 (GRCm39) |
G455C |
probably damaging |
Het |
Adcy1 |
A |
C |
11: 7,111,298 (GRCm39) |
Y863S |
probably benign |
Het |
Adgrg1 |
A |
G |
8: 95,736,148 (GRCm39) |
D434G |
probably damaging |
Het |
Afap1l1 |
C |
T |
18: 61,884,879 (GRCm39) |
R202Q |
probably benign |
Het |
Aldh3a1 |
T |
C |
11: 61,103,137 (GRCm39) |
V27A |
probably benign |
Het |
Antxr2 |
A |
G |
5: 98,125,553 (GRCm39) |
F235L |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,342,846 (GRCm39) |
V376E |
probably damaging |
Het |
Brca1 |
A |
C |
11: 101,415,159 (GRCm39) |
S992A |
probably damaging |
Het |
Brcc3dc |
A |
G |
10: 108,535,649 (GRCm39) |
I102T |
probably benign |
Het |
Calcrl |
A |
T |
2: 84,181,592 (GRCm39) |
C185* |
probably null |
Het |
Cep152 |
T |
C |
2: 125,428,271 (GRCm39) |
T787A |
probably benign |
Het |
Coch |
T |
A |
12: 51,649,964 (GRCm39) |
|
probably null |
Het |
Col5a1 |
T |
A |
2: 27,922,794 (GRCm39) |
Y287* |
probably null |
Het |
Dis3l |
A |
G |
9: 64,219,224 (GRCm39) |
S569P |
possibly damaging |
Het |
Dnai1 |
A |
G |
4: 41,597,919 (GRCm39) |
I74V |
possibly damaging |
Het |
Dpy19l4 |
A |
G |
4: 11,287,493 (GRCm39) |
V394A |
probably benign |
Het |
Egfem1 |
A |
G |
3: 29,207,739 (GRCm39) |
H122R |
probably benign |
Het |
Endou |
A |
G |
15: 97,617,458 (GRCm39) |
L164P |
probably damaging |
Het |
Epgn |
A |
G |
5: 91,180,098 (GRCm39) |
E80G |
possibly damaging |
Het |
Fcgbpl1 |
T |
G |
7: 27,843,349 (GRCm39) |
S746A |
possibly damaging |
Het |
Fitm1 |
T |
C |
14: 55,814,364 (GRCm39) |
S287P |
probably benign |
Het |
Foxm1 |
A |
G |
6: 128,342,731 (GRCm39) |
N22D |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,648,629 (GRCm39) |
M426K |
probably damaging |
Het |
Hmcn2 |
T |
A |
2: 31,291,720 (GRCm39) |
V2418D |
probably damaging |
Het |
Hs3st2 |
T |
A |
7: 121,099,679 (GRCm39) |
L175Q |
possibly damaging |
Het |
Il1r2 |
T |
C |
1: 40,160,206 (GRCm39) |
|
probably null |
Het |
Il27ra |
A |
T |
8: 84,766,156 (GRCm39) |
Y209* |
probably null |
Het |
Inpp5a |
A |
T |
7: 138,980,654 (GRCm39) |
S31C |
probably benign |
Het |
Invs |
A |
G |
4: 48,396,332 (GRCm39) |
D335G |
probably damaging |
Het |
Isg15 |
C |
T |
4: 156,284,154 (GRCm39) |
E125K |
possibly damaging |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama4 |
C |
A |
10: 38,968,262 (GRCm39) |
T1468K |
probably damaging |
Het |
Lce1a2 |
A |
G |
3: 92,576,395 (GRCm39) |
S56P |
unknown |
Het |
Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
Lmf1 |
G |
A |
17: 25,807,650 (GRCm39) |
W164* |
probably null |
Het |
Mad2l1bp |
G |
T |
17: 46,463,804 (GRCm39) |
C73* |
probably null |
Het |
Mpzl1 |
A |
C |
1: 165,429,350 (GRCm39) |
V230G |
probably damaging |
Het |
Myo3b |
A |
G |
2: 70,088,427 (GRCm39) |
T869A |
possibly damaging |
Het |
Ncor2 |
T |
C |
5: 125,111,074 (GRCm39) |
H1316R |
probably damaging |
Het |
Nlrp1b |
T |
A |
11: 71,109,160 (GRCm39) |
I114F |
probably damaging |
Het |
Nsun7 |
A |
G |
5: 66,453,182 (GRCm39) |
I632M |
probably benign |
Het |
Nubp1 |
T |
C |
16: 10,239,185 (GRCm39) |
I234T |
probably benign |
Het |
Olfml1 |
A |
G |
7: 107,170,413 (GRCm39) |
D100G |
probably damaging |
Het |
Or1e1b-ps1 |
T |
A |
11: 73,845,612 (GRCm39) |
L32Q |
probably damaging |
Het |
Or5p73 |
C |
A |
7: 108,064,701 (GRCm39) |
Q57K |
probably benign |
Het |
Or7g23 |
A |
T |
9: 19,086,627 (GRCm39) |
L115Q |
probably damaging |
Het |
Osmr |
G |
T |
15: 6,845,120 (GRCm39) |
P882Q |
probably benign |
Het |
Peg10 |
TCAGGATCC |
TCAGGATCCCCAGCAGGATCC |
6: 4,756,457 (GRCm39) |
|
probably benign |
Het |
Per2 |
T |
A |
1: 91,378,505 (GRCm39) |
T15S |
probably benign |
Het |
Piezo2 |
A |
G |
18: 63,216,184 (GRCm39) |
Y1184H |
probably damaging |
Het |
Pik3c2b |
C |
T |
1: 133,032,819 (GRCm39) |
A1560V |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,743,441 (GRCm39) |
L256R |
probably damaging |
Het |
Ppp1r10 |
A |
G |
17: 36,234,976 (GRCm39) |
N60S |
probably damaging |
Het |
Prkcg |
T |
C |
7: 3,371,097 (GRCm39) |
|
probably null |
Het |
Prkci |
T |
C |
3: 31,085,375 (GRCm39) |
|
probably null |
Het |
Prrc2b |
A |
G |
2: 32,112,323 (GRCm39) |
Y1929C |
probably damaging |
Het |
Prss12 |
T |
C |
3: 123,240,857 (GRCm39) |
V17A |
probably benign |
Het |
Qtrt1 |
A |
G |
9: 21,328,654 (GRCm39) |
N206S |
probably benign |
Het |
Rad54l2 |
A |
C |
9: 106,600,108 (GRCm39) |
S50A |
possibly damaging |
Het |
Rhov |
C |
T |
2: 119,100,949 (GRCm39) |
R96H |
probably damaging |
Het |
Rph3a |
A |
T |
5: 121,101,906 (GRCm39) |
V110E |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,610,192 (GRCm39) |
N646K |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,854,935 (GRCm39) |
T141A |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,600,629 (GRCm39) |
R238G |
possibly damaging |
Het |
Shank3 |
T |
A |
15: 89,433,901 (GRCm39) |
W1474R |
probably damaging |
Het |
Slc16a12 |
T |
A |
19: 34,652,358 (GRCm39) |
M263L |
probably benign |
Het |
Spata13 |
T |
C |
14: 60,946,908 (GRCm39) |
V652A |
probably damaging |
Het |
Spata31 |
G |
A |
13: 65,067,537 (GRCm39) |
M66I |
probably benign |
Het |
Spem2 |
T |
C |
11: 69,708,558 (GRCm39) |
I136V |
probably benign |
Het |
Supt5 |
T |
C |
7: 28,015,462 (GRCm39) |
H925R |
probably benign |
Het |
Syk |
A |
T |
13: 52,766,484 (GRCm39) |
K190* |
probably null |
Het |
Thsd1 |
T |
A |
8: 22,733,340 (GRCm39) |
V129D |
probably damaging |
Het |
Tiprl |
A |
G |
1: 165,047,759 (GRCm39) |
V174A |
possibly damaging |
Het |
Tmed4 |
T |
A |
11: 6,224,500 (GRCm39) |
|
probably null |
Het |
Tnfrsf19 |
T |
C |
14: 61,208,658 (GRCm39) |
T288A |
probably benign |
Het |
Tnfrsf25 |
T |
C |
4: 152,202,153 (GRCm39) |
|
probably null |
Het |
Tpd52 |
A |
G |
3: 9,000,056 (GRCm39) |
L121S |
probably damaging |
Het |
Trim30a |
T |
A |
7: 104,060,827 (GRCm39) |
K316N |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,253,841 (GRCm39) |
D1221E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,714,403 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,776,615 (GRCm39) |
I1514V |
probably benign |
Het |
Ulk2 |
T |
C |
11: 61,689,982 (GRCm39) |
T671A |
probably benign |
Het |
Wasf1 |
C |
T |
10: 40,810,600 (GRCm39) |
P281S |
probably damaging |
Het |
Wnt10b |
C |
A |
15: 98,672,084 (GRCm39) |
R211L |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,332,577 (GRCm39) |
C371* |
probably null |
Het |
Zfp41 |
C |
T |
15: 75,490,617 (GRCm39) |
|
probably benign |
Het |
Zfp553 |
T |
A |
7: 126,834,683 (GRCm39) |
N79K |
probably benign |
Het |
Zmynd8 |
G |
T |
2: 165,634,736 (GRCm39) |
D1096E |
probably benign |
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 |
R4869:Ppl
|
UTSW |
16 |
4,922,753 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
|
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'- TAGGAAACTCAGCTCCTCCTCC -3'
(R):5'- GCACAAGAACCAGCTATTGC -3'
Sequencing Primer
(F):5'- GCTTCTCCCTGAGTGTGC -3'
(R):5'- CAGCTATTGCAGGAGGAGCTG -3'
|
Posted On |
2016-05-10 |