Incidental Mutation 'R5073:Ppl'
ID |
389024 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppl
|
Ensembl Gene |
ENSMUSG00000039457 |
Gene Name |
periplakin |
Synonyms |
|
MMRRC Submission |
042662-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5073 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4906742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1184
(S1184R)
|
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 benign
Transcript: ENSMUST00000035672
AA Change: S1184R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000039360 Gene: ENSMUSG00000039457 AA Change: S1184R
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
|
Meta Mutation Damage Score |
0.0608 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
Validation Efficiency |
100% (113/113) |
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: 104 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,595 (GRCm39) |
H626Q |
probably benign |
Het |
Ampd2 |
A |
T |
3: 107,986,549 (GRCm39) |
M245K |
probably damaging |
Het |
Apob |
G |
A |
12: 8,055,219 (GRCm39) |
|
probably null |
Het |
Apool |
C |
T |
X: 111,259,540 (GRCm39) |
Q60* |
probably null |
Het |
Aqp1 |
A |
T |
6: 55,322,520 (GRCm39) |
I172F |
probably damaging |
Het |
Atp7a |
A |
G |
X: 105,153,374 (GRCm39) |
D1092G |
probably benign |
Het |
Bcas3 |
A |
G |
11: 85,261,958 (GRCm39) |
Y110C |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,287,215 (GRCm39) |
S148P |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,301 (GRCm39) |
H339R |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,954,722 (GRCm39) |
|
probably null |
Het |
Ccl2 |
A |
G |
11: 81,927,984 (GRCm39) |
|
probably benign |
Het |
Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
Cit |
T |
A |
5: 116,084,902 (GRCm39) |
M811K |
probably benign |
Het |
Crim1 |
T |
C |
17: 78,588,776 (GRCm39) |
C284R |
possibly damaging |
Het |
Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
Cyp4a29 |
A |
G |
4: 115,104,860 (GRCm39) |
T123A |
probably benign |
Het |
Dbndd2 |
A |
G |
2: 164,332,224 (GRCm39) |
|
probably benign |
Het |
Dnaja3 |
A |
T |
16: 4,514,289 (GRCm39) |
T274S |
probably damaging |
Het |
Dot1l |
A |
G |
10: 80,620,480 (GRCm39) |
D514G |
possibly damaging |
Het |
Dysf |
A |
T |
6: 84,114,254 (GRCm39) |
K1226M |
probably damaging |
Het |
Eef1akmt1 |
A |
G |
14: 57,803,464 (GRCm39) |
L30P |
probably damaging |
Het |
Elavl1 |
A |
G |
8: 4,351,741 (GRCm39) |
M125T |
possibly damaging |
Het |
Eml4 |
C |
A |
17: 83,771,006 (GRCm39) |
S723R |
probably damaging |
Het |
Fgf15 |
A |
C |
7: 144,450,576 (GRCm39) |
Y54S |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gprasp2 |
C |
T |
X: 134,743,346 (GRCm39) |
T235I |
possibly damaging |
Het |
H2ab3 |
T |
C |
X: 119,222,543 (GRCm39) |
T84A |
probably damaging |
Het |
Hal |
A |
T |
10: 93,349,904 (GRCm39) |
I555F |
probably damaging |
Het |
Hdac6 |
A |
G |
X: 7,811,036 (GRCm39) |
F104L |
probably damaging |
Het |
Hibadh |
C |
T |
6: 52,597,079 (GRCm39) |
V122M |
possibly damaging |
Het |
Hmga1b |
C |
T |
11: 120,654,012 (GRCm39) |
Q100* |
probably null |
Het |
Hydin |
A |
G |
8: 111,265,105 (GRCm39) |
N2763D |
probably benign |
Het |
Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
Ifnlr1 |
A |
G |
4: 135,432,457 (GRCm39) |
T298A |
probably benign |
Het |
Impdh2 |
G |
A |
9: 108,440,535 (GRCm39) |
|
probably null |
Het |
Insr |
A |
G |
8: 3,209,475 (GRCm39) |
F1203L |
probably damaging |
Het |
Kcnq4 |
A |
G |
4: 120,574,714 (GRCm39) |
S117P |
probably damaging |
Het |
Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,950,227 (GRCm39) |
H1400R |
probably damaging |
Het |
Kiss1r |
C |
A |
10: 79,754,596 (GRCm39) |
S30* |
probably null |
Het |
Krt222 |
T |
A |
11: 99,134,796 (GRCm39) |
|
probably benign |
Het |
Lekr1 |
A |
T |
3: 65,727,215 (GRCm39) |
|
noncoding transcript |
Het |
Ltn1 |
A |
G |
16: 87,224,628 (GRCm39) |
V32A |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,020 (GRCm39) |
W21R |
probably benign |
Het |
Marchf5 |
A |
G |
19: 37,188,207 (GRCm39) |
N58S |
possibly damaging |
Het |
Mast4 |
G |
A |
13: 102,875,391 (GRCm39) |
Q1158* |
probably null |
Het |
Mib2 |
C |
G |
4: 155,741,233 (GRCm39) |
A535P |
probably damaging |
Het |
Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
Msc |
C |
T |
1: 14,824,537 (GRCm39) |
V178M |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Muc5b |
A |
T |
7: 141,412,999 (GRCm39) |
T1982S |
unknown |
Het |
Mvk |
A |
T |
5: 114,591,013 (GRCm39) |
|
probably benign |
Het |
Myo1a |
T |
C |
10: 127,543,288 (GRCm39) |
|
probably null |
Het |
Myo6 |
T |
G |
9: 80,195,290 (GRCm39) |
S887A |
probably benign |
Het |
Myo7a |
G |
A |
7: 97,722,425 (GRCm39) |
Q1167* |
probably null |
Het |
Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
Nmnat1 |
C |
A |
4: 149,553,595 (GRCm39) |
M172I |
probably benign |
Het |
Nudt1 |
G |
T |
5: 140,317,662 (GRCm39) |
|
probably null |
Het |
Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
Or1m1 |
T |
C |
9: 18,666,118 (GRCm39) |
E271G |
possibly damaging |
Het |
Or4e1 |
T |
A |
14: 52,701,032 (GRCm39) |
M118L |
probably damaging |
Het |
Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
Parp14 |
A |
T |
16: 35,655,077 (GRCm39) |
I1798K |
probably damaging |
Het |
Pcdhga7 |
A |
G |
18: 37,849,025 (GRCm39) |
D344G |
probably damaging |
Het |
Pck1 |
A |
G |
2: 172,998,770 (GRCm39) |
T343A |
probably benign |
Het |
Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
Pilra |
A |
G |
5: 137,833,674 (GRCm39) |
F131L |
probably damaging |
Het |
Prmt2 |
C |
T |
10: 76,058,390 (GRCm39) |
V140I |
probably damaging |
Het |
Prpf38b |
A |
G |
3: 108,818,484 (GRCm39) |
F92S |
probably damaging |
Het |
Psmc3 |
A |
G |
2: 90,884,915 (GRCm39) |
|
probably benign |
Het |
Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
Rgs9 |
C |
A |
11: 109,118,157 (GRCm39) |
A332S |
probably benign |
Het |
Rptor |
T |
C |
11: 119,787,305 (GRCm39) |
I1290T |
possibly damaging |
Het |
Slc38a7 |
C |
A |
8: 96,568,278 (GRCm39) |
R369L |
probably damaging |
Het |
Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
Slco2a1 |
G |
T |
9: 102,923,925 (GRCm39) |
L46F |
probably damaging |
Het |
Snrpd3 |
G |
T |
10: 75,355,227 (GRCm39) |
C20F |
possibly damaging |
Het |
Stab2 |
A |
T |
10: 86,699,422 (GRCm39) |
I481N |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,176 (GRCm39) |
E143G |
probably damaging |
Het |
Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
Tg |
A |
C |
15: 66,607,101 (GRCm39) |
M213L |
probably benign |
Het |
Tnc |
A |
G |
4: 63,938,648 (GRCm39) |
C64R |
probably damaging |
Het |
Tpd52l1 |
A |
G |
10: 31,233,916 (GRCm39) |
L79S |
probably damaging |
Het |
Tpp2 |
C |
A |
1: 43,993,896 (GRCm39) |
S260R |
possibly damaging |
Het |
Tppp2 |
G |
A |
14: 52,157,912 (GRCm39) |
R119Q |
probably benign |
Het |
Tshz2 |
A |
T |
2: 169,804,493 (GRCm39) |
|
probably benign |
Het |
Tuba8 |
T |
C |
6: 121,199,862 (GRCm39) |
V182A |
probably damaging |
Het |
Ufl1 |
A |
G |
4: 25,254,780 (GRCm39) |
Y559H |
probably benign |
Het |
Usp53 |
A |
T |
3: 122,727,595 (GRCm39) |
S996T |
probably benign |
Het |
Vcam1 |
A |
G |
3: 115,918,037 (GRCm39) |
V308A |
probably damaging |
Het |
Wdr17 |
T |
A |
8: 55,143,271 (GRCm39) |
|
probably null |
Het |
Wdr6 |
G |
A |
9: 108,451,565 (GRCm39) |
H773Y |
probably damaging |
Het |
Wnk4 |
T |
G |
11: 101,152,014 (GRCm39) |
F173V |
probably damaging |
Het |
Xrcc5 |
T |
C |
1: 72,378,188 (GRCm39) |
Y395H |
probably damaging |
Het |
Zcwpw1 |
T |
A |
5: 137,793,781 (GRCm39) |
M1K |
probably null |
Het |
Zfp263 |
A |
G |
16: 3,564,704 (GRCm39) |
R240G |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,640,890 (GRCm39) |
I272V |
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 |
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 |
|
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 |
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'- TGGATCTCCTGCTTCAGCTG -3'
(R):5'- GAGAAGTCAATGACCTCACCCG -3'
Sequencing Primer
(F):5'- GCTGGTAAATCTCTAGGTCACAC -3'
(R):5'- TCACCCGCCAGTATGAGGAC -3'
|
Posted On |
2016-06-06 |