Incidental Mutation 'R1863:Ppl'
| ID |
204163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
039886-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4905844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1484
(K1484E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000035672
AA Change: K1484E
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: K1484E
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.0%
- 20x: 90.8%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,527,746 (GRCm39) |
S1015T |
probably damaging |
Het |
| Adamts10 |
T |
A |
17: 33,770,406 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
G |
A |
13: 81,711,685 (GRCm39) |
T1097I |
probably damaging |
Het |
| Apeh |
T |
C |
9: 107,969,302 (GRCm39) |
Y274C |
possibly damaging |
Het |
| Apobec3 |
A |
G |
15: 79,782,068 (GRCm39) |
D26G |
possibly damaging |
Het |
| Arg2 |
C |
T |
12: 79,196,794 (GRCm39) |
Q172* |
probably null |
Het |
| Asb18 |
C |
T |
1: 89,942,104 (GRCm39) |
V66I |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,243,132 (GRCm39) |
G430S |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,449,802 (GRCm38) |
S1136P |
possibly damaging |
Het |
| Cadps |
A |
G |
14: 12,505,796 (GRCm38) |
V758A |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,539 (GRCm39) |
W185R |
probably damaging |
Het |
| Car5b |
T |
C |
X: 162,774,369 (GRCm39) |
D146G |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Cd300lg |
T |
G |
11: 101,932,430 (GRCm39) |
V5G |
probably damaging |
Het |
| Cd46 |
C |
A |
1: 194,765,931 (GRCm39) |
G145C |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,988 (GRCm39) |
S433P |
probably damaging |
Het |
| Cntrl |
G |
A |
2: 35,008,131 (GRCm39) |
E182K |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,817,400 (GRCm39) |
M304L |
unknown |
Het |
| Cplane1 |
A |
G |
15: 8,258,077 (GRCm39) |
I2108V |
probably benign |
Het |
| Cpxm2 |
C |
T |
7: 131,745,392 (GRCm39) |
|
probably null |
Het |
| Dbf4 |
G |
A |
5: 8,447,375 (GRCm39) |
Q612* |
probably null |
Het |
| Dnah11 |
G |
C |
12: 118,027,587 (GRCm39) |
Q1835E |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,767,882 (GRCm39) |
N1140K |
probably benign |
Het |
| Eps8l1 |
C |
A |
7: 4,468,359 (GRCm39) |
|
probably benign |
Het |
| Fbxl21 |
A |
T |
13: 56,674,876 (GRCm39) |
I76L |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,014,577 (GRCm39) |
K249N |
possibly damaging |
Het |
| Gm5819 |
A |
G |
18: 8,694,179 (GRCm39) |
T35A |
probably benign |
Het |
| Gm8180 |
T |
C |
14: 44,021,139 (GRCm39) |
E23G |
probably benign |
Het |
| Gorab |
A |
G |
1: 163,231,131 (GRCm39) |
F8L |
probably damaging |
Het |
| Hlf |
A |
G |
11: 90,231,652 (GRCm39) |
L274S |
probably damaging |
Het |
| Il15ra |
T |
A |
2: 11,728,247 (GRCm39) |
S137T |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,004 (GRCm39) |
C936S |
possibly damaging |
Het |
| Lamb2 |
T |
C |
9: 108,358,583 (GRCm39) |
S207P |
probably benign |
Het |
| Lce1a1 |
T |
C |
3: 92,554,118 (GRCm39) |
S119G |
unknown |
Het |
| Lipo3 |
A |
G |
19: 33,762,092 (GRCm39) |
F135S |
probably damaging |
Het |
| Lrp4 |
T |
A |
2: 91,328,708 (GRCm39) |
L1536Q |
probably benign |
Het |
| Lrrc25 |
T |
C |
8: 71,070,596 (GRCm39) |
S126P |
possibly damaging |
Het |
| Mbd3l2 |
T |
C |
9: 18,356,217 (GRCm39) |
S181P |
possibly damaging |
Het |
| Msantd5f6 |
A |
T |
4: 73,320,037 (GRCm39) |
Y247* |
probably null |
Het |
| Mss51 |
C |
T |
14: 20,534,936 (GRCm39) |
R278H |
probably damaging |
Het |
| Myom3 |
G |
A |
4: 135,505,348 (GRCm39) |
M412I |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,573,611 (GRCm39) |
V780A |
probably benign |
Het |
| Naip6 |
A |
T |
13: 100,437,067 (GRCm39) |
F485L |
probably benign |
Het |
| Notch1 |
T |
C |
2: 26,359,962 (GRCm39) |
Y1251C |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,115,609 (GRCm39) |
N826D |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2t47 |
T |
C |
11: 58,442,849 (GRCm39) |
Y72C |
probably benign |
Het |
| Or4a74 |
A |
T |
2: 89,440,053 (GRCm39) |
L131* |
probably null |
Het |
| Or4c35 |
A |
T |
2: 89,808,754 (GRCm39) |
I211F |
probably benign |
Het |
| Or5p57 |
A |
C |
7: 107,665,932 (GRCm39) |
Y24* |
probably null |
Het |
| Or6c66 |
T |
C |
10: 129,461,217 (GRCm39) |
T238A |
probably damaging |
Het |
| Or8c8 |
T |
G |
9: 38,165,016 (GRCm39) |
M101R |
probably damaging |
Het |
| Or8s16 |
G |
T |
15: 98,211,372 (GRCm39) |
Q20K |
probably benign |
Het |
| Osbpl6 |
G |
A |
2: 76,415,402 (GRCm39) |
R588H |
probably damaging |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,164 (GRCm39) |
D318V |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,545,525 (GRCm39) |
E1162V |
probably damaging |
Het |
| Pde2a |
G |
A |
7: 101,160,361 (GRCm39) |
R845H |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,621,244 (GRCm39) |
R805S |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,321,675 (GRCm39) |
E120G |
probably benign |
Het |
| Prg4 |
T |
A |
1: 150,336,420 (GRCm39) |
D60V |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,249,967 (GRCm39) |
D42E |
possibly damaging |
Het |
| Rbm5 |
C |
T |
9: 107,627,718 (GRCm39) |
V408I |
possibly damaging |
Het |
| Rsrp1 |
G |
T |
4: 134,651,388 (GRCm39) |
D51Y |
unknown |
Het |
| Sec22a |
A |
G |
16: 35,168,088 (GRCm39) |
M141T |
probably damaging |
Het |
| Spryd3 |
A |
G |
15: 102,026,094 (GRCm39) |
S417P |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,713 (GRCm39) |
M550V |
possibly damaging |
Het |
| Sugt1 |
C |
T |
14: 79,846,434 (GRCm39) |
T157I |
probably damaging |
Het |
| Syne4 |
T |
C |
7: 30,016,308 (GRCm39) |
V168A |
probably benign |
Het |
| Tas2r122 |
A |
T |
6: 132,688,065 (GRCm39) |
L276* |
probably null |
Het |
| Tbc1d14 |
G |
A |
5: 36,665,037 (GRCm39) |
S231F |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,381 (GRCm39) |
I1526F |
probably benign |
Het |
| Tgm2 |
C |
T |
2: 157,966,139 (GRCm39) |
C505Y |
probably damaging |
Het |
| Thop1 |
T |
C |
10: 80,909,151 (GRCm39) |
Y61H |
probably damaging |
Het |
| Ticam1 |
G |
A |
17: 56,578,436 (GRCm39) |
H220Y |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,427,755 (GRCm39) |
D500G |
possibly damaging |
Het |
| Tm6sf2 |
T |
A |
8: 70,532,375 (GRCm39) |
L345Q |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,889,848 (GRCm39) |
C114R |
probably damaging |
Het |
| Topors |
G |
T |
4: 40,262,149 (GRCm39) |
C378* |
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,760,881 (GRCm39) |
G1544R |
probably benign |
Het |
| Vmn2r4 |
A |
T |
3: 64,314,410 (GRCm39) |
N190K |
probably benign |
Het |
| Wdr70 |
C |
A |
15: 7,950,054 (GRCm39) |
V447F |
probably benign |
Het |
| Xpa |
A |
G |
4: 46,155,730 (GRCm39) |
|
probably benign |
Het |
| Xrcc1 |
T |
C |
7: 24,270,000 (GRCm39) |
S474P |
possibly damaging |
Het |
| Zfp658 |
T |
G |
7: 43,223,323 (GRCm39) |
F533V |
possibly damaging |
Het |
| Zfp799 |
G |
A |
17: 33,038,374 (GRCm39) |
H631Y |
probably 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 |
|
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 |
|
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'- TAGCTCAGATAACTTGGCTTCTAGC -3'
(R):5'- AACTGCATGTGGAGCTACG -3'
Sequencing Primer
(F):5'- TAGCCGGGTCACCTCTGAATC -3'
(R):5'- TACGGCGGTTACAGCATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation