Incidental Mutation 'RF009:Ppl'
| ID |
603087 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4915795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 589
(E589D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035672]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035672
AA Change: E589D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: E589D
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
96% (53/55) |
| 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 |
|---|
| 6030445D17Rik |
ACACACACCCGC |
AC |
4: 136,189,661 (GRCm39) |
|
probably null |
Het |
| AI182371 |
A |
G |
2: 34,979,209 (GRCm39) |
V153A |
possibly damaging |
Het |
| AI837181 |
CGG |
CGGTGG |
19: 5,475,262 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GCGGCG |
GCGGCGTCGGCG |
18: 36,693,975 (GRCm39) |
|
probably benign |
Het |
| Apoc2 |
C |
T |
7: 19,405,767 (GRCm39) |
M71I |
probably benign |
Het |
| Arhgap17 |
CTGTTGTTG |
CTGTTG |
7: 122,886,085 (GRCm39) |
|
probably benign |
Het |
| Atrn |
C |
A |
2: 130,748,842 (GRCm39) |
T121K |
probably benign |
Het |
| Btnl12 |
T |
C |
16: 37,674,841 (GRCm39) |
D207G |
probably benign |
Het |
| Ccdc170 |
C |
CCAG |
10: 4,511,030 (GRCm39) |
|
probably benign |
Het |
| Cckbr |
GCA |
G |
7: 105,083,893 (GRCm39) |
|
probably null |
Het |
| Cdk13 |
T |
C |
13: 17,978,329 (GRCm39) |
D303G |
unknown |
Het |
| Cfap65 |
C |
A |
1: 74,944,806 (GRCm39) |
R1477L |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,169,410 (GRCm39) |
S37P |
possibly damaging |
Het |
| Chga |
AGC |
AGCCGC |
12: 102,527,679 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
T |
C |
15: 78,176,127 (GRCm39) |
I259V |
probably benign |
Het |
| Csnk1d |
A |
T |
11: 120,862,453 (GRCm39) |
N275K |
possibly damaging |
Het |
| Dmxl1 |
A |
C |
18: 50,026,461 (GRCm39) |
R1856S |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,204,165 (GRCm39) |
V14A |
probably benign |
Het |
| Edc4 |
G |
A |
8: 106,615,812 (GRCm39) |
S729N |
probably benign |
Het |
| Emilin3 |
T |
C |
2: 160,751,012 (GRCm39) |
S246G |
probably benign |
Het |
| Epc2 |
T |
G |
2: 49,422,249 (GRCm39) |
|
probably null |
Het |
| Exoc6 |
T |
A |
19: 37,560,068 (GRCm39) |
F101I |
probably benign |
Het |
| Fam171b |
GCAGCA |
GCAGCACCAGCA |
2: 83,643,224 (GRCm39) |
|
probably benign |
Het |
| Fam81b |
CTGTT |
CTGTTGTT |
13: 76,419,435 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT |
17: 23,981,135 (GRCm39) |
|
probably null |
Het |
| Gab3 |
TTC |
TTCCTC |
X: 74,043,598 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
CTT |
CTTATT |
X: 74,043,630 (GRCm39) |
|
probably null |
Het |
| Gabpa |
C |
A |
16: 84,641,224 (GRCm39) |
Q93K |
probably benign |
Het |
| Gabre |
GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC |
GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC |
X: 71,314,318 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GGCTCA |
GGCTCAAGCTCA |
X: 71,314,319 (GRCm39) |
|
probably benign |
Het |
| H2-T3 |
TCCCGAAGAAC |
TC |
17: 36,500,294 (GRCm39) |
|
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,047,859 (GRCm39) |
D138G |
probably damaging |
Het |
| Ifi207 |
G |
A |
1: 173,556,558 (GRCm39) |
P727S |
probably benign |
Het |
| Ifna13 |
T |
A |
4: 88,562,145 (GRCm39) |
S160C |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 53,285,267 (GRCm39) |
R1079H |
probably benign |
Het |
| Klri2 |
GGAG |
GG |
6: 129,710,737 (GRCm39) |
|
probably null |
Het |
| Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TTGGTGGTGCTGGTGG |
TTGGTGG |
14: 75,185,014 (GRCm39) |
|
probably benign |
Het |
| Lrch4 |
A |
G |
5: 137,635,805 (GRCm39) |
|
probably null |
Het |
| Lrrc2 |
TTGATTCGGTTCACC |
T |
9: 110,810,744 (GRCm39) |
|
probably null |
Het |
| Map1a |
GCTCCAGC |
GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC |
2: 121,136,782 (GRCm39) |
|
probably benign |
Het |
| Mettl25 |
T |
C |
10: 105,669,100 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
G |
7: 82,516,968 (GRCm39) |
D37G |
probably damaging |
Het |
| Mon1a |
T |
A |
9: 107,778,433 (GRCm39) |
V219E |
probably damaging |
Het |
| Myh3 |
TTACG |
TTACGTACG |
11: 66,977,183 (GRCm39) |
|
probably null |
Het |
| Myh3 |
GATTA |
GATTAATTA |
11: 66,977,181 (GRCm39) |
|
probably null |
Het |
| Myh3 |
ATTAC |
ATTACTTAC |
11: 66,977,182 (GRCm39) |
|
probably null |
Het |
| Myo5b |
T |
A |
18: 74,777,070 (GRCm39) |
C377S |
probably damaging |
Het |
| Nefh |
ACTTGGCCTCAGCTGGGG |
ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG |
11: 4,890,997 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
C |
1: 170,146,150 (GRCm39) |
D468G |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,342,684 (GRCm39) |
|
probably null |
Het |
| Oog2 |
T |
C |
4: 143,921,855 (GRCm39) |
V255A |
probably benign |
Het |
| Or5ac15 |
T |
A |
16: 58,940,274 (GRCm39) |
H53L |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,959,043 (GRCm39) |
H175L |
probably damaging |
Het |
| Pdgfd |
C |
A |
9: 6,288,624 (GRCm39) |
L93M |
probably damaging |
Het |
| Pgls |
G |
T |
8: 72,045,107 (GRCm39) |
V83L |
probably damaging |
Het |
| Pigw |
C |
A |
11: 84,767,987 (GRCm39) |
Q447H |
probably damaging |
Het |
| Pnma8a |
TCATGATGCACCTGCTTCAACATC |
TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC |
7: 16,695,352 (GRCm39) |
|
probably benign |
Het |
| Poc1a |
C |
A |
9: 106,172,417 (GRCm39) |
L253M |
possibly damaging |
Het |
| Prkar1b |
A |
G |
5: 139,094,376 (GRCm39) |
S71P |
probably benign |
Het |
| Prx |
T |
C |
7: 27,218,385 (GRCm39) |
F1101S |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,736,598 (GRCm39) |
V26A |
probably benign |
Het |
| Scube3 |
T |
A |
17: 28,387,371 (GRCm39) |
L923Q |
probably damaging |
Het |
| Setd2 |
C |
T |
9: 110,379,779 (GRCm39) |
P1198L |
probably damaging |
Het |
| Shank2 |
C |
A |
7: 143,965,308 (GRCm39) |
A972E |
possibly damaging |
Het |
| Slc10a6 |
A |
G |
5: 103,756,858 (GRCm39) |
L302P |
probably damaging |
Het |
| Slc29a3 |
C |
T |
10: 60,586,340 (GRCm39) |
G42D |
probably benign |
Het |
| Spart |
T |
C |
3: 55,035,027 (GRCm39) |
V471A |
probably benign |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,436,919 (GRCm39) |
Y1284* |
probably null |
Het |
| Supt20 |
AGCAGC |
AGCAGCCGCAGC |
3: 54,635,083 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
GCA |
GCACCA |
18: 60,968,815 (GRCm39) |
|
probably benign |
Het |
| Tff1 |
CTTCCTG |
C |
17: 31,383,901 (GRCm39) |
|
probably benign |
Het |
| Tmprss13 |
ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC |
9: 45,239,762 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,081 (GRCm39) |
W341R |
probably damaging |
Het |
| Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,136 (GRCm39) |
|
probably benign |
Het |
| Trav8d-1 |
T |
A |
14: 53,016,207 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ttc23 |
A |
T |
7: 67,375,777 (GRCm39) |
I452F |
possibly damaging |
Het |
| Uimc1 |
T |
C |
13: 55,198,598 (GRCm39) |
E526G |
possibly damaging |
Het |
| Ulbp1 |
T |
A |
10: 7,397,405 (GRCm39) |
K233N |
unknown |
Het |
| Usp17ld |
A |
T |
7: 102,899,495 (GRCm39) |
V479E |
probably damaging |
Het |
| Utrn |
T |
TGTTACCC |
10: 12,509,689 (GRCm39) |
|
probably null |
Het |
| Vmn1r9 |
C |
T |
6: 57,048,465 (GRCm39) |
S180L |
probably benign |
Het |
| Wdr97 |
GAGGAGGA |
G |
15: 76,247,367 (GRCm39) |
|
probably null |
Het |
| Zfp598 |
CACC |
CACCCCTACC |
17: 24,899,761 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ATCAGCCTGTTCTCGTATGAGG -3'
(R):5'- CCTTGACGGAAGAGAGCTGTAG -3'
Sequencing Primer
(F):5'- TTCTCGTATGAGGCCAGCAG -3'
(R):5'- AGGGCTGTGGTTGACCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation