Incidental Mutation 'R4828:Ppl'
| ID |
372620 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
042444-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4922790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 234
(R234C)
|
| 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: R234C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: R234C
| 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 |
0.2050 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (106/108) |
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Adat3 |
T |
C |
10: 80,442,881 (GRCm39) |
S240P |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
| Alg2 |
A |
G |
4: 47,471,563 (GRCm39) |
V415A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,482,184 (GRCm39) |
E141G |
probably benign |
Het |
| Ampd1 |
A |
C |
3: 102,988,413 (GRCm39) |
T115P |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,632 (GRCm39) |
L1267P |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,441 (GRCm39) |
S315R |
probably damaging |
Het |
| Atp10d |
A |
C |
5: 72,396,461 (GRCm39) |
D222A |
probably benign |
Het |
| B9d1 |
A |
G |
11: 61,398,461 (GRCm39) |
E47G |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,785,968 (GRCm39) |
D118G |
probably damaging |
Het |
| Bnip3l |
G |
T |
14: 67,246,208 (GRCm39) |
P9Q |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,807 (GRCm39) |
N287S |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,465 (GRCm39) |
D189G |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,413,210 (GRCm39) |
K583E |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,700,315 (GRCm39) |
N144I |
probably damaging |
Het |
| Chrnd |
A |
G |
1: 87,119,293 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
G |
T |
3: 144,550,273 (GRCm39) |
T224K |
probably benign |
Het |
| Crcp |
A |
G |
5: 130,088,603 (GRCm39) |
T119A |
probably damaging |
Het |
| Cul2 |
T |
C |
18: 3,431,013 (GRCm39) |
Y596H |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,610,715 (GRCm39) |
W356R |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,317,400 (GRCm39) |
Q425L |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,167,272 (GRCm39) |
V588D |
possibly damaging |
Het |
| Dock4 |
G |
T |
12: 40,718,436 (GRCm39) |
G245W |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,341,273 (GRCm39) |
I160T |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,361,875 (GRCm39) |
T102A |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,844,229 (GRCm39) |
L425* |
probably null |
Het |
| Elac2 |
A |
G |
11: 64,886,153 (GRCm39) |
E477G |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,112 (GRCm39) |
T316I |
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,777 (GRCm39) |
V694A |
probably benign |
Het |
| Fgg |
G |
A |
3: 82,915,677 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,919,238 (GRCm38) |
V1664I |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,166 (GRCm39) |
D1932N |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,409 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
G |
A |
5: 18,496,470 (GRCm39) |
S151L |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,499,059 (GRCm39) |
R67H |
possibly damaging |
Het |
| Grk5 |
T |
A |
19: 60,976,213 (GRCm39) |
C42* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,404,625 (GRCm39) |
|
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,179 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Il11 |
A |
G |
7: 4,779,481 (GRCm39) |
V8A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,408,635 (GRCm39) |
P402L |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,531,140 (GRCm39) |
N2S |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,348,929 (GRCm39) |
Y606H |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,220,934 (GRCm39) |
R650C |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,259,765 (GRCm39) |
E111G |
possibly damaging |
Het |
| Lrrc36 |
T |
A |
8: 106,181,862 (GRCm39) |
S388T |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,267,950 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
G |
2: 14,275,017 (GRCm39) |
D439E |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,789,034 (GRCm39) |
E444D |
probably damaging |
Het |
| Nrm |
G |
A |
17: 36,175,082 (GRCm39) |
V137I |
possibly damaging |
Het |
| Nxpe5 |
T |
A |
5: 138,228,795 (GRCm39) |
L4Q |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,977,496 (GRCm39) |
V2052A |
possibly damaging |
Het |
| Oc90 |
A |
T |
15: 65,753,408 (GRCm39) |
Y304N |
probably damaging |
Het |
| Or13f5 |
T |
C |
4: 52,826,138 (GRCm39) |
V247A |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,180 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Or5p1 |
T |
C |
7: 107,916,677 (GRCm39) |
V192A |
probably benign |
Het |
| Or8b101 |
T |
C |
9: 38,020,036 (GRCm39) |
I13T |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,877 (GRCm39) |
H59L |
possibly damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,281 (GRCm39) |
I52N |
probably benign |
Het |
| Pdgfrb |
C |
A |
18: 61,206,315 (GRCm39) |
R608S |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,590,634 (GRCm39) |
C47R |
probably damaging |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,801 (GRCm39) |
E1712G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,757,943 (GRCm39) |
I1958T |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,069,092 (GRCm39) |
R1073Q |
probably benign |
Het |
| Pld5 |
A |
C |
1: 176,102,433 (GRCm39) |
I3S |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,943,385 (GRCm39) |
W1207R |
possibly damaging |
Het |
| Polr2m |
T |
G |
9: 71,391,050 (GRCm39) |
I51L |
possibly damaging |
Het |
| Ppp1r42 |
C |
T |
1: 10,069,636 (GRCm39) |
R142H |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,224 (GRCm39) |
V387A |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,108 (GRCm39) |
Y320* |
probably null |
Het |
| Ptprk |
A |
T |
10: 28,436,050 (GRCm39) |
M804L |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,710,823 (GRCm39) |
S147G |
probably benign |
Het |
| Rgs7bp |
T |
C |
13: 105,189,532 (GRCm39) |
H89R |
possibly damaging |
Het |
| Rilpl2 |
G |
T |
5: 124,607,875 (GRCm39) |
T115K |
possibly damaging |
Het |
| Rnf212 |
G |
A |
5: 108,877,334 (GRCm39) |
S153F |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,455 (GRCm39) |
D705G |
possibly damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,611,426 (GRCm39) |
N379S |
probably benign |
Het |
| Sema3e |
G |
A |
5: 14,276,654 (GRCm39) |
V312M |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,985,566 (GRCm39) |
L338Q |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,384,402 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
G |
T |
18: 76,948,113 (GRCm39) |
G612C |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,636 (GRCm39) |
Y24C |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,688,053 (GRCm39) |
Y312* |
probably null |
Het |
| Slc5a7 |
A |
T |
17: 54,583,827 (GRCm39) |
F488I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,053,527 (GRCm39) |
D130G |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,194,652 (GRCm39) |
|
probably benign |
Het |
| Tmem91 |
T |
G |
7: 25,368,803 (GRCm39) |
T161P |
probably damaging |
Het |
| Tpd52l1 |
G |
A |
10: 31,222,697 (GRCm39) |
T99M |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,073 (GRCm39) |
*1036Q |
probably null |
Het |
| Tshr |
A |
T |
12: 91,504,564 (GRCm39) |
T501S |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,721,987 (GRCm39) |
N15S |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,608,127 (GRCm39) |
S669P |
possibly damaging |
Het |
| Zfp970 |
A |
G |
2: 177,167,146 (GRCm39) |
E240G |
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 |
|
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 |
|
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'- GTCAGCAGTTGGTCACCTTC -3'
(R):5'- ACCTGGCTGGGAAGTAACAG -3'
Sequencing Primer
(F):5'- CACCTTCAGTGTGCAGTTTG -3'
(R):5'- CTGGGAAGTAACAGAGTGGACACTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation