Incidental Mutation 'R4583:Ppl'
| ID |
343864 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
041804-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4583 (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 4922400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 294
(E294G)
|
| 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: E294G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: E294G
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 119 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
C |
7: 27,274,017 (GRCm39) |
L86P |
unknown |
Het |
| Aimp1 |
C |
T |
3: 132,382,808 (GRCm39) |
E23K |
probably damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,288,605 (GRCm39) |
N884I |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,431,423 (GRCm39) |
Q65K |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,611,996 (GRCm39) |
D93E |
probably benign |
Het |
| Arhgef12 |
G |
T |
9: 42,888,958 (GRCm39) |
T1085K |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,356,745 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,531,280 (GRCm39) |
|
probably null |
Het |
| Baz1a |
T |
C |
12: 54,969,325 (GRCm39) |
I635V |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Cckar |
T |
A |
5: 53,857,124 (GRCm39) |
M429L |
probably benign |
Het |
| Ccl3 |
A |
T |
11: 83,539,164 (GRCm39) |
L65Q |
probably benign |
Het |
| Ccr3 |
A |
G |
9: 123,829,477 (GRCm39) |
T271A |
probably benign |
Het |
| Cd8b1 |
T |
A |
6: 71,303,081 (GRCm39) |
I52N |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 123,591,767 (GRCm39) |
E551K |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,466 (GRCm39) |
K719R |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,825,655 (GRCm39) |
R38G |
probably null |
Het |
| Chd6 |
T |
C |
2: 160,856,114 (GRCm39) |
E715G |
probably damaging |
Het |
| Cldn34b2 |
T |
A |
X: 153,908,625 (GRCm39) |
R68* |
probably null |
Het |
| Col19a1 |
T |
G |
1: 24,600,410 (GRCm39) |
D44A |
unknown |
Het |
| Colgalt2 |
C |
T |
1: 152,382,627 (GRCm39) |
S493F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 194,812,139 (GRCm39) |
I99M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,873,616 (GRCm39) |
E1164G |
probably damaging |
Het |
| Cym |
G |
T |
3: 107,118,718 (GRCm39) |
D367E |
probably damaging |
Het |
| Dennd2a |
G |
T |
6: 39,499,776 (GRCm39) |
T263K |
probably damaging |
Het |
| Dhx9 |
T |
A |
1: 153,336,049 (GRCm39) |
M869L |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,415,742 (GRCm39) |
H692R |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,298,031 (GRCm39) |
S697T |
probably damaging |
Het |
| F12 |
G |
A |
13: 55,568,943 (GRCm39) |
T273I |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,604,617 (GRCm39) |
L124Q |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,991 (GRCm39) |
V622A |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,249,356 (GRCm39) |
N159K |
possibly damaging |
Het |
| Fgd2 |
C |
A |
17: 29,586,052 (GRCm39) |
T212K |
possibly damaging |
Het |
| Fhl3 |
T |
A |
4: 124,601,342 (GRCm39) |
D178E |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,723,091 (GRCm39) |
A1176D |
possibly damaging |
Het |
| Fndc1 |
T |
C |
17: 7,958,081 (GRCm39) |
Y1722C |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 81,340,143 (GRCm39) |
V812A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,809,017 (GRCm39) |
I1779V |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,798 (GRCm39) |
V585I |
probably benign |
Het |
| Gm15056 |
C |
G |
8: 21,390,697 (GRCm39) |
S80T |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,790,715 (GRCm39) |
E31G |
probably benign |
Het |
| Gmfg |
A |
G |
7: 28,145,369 (GRCm39) |
Y71C |
probably damaging |
Het |
| Grk1 |
A |
G |
8: 13,459,322 (GRCm39) |
E291G |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,600,152 (GRCm39) |
E393G |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,472,071 (GRCm39) |
D2G |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,918,189 (GRCm39) |
V698E |
probably benign |
Het |
| Helz |
G |
A |
11: 107,536,895 (GRCm39) |
R249H |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,303,277 (GRCm39) |
I2973V |
possibly damaging |
Het |
| Hnrnpa3 |
A |
G |
2: 75,493,950 (GRCm39) |
R286G |
probably benign |
Het |
| Hus1b |
A |
T |
13: 31,131,501 (GRCm39) |
W53R |
probably damaging |
Het |
| Hydin |
C |
T |
8: 111,321,857 (GRCm39) |
T4503I |
probably benign |
Het |
| Ighmbp2 |
G |
C |
19: 3,315,324 (GRCm39) |
P699A |
probably benign |
Het |
| Igkv1-122 |
A |
T |
6: 67,994,442 (GRCm39) |
Y110F |
probably benign |
Het |
| Igkv8-28 |
T |
C |
6: 70,120,604 (GRCm39) |
Y113C |
probably damaging |
Het |
| Iigp1c |
T |
C |
18: 60,379,152 (GRCm39) |
I229T |
possibly damaging |
Het |
| Il16 |
A |
G |
7: 83,332,107 (GRCm39) |
S158P |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,055,637 (GRCm39) |
H876L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 914,134 (GRCm39) |
L357H |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,855,055 (GRCm39) |
T919A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,569,107 (GRCm39) |
C594R |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,890,931 (GRCm39) |
L474* |
probably null |
Het |
| Lgals3 |
A |
T |
14: 47,619,144 (GRCm39) |
|
probably null |
Het |
| Lnx1 |
C |
T |
5: 74,771,457 (GRCm39) |
V350I |
probably benign |
Het |
| Lpcat3 |
T |
G |
6: 124,680,286 (GRCm39) |
W429G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,377,241 (GRCm39) |
T4149A |
probably benign |
Het |
| Memo1 |
G |
A |
17: 74,565,456 (GRCm39) |
Q36* |
probably null |
Het |
| Mical2 |
A |
G |
7: 112,012,154 (GRCm39) |
N668S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,945,553 (GRCm39) |
I76N |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,136,329 (GRCm39) |
L362V |
possibly damaging |
Het |
| Myh3 |
T |
A |
11: 66,987,279 (GRCm39) |
Y1376* |
probably null |
Het |
| Mymk |
C |
A |
2: 26,952,292 (GRCm39) |
V192F |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,562,688 (GRCm39) |
D966G |
possibly damaging |
Het |
| Ncam2 |
A |
G |
16: 81,314,445 (GRCm39) |
N474D |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,553,608 (GRCm39) |
N168S |
possibly damaging |
Het |
| Nmur1 |
C |
T |
1: 86,314,367 (GRCm39) |
V323M |
possibly damaging |
Het |
| Npr2 |
C |
A |
4: 43,633,522 (GRCm39) |
|
probably null |
Het |
| Nsd3 |
T |
A |
8: 26,200,703 (GRCm39) |
M1265K |
probably benign |
Het |
| Or13c7 |
A |
G |
4: 43,855,262 (GRCm39) |
T318A |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,629 (GRCm39) |
T190A |
probably damaging |
Het |
| Or1j16 |
A |
C |
2: 36,530,626 (GRCm39) |
T192P |
probably damaging |
Het |
| Or4c107 |
T |
A |
2: 88,789,556 (GRCm39) |
F249I |
probably damaging |
Het |
| Or4c11 |
G |
T |
2: 88,695,838 (GRCm39) |
M296I |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,062 (GRCm39) |
F10L |
probably damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,565 (GRCm39) |
V227A |
possibly damaging |
Het |
| Or6c216 |
T |
C |
10: 129,678,344 (GRCm39) |
D189G |
probably damaging |
Het |
| Otub1 |
G |
A |
19: 7,181,801 (GRCm39) |
A25V |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,256,069 (GRCm39) |
R102* |
probably null |
Het |
| Patl2 |
A |
G |
2: 121,957,226 (GRCm39) |
S103P |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,608,628 (GRCm39) |
H620L |
possibly damaging |
Het |
| Pdgfc |
A |
T |
3: 81,048,835 (GRCm39) |
D81V |
possibly damaging |
Het |
| Pdia2 |
T |
C |
17: 26,415,476 (GRCm39) |
D447G |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,188,337 (GRCm39) |
A514S |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,015,691 (GRCm39) |
T552I |
probably benign |
Het |
| Pramel12 |
A |
G |
4: 143,143,324 (GRCm39) |
Y30C |
probably damaging |
Het |
| Prkcb |
A |
G |
7: 122,056,447 (GRCm39) |
S100G |
probably benign |
Het |
| Psg16 |
T |
G |
7: 16,829,097 (GRCm39) |
I227S |
probably benign |
Het |
| Rbbp6 |
AAAGAAGAAGAAGAAGAAG |
AAAGAAGAAGAAGAAG |
7: 122,601,175 (GRCm39) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,931,062 (GRCm39) |
|
probably null |
Het |
| Rrbp1 |
C |
T |
2: 143,830,671 (GRCm39) |
G499S |
probably benign |
Het |
| Sema6d |
G |
T |
2: 124,506,082 (GRCm39) |
R630L |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,900,882 (GRCm39) |
V94A |
possibly damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,146 (GRCm39) |
Q324L |
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,289,266 (GRCm39) |
L80Q |
probably damaging |
Het |
| Slc7a10 |
G |
T |
7: 34,897,377 (GRCm39) |
|
probably null |
Het |
| Srrm2 |
C |
T |
17: 24,038,593 (GRCm39) |
|
probably benign |
Het |
| Stk38 |
T |
G |
17: 29,201,130 (GRCm39) |
D182A |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,662,398 (GRCm39) |
G104S |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,469,055 (GRCm39) |
E554G |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 155,940,888 (GRCm39) |
H398R |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,083,673 (GRCm39) |
V83I |
probably benign |
Het |
| Ube3a |
C |
T |
7: 58,935,811 (GRCm39) |
T565I |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,108,164 (GRCm39) |
V56A |
possibly damaging |
Het |
| Vmn1r128 |
T |
C |
7: 21,083,644 (GRCm39) |
V116A |
possibly damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,306,087 (GRCm39) |
T163I |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 85,813,290 (GRCm39) |
D504V |
possibly damaging |
Het |
| Vps36 |
G |
A |
8: 22,708,436 (GRCm39) |
M363I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,708,661 (GRCm39) |
S71P |
probably damaging |
Het |
| Zdhhc12 |
A |
G |
2: 29,981,496 (GRCm39) |
F189L |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,977,387 (GRCm39) |
M1009V |
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 |
|
|
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'- GTTAATGTAACAAATGGGTCAGTGG -3'
(R):5'- AAGGTGACCAACTGCTGAC -3'
Sequencing Primer
(F):5'- TAGCACAATGACCTGAGTTGAGTCC -3'
(R):5'- TGCTGACAGCTGAGCAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation