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 |
Genbank: NM_008909 |
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4583 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
5086291-5132421 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5104536 bp (GRCm38)
|
| 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: 27,574,592 (GRCm38) |
L86P |
unknown |
Het |
| Aimp1 |
C |
T |
3: 132,677,047 (GRCm38) |
E23K |
probably damaging |
Het |
| Ap2b1 |
A |
T |
11: 83,397,779 (GRCm38) |
N884I |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,697,498 (GRCm38) |
Q65K |
possibly damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,912,571 (GRCm38) |
D93E |
probably benign |
Het |
| Arhgef12 |
G |
T |
9: 42,977,662 (GRCm38) |
T1085K |
probably damaging |
Het |
| Arid5a |
T |
C |
1: 36,317,664 (GRCm38) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,689,360 (GRCm38) |
|
probably null |
Het |
| Baz1a |
T |
C |
12: 54,922,540 (GRCm38) |
I635V |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,301,134 (GRCm38) |
K703E |
probably benign |
Het |
| Cckar |
T |
A |
5: 53,699,782 (GRCm38) |
M429L |
probably benign |
Het |
| Ccl3 |
A |
T |
11: 83,648,338 (GRCm38) |
L65Q |
probably benign |
Het |
| Ccr3 |
A |
G |
9: 124,029,440 (GRCm38) |
T271A |
probably benign |
Het |
| Cd8b1 |
T |
A |
6: 71,326,097 (GRCm38) |
I52N |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,865,028 (GRCm38) |
E551K |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,466 (GRCm38) |
K719R |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,837,216 (GRCm38) |
R38G |
probably null |
Het |
| Chd6 |
T |
C |
2: 161,014,194 (GRCm38) |
E715G |
probably damaging |
Het |
| Cldn34b2 |
T |
A |
X: 155,125,629 (GRCm38) |
R68* |
probably null |
Het |
| Col19a1 |
T |
G |
1: 24,561,329 (GRCm38) |
D44A |
unknown |
Het |
| Colgalt2 |
C |
T |
1: 152,506,876 (GRCm38) |
S493F |
probably damaging |
Het |
| Cr1l |
T |
C |
1: 195,129,831 (GRCm38) |
I99M |
probably damaging |
Het |
| Crybg1 |
T |
C |
10: 43,997,620 (GRCm38) |
E1164G |
probably damaging |
Het |
| Cym |
G |
T |
3: 107,211,402 (GRCm38) |
D367E |
probably damaging |
Het |
| Dennd2a |
G |
T |
6: 39,522,842 (GRCm38) |
T263K |
probably damaging |
Het |
| Dhx9 |
T |
A |
1: 153,460,303 (GRCm38) |
M869L |
probably damaging |
Het |
| Dnm2 |
A |
G |
9: 21,504,446 (GRCm38) |
H692R |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,407,205 (GRCm38) |
S697T |
probably damaging |
Het |
| F12 |
G |
A |
13: 55,421,130 (GRCm38) |
T273I |
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,468,109 (GRCm38) |
L124Q |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,002,991 (GRCm38) |
V622A |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,164,899 (GRCm38) |
N159K |
possibly damaging |
Het |
| Fgd2 |
C |
A |
17: 29,367,078 (GRCm38) |
T212K |
possibly damaging |
Het |
| Fhl3 |
T |
A |
4: 124,707,549 (GRCm38) |
D178E |
probably benign |
Het |
| Filip1 |
G |
T |
9: 79,815,809 (GRCm38) |
A1176D |
possibly damaging |
Het |
| Fndc1 |
T |
C |
17: 7,739,249 (GRCm38) |
Y1722C |
probably damaging |
Het |
| Frem3 |
T |
C |
8: 80,613,514 (GRCm38) |
V812A |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,978,673 (GRCm38) |
I1779V |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,842,068 (GRCm38) |
V585I |
probably benign |
Het |
| Gm15056 |
C |
G |
8: 20,900,681 (GRCm38) |
S80T |
probably benign |
Het |
| Gm4951 |
T |
C |
18: 60,246,080 (GRCm38) |
I229T |
possibly damaging |
Het |
| Gm5145 |
A |
G |
17: 20,570,453 (GRCm38) |
E31G |
probably benign |
Het |
| Gmfg |
A |
G |
7: 28,445,944 (GRCm38) |
Y71C |
probably damaging |
Het |
| Grk1 |
A |
G |
8: 13,409,322 (GRCm38) |
E291G |
probably damaging |
Het |
| Gtpbp1 |
A |
G |
15: 79,715,951 (GRCm38) |
E393G |
possibly damaging |
Het |
| Gtpbp2 |
A |
G |
17: 46,161,145 (GRCm38) |
D2G |
probably damaging |
Het |
| Hc |
A |
T |
2: 35,028,177 (GRCm38) |
V698E |
probably benign |
Het |
| Helz |
G |
A |
11: 107,646,069 (GRCm38) |
R249H |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,413,265 (GRCm38) |
I2973V |
possibly damaging |
Het |
| Hnrnpa3 |
A |
G |
2: 75,663,606 (GRCm38) |
R286G |
probably benign |
Het |
| Hus1b |
A |
T |
13: 30,947,518 (GRCm38) |
W53R |
probably damaging |
Het |
| Hydin |
C |
T |
8: 110,595,225 (GRCm38) |
T4503I |
probably benign |
Het |
| Ighmbp2 |
G |
C |
19: 3,265,324 (GRCm38) |
P699A |
probably benign |
Het |
| Igkv1-122 |
A |
T |
6: 68,017,458 (GRCm38) |
Y110F |
probably benign |
Het |
| Igkv8-28 |
T |
C |
6: 70,143,620 (GRCm38) |
Y113C |
probably damaging |
Het |
| Il16 |
A |
G |
7: 83,682,899 (GRCm38) |
S158P |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,235,267 (GRCm38) |
H876L |
probably damaging |
Het |
| Kdm5d |
T |
A |
Y: 914,134 (GRCm38) |
L357H |
probably damaging |
Het |
| Krt78 |
T |
C |
15: 101,946,620 (GRCm38) |
T919A |
possibly damaging |
Het |
| L3mbtl2 |
T |
C |
15: 81,684,906 (GRCm38) |
C594R |
probably damaging |
Het |
| Lcorl |
A |
T |
5: 45,733,589 (GRCm38) |
L474* |
probably null |
Het |
| Lgals3 |
A |
T |
14: 47,381,687 (GRCm38) |
|
probably null |
Het |
| Lnx1 |
C |
T |
5: 74,610,796 (GRCm38) |
V350I |
probably benign |
Het |
| Lpcat3 |
T |
G |
6: 124,703,323 (GRCm38) |
W429G |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,541,372 (GRCm38) |
T4149A |
probably benign |
Het |
| Memo1 |
G |
A |
17: 74,258,461 (GRCm38) |
Q36* |
probably null |
Het |
| Micalcl |
A |
G |
7: 112,412,947 (GRCm38) |
N668S |
probably benign |
Het |
| Ms4a10 |
A |
T |
19: 10,968,189 (GRCm38) |
I76N |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,051,872 (GRCm38) |
L362V |
possibly damaging |
Het |
| Myh3 |
T |
A |
11: 67,096,453 (GRCm38) |
Y1376* |
probably null |
Het |
| Mymk |
C |
A |
2: 27,062,280 (GRCm38) |
V192F |
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,671,862 (GRCm38) |
D966G |
possibly damaging |
Het |
| Ncam2 |
A |
G |
16: 81,517,557 (GRCm38) |
N474D |
probably damaging |
Het |
| Nmnat1 |
T |
C |
4: 149,469,151 (GRCm38) |
N168S |
possibly damaging |
Het |
| Nmur1 |
C |
T |
1: 86,386,645 (GRCm38) |
V323M |
possibly damaging |
Het |
| Npr2 |
C |
A |
4: 43,633,522 (GRCm38) |
|
probably null |
Het |
| Nsd3 |
T |
A |
8: 25,710,676 (GRCm38) |
M1265K |
probably benign |
Het |
| Olfr1206 |
G |
T |
2: 88,865,494 (GRCm38) |
M296I |
probably benign |
Het |
| Olfr1212 |
T |
A |
2: 88,959,212 (GRCm38) |
F249I |
probably damaging |
Het |
| Olfr1462 |
T |
A |
19: 13,190,698 (GRCm38) |
F10L |
probably damaging |
Het |
| Olfr152 |
T |
C |
2: 87,783,221 (GRCm38) |
V227A |
possibly damaging |
Het |
| Olfr155 |
A |
G |
4: 43,855,262 (GRCm38) |
T318A |
probably benign |
Het |
| Olfr345 |
A |
C |
2: 36,640,614 (GRCm38) |
T192P |
probably damaging |
Het |
| Olfr394 |
T |
C |
11: 73,887,803 (GRCm38) |
T190A |
probably damaging |
Het |
| Olfr812 |
T |
C |
10: 129,842,475 (GRCm38) |
D189G |
probably damaging |
Het |
| Otub1 |
G |
A |
19: 7,204,436 (GRCm38) |
A25V |
possibly damaging |
Het |
| Paqr3 |
T |
A |
5: 97,108,210 (GRCm38) |
R102* |
probably null |
Het |
| Patl2 |
A |
G |
2: 122,126,745 (GRCm38) |
S103P |
probably benign |
Het |
| Pcdhb15 |
A |
T |
18: 37,475,575 (GRCm38) |
H620L |
possibly damaging |
Het |
| Pdgfc |
A |
T |
3: 81,141,528 (GRCm38) |
D81V |
possibly damaging |
Het |
| Pdia2 |
T |
C |
17: 26,196,502 (GRCm38) |
D447G |
probably damaging |
Het |
| Pold1 |
C |
A |
7: 44,538,913 (GRCm38) |
A514S |
probably damaging |
Het |
| Pomgnt1 |
C |
T |
4: 116,158,494 (GRCm38) |
T552I |
probably benign |
Het |
| Pramef8 |
A |
G |
4: 143,416,754 (GRCm38) |
Y30C |
probably damaging |
Het |
| Prkcb |
A |
G |
7: 122,457,224 (GRCm38) |
S100G |
probably benign |
Het |
| Psg16 |
T |
G |
7: 17,095,172 (GRCm38) |
I227S |
probably benign |
Het |
| Rbbp6 |
AAAGAAGAAGAAGAAGAAG |
AAAGAAGAAGAAGAAG |
7: 123,001,952 (GRCm38) |
|
probably benign |
Het |
| Reck |
T |
C |
4: 43,931,062 (GRCm38) |
|
probably null |
Het |
| Rrbp1 |
C |
T |
2: 143,988,751 (GRCm38) |
G499S |
probably benign |
Het |
| Sema6d |
G |
T |
2: 124,664,162 (GRCm38) |
R630L |
probably damaging |
Het |
| Slc29a1 |
A |
G |
17: 45,589,956 (GRCm38) |
V94A |
possibly damaging |
Het |
| Slc35a1 |
T |
A |
4: 34,664,146 (GRCm38) |
Q324L |
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,458,921 (GRCm38) |
L80Q |
probably damaging |
Het |
| Slc7a10 |
G |
T |
7: 35,197,952 (GRCm38) |
|
probably null |
Het |
| Srrm2 |
C |
T |
17: 23,819,619 (GRCm38) |
|
probably benign |
Het |
| Stk38 |
T |
G |
17: 28,982,156 (GRCm38) |
D182A |
probably damaging |
Het |
| Tas2r104 |
C |
T |
6: 131,685,435 (GRCm38) |
G104S |
probably benign |
Het |
| Tmem121b |
T |
C |
6: 120,492,094 (GRCm38) |
E554G |
probably damaging |
Het |
| Tor1aip2 |
A |
G |
1: 156,065,142 (GRCm38) |
H398R |
probably benign |
Het |
| Tram2 |
C |
T |
1: 21,013,449 (GRCm38) |
V83I |
probably benign |
Het |
| Ube3a |
C |
T |
7: 59,286,063 (GRCm38) |
T565I |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,380,853 (GRCm38) |
V56A |
possibly damaging |
Het |
| Vmn1r128 |
T |
C |
7: 21,349,719 (GRCm38) |
V116A |
possibly damaging |
Het |
| Vmn1r170 |
C |
T |
7: 23,606,662 (GRCm38) |
T163I |
probably benign |
Het |
| Vmn2r75 |
T |
A |
7: 86,164,082 (GRCm38) |
D504V |
possibly damaging |
Het |
| Vps36 |
G |
A |
8: 22,218,420 (GRCm38) |
M363I |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,878,317 (GRCm38) |
S71P |
probably damaging |
Het |
| Zdhhc12 |
A |
G |
2: 30,091,484 (GRCm38) |
F189L |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,844,330 (GRCm38) |
M1009V |
probably benign |
Het |
|
| Other mutations in Ppl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00231:Ppl
|
APN |
16 |
5,089,545 (GRCm38) |
missense |
probably benign |
0.41 |
|
IGL00484:Ppl
|
APN |
16 |
5,087,952 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL00654:Ppl
|
APN |
16 |
5,087,308 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00832:Ppl
|
APN |
16 |
5,088,975 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01104:Ppl
|
APN |
16 |
5,094,491 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01327:Ppl
|
APN |
16 |
5,087,644 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01644:Ppl
|
APN |
16 |
5,091,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01824:Ppl
|
APN |
16 |
5,087,889 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02071:Ppl
|
APN |
16 |
5,113,072 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02085:Ppl
|
APN |
16 |
5,089,816 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02282:Ppl
|
APN |
16 |
5,101,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02635:Ppl
|
APN |
16 |
5,089,767 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02649:Ppl
|
APN |
16 |
5,087,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02888:Ppl
|
APN |
16 |
5,100,407 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL03305:Ppl
|
APN |
16 |
5,093,233 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
G4846:Ppl
|
UTSW |
16 |
5,087,206 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03097:Ppl
|
UTSW |
16 |
5,096,726 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0759:Ppl
|
UTSW |
16 |
5,089,777 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0786:Ppl
|
UTSW |
16 |
5,089,054 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1024:Ppl
|
UTSW |
16 |
5,100,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1498:Ppl
|
UTSW |
16 |
5,104,765 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1544:Ppl
|
UTSW |
16 |
5,102,597 (GRCm38) |
nonsense |
probably null |
|
|
R1597:Ppl
|
UTSW |
16 |
5,107,574 (GRCm38) |
missense |
probably benign |
0.20 |
|
R1863:Ppl
|
UTSW |
16 |
5,087,980 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R1921:Ppl
|
UTSW |
16 |
5,106,124 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R2230:Ppl
|
UTSW |
16 |
5,088,981 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R2275:Ppl
|
UTSW |
16 |
5,094,552 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2355:Ppl
|
UTSW |
16 |
5,094,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3410:Ppl
|
UTSW |
16 |
5,107,517 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3737:Ppl
|
UTSW |
16 |
5,106,857 (GRCm38) |
missense |
probably benign |
|
|
R3797:Ppl
|
UTSW |
16 |
5,104,550 (GRCm38) |
splice site |
probably benign |
|
|
R3968:Ppl
|
UTSW |
16 |
5,100,332 (GRCm38) |
splice site |
probably null |
|
|
R3970:Ppl
|
UTSW |
16 |
5,100,332 (GRCm38) |
splice site |
probably null |
|
|
R4034:Ppl
|
UTSW |
16 |
5,106,857 (GRCm38) |
missense |
probably benign |
|
|
R4639:Ppl
|
UTSW |
16 |
5,089,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4762:Ppl
|
UTSW |
16 |
5,088,982 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4828:Ppl
|
UTSW |
16 |
5,104,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4869:Ppl
|
UTSW |
16 |
5,104,889 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4925:Ppl
|
UTSW |
16 |
5,104,982 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4983:Ppl
|
UTSW |
16 |
5,088,718 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R4984:Ppl
|
UTSW |
16 |
5,087,641 (GRCm38) |
missense |
probably benign |
|
|
R4997:Ppl
|
UTSW |
16 |
5,089,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5072:Ppl
|
UTSW |
16 |
5,088,878 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5073:Ppl
|
UTSW |
16 |
5,088,878 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5074:Ppl
|
UTSW |
16 |
5,088,878 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5286:Ppl
|
UTSW |
16 |
5,089,123 (GRCm38) |
nonsense |
probably null |
|
|
R5398:Ppl
|
UTSW |
16 |
5,104,922 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5448:Ppl
|
UTSW |
16 |
5,107,566 (GRCm38) |
missense |
probably benign |
|
|
R5664:Ppl
|
UTSW |
16 |
5,106,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5873:Ppl
|
UTSW |
16 |
5,106,049 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5918:Ppl
|
UTSW |
16 |
5,104,901 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5951:Ppl
|
UTSW |
16 |
5,088,628 (GRCm38) |
missense |
probably benign |
0.25 |
|
R6038:Ppl
|
UTSW |
16 |
5,102,581 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6038:Ppl
|
UTSW |
16 |
5,102,581 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6088:Ppl
|
UTSW |
16 |
5,104,988 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R6149:Ppl
|
UTSW |
16 |
5,107,596 (GRCm38) |
nonsense |
probably null |
|
|
R6358:Ppl
|
UTSW |
16 |
5,087,929 (GRCm38) |
nonsense |
probably null |
|
|
R6379:Ppl
|
UTSW |
16 |
5,097,691 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6468:Ppl
|
UTSW |
16 |
5,092,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6514:Ppl
|
UTSW |
16 |
5,087,317 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6528:Ppl
|
UTSW |
16 |
5,087,616 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6703:Ppl
|
UTSW |
16 |
5,089,464 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6721:Ppl
|
UTSW |
16 |
5,107,469 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6811:Ppl
|
UTSW |
16 |
5,089,144 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6934:Ppl
|
UTSW |
16 |
5,094,509 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7034:Ppl
|
UTSW |
16 |
5,087,502 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7076:Ppl
|
UTSW |
16 |
5,100,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7300:Ppl
|
UTSW |
16 |
5,102,371 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7349:Ppl
|
UTSW |
16 |
5,104,729 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7359:Ppl
|
UTSW |
16 |
5,089,341 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7378:Ppl
|
UTSW |
16 |
5,112,996 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R7383:Ppl
|
UTSW |
16 |
5,097,971 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7389:Ppl
|
UTSW |
16 |
5,106,713 (GRCm38) |
splice site |
probably null |
|
|
R7445:Ppl
|
UTSW |
16 |
5,089,068 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7687:Ppl
|
UTSW |
16 |
5,097,942 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7752:Ppl
|
UTSW |
16 |
5,102,302 (GRCm38) |
missense |
probably benign |
0.09 |
|
R7827:Ppl
|
UTSW |
16 |
5,087,964 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7836:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7842:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7896:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7898:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7943:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8122:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8126:Ppl
|
UTSW |
16 |
5,088,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8284:Ppl
|
UTSW |
16 |
5,132,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8680:Ppl
|
UTSW |
16 |
5,087,436 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8781:Ppl
|
UTSW |
16 |
5,097,936 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8835:Ppl
|
UTSW |
16 |
5,088,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8836:Ppl
|
UTSW |
16 |
5,088,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8837:Ppl
|
UTSW |
16 |
5,088,990 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8866:Ppl
|
UTSW |
16 |
5,102,347 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8894:Ppl
|
UTSW |
16 |
5,107,342 (GRCm38) |
intron |
probably benign |
|
|
R8922:Ppl
|
UTSW |
16 |
5,105,951 (GRCm38) |
missense |
probably benign |
|
|
R8927:Ppl
|
UTSW |
16 |
5,087,610 (GRCm38) |
missense |
probably benign |
0.19 |
|
R8928:Ppl
|
UTSW |
16 |
5,087,610 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9070:Ppl
|
UTSW |
16 |
5,089,344 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9314:Ppl
|
UTSW |
16 |
5,104,503 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R9642:Ppl
|
UTSW |
16 |
5,097,738 (GRCm38) |
missense |
probably benign |
0.01 |
|
RF009:Ppl
|
UTSW |
16 |
5,097,931 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0054:Ppl
|
UTSW |
16 |
5,104,902 (GRCm38) |
missense |
probably benign |
0.00 |
|
Z1088:Ppl
|
UTSW |
16 |
5,089,507 (GRCm38) |
missense |
probably damaging |
0.97 |
|
Z1176:Ppl
|
UTSW |
16 |
5,106,778 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Ppl
|
UTSW |
16 |
5,097,957 (GRCm38) |
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