Incidental Mutation 'R7842:Ppl'
| ID |
606412 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
045896-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7842 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 4906725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 1190
(R1190H)
|
| 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 |
probably damaging
Transcript: ENSMUST00000035672
AA Change: R1190H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: R1190H
| 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 |
probably benign
Transcript: ENSMUST00000230703
|
| Meta Mutation Damage Score |
0.1148 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (77/78) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,855,034 (GRCm39) |
T3A |
unknown |
Het |
| 4933412E24Rik |
T |
C |
15: 59,888,422 (GRCm39) |
E6G |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,087,523 (GRCm39) |
L1135P |
possibly damaging |
Het |
| Agps |
A |
G |
2: 75,681,876 (GRCm39) |
D113G |
probably damaging |
Het |
| Ankhd1 |
G |
T |
18: 36,780,881 (GRCm39) |
V1978L |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,957,966 (GRCm39) |
|
probably null |
Het |
| Arhgap5 |
T |
A |
12: 52,565,480 (GRCm39) |
M817K |
possibly damaging |
Het |
| Bdp1 |
C |
A |
13: 100,235,637 (GRCm39) |
V105F |
probably damaging |
Het |
| Brdt |
A |
G |
5: 107,496,454 (GRCm39) |
N189D |
possibly damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,909,428 (GRCm39) |
N532I |
probably benign |
Het |
| Ccnc |
A |
C |
4: 21,730,480 (GRCm39) |
K39T |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,392,487 (GRCm39) |
V207A |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,411,952 (GRCm39) |
G1231* |
probably null |
Het |
| Chd7 |
A |
T |
4: 8,854,115 (GRCm39) |
T1896S |
probably benign |
Het |
| Clk4 |
A |
T |
11: 51,171,956 (GRCm39) |
H412L |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,465,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Cxxc4 |
A |
T |
3: 133,946,093 (GRCm39) |
I225L |
possibly damaging |
Het |
| Cyp4f39 |
A |
T |
17: 32,702,291 (GRCm39) |
R263W |
probably benign |
Het |
| Dennd10 |
G |
A |
19: 60,819,317 (GRCm39) |
A263T |
not run |
Het |
| Dip2c |
T |
C |
13: 9,656,569 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
A |
G |
1: 181,455,463 (GRCm39) |
T863A |
probably damaging |
Het |
| Dnah17 |
C |
A |
11: 117,970,508 (GRCm39) |
|
probably null |
Het |
| Dnajc10 |
A |
G |
2: 80,175,409 (GRCm39) |
K599E |
probably benign |
Het |
| Dnajc7 |
C |
A |
11: 100,489,544 (GRCm39) |
R101L |
probably benign |
Het |
| Dnttip2 |
G |
A |
3: 122,069,990 (GRCm39) |
E402K |
probably benign |
Het |
| Dusp22 |
T |
A |
13: 30,852,774 (GRCm39) |
|
probably null |
Het |
| Egflam |
C |
A |
15: 7,280,675 (GRCm39) |
R450M |
probably null |
Het |
| Eml5 |
C |
T |
12: 98,760,394 (GRCm39) |
R1785Q |
probably damaging |
Het |
| Fam78b |
G |
T |
1: 166,829,178 (GRCm39) |
R15L |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,915,945 (GRCm39) |
I489N |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,271,263 (GRCm39) |
P893S |
probably damaging |
Het |
| Gm17019 |
T |
C |
5: 15,081,049 (GRCm39) |
M131V |
possibly damaging |
Het |
| Gm21560 |
T |
A |
14: 6,216,262 (GRCm38) |
I194F |
probably benign |
Het |
| Gm28729 |
T |
C |
9: 96,399,705 (GRCm39) |
D158G |
probably damaging |
Het |
| Gucy2c |
C |
T |
6: 136,746,814 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
C |
T |
12: 51,819,343 (GRCm39) |
G1247S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,816,970 (GRCm39) |
I946K |
probably benign |
Het |
| Itgb4 |
A |
T |
11: 115,873,531 (GRCm39) |
D249V |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,549 (GRCm39) |
S133P |
probably damaging |
Het |
| Lsr |
A |
T |
7: 30,665,437 (GRCm39) |
D172E |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,420,702 (GRCm39) |
E184G |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,455,570 (GRCm39) |
D1421E |
probably benign |
Het |
| Map3k4 |
A |
T |
17: 12,490,030 (GRCm39) |
L467H |
possibly damaging |
Het |
| Mogat1 |
T |
C |
1: 78,499,502 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
A |
G |
4: 155,927,367 (GRCm39) |
D384G |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,762,321 (GRCm39) |
T1214A |
|
Het |
| Naip1 |
T |
C |
13: 100,563,506 (GRCm39) |
Y553C |
probably damaging |
Het |
| Nln |
A |
T |
13: 104,189,137 (GRCm39) |
I278K |
probably benign |
Het |
| Nsmaf |
T |
A |
4: 6,435,109 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
G |
14: 56,102,553 (GRCm39) |
R741G |
probably damaging |
Het |
| Or4p8 |
A |
G |
2: 88,727,305 (GRCm39) |
V212A |
possibly damaging |
Het |
| Or52e19b |
A |
G |
7: 103,032,783 (GRCm39) |
V142A |
probably benign |
Het |
| Or5d38 |
C |
T |
2: 87,955,330 (GRCm39) |
|
probably benign |
Het |
| Or8j3 |
G |
T |
2: 86,028,516 (GRCm39) |
Y193* |
probably null |
Het |
| Orc1 |
A |
G |
4: 108,462,744 (GRCm39) |
H607R |
probably benign |
Het |
| Pate2 |
A |
T |
9: 35,581,829 (GRCm39) |
Y41F |
probably damaging |
Het |
| Pcdhb20 |
A |
T |
18: 37,638,112 (GRCm39) |
T213S |
possibly damaging |
Het |
| Pcm1 |
G |
A |
8: 41,780,621 (GRCm39) |
E1858K |
possibly damaging |
Het |
| Pla2g2d |
A |
G |
4: 138,506,089 (GRCm39) |
T59A |
probably damaging |
Het |
| Prl2c2 |
A |
G |
13: 13,179,907 (GRCm39) |
L2P |
probably benign |
Het |
| Proz |
G |
A |
8: 13,113,406 (GRCm39) |
V76I |
probably benign |
Het |
| Prr36 |
A |
G |
8: 4,260,953 (GRCm39) |
S955P |
probably benign |
Het |
| Pter |
T |
C |
2: 12,983,352 (GRCm39) |
V119A |
probably damaging |
Het |
| Qrich1 |
T |
A |
9: 108,433,567 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
T |
C |
9: 106,763,088 (GRCm39) |
E360G |
probably damaging |
Het |
| Skint11 |
G |
A |
4: 114,101,968 (GRCm39) |
C327Y |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,961,174 (GRCm39) |
S987T |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Tbx1 |
T |
C |
16: 18,405,365 (GRCm39) |
S100G |
unknown |
Het |
| Tiam2 |
C |
T |
17: 3,568,399 (GRCm39) |
S1515L |
possibly damaging |
Het |
| Togaram1 |
C |
A |
12: 65,013,233 (GRCm39) |
D161E |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,532,003 (GRCm39) |
S366T |
possibly damaging |
Het |
| Ttc12 |
A |
G |
9: 49,349,724 (GRCm39) |
I691T |
possibly damaging |
Het |
| Ube4a |
A |
G |
9: 44,861,025 (GRCm39) |
|
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,235,516 (GRCm39) |
I1453N |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,058,313 (GRCm39) |
S972P |
probably damaging |
Het |
| Wdr20 |
G |
A |
12: 110,704,649 (GRCm39) |
D63N |
probably benign |
Het |
| Wls |
T |
A |
3: 159,578,816 (GRCm39) |
I126N |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,289 (GRCm39) |
D3350G |
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 |
|
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'- TGGATCTCCTGCTTCAGCTG -3'
(R):5'- GAAGTCAATGACCTCACCCG -3'
Sequencing Primer
(F):5'- GCTGGTAAATCTCTAGGTCACAC -3'
(R):5'- TCACCCGCCAGTATGAGGAC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation