Incidental Mutation 'R7359:Ppl'
| ID |
571231 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
045445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7359 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4907205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1030
(L1030P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000035672
AA Change: L1030P
PolyPhen 2
Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: L1030P
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (87/88) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,236,348 (GRCm39) |
V1233A |
possibly damaging |
Het |
| Abcc9 |
G |
A |
6: 142,617,408 (GRCm39) |
T552I |
probably damaging |
Het |
| Adgrf4 |
T |
C |
17: 42,978,003 (GRCm39) |
I447V |
possibly damaging |
Het |
| Akirin2 |
T |
A |
4: 34,565,944 (GRCm39) |
D178E |
probably damaging |
Het |
| Arhgap12 |
T |
C |
18: 6,065,709 (GRCm39) |
E359G |
possibly damaging |
Het |
| Arhgef5 |
A |
C |
6: 43,257,216 (GRCm39) |
T1256P |
probably damaging |
Het |
| Avpr1a |
A |
C |
10: 122,285,283 (GRCm39) |
I192L |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,651,197 (GRCm39) |
H926R |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Ccdc68 |
C |
T |
18: 70,089,123 (GRCm39) |
A222V |
probably benign |
Het |
| Cdc23 |
T |
C |
18: 34,774,394 (GRCm39) |
Y295C |
probably benign |
Het |
| Ceacam10 |
T |
C |
7: 24,480,432 (GRCm39) |
Y188H |
unknown |
Het |
| Cfap57 |
T |
A |
4: 118,456,162 (GRCm39) |
T511S |
probably benign |
Het |
| Cftr |
T |
C |
6: 18,221,623 (GRCm39) |
V245A |
probably benign |
Het |
| Cit |
A |
G |
5: 116,064,633 (GRCm39) |
D505G |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,652,539 (GRCm39) |
N556K |
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,478,964 (GRCm39) |
S1503P |
|
Het |
| D430041D05Rik |
C |
A |
2: 104,044,482 (GRCm39) |
D839Y |
probably damaging |
Het |
| Dek |
T |
C |
13: 47,259,065 (GRCm39) |
D47G |
unknown |
Het |
| Des |
C |
T |
1: 75,337,596 (GRCm39) |
R179C |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,015,509 (GRCm39) |
N10D |
probably benign |
Het |
| Dlg5 |
T |
C |
14: 24,214,615 (GRCm39) |
N679S |
probably damaging |
Het |
| Dnajc24 |
T |
C |
2: 105,832,293 (GRCm39) |
Y30C |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,687,065 (GRCm39) |
H34L |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,003,337 (GRCm39) |
V1586A |
probably benign |
Het |
| Dpy19l4 |
A |
G |
4: 11,273,125 (GRCm39) |
V576A |
probably benign |
Het |
| Dusp6 |
A |
G |
10: 99,099,927 (GRCm39) |
E125G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,591,036 (GRCm39) |
Y1035H |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,172,306 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
G |
1: 120,534,817 (GRCm39) |
K369E |
unknown |
Het |
| F2r |
A |
G |
13: 95,741,194 (GRCm39) |
Y114H |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,318 (GRCm39) |
Y97C |
probably damaging |
Het |
| Fggy |
T |
C |
4: 95,657,717 (GRCm39) |
V286A |
probably benign |
Het |
| Flot2 |
T |
C |
11: 77,949,383 (GRCm39) |
I322T |
probably benign |
Het |
| Fndc1 |
A |
T |
17: 8,032,318 (GRCm39) |
|
probably null |
Het |
| Frs3 |
A |
G |
17: 48,010,450 (GRCm39) |
D28G |
probably damaging |
Het |
| Gimap3 |
C |
T |
6: 48,742,280 (GRCm39) |
D217N |
probably benign |
Het |
| Gm128 |
A |
G |
3: 95,147,934 (GRCm39) |
V120A |
probably benign |
Het |
| Gm17190 |
T |
C |
13: 96,218,970 (GRCm39) |
V102A |
probably damaging |
Het |
| Gm17268 |
A |
G |
11: 81,919,057 (GRCm39) |
V20A |
unknown |
Het |
| Grsf1 |
A |
T |
5: 88,813,423 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,278,395 (GRCm39) |
Y1699F |
probably benign |
Het |
| Hnmt |
T |
A |
2: 23,938,731 (GRCm39) |
M36L |
probably benign |
Het |
| Hoxd1 |
C |
A |
2: 74,594,447 (GRCm39) |
T234K |
probably damaging |
Het |
| Hydin |
C |
G |
8: 111,232,733 (GRCm39) |
S1679R |
probably damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,226 (GRCm39) |
R1059G |
probably benign |
Het |
| Kbtbd11 |
T |
C |
8: 15,078,858 (GRCm39) |
W486R |
probably damaging |
Het |
| Kcnh6 |
A |
G |
11: 105,909,789 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lgals4 |
T |
G |
7: 28,540,724 (GRCm39) |
F276V |
probably benign |
Het |
| Lrp6 |
G |
T |
6: 134,427,923 (GRCm39) |
Y1556* |
probably null |
Het |
| Mpdz |
G |
A |
4: 81,274,632 (GRCm39) |
L855F |
probably benign |
Het |
| Muc16 |
A |
T |
9: 18,554,316 (GRCm39) |
D3992E |
unknown |
Het |
| Npc1 |
T |
C |
18: 12,328,237 (GRCm39) |
N1024S |
probably benign |
Het |
| Nsfl1c |
A |
G |
2: 151,336,279 (GRCm39) |
T18A |
probably benign |
Het |
| Or12e8 |
T |
A |
2: 87,188,555 (GRCm39) |
L256I |
possibly damaging |
Het |
| Or12k5 |
A |
T |
2: 36,895,449 (GRCm39) |
M59K |
probably damaging |
Het |
| Or2g7 |
G |
A |
17: 38,378,506 (GRCm39) |
W148* |
probably null |
Het |
| Or8g31-ps1 |
T |
C |
9: 39,276,775 (GRCm39) |
*307R |
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,420,048 (GRCm39) |
K1235N |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,726,251 (GRCm39) |
K51E |
probably damaging |
Het |
| Pde1b |
G |
A |
15: 103,429,752 (GRCm39) |
D82N |
probably damaging |
Het |
| Phf23 |
T |
A |
11: 69,889,467 (GRCm39) |
V167E |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,620 (GRCm39) |
V1006A |
unknown |
Het |
| Pira12 |
T |
A |
7: 3,901,103 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
G |
T |
15: 44,452,882 (GRCm39) |
V3936F |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,100,159 (GRCm39) |
V342A |
probably benign |
Het |
| Ppip5k1 |
T |
C |
2: 121,171,329 (GRCm39) |
D620G |
possibly damaging |
Het |
| Prelid1 |
A |
T |
13: 55,469,088 (GRCm39) |
|
probably benign |
Het |
| Racgap1 |
C |
T |
15: 99,529,081 (GRCm39) |
S264N |
probably benign |
Het |
| Rdh13 |
T |
C |
7: 4,430,696 (GRCm39) |
D289G |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,364 (GRCm39) |
I334V |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,392,012 (GRCm39) |
D200V |
|
Het |
| Simc1 |
A |
G |
13: 54,651,731 (GRCm39) |
S15G |
unknown |
Het |
| Sirpb1c |
A |
T |
3: 15,887,389 (GRCm39) |
M150K |
probably benign |
Het |
| Smoc1 |
T |
A |
12: 81,197,475 (GRCm39) |
D202E |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,860,304 (GRCm39) |
Y59C |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,528,761 (GRCm39) |
T1673A |
probably damaging |
Het |
| Tbc1d31 |
T |
A |
15: 57,779,504 (GRCm39) |
H72Q |
probably benign |
Het |
| Tgfbrap1 |
C |
A |
1: 43,114,693 (GRCm39) |
V136L |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,407,376 (GRCm38) |
N720S |
probably null |
Het |
| Vmn1r11 |
T |
C |
6: 57,115,184 (GRCm39) |
S283P |
probably damaging |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,080 (GRCm39) |
H211R |
probably damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,370,538 (GRCm39) |
M836K |
probably benign |
Het |
| Vmn2r61 |
A |
C |
7: 41,915,407 (GRCm39) |
H118P |
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,696,696 (GRCm39) |
I319T |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,543,220 (GRCm39) |
S151T |
|
Het |
| Zfp423 |
T |
C |
8: 88,508,871 (GRCm39) |
N491S |
possibly damaging |
Het |
| Zfp626 |
T |
C |
7: 27,507,660 (GRCm39) |
F23S |
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 |
|
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 |
|
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'- GAGCTTAGCCTGTAGGAAACTC -3'
(R):5'- AGCTATTGCAGGAGGAGCTG -3'
Sequencing Primer
(F):5'- TTAGCCTGTAGGAAACTCAGCTC -3'
(R):5'- GCTGGGAGCACTGCAGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation