Incidental Mutation 'R5074:Ppl'
| ID |
386888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
042663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5074 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4906742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1184
(S1184R)
|
| 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 benign
Transcript: ENSMUST00000035672
AA Change: S1184R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: S1184R
| 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 |
noncoding transcript
Transcript: ENSMUST00000229386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230703
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.2%
|
| 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: 115 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,210,482 (GRCm39) |
H143Q |
probably benign |
Het |
| Abca3 |
C |
T |
17: 24,593,274 (GRCm39) |
R224C |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,659,207 (GRCm39) |
W528R |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,665 (GRCm39) |
E329G |
probably damaging |
Het |
| Agbl5 |
G |
A |
5: 31,060,403 (GRCm39) |
R141Q |
probably damaging |
Het |
| Ampd2 |
A |
T |
3: 107,986,549 (GRCm39) |
M245K |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,055,219 (GRCm39) |
|
probably null |
Het |
| Apool |
C |
T |
X: 111,259,540 (GRCm39) |
Q60* |
probably null |
Het |
| Aqp1 |
A |
T |
6: 55,322,520 (GRCm39) |
I172F |
probably damaging |
Het |
| Atp7a |
A |
G |
X: 105,153,374 (GRCm39) |
D1092G |
probably benign |
Het |
| Ccdc83 |
A |
T |
7: 89,899,737 (GRCm39) |
F45Y |
probably damaging |
Het |
| Cct8l1 |
G |
A |
5: 25,721,881 (GRCm39) |
V199I |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdc25a |
T |
A |
9: 109,713,208 (GRCm39) |
C227S |
possibly damaging |
Het |
| Ces1a |
A |
G |
8: 93,759,303 (GRCm39) |
S278P |
possibly damaging |
Het |
| Cfap65 |
A |
T |
1: 74,962,137 (GRCm39) |
S695T |
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,709,797 (GRCm39) |
|
silent |
Het |
| Ctps1 |
A |
T |
4: 120,411,170 (GRCm39) |
L282Q |
probably damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,631,906 (GRCm39) |
F450Y |
probably benign |
Het |
| Cyp2d10 |
C |
T |
15: 82,287,954 (GRCm39) |
R383H |
probably benign |
Het |
| Dennd3 |
G |
A |
15: 73,419,144 (GRCm39) |
R645H |
probably damaging |
Het |
| Dnaaf5 |
G |
T |
5: 139,159,962 (GRCm39) |
R620L |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,046,188 (GRCm39) |
L1750* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,740,866 (GRCm39) |
F4107L |
probably damaging |
Het |
| Dnaja3 |
A |
T |
16: 4,514,289 (GRCm39) |
T274S |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,620,480 (GRCm39) |
D514G |
possibly damaging |
Het |
| Dst |
A |
C |
1: 34,334,344 (GRCm39) |
K4857N |
probably damaging |
Het |
| Dysf |
A |
T |
6: 84,114,254 (GRCm39) |
K1226M |
probably damaging |
Het |
| Enpep |
T |
A |
3: 129,097,404 (GRCm39) |
Q409L |
probably damaging |
Het |
| Fign |
A |
T |
2: 63,810,037 (GRCm39) |
L411* |
probably null |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Fryl |
G |
A |
5: 73,232,110 (GRCm39) |
P1550L |
probably damaging |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| H2ab3 |
T |
C |
X: 119,222,543 (GRCm39) |
T84A |
probably damaging |
Het |
| Hal |
A |
T |
10: 93,349,904 (GRCm39) |
I555F |
probably damaging |
Het |
| Hibadh |
C |
T |
6: 52,597,079 (GRCm39) |
V122M |
possibly damaging |
Het |
| Hsd3b3 |
T |
C |
3: 98,649,340 (GRCm39) |
T328A |
possibly damaging |
Het |
| Ifi44 |
T |
C |
3: 151,455,269 (GRCm39) |
|
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,986,361 (GRCm39) |
T43A |
probably benign |
Het |
| Inf2 |
A |
T |
12: 112,578,473 (GRCm39) |
|
probably null |
Het |
| Itga10 |
C |
T |
3: 96,559,527 (GRCm39) |
Q475* |
probably null |
Het |
| Itga6 |
T |
A |
2: 71,656,779 (GRCm39) |
D344E |
probably benign |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,102 (GRCm39) |
T109A |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,658,053 (GRCm39) |
M37I |
probably benign |
Het |
| Kiss1r |
C |
A |
10: 79,754,596 (GRCm39) |
S30* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,765,354 (GRCm39) |
P563L |
probably damaging |
Het |
| Mamdc2 |
T |
C |
19: 23,356,160 (GRCm39) |
D96G |
probably benign |
Het |
| Map3k12 |
A |
T |
15: 102,410,267 (GRCm39) |
|
probably null |
Het |
| Mc3r |
A |
T |
2: 172,091,533 (GRCm39) |
I252F |
possibly damaging |
Het |
| Metrn |
C |
T |
17: 26,015,613 (GRCm39) |
G34D |
probably damaging |
Het |
| Mipep |
A |
G |
14: 61,046,462 (GRCm39) |
E328G |
probably benign |
Het |
| Mrtfa |
A |
G |
15: 80,906,627 (GRCm39) |
V91A |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,999 (GRCm39) |
T1982S |
unknown |
Het |
| Myh8 |
A |
T |
11: 67,196,742 (GRCm39) |
T1792S |
possibly damaging |
Het |
| Myo1a |
T |
C |
10: 127,543,288 (GRCm39) |
|
probably null |
Het |
| Myo5a |
T |
A |
9: 75,081,438 (GRCm39) |
S1008T |
probably benign |
Het |
| Ncald |
A |
T |
15: 37,397,478 (GRCm39) |
H67Q |
probably damaging |
Het |
| Nudt5 |
T |
A |
2: 5,869,198 (GRCm39) |
H141Q |
probably benign |
Het |
| Numbl |
G |
A |
7: 26,980,415 (GRCm39) |
D466N |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,032,309 (GRCm39) |
I20F |
probably benign |
Het |
| Odad1 |
T |
A |
7: 45,578,514 (GRCm39) |
M29K |
probably benign |
Het |
| Or10ak12 |
A |
C |
4: 118,666,057 (GRCm39) |
W319G |
possibly damaging |
Het |
| Or10p21 |
T |
C |
10: 128,847,213 (GRCm39) |
Y20H |
possibly damaging |
Het |
| Or14c46 |
A |
G |
7: 85,918,799 (GRCm39) |
I66T |
probably damaging |
Het |
| Or51l14 |
A |
T |
7: 103,100,617 (GRCm39) |
E24D |
probably benign |
Het |
| Or52e8b |
A |
T |
7: 104,673,260 (GRCm39) |
M309K |
probably benign |
Het |
| Or52n2c |
A |
C |
7: 104,574,700 (GRCm39) |
N90K |
probably benign |
Het |
| Or7h8 |
A |
T |
9: 20,123,878 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,666 (GRCm39) |
V158D |
possibly damaging |
Het |
| Papolg |
G |
A |
11: 23,817,331 (GRCm39) |
T153I |
possibly damaging |
Het |
| Pappa |
A |
G |
4: 65,123,365 (GRCm39) |
H900R |
probably benign |
Het |
| Pcdh17 |
T |
C |
14: 84,770,782 (GRCm39) |
S1087P |
probably benign |
Het |
| Phf11a |
T |
G |
14: 59,521,849 (GRCm39) |
L107F |
possibly damaging |
Het |
| Phlpp2 |
A |
T |
8: 110,652,461 (GRCm39) |
I602F |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,665,873 (GRCm39) |
C65S |
probably null |
Het |
| Pilra |
A |
G |
5: 137,833,674 (GRCm39) |
F131L |
probably damaging |
Het |
| Pomt2 |
A |
C |
12: 87,180,234 (GRCm39) |
C256G |
probably damaging |
Het |
| Prkaa1 |
G |
T |
15: 5,206,392 (GRCm39) |
R416L |
possibly damaging |
Het |
| Prkdc |
C |
A |
16: 15,589,912 (GRCm39) |
R2592S |
probably damaging |
Het |
| Prmt2 |
C |
T |
10: 76,058,390 (GRCm39) |
V140I |
probably damaging |
Het |
| Prodh |
A |
T |
16: 17,895,653 (GRCm39) |
|
probably null |
Het |
| Psg29 |
T |
A |
7: 16,945,763 (GRCm39) |
D444E |
probably damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,141,272 (GRCm39) |
N573I |
probably damaging |
Het |
| Rbm38 |
C |
T |
2: 172,863,875 (GRCm39) |
P15S |
probably benign |
Het |
| Riox2 |
T |
C |
16: 59,312,236 (GRCm39) |
S458P |
possibly damaging |
Het |
| Rnase4 |
T |
C |
14: 51,342,702 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,204 (GRCm39) |
N244S |
probably benign |
Het |
| Rnf40 |
T |
C |
7: 127,196,458 (GRCm39) |
L802P |
probably damaging |
Het |
| Sfxn4 |
C |
T |
19: 60,839,450 (GRCm39) |
V203M |
probably damaging |
Het |
| Skor2 |
G |
T |
18: 76,946,649 (GRCm39) |
E124* |
probably null |
Het |
| Slc4a2 |
G |
A |
5: 24,643,760 (GRCm39) |
S855N |
probably benign |
Het |
| Slc8a2 |
T |
C |
7: 15,884,508 (GRCm39) |
L626P |
possibly damaging |
Het |
| Slco4c1 |
G |
A |
1: 96,768,953 (GRCm39) |
P303L |
probably damaging |
Het |
| Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
| Snrpd3 |
G |
T |
10: 75,355,227 (GRCm39) |
C20F |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,987,434 (GRCm39) |
Y1575N |
possibly damaging |
Het |
| St8sia4 |
G |
A |
1: 95,594,910 (GRCm39) |
A26V |
probably benign |
Het |
| Stab2 |
A |
T |
10: 86,699,422 (GRCm39) |
I481N |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,959,208 (GRCm39) |
T1114S |
probably damaging |
Het |
| Tgm1 |
A |
G |
14: 55,947,392 (GRCm39) |
V323A |
probably damaging |
Het |
| Tmco4 |
A |
G |
4: 138,785,433 (GRCm39) |
H501R |
probably damaging |
Het |
| Tob1 |
A |
T |
11: 94,104,567 (GRCm39) |
R34S |
possibly damaging |
Het |
| Trhr2 |
C |
T |
8: 123,084,110 (GRCm39) |
V297I |
probably benign |
Het |
| Trim30d |
A |
C |
7: 104,137,165 (GRCm39) |
V13G |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,713 (GRCm39) |
V485A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,787,989 (GRCm39) |
I3518T |
probably damaging |
Het |
| Ttc27 |
T |
C |
17: 75,054,750 (GRCm39) |
L352P |
probably damaging |
Het |
| Ush1g |
A |
G |
11: 115,209,123 (GRCm39) |
L357P |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,277,644 (GRCm39) |
H2258R |
probably benign |
Het |
| Vcam1 |
A |
G |
3: 115,918,037 (GRCm39) |
V308A |
probably damaging |
Het |
| Vdr |
A |
G |
15: 97,755,459 (GRCm39) |
S355P |
probably benign |
Het |
| Vldlr |
T |
C |
19: 27,215,677 (GRCm39) |
S184P |
probably damaging |
Het |
| Xpo4 |
C |
A |
14: 57,822,098 (GRCm39) |
A1073S |
probably benign |
Het |
| Zfand2b |
A |
G |
1: 75,147,634 (GRCm39) |
D224G |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,564,704 (GRCm39) |
R240G |
possibly 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 |
|
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'- AACCTGGTCTTGTCCATGATC -3'
(R):5'- GAGAAGTCAATGACCTCACCCG -3'
Sequencing Primer
(F):5'- CTGAGCCTCTGGAGTTCCTG -3'
(R):5'- TCACCCGCCAGTATGAGGAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation