Incidental Mutation 'R1544:Ppl'
| ID |
172063 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
039583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1544 (G1)
|
| Quality Score |
179 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 4920461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 350
(K350*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035672]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035672
AA Change: K350*
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: K350*
| 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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.9%
|
| Validation Efficiency |
99% (114/115) |
| 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: 111 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,147,543 (GRCm39) |
I182T |
possibly damaging |
Het |
| 4933406P04Rik |
A |
G |
10: 20,187,105 (GRCm39) |
|
probably benign |
Het |
| A730018C14Rik |
A |
G |
12: 112,381,924 (GRCm39) |
|
noncoding transcript |
Het |
| Aacs |
A |
T |
5: 125,593,394 (GRCm39) |
I666F |
possibly damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,694 (GRCm39) |
V227I |
probably benign |
Het |
| Abcd3 |
T |
C |
3: 121,578,122 (GRCm39) |
Q168R |
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,080,311 (GRCm39) |
Q288R |
probably benign |
Het |
| Atad2 |
G |
A |
15: 57,966,760 (GRCm39) |
A611V |
probably damaging |
Het |
| Aup1 |
T |
C |
6: 83,032,187 (GRCm39) |
V118A |
possibly damaging |
Het |
| Bend7 |
T |
A |
2: 4,768,122 (GRCm39) |
|
probably benign |
Het |
| Brd4 |
A |
G |
17: 32,417,646 (GRCm39) |
|
probably benign |
Het |
| C4b |
C |
A |
17: 34,957,941 (GRCm39) |
R580L |
probably benign |
Het |
| Cct8 |
G |
T |
16: 87,288,342 (GRCm39) |
|
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,664,608 (GRCm39) |
C484S |
probably damaging |
Het |
| Cilp |
T |
C |
9: 65,183,127 (GRCm39) |
Y344H |
probably benign |
Het |
| Clic6 |
A |
T |
16: 92,288,961 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,360,703 (GRCm39) |
S247P |
probably damaging |
Het |
| Csf2rb |
G |
T |
15: 78,224,955 (GRCm39) |
A212S |
probably benign |
Het |
| Csmd3 |
A |
C |
15: 47,475,294 (GRCm39) |
|
probably null |
Het |
| Cyp26c1 |
A |
G |
19: 37,679,393 (GRCm39) |
D366G |
probably benign |
Het |
| Dhx33 |
A |
G |
11: 70,890,354 (GRCm39) |
S222P |
probably damaging |
Het |
| Dhx40 |
T |
A |
11: 86,697,379 (GRCm39) |
I63F |
possibly damaging |
Het |
| Dipk2b |
A |
C |
X: 18,286,701 (GRCm39) |
L285V |
possibly damaging |
Het |
| Dlgap2 |
T |
A |
8: 14,879,861 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,105,957 (GRCm39) |
D20E |
unknown |
Het |
| Dnase2b |
C |
A |
3: 146,290,312 (GRCm39) |
A220S |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,570,352 (GRCm39) |
E362G |
probably benign |
Het |
| Ect2l |
C |
T |
10: 18,044,182 (GRCm39) |
V226I |
probably benign |
Het |
| Epha10 |
C |
A |
4: 124,779,389 (GRCm39) |
N78K |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,593,416 (GRCm39) |
V224A |
probably damaging |
Het |
| Fcgr4 |
C |
A |
1: 170,847,523 (GRCm39) |
D40E |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,887,553 (GRCm39) |
M548V |
probably benign |
Het |
| Flii |
C |
T |
11: 60,610,518 (GRCm39) |
|
probably null |
Het |
| Flnc |
A |
T |
6: 29,444,079 (GRCm39) |
Y631F |
probably benign |
Het |
| Gm6871 |
A |
C |
7: 41,195,514 (GRCm39) |
|
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,387,772 (GRCm39) |
S1028T |
possibly damaging |
Het |
| Hycc1 |
A |
T |
5: 24,170,139 (GRCm39) |
D403E |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,301,486 (GRCm39) |
H3739R |
probably benign |
Het |
| Iqcg |
A |
T |
16: 32,865,895 (GRCm39) |
N149K |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
| Itih2 |
T |
G |
2: 10,110,025 (GRCm39) |
D576A |
probably benign |
Het |
| Kcmf1 |
T |
C |
6: 72,825,212 (GRCm39) |
T243A |
probably benign |
Het |
| Kif1a |
A |
G |
1: 93,002,670 (GRCm39) |
|
probably benign |
Het |
| Klf10 |
C |
T |
15: 38,297,030 (GRCm39) |
G337S |
probably damaging |
Het |
| Krt31 |
T |
C |
11: 99,938,699 (GRCm39) |
N298S |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,882,823 (GRCm39) |
E556G |
probably benign |
Het |
| Mael |
A |
T |
1: 166,029,859 (GRCm39) |
S354T |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,816 (GRCm39) |
D496G |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,172,661 (GRCm39) |
T1806A |
possibly damaging |
Het |
| Mms19 |
A |
G |
19: 41,944,260 (GRCm39) |
|
probably null |
Het |
| Moap1 |
A |
T |
12: 102,709,504 (GRCm39) |
M15K |
possibly damaging |
Het |
| Mpv17l |
G |
T |
16: 13,764,683 (GRCm39) |
W70L |
probably damaging |
Het |
| Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,127,962 (GRCm39) |
I577V |
probably benign |
Het |
| Myo9b |
T |
A |
8: 71,743,620 (GRCm39) |
L227Q |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,154,059 (GRCm39) |
|
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,452,983 (GRCm39) |
R26L |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,966,248 (GRCm39) |
T405A |
probably damaging |
Het |
| Nrp2 |
T |
A |
1: 62,802,063 (GRCm39) |
I502N |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,246,129 (GRCm39) |
H230L |
probably benign |
Het |
| Nufip2 |
G |
A |
11: 77,582,733 (GRCm39) |
E216K |
possibly damaging |
Het |
| Oaf |
A |
G |
9: 43,133,930 (GRCm39) |
Y264H |
probably damaging |
Het |
| Or51a42 |
A |
G |
7: 103,708,431 (GRCm39) |
V126A |
probably damaging |
Het |
| Or5m10 |
T |
C |
2: 85,717,615 (GRCm39) |
L157P |
probably damaging |
Het |
| Or6c217 |
A |
T |
10: 129,738,293 (GRCm39) |
C95* |
probably null |
Het |
| Pax1 |
T |
C |
2: 147,210,321 (GRCm39) |
V352A |
probably damaging |
Het |
| Pkd1l2 |
TGGG |
TGG |
8: 117,764,974 (GRCm39) |
|
probably null |
Het |
| Plxna3 |
G |
A |
X: 73,383,772 (GRCm39) |
|
probably null |
Het |
| Pnpla3 |
T |
C |
15: 84,065,247 (GRCm39) |
V347A |
probably benign |
Het |
| Pramel28 |
T |
C |
4: 143,692,632 (GRCm39) |
D123G |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,186,424 (GRCm39) |
|
probably null |
Het |
| Prb1a |
C |
A |
6: 132,186,423 (GRCm39) |
|
probably null |
Het |
| Ptpn11 |
G |
A |
5: 121,275,574 (GRCm39) |
H540Y |
probably benign |
Het |
| Ptprz1 |
C |
A |
6: 23,000,747 (GRCm39) |
H946N |
possibly damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad51b |
A |
G |
12: 79,349,317 (GRCm39) |
E51G |
possibly damaging |
Het |
| Rin2 |
T |
C |
2: 145,700,366 (GRCm39) |
V181A |
probably damaging |
Het |
| Rnf157 |
T |
A |
11: 116,245,188 (GRCm39) |
|
probably null |
Het |
| Rnf207 |
A |
G |
4: 152,398,328 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
A |
T |
4: 100,299,183 (GRCm39) |
K852M |
probably damaging |
Het |
| Sbp |
T |
A |
17: 24,164,043 (GRCm39) |
I102K |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,195,429 (GRCm39) |
I33T |
probably damaging |
Het |
| Scn5a |
C |
T |
9: 119,315,699 (GRCm39) |
V1670I |
probably damaging |
Het |
| Serhl |
C |
T |
15: 82,989,877 (GRCm39) |
T42M |
probably damaging |
Het |
| Sin3a |
A |
G |
9: 57,011,281 (GRCm39) |
|
probably benign |
Het |
| Slc12a2 |
A |
G |
18: 58,012,374 (GRCm39) |
S166G |
probably benign |
Het |
| Slc15a4 |
G |
A |
5: 127,680,832 (GRCm39) |
H396Y |
probably benign |
Het |
| Slc2a7 |
A |
T |
4: 150,239,143 (GRCm39) |
N123Y |
probably damaging |
Het |
| Smpd3 |
G |
A |
8: 106,992,199 (GRCm39) |
T118M |
possibly damaging |
Het |
| Spns2 |
A |
T |
11: 72,347,193 (GRCm39) |
I427N |
probably benign |
Het |
| Ssmem1 |
T |
A |
6: 30,519,650 (GRCm39) |
S112T |
probably damaging |
Het |
| Stard10 |
A |
T |
7: 100,993,233 (GRCm39) |
D190V |
probably damaging |
Het |
| Stil |
A |
T |
4: 114,881,049 (GRCm39) |
K531M |
probably damaging |
Het |
| Strc |
T |
C |
2: 121,203,219 (GRCm39) |
|
probably null |
Het |
| Svil |
T |
A |
18: 5,046,817 (GRCm39) |
I21N |
possibly damaging |
Het |
| Syt11 |
T |
C |
3: 88,656,110 (GRCm39) |
M14V |
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,640,413 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,577,081 (GRCm39) |
Q1468L |
probably benign |
Het |
| Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
| Tmprss11d |
A |
C |
5: 86,486,658 (GRCm39) |
S77R |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,554,383 (GRCm39) |
|
probably benign |
Het |
| Tyr |
C |
A |
7: 87,141,914 (GRCm39) |
L138F |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,927,901 (GRCm39) |
V469A |
probably damaging |
Het |
| Ugt8a |
T |
C |
3: 125,709,098 (GRCm39) |
Y4C |
probably benign |
Het |
| Vmn1r201 |
A |
T |
13: 22,658,968 (GRCm39) |
T61S |
probably benign |
Het |
| Vmn1r204 |
A |
G |
13: 22,740,465 (GRCm39) |
H32R |
probably benign |
Het |
| Vmn1r228 |
T |
A |
17: 20,997,285 (GRCm39) |
I78L |
probably benign |
Het |
| Wdr90 |
T |
C |
17: 26,068,284 (GRCm39) |
D1348G |
possibly damaging |
Het |
| Zfp563 |
T |
A |
17: 33,324,187 (GRCm39) |
C261S |
probably benign |
Het |
| Zfp809 |
T |
A |
9: 22,146,395 (GRCm39) |
L28Q |
probably damaging |
Het |
| Znrf3 |
T |
A |
11: 5,239,066 (GRCm39) |
Q99L |
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 |
|
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 |
|
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'- GCACCACATCCTCATACTTGTCCAG -3'
(R):5'- GAAGGTTTGCATACAGCCGCATTG -3'
Sequencing Primer
(F):5'- AGAGCCTTCTCCTGGTCCTG -3'
(R):5'- CATACAGCCGCATTGTTAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation