Incidental Mutation 'R8927:Ppl'
| ID |
690179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
068771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8927 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 4905474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1607
(N1607I)
|
| 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: N1607I
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: N1607I
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
99% (78/79) |
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
A |
T |
16: 97,867,367 (GRCm39) |
H198Q |
probably damaging |
Het |
| Abcb9 |
T |
C |
5: 124,221,706 (GRCm39) |
T223A |
probably benign |
Het |
| Actc1 |
T |
A |
2: 113,880,881 (GRCm39) |
K115* |
probably null |
Het |
| Angptl2 |
G |
A |
2: 33,132,316 (GRCm39) |
D308N |
probably benign |
Het |
| Arl4d |
A |
C |
11: 101,557,892 (GRCm39) |
Q139H |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,418,125 (GRCm39) |
C2951* |
probably null |
Het |
| Atp23 |
A |
T |
10: 126,723,362 (GRCm39) |
*247R |
probably null |
Het |
| B3gnt7 |
T |
A |
1: 86,232,839 (GRCm39) |
S28R |
probably benign |
Het |
| Bmp7 |
C |
T |
2: 172,721,211 (GRCm39) |
R288H |
probably damaging |
Het |
| Bsdc1 |
G |
T |
4: 129,355,439 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
T |
C |
17: 73,631,761 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
C |
5: 21,538,060 (GRCm39) |
E88G |
probably damaging |
Het |
| Ccdc73 |
C |
A |
2: 104,822,542 (GRCm39) |
D2E |
|
Het |
| Cdc5l |
C |
A |
17: 45,721,839 (GRCm39) |
R477L |
|
Het |
| Cdh22 |
T |
A |
2: 164,965,504 (GRCm39) |
H529L |
possibly damaging |
Het |
| Chchd3 |
T |
A |
6: 32,780,951 (GRCm39) |
E178D |
probably benign |
Het |
| Ciz1 |
A |
T |
2: 32,257,512 (GRCm39) |
R186* |
probably null |
Het |
| Col4a2 |
A |
G |
8: 11,475,543 (GRCm39) |
|
probably null |
Het |
| Copa |
T |
A |
1: 171,931,737 (GRCm39) |
H329Q |
probably null |
Het |
| Dcaf7 |
A |
G |
11: 105,942,752 (GRCm39) |
D233G |
probably damaging |
Het |
| Dclk2 |
G |
T |
3: 86,739,048 (GRCm39) |
P317Q |
probably damaging |
Het |
| Dgat2 |
T |
C |
7: 98,818,710 (GRCm39) |
Y90C |
probably benign |
Het |
| Dsc3 |
A |
T |
18: 20,107,234 (GRCm39) |
H462Q |
probably benign |
Het |
| Fam151a |
T |
A |
4: 106,603,242 (GRCm39) |
|
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,638,535 (GRCm39) |
N1998S |
probably benign |
Het |
| Fpr2 |
T |
C |
17: 18,113,724 (GRCm39) |
L240S |
possibly damaging |
Het |
| Fzd9 |
A |
T |
5: 135,278,589 (GRCm39) |
M432K |
probably damaging |
Het |
| Gm5862 |
T |
A |
5: 26,226,678 (GRCm39) |
I75F |
probably damaging |
Het |
| Gpr45 |
T |
A |
1: 43,072,314 (GRCm39) |
V319D |
probably damaging |
Het |
| H4c11 |
T |
C |
13: 21,919,525 (GRCm39) |
V87A |
possibly damaging |
Het |
| Igfn1 |
T |
A |
1: 135,905,984 (GRCm39) |
R275W |
probably damaging |
Het |
| Inafm1 |
G |
A |
7: 16,006,980 (GRCm39) |
A79V |
unknown |
Het |
| Itfg1 |
C |
T |
8: 86,567,420 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,356,535 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
T |
G |
7: 99,120,221 (GRCm39) |
I366S |
probably damaging |
Het |
| Lysmd1 |
A |
T |
3: 95,045,831 (GRCm39) |
I223F |
probably damaging |
Het |
| Mrps30 |
A |
G |
13: 118,523,205 (GRCm39) |
L189P |
probably damaging |
Het |
| Ms4a4d |
A |
C |
19: 11,533,574 (GRCm39) |
T152P |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,755,628 (GRCm39) |
I238K |
probably benign |
Het |
| Musk |
T |
C |
4: 58,301,638 (GRCm39) |
I132T |
probably damaging |
Het |
| Myh2 |
A |
T |
11: 67,079,509 (GRCm39) |
M989L |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,174,081 (GRCm39) |
R172H |
probably benign |
Het |
| Nt5c1a |
C |
T |
4: 123,102,281 (GRCm39) |
T69M |
possibly damaging |
Het |
| Nuak2 |
T |
A |
1: 132,255,916 (GRCm39) |
D196E |
probably damaging |
Het |
| Or52h7 |
A |
T |
7: 104,214,229 (GRCm39) |
H267L |
probably damaging |
Het |
| Or5ap2 |
A |
T |
2: 85,679,918 (GRCm39) |
I41F |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,630 (GRCm39) |
T16A |
probably benign |
Het |
| Or8k53 |
T |
C |
2: 86,178,090 (GRCm39) |
T7A |
possibly damaging |
Het |
| Or8s10 |
A |
G |
15: 98,336,519 (GRCm39) |
|
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,821 (GRCm39) |
C643S |
probably damaging |
Het |
| Pde5a |
T |
A |
3: 122,633,249 (GRCm39) |
I706N |
probably damaging |
Het |
| Pdlim4 |
T |
C |
11: 53,950,790 (GRCm39) |
R100G |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,128,906 (GRCm39) |
V5E |
possibly damaging |
Het |
| Pira1 |
A |
C |
7: 3,742,358 (GRCm39) |
N56K |
probably benign |
Het |
| Plekhm1 |
A |
G |
11: 103,268,039 (GRCm39) |
V644A |
probably benign |
Het |
| Plk2 |
T |
G |
13: 110,535,750 (GRCm39) |
V524G |
probably damaging |
Het |
| Prag1 |
T |
G |
8: 36,614,360 (GRCm39) |
V1304G |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,426,995 (GRCm39) |
V1077M |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,248 (GRCm39) |
S14G |
probably benign |
Het |
| Psrc1 |
T |
G |
3: 108,293,973 (GRCm39) |
S263R |
probably damaging |
Het |
| Qrfprl |
C |
A |
6: 65,358,597 (GRCm39) |
S107* |
probably null |
Het |
| Rbp7 |
A |
T |
4: 149,537,958 (GRCm39) |
L36* |
probably null |
Het |
| Rgs12 |
G |
T |
5: 35,123,633 (GRCm39) |
W472L |
possibly damaging |
Het |
| Rrp8 |
C |
A |
7: 105,384,073 (GRCm39) |
C143F |
possibly damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,529 (GRCm39) |
S43G |
probably benign |
Het |
| Setx |
A |
G |
2: 29,016,971 (GRCm39) |
T25A |
possibly damaging |
Het |
| Skint5 |
G |
A |
4: 113,341,099 (GRCm39) |
T1414I |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,248,952 (GRCm39) |
S734R |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,251 (GRCm39) |
Y528F |
probably benign |
Het |
| Spon1 |
T |
C |
7: 113,629,592 (GRCm39) |
|
probably null |
Het |
| Sptbn1 |
C |
T |
11: 30,088,962 (GRCm39) |
V767I |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,860,095 (GRCm39) |
I477V |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,701,331 (GRCm39) |
Y282C |
probably damaging |
Het |
| Tbc1d23 |
A |
G |
16: 56,992,152 (GRCm39) |
Y603H |
probably damaging |
Het |
| Tdpoz6 |
T |
A |
3: 93,599,950 (GRCm39) |
T140S |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,218 (GRCm39) |
D134G |
probably damaging |
Het |
| Tmem200c |
A |
G |
17: 69,148,733 (GRCm39) |
T439A |
probably benign |
Het |
| Tmem63b |
A |
T |
17: 45,975,908 (GRCm39) |
M515K |
probably damaging |
Het |
| Tnc |
A |
T |
4: 63,925,595 (GRCm39) |
N980K |
probably damaging |
Het |
| Ttc23l |
T |
A |
15: 10,530,720 (GRCm39) |
L297F |
probably damaging |
Het |
| Vinac1 |
A |
G |
2: 128,882,789 (GRCm39) |
S76P |
|
Het |
| Vmn1r170 |
A |
G |
7: 23,305,814 (GRCm39) |
N72S |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,950,131 (GRCm39) |
M239V |
|
Het |
| Vopp1 |
A |
G |
6: 57,731,578 (GRCm39) |
F138L |
probably damaging |
Het |
| Vps41 |
T |
A |
13: 18,929,501 (GRCm39) |
F79I |
probably benign |
Het |
| Zfp317 |
T |
C |
9: 19,552,521 (GRCm39) |
M1T |
probably null |
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 |
|
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 |
|
|
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'- TTTCCAGTCGATAAGCCCAG -3'
(R):5'- TAATTCCAAGTCATCCAAGGAACTG -3'
Sequencing Primer
(F):5'- ATAAGCCCAGCCCGGTGAG -3'
(R):5'- GTCATCCAAGGAACTGGACTTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation