Incidental Mutation 'R4762:Ppl'
| ID |
356987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ppl
|
| Ensembl Gene |
ENSMUSG00000039457 |
| Gene Name |
periplakin |
| Synonyms |
|
| MMRRC Submission |
042403-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4762 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
4904155-4950285 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4906846 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1150
(T1150A)
|
| 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: T1150A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000039360
Gene: ENSMUSG00000039457
AA Change: T1150A
| 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 |
0.0585 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (86/86) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600012P17Rik |
T |
C |
1: 158,797,126 (GRCm39) |
|
noncoding transcript |
Het |
| 2310030G06Rik |
T |
C |
9: 50,651,967 (GRCm39) |
E87G |
probably damaging |
Het |
| Aknad1 |
A |
T |
3: 108,682,547 (GRCm39) |
H541L |
possibly damaging |
Het |
| Asb15 |
A |
G |
6: 24,567,236 (GRCm39) |
E519G |
possibly damaging |
Het |
| Atad2 |
T |
C |
15: 57,971,758 (GRCm39) |
D373G |
probably benign |
Het |
| Bbs12 |
G |
A |
3: 37,374,529 (GRCm39) |
V326M |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,936,484 (GRCm39) |
I2617T |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,454,581 (GRCm39) |
T115A |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,023,438 (GRCm39) |
L495P |
probably damaging |
Het |
| Ccdc30 |
T |
A |
4: 119,190,785 (GRCm39) |
I481F |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,446,677 (GRCm39) |
Y56* |
probably null |
Het |
| Cfap54 |
A |
C |
10: 92,897,315 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
G |
T |
4: 96,358,886 (GRCm39) |
D344E |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,331,368 (GRCm39) |
W27R |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,356,575 (GRCm39) |
I95T |
probably damaging |
Het |
| Engase |
G |
T |
11: 118,377,920 (GRCm39) |
V237F |
possibly damaging |
Het |
| Ephb6 |
G |
A |
6: 41,595,094 (GRCm39) |
E703K |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,356,997 (GRCm39) |
F35L |
probably damaging |
Het |
| Fnip1 |
A |
T |
11: 54,390,352 (GRCm39) |
T440S |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,879,477 (GRCm39) |
H2431Q |
probably benign |
Het |
| Fzd4 |
A |
T |
7: 89,056,924 (GRCm39) |
T324S |
probably damaging |
Het |
| Gm10192 |
C |
G |
4: 97,071,345 (GRCm39) |
S20T |
probably null |
Het |
| Gpr84 |
A |
T |
15: 103,217,027 (GRCm39) |
V350E |
probably damaging |
Het |
| Gsto2 |
T |
C |
19: 47,863,312 (GRCm39) |
Y63H |
probably damaging |
Het |
| Gtpbp6 |
T |
C |
5: 110,252,186 (GRCm39) |
T449A |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,820,388 (GRCm39) |
V2876I |
probably benign |
Het |
| Hnrnpa3 |
A |
G |
2: 75,492,351 (GRCm39) |
I152V |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 42,777,510 (GRCm39) |
D552G |
possibly damaging |
Het |
| Itfg1 |
A |
G |
8: 86,459,070 (GRCm39) |
V460A |
possibly damaging |
Het |
| Jhy |
G |
A |
9: 40,822,494 (GRCm39) |
A548V |
probably benign |
Het |
| Klhl21 |
T |
A |
4: 152,094,268 (GRCm39) |
L290Q |
possibly damaging |
Het |
| Knl1 |
T |
C |
2: 118,902,417 (GRCm39) |
S1373P |
probably benign |
Het |
| Kpna2 |
A |
C |
11: 106,881,085 (GRCm39) |
M426R |
probably benign |
Het |
| Krt9 |
C |
T |
11: 100,081,675 (GRCm39) |
V285I |
probably damaging |
Het |
| Lpar1 |
T |
G |
4: 58,437,346 (GRCm39) |
H361P |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,349,237 (GRCm39) |
T2100A |
probably benign |
Het |
| Mfsd13b |
T |
C |
7: 120,590,549 (GRCm39) |
F97L |
probably damaging |
Het |
| Mmp15 |
A |
G |
8: 96,098,958 (GRCm39) |
K595R |
probably benign |
Het |
| Mrps25 |
C |
T |
6: 92,152,085 (GRCm39) |
G145D |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,574,916 (GRCm39) |
|
probably benign |
Het |
| Napa |
A |
T |
7: 15,849,196 (GRCm39) |
K245N |
probably benign |
Het |
| Or10p1 |
C |
A |
10: 129,444,043 (GRCm39) |
M102I |
probably damaging |
Het |
| Or14c39 |
A |
G |
7: 86,344,329 (GRCm39) |
T222A |
probably benign |
Het |
| Or2y1c |
A |
T |
11: 49,361,112 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,082 (GRCm39) |
V246M |
probably damaging |
Het |
| Or4k39 |
T |
A |
2: 111,239,225 (GRCm39) |
|
noncoding transcript |
Het |
| Or5au1 |
T |
A |
14: 52,272,921 (GRCm39) |
I216F |
possibly damaging |
Het |
| Or8c20 |
A |
G |
9: 38,260,577 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or8k35 |
A |
G |
2: 86,424,381 (GRCm39) |
S264P |
possibly damaging |
Het |
| Papss2 |
A |
T |
19: 32,616,378 (GRCm39) |
T195S |
probably benign |
Het |
| Parp4 |
T |
A |
14: 56,848,267 (GRCm39) |
H694Q |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,293,807 (GRCm39) |
R20* |
probably null |
Het |
| Pcdhgb8 |
T |
A |
18: 37,895,419 (GRCm39) |
V163E |
probably damaging |
Het |
| Pkd2l1 |
T |
A |
19: 44,144,060 (GRCm39) |
T338S |
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,444,328 (GRCm39) |
S278R |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,442,164 (GRCm39) |
D858G |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,844,783 (GRCm39) |
|
probably benign |
Het |
| Ring1 |
T |
C |
17: 34,240,971 (GRCm39) |
|
probably benign |
Het |
| Rusc1 |
A |
C |
3: 88,998,949 (GRCm39) |
S278A |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,375,623 (GRCm39) |
N546S |
probably benign |
Het |
| Sct |
A |
C |
7: 140,858,954 (GRCm39) |
|
probably benign |
Het |
| Slc22a12 |
T |
G |
19: 6,588,474 (GRCm39) |
H348P |
probably benign |
Het |
| Slc25a15 |
A |
G |
8: 22,873,248 (GRCm39) |
S143P |
probably damaging |
Het |
| Slc26a11 |
C |
A |
11: 119,247,657 (GRCm39) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,427,625 (GRCm39) |
M428T |
probably damaging |
Het |
| Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
| Smoc1 |
G |
T |
12: 81,214,425 (GRCm39) |
W269L |
probably damaging |
Het |
| Sox5 |
C |
T |
6: 143,807,109 (GRCm39) |
|
probably null |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Sptbn5 |
T |
A |
2: 119,907,703 (GRCm39) |
|
noncoding transcript |
Het |
| Sun5 |
G |
A |
2: 153,707,283 (GRCm39) |
R132* |
probably null |
Het |
| Tedc2 |
A |
G |
17: 24,435,354 (GRCm39) |
V345A |
probably benign |
Het |
| Tlr6 |
T |
A |
5: 65,111,739 (GRCm39) |
R389S |
probably benign |
Het |
| Ttc17 |
G |
T |
2: 94,202,113 (GRCm39) |
H396Q |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,383 (GRCm39) |
S2340P |
probably damaging |
Het |
| Vmn1r219 |
C |
T |
13: 23,346,999 (GRCm39) |
Q63* |
probably null |
Het |
| Vmn1r224 |
A |
G |
17: 20,639,902 (GRCm39) |
T160A |
possibly damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,195,436 (GRCm39) |
N630S |
probably damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,109,549 (GRCm39) |
C80S |
possibly damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,498 (GRCm39) |
V224A |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,822,250 (GRCm39) |
N271S |
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 |
|
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'- GACTTCTACCTGTGGTCCAC -3'
(R):5'- ACAGGCTAAGCTCAGGAGAC -3'
Sequencing Primer
(F):5'- AGCTCACTCTGGTAGCTCTTCAG -3'
(R):5'- CTGGAGAAAGAACGAGCCATG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation