Incidental Mutation 'R2128:Pakap'
ID |
227708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pakap
|
Ensembl Gene |
ENSMUSG00000089945 |
Gene Name |
paralemmin A kinase anchor protein |
Synonyms |
Palm2-Akap2, Akap2, AKAP-KL, Palm2Akap2, Gm20459, AF064781, B230340M18Rik, 53-H12, pEN70, Palm2 |
MMRRC Submission |
040131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.107)
|
Stock # |
R2128 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57854890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 134
(Y134C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120325
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107600]
[ENSMUST00000132497]
[ENSMUST00000124581]
[ENSMUST00000107598]
[ENSMUST00000126465]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043456
AA Change: Y73C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000048678 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
568 |
885 |
2.5e-17 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
1.6e-5 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098064
AA Change: Y73C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000095672 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
569 |
872 |
4e-13 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
2.9e-5 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000098065
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000098066
|
SMART Domains |
Protein: ENSMUSP00000095674 Gene: ENSMUSG00000089945
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102902
AA Change: Y73C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000099966 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
585 |
602 |
3.5e-5 |
PFAM |
coiled coil region
|
730 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102903
AA Change: Y73C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000099967 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
585 |
602 |
3.5e-5 |
PFAM |
coiled coil region
|
730 |
766 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107600
AA Change: Y114C
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000103226 Gene: ENSMUSG00000038729 AA Change: Y114C
Domain | Start | End | E-Value | Type |
low complexity region
|
193 |
204 |
N/A |
INTRINSIC |
low complexity region
|
254 |
268 |
N/A |
INTRINSIC |
coiled coil region
|
297 |
355 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
636 |
913 |
2.8e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132497
AA Change: Y134C
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124581
AA Change: Y73C
PolyPhen 2
Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000119742 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107598
AA Change: Y73C
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000103224 Gene: ENSMUSG00000038729 AA Change: Y73C
Domain | Start | End | E-Value | Type |
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
low complexity region
|
213 |
227 |
N/A |
INTRINSIC |
coiled coil region
|
256 |
314 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
569 |
872 |
4e-13 |
PFAM |
Pfam:RII_binding_1
|
585 |
602 |
2.9e-5 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000150412
AA Change: Y316C
|
SMART Domains |
Protein: ENSMUSP00000117466 Gene: ENSMUSG00000089945 AA Change: Y316C
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
low complexity region
|
35 |
59 |
N/A |
INTRINSIC |
Pfam:Paralemmin
|
115 |
269 |
6.5e-23 |
PFAM |
low complexity region
|
396 |
407 |
N/A |
INTRINSIC |
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
coiled coil region
|
499 |
557 |
N/A |
INTRINSIC |
Pfam:AKAP2_C
|
847 |
1129 |
1.9e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126465
|
SMART Domains |
Protein: ENSMUSP00000130230 Gene: ENSMUSG00000089945
Domain | Start | End | E-Value | Type |
Pfam:Paralemmin
|
67 |
138 |
6.3e-23 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Palm2 (paralemmin 2) and Akap2 (A kinase (PRKA) anchor protein 2) genes on chromosome 4. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. Similar readthrough transcription has also been observed in human, as described in PMID: 11478809. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 94 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,066,066 (GRCm39) |
E249G |
possibly damaging |
Het |
2610028H24Rik |
A |
G |
10: 76,293,349 (GRCm39) |
M136V |
possibly damaging |
Het |
4930523C07Rik |
A |
T |
1: 159,902,945 (GRCm39) |
K72* |
probably null |
Het |
Abca6 |
A |
G |
11: 110,110,475 (GRCm39) |
I558T |
probably benign |
Het |
Acot10 |
T |
C |
15: 20,666,712 (GRCm39) |
T10A |
probably benign |
Het |
Adgrl4 |
T |
A |
3: 151,205,838 (GRCm39) |
D233E |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,705,199 (GRCm39) |
F1537Y |
probably damaging |
Het |
Aqp3 |
T |
A |
4: 41,098,061 (GRCm39) |
I17F |
probably benign |
Het |
Arap1 |
T |
A |
7: 101,058,527 (GRCm39) |
L1375H |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,385,373 (GRCm39) |
V339A |
probably benign |
Het |
Atp13a3 |
G |
A |
16: 30,173,094 (GRCm39) |
A261V |
probably damaging |
Het |
Casp8ap2 |
T |
C |
4: 32,640,142 (GRCm39) |
Y399H |
probably benign |
Het |
Cept1 |
A |
G |
3: 106,420,195 (GRCm39) |
V213A |
probably damaging |
Het |
Cit |
A |
G |
5: 116,123,566 (GRCm39) |
D1469G |
possibly damaging |
Het |
Cnga2 |
A |
G |
X: 71,051,394 (GRCm39) |
Y182C |
possibly damaging |
Het |
Cox20 |
A |
G |
1: 178,149,512 (GRCm39) |
I54V |
probably benign |
Het |
Dhx8 |
C |
A |
11: 101,629,235 (GRCm39) |
D261E |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,349,011 (GRCm39) |
I2486N |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,408,467 (GRCm39) |
Q3484R |
probably benign |
Het |
Drd1 |
T |
C |
13: 54,207,572 (GRCm39) |
Y207C |
probably damaging |
Het |
Dtl |
C |
T |
1: 191,290,222 (GRCm39) |
V222I |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,607,316 (GRCm39) |
Y2636H |
probably damaging |
Het |
Endog |
C |
A |
2: 30,062,048 (GRCm39) |
D154E |
probably benign |
Het |
Epc1 |
A |
T |
18: 6,462,954 (GRCm39) |
V14E |
probably damaging |
Het |
Ercc4 |
C |
A |
16: 12,965,798 (GRCm39) |
T810K |
probably damaging |
Het |
Fam43b |
T |
A |
4: 138,123,299 (GRCm39) |
N7I |
possibly damaging |
Het |
Fgd1 |
T |
C |
X: 149,869,213 (GRCm39) |
|
probably null |
Het |
Filip1 |
G |
T |
9: 79,726,612 (GRCm39) |
T669N |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,997,497 (GRCm39) |
|
probably benign |
Het |
Foxk1 |
C |
A |
5: 142,420,943 (GRCm39) |
S189* |
probably null |
Het |
Gatm |
T |
C |
2: 122,431,017 (GRCm39) |
N274S |
probably damaging |
Het |
Gdf9 |
A |
G |
11: 53,328,334 (GRCm39) |
Y430C |
probably damaging |
Het |
Gga1 |
C |
T |
15: 78,772,648 (GRCm39) |
P260S |
probably damaging |
Het |
Gm11595 |
A |
T |
11: 99,663,327 (GRCm39) |
C118S |
unknown |
Het |
Gm382 |
G |
T |
X: 125,970,274 (GRCm39) |
V820L |
possibly damaging |
Het |
Gzmk |
T |
A |
13: 113,308,548 (GRCm39) |
I179F |
probably damaging |
Het |
Hsp90b1 |
T |
C |
10: 86,531,570 (GRCm39) |
D421G |
probably damaging |
Het |
Hus1 |
A |
G |
11: 8,956,011 (GRCm39) |
M174T |
probably damaging |
Het |
Ifngr2 |
T |
A |
16: 91,359,761 (GRCm39) |
Y289* |
probably null |
Het |
Il6st |
T |
A |
13: 112,640,709 (GRCm39) |
H828Q |
probably benign |
Het |
Impg2 |
T |
A |
16: 56,038,742 (GRCm39) |
Y127N |
probably damaging |
Het |
Irf3 |
T |
A |
7: 44,651,168 (GRCm39) |
W345R |
probably damaging |
Het |
Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
Klhl42 |
A |
G |
6: 147,003,251 (GRCm39) |
T342A |
probably benign |
Het |
Kndc1 |
G |
T |
7: 139,510,025 (GRCm39) |
R1289L |
probably damaging |
Het |
Knl1 |
A |
T |
2: 118,902,300 (GRCm39) |
T1334S |
possibly damaging |
Het |
L3mbtl3 |
G |
T |
10: 26,189,766 (GRCm39) |
D499E |
unknown |
Het |
Ldhd |
T |
A |
8: 112,353,680 (GRCm39) |
M478L |
probably benign |
Het |
Loxl4 |
C |
G |
19: 42,592,402 (GRCm39) |
E385D |
probably damaging |
Het |
Lrriq1 |
G |
A |
10: 103,050,718 (GRCm39) |
T678I |
probably benign |
Het |
Macf1 |
T |
A |
4: 123,386,567 (GRCm39) |
I1017F |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,501,406 (GRCm39) |
E157G |
possibly damaging |
Het |
Mamdc4 |
T |
C |
2: 25,459,270 (GRCm39) |
D195G |
probably damaging |
Het |
Mctp1 |
A |
G |
13: 76,972,941 (GRCm39) |
D648G |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,438,666 (GRCm39) |
M2072V |
probably benign |
Het |
Nck1 |
A |
G |
9: 100,379,600 (GRCm39) |
|
probably null |
Het |
Ndufaf4 |
G |
T |
4: 24,898,608 (GRCm39) |
D55Y |
probably damaging |
Het |
Nek11 |
A |
T |
9: 105,177,560 (GRCm39) |
D230E |
probably benign |
Het |
Nit2 |
T |
C |
16: 56,981,559 (GRCm39) |
K67E |
possibly damaging |
Het |
Or12j2 |
C |
T |
7: 139,916,342 (GRCm39) |
T189M |
probably damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,701 (GRCm39) |
F238S |
probably damaging |
Het |
Or6a2 |
T |
C |
7: 106,600,455 (GRCm39) |
D204G |
probably damaging |
Het |
Or6c1 |
A |
T |
10: 129,518,401 (GRCm39) |
V69E |
possibly damaging |
Het |
Pccb |
G |
C |
9: 100,867,884 (GRCm39) |
D347E |
probably damaging |
Het |
Plcl1 |
T |
A |
1: 55,736,997 (GRCm39) |
F779L |
probably damaging |
Het |
Prune2 |
C |
A |
19: 17,099,786 (GRCm39) |
D1763E |
probably benign |
Het |
Pwwp2a |
A |
G |
11: 43,596,145 (GRCm39) |
S437G |
probably benign |
Het |
Rabgap1l |
A |
T |
1: 160,566,527 (GRCm39) |
D90E |
probably benign |
Het |
Rapgef4 |
T |
A |
2: 72,056,897 (GRCm39) |
I552N |
possibly damaging |
Het |
Scn7a |
A |
T |
2: 66,528,330 (GRCm39) |
I720K |
probably damaging |
Het |
Scn9a |
T |
A |
2: 66,356,998 (GRCm39) |
N1101I |
probably damaging |
Het |
Siglec1 |
A |
T |
2: 130,922,417 (GRCm39) |
Y553N |
probably damaging |
Het |
Slc22a23 |
A |
G |
13: 34,387,953 (GRCm39) |
L381P |
possibly damaging |
Het |
Slc7a11 |
T |
A |
3: 50,338,558 (GRCm39) |
T284S |
probably damaging |
Het |
Slc8a2 |
T |
A |
7: 15,874,417 (GRCm39) |
|
probably null |
Het |
Snx29 |
T |
A |
16: 11,218,835 (GRCm39) |
S224T |
probably damaging |
Het |
Stimate |
T |
C |
14: 30,588,581 (GRCm39) |
Y103H |
probably damaging |
Het |
Stox1 |
T |
C |
10: 62,500,314 (GRCm39) |
T749A |
probably benign |
Het |
Tg |
A |
G |
15: 66,566,743 (GRCm39) |
I1264V |
probably benign |
Het |
Top2a |
A |
C |
11: 98,900,633 (GRCm39) |
V609G |
probably damaging |
Het |
Trmt44 |
G |
A |
5: 35,732,176 (GRCm39) |
P72S |
probably benign |
Het |
Ttll3 |
G |
C |
6: 113,389,895 (GRCm39) |
S760T |
probably benign |
Het |
Ttn |
T |
C |
2: 76,579,022 (GRCm39) |
D23957G |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,664,241 (GRCm39) |
|
probably benign |
Het |
Ubxn1 |
T |
G |
19: 8,849,434 (GRCm39) |
V59G |
probably benign |
Het |
Ubxn4 |
T |
C |
1: 128,172,247 (GRCm39) |
S14P |
probably benign |
Het |
Uso1 |
T |
A |
5: 92,343,229 (GRCm39) |
M771K |
probably benign |
Het |
Utp20 |
A |
G |
10: 88,649,917 (GRCm39) |
F431S |
probably damaging |
Het |
Vmn1r206 |
T |
C |
13: 22,804,782 (GRCm39) |
S142G |
probably benign |
Het |
Vmn2r19 |
A |
G |
6: 123,285,289 (GRCm39) |
|
probably null |
Het |
Vps36 |
G |
T |
8: 22,708,305 (GRCm39) |
|
probably null |
Het |
Wnt3 |
A |
G |
11: 103,703,474 (GRCm39) |
H319R |
possibly damaging |
Het |
Zbtb26 |
G |
T |
2: 37,326,563 (GRCm39) |
Q158K |
probably benign |
Het |
Zfp648 |
T |
C |
1: 154,080,353 (GRCm39) |
S171P |
probably benign |
Het |
|
Other mutations in Pakap |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:Pakap
|
APN |
4 |
57,757,627 (GRCm39) |
nonsense |
probably null |
|
IGL01371:Pakap
|
APN |
4 |
57,856,325 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01647:Pakap
|
APN |
4 |
57,688,477 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01733:Pakap
|
APN |
4 |
57,856,488 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02677:Pakap
|
APN |
4 |
57,856,263 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02696:Pakap
|
APN |
4 |
57,854,663 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02736:Pakap
|
APN |
4 |
57,709,721 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03067:Pakap
|
APN |
4 |
57,648,038 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03343:Pakap
|
APN |
4 |
57,688,502 (GRCm39) |
missense |
probably damaging |
1.00 |
A9681:Pakap
|
UTSW |
4 |
57,855,358 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02835:Pakap
|
UTSW |
4 |
57,883,044 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4305001:Pakap
|
UTSW |
4 |
57,638,029 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0158:Pakap
|
UTSW |
4 |
57,709,649 (GRCm39) |
missense |
possibly damaging |
0.96 |
R0244:Pakap
|
UTSW |
4 |
57,710,177 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0284:Pakap
|
UTSW |
4 |
57,855,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0356:Pakap
|
UTSW |
4 |
57,855,628 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0594:Pakap
|
UTSW |
4 |
57,856,752 (GRCm39) |
missense |
probably benign |
0.00 |
R0614:Pakap
|
UTSW |
4 |
57,856,720 (GRCm39) |
missense |
probably benign |
0.41 |
R0617:Pakap
|
UTSW |
4 |
57,829,434 (GRCm39) |
intron |
probably benign |
|
R0763:Pakap
|
UTSW |
4 |
57,688,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R0800:Pakap
|
UTSW |
4 |
57,709,650 (GRCm39) |
missense |
probably benign |
0.06 |
R1228:Pakap
|
UTSW |
4 |
57,856,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Pakap
|
UTSW |
4 |
57,709,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R1895:Pakap
|
UTSW |
4 |
57,638,068 (GRCm39) |
missense |
probably benign |
0.01 |
R1913:Pakap
|
UTSW |
4 |
57,892,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R2081:Pakap
|
UTSW |
4 |
57,855,927 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2339:Pakap
|
UTSW |
4 |
57,883,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R4600:Pakap
|
UTSW |
4 |
57,709,954 (GRCm39) |
missense |
probably benign |
0.26 |
R4667:Pakap
|
UTSW |
4 |
57,855,655 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4804:Pakap
|
UTSW |
4 |
57,854,688 (GRCm39) |
missense |
probably benign |
0.05 |
R4989:Pakap
|
UTSW |
4 |
57,856,552 (GRCm39) |
missense |
probably benign |
|
R5135:Pakap
|
UTSW |
4 |
57,855,912 (GRCm39) |
missense |
probably benign |
0.00 |
R5292:Pakap
|
UTSW |
4 |
57,855,356 (GRCm39) |
missense |
probably damaging |
0.98 |
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
R5420:Pakap
|
UTSW |
4 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
R5442:Pakap
|
UTSW |
4 |
57,637,876 (GRCm39) |
missense |
probably null |
|
R5517:Pakap
|
UTSW |
4 |
57,855,987 (GRCm39) |
missense |
probably damaging |
0.99 |
R5648:Pakap
|
UTSW |
4 |
57,854,848 (GRCm39) |
missense |
probably damaging |
1.00 |
R5886:Pakap
|
UTSW |
4 |
57,856,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R5993:Pakap
|
UTSW |
4 |
57,855,273 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6133:Pakap
|
UTSW |
4 |
57,855,516 (GRCm39) |
nonsense |
probably null |
|
R6189:Pakap
|
UTSW |
4 |
57,855,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6221:Pakap
|
UTSW |
4 |
57,855,618 (GRCm39) |
nonsense |
probably null |
|
R6320:Pakap
|
UTSW |
4 |
57,710,173 (GRCm39) |
missense |
probably damaging |
1.00 |
R6365:Pakap
|
UTSW |
4 |
57,709,675 (GRCm39) |
nonsense |
probably null |
|
R6532:Pakap
|
UTSW |
4 |
57,855,174 (GRCm39) |
missense |
probably benign |
0.00 |
R6760:Pakap
|
UTSW |
4 |
57,856,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R6792:Pakap
|
UTSW |
4 |
57,855,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6983:Pakap
|
UTSW |
4 |
57,709,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R7090:Pakap
|
UTSW |
4 |
57,648,042 (GRCm39) |
missense |
probably benign |
0.00 |
R7128:Pakap
|
UTSW |
4 |
57,855,816 (GRCm39) |
missense |
probably benign |
0.03 |
R7269:Pakap
|
UTSW |
4 |
57,855,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R7726:Pakap
|
UTSW |
4 |
57,709,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Pakap
|
UTSW |
4 |
57,709,519 (GRCm39) |
missense |
probably damaging |
0.97 |
R7837:Pakap
|
UTSW |
4 |
57,855,262 (GRCm39) |
missense |
probably damaging |
1.00 |
R7940:Pakap
|
UTSW |
4 |
57,883,026 (GRCm39) |
missense |
probably damaging |
0.98 |
R7946:Pakap
|
UTSW |
4 |
57,710,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R8094:Pakap
|
UTSW |
4 |
57,886,319 (GRCm39) |
missense |
possibly damaging |
0.81 |
R8275:Pakap
|
UTSW |
4 |
57,886,329 (GRCm39) |
critical splice donor site |
probably null |
|
R8702:Pakap
|
UTSW |
4 |
57,709,489 (GRCm39) |
nonsense |
probably null |
|
R8836:Pakap
|
UTSW |
4 |
57,709,916 (GRCm39) |
missense |
probably benign |
0.01 |
R9010:Pakap
|
UTSW |
4 |
57,883,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Pakap
|
UTSW |
4 |
57,637,857 (GRCm39) |
missense |
unknown |
|
R9060:Pakap
|
UTSW |
4 |
57,855,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R9215:Pakap
|
UTSW |
4 |
57,709,595 (GRCm39) |
missense |
probably damaging |
0.97 |
R9652:Pakap
|
UTSW |
4 |
57,710,125 (GRCm39) |
missense |
possibly damaging |
0.51 |
X0065:Pakap
|
UTSW |
4 |
57,709,805 (GRCm39) |
missense |
probably benign |
|
Z1177:Pakap
|
UTSW |
4 |
57,856,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTACCTGGAGTCACCTCTACC -3'
(R):5'- AGTGTGAACTCCCCATCTCG -3'
Sequencing Primer
(F):5'- CCCCCATTCCAAGGACCACTC -3'
(R):5'- TGTTCCCCAGCAGGTCTTGG -3'
|
Posted On |
2014-09-17 |