Incidental Mutation 'R7128:Pakap'
| ID |
552447 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R7128 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57855816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 382
(S382P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
[ENSMUST00000124581]
[ENSMUST00000126465]
[ENSMUST00000132497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043456
AA Change: S382P
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: S382P
| 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: S382P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: S382P
| 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 |
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: S382P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: S382P
| 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: S382P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: S382P
| 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: ENSMUST00000107598
AA Change: S382P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: S382P
| 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 |
probably benign
Transcript: ENSMUST00000107600
AA Change: S423P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: S423P
| 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: ENSMUST00000124581
|
| SMART Domains |
Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
163 |
N/A |
INTRINSIC |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132497
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: S625P
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,347,985 (GRCm39) |
D25G |
probably benign |
Het |
| Ak9 |
T |
C |
10: 41,300,713 (GRCm39) |
V1641A |
unknown |
Het |
| Akirin2 |
T |
C |
4: 34,562,435 (GRCm39) |
I118T |
probably benign |
Het |
| Aldh1l1 |
G |
T |
6: 90,540,361 (GRCm39) |
Q215H |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,326,971 (GRCm39) |
F495L |
possibly damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,553,063 (GRCm39) |
R93* |
probably null |
Het |
| Brd10 |
T |
C |
19: 29,693,881 (GRCm39) |
T1871A |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,662 (GRCm39) |
I120V |
probably benign |
Het |
| Cavin2 |
A |
G |
1: 51,328,579 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Cenpf |
A |
T |
1: 189,417,188 (GRCm39) |
F39Y |
probably damaging |
Het |
| Chfr |
T |
C |
5: 110,291,502 (GRCm39) |
Y107H |
probably benign |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Defb4 |
T |
A |
8: 19,251,220 (GRCm39) |
I29K |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,566,645 (GRCm39) |
T619A |
probably benign |
Het |
| Duxf1 |
T |
C |
10: 58,059,479 (GRCm39) |
Q425R |
unknown |
Het |
| Emc3 |
A |
G |
6: 113,494,881 (GRCm39) |
L179P |
probably damaging |
Het |
| Eno3 |
G |
C |
11: 70,549,430 (GRCm39) |
V84L |
possibly damaging |
Het |
| Fam110a |
C |
T |
2: 151,812,642 (GRCm39) |
V43M |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,165,860 (GRCm39) |
L194* |
probably null |
Het |
| Galnt14 |
T |
C |
17: 73,852,096 (GRCm39) |
T108A |
probably benign |
Het |
| Glipr2 |
T |
C |
4: 43,968,601 (GRCm39) |
I51T |
probably benign |
Het |
| Gm1527 |
C |
T |
3: 28,969,460 (GRCm39) |
S270F |
possibly damaging |
Het |
| Gm3336 |
A |
G |
8: 71,171,203 (GRCm39) |
M1V |
probably null |
Het |
| Gm4744 |
T |
C |
6: 40,927,310 (GRCm39) |
D15G |
|
Het |
| Gm4924 |
G |
A |
10: 82,214,533 (GRCm39) |
C777Y |
unknown |
Het |
| Gm5901 |
G |
A |
7: 105,027,408 (GRCm39) |
G306S |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,802,999 (GRCm39) |
N1203K |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,138,026 (GRCm39) |
Y204F |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,236,326 (GRCm39) |
E1285G |
probably benign |
Het |
| Irx6 |
T |
C |
8: 93,403,994 (GRCm39) |
L187P |
probably damaging |
Het |
| Itgb1bp1 |
A |
G |
12: 21,322,089 (GRCm39) |
Y117H |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,358,143 (GRCm39) |
D202Y |
possibly damaging |
Het |
| Kctd9 |
T |
C |
14: 67,975,972 (GRCm39) |
S242P |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,686,088 (GRCm39) |
H2143R |
probably benign |
Het |
| Lynx1 |
G |
A |
15: 74,623,398 (GRCm39) |
R50* |
probably null |
Het |
| Lypd11 |
C |
T |
7: 24,425,424 (GRCm39) |
|
probably null |
Het |
| Map10 |
A |
G |
8: 126,398,592 (GRCm39) |
I662V |
probably benign |
Het |
| Mlxipl |
T |
C |
5: 135,162,705 (GRCm39) |
L691P |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,554,300 (GRCm39) |
S3998P |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,831,914 (GRCm39) |
V120E |
probably damaging |
Het |
| Nfat5 |
T |
C |
8: 108,085,323 (GRCm39) |
S539P |
probably benign |
Het |
| Olfml3 |
T |
C |
3: 103,644,484 (GRCm39) |
M62V |
probably benign |
Het |
| Orm3 |
T |
C |
4: 63,276,062 (GRCm39) |
V158A |
probably benign |
Het |
| Pced1b |
A |
T |
15: 97,282,479 (GRCm39) |
K173* |
probably null |
Het |
| Pdzd7 |
T |
C |
19: 45,016,388 (GRCm39) |
D911G |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,973,327 (GRCm39) |
D383G |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,725,292 (GRCm39) |
E46G |
probably benign |
Het |
| Pyroxd2 |
A |
T |
19: 42,719,842 (GRCm39) |
S455T |
probably benign |
Het |
| Rmnd5b |
T |
A |
11: 51,515,364 (GRCm39) |
I301F |
possibly damaging |
Het |
| Rnf225 |
A |
G |
7: 12,661,911 (GRCm39) |
N30S |
probably benign |
Het |
| Shisal2a |
G |
T |
4: 108,225,100 (GRCm39) |
T154K |
probably benign |
Het |
| Slfn3 |
T |
A |
11: 83,105,721 (GRCm39) |
C573S |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,351,632 (GRCm39) |
E887G |
probably damaging |
Het |
| Sp140 |
A |
T |
1: 85,547,846 (GRCm39) |
D191V |
possibly damaging |
Het |
| Srf |
C |
T |
17: 46,866,372 (GRCm39) |
S128N |
possibly damaging |
Het |
| Sult6b1 |
T |
C |
17: 79,202,070 (GRCm39) |
D144G |
probably damaging |
Het |
| Syne1 |
G |
A |
10: 5,193,180 (GRCm39) |
A3956V |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,698,314 (GRCm39) |
D343E |
probably damaging |
Het |
| Tgtp2 |
G |
A |
11: 48,950,135 (GRCm39) |
R146C |
possibly damaging |
Het |
| Tmcc3 |
A |
T |
10: 94,266,496 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
T |
6: 125,338,499 (GRCm39) |
T337S |
probably benign |
Het |
| Tns1 |
A |
T |
1: 74,034,463 (GRCm39) |
I144N |
|
Het |
| Trim11 |
A |
G |
11: 58,869,103 (GRCm39) |
E13G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,789,137 (GRCm39) |
H569L |
possibly damaging |
Het |
| Ttbk2 |
T |
A |
2: 120,576,569 (GRCm39) |
I803L |
probably benign |
Het |
| Vmn1r21 |
G |
T |
6: 57,820,936 (GRCm39) |
N169K |
probably damaging |
Het |
| Vmn2r60 |
C |
T |
7: 41,844,536 (GRCm39) |
T633I |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,957,670 (GRCm39) |
Y177H |
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 |
|
R2128:Pakap
|
UTSW |
4 |
57,854,890 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
57,856,062 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5420:Pakap
|
UTSW |
4 |
57,856,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- ACACCTAGATGGCATTGAACAC -3'
(R):5'- GGCACTTGTGAACTCTCCATC -3'
Sequencing Primer
(F):5'- CCTAGATGGCATTGAACACACAAAGG -3'
(R):5'- CTCTGCCCACAGTTTAGATAAGGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation