Incidental Mutation 'R6189:Pakap'
| ID |
502365 |
| 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 |
044329-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6189 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
57434475-57896984 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57855928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 419
(E419G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103224
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043456]
[ENSMUST00000098064]
[ENSMUST00000098066]
[ENSMUST00000102902]
[ENSMUST00000102903]
[ENSMUST00000107598]
[ENSMUST00000107600]
[ENSMUST00000126465]
[ENSMUST00000124581]
[ENSMUST00000132497]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043456
AA Change: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: E419G
| 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: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: E419G
| 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: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: E419G
| 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: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: E419G
| 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: E419G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: E419G
| 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: E460G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: E460G
| 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 |
unknown
Transcript: ENSMUST00000150412
AA Change: E662G
|
| SMART Domains |
Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: E662G
| 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 |
|
| 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: ENSMUST00000132497
|
| Meta Mutation Damage Score |
0.0749 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
97% (74/76) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,474,222 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,921,710 (GRCm39) |
D1448G |
probably damaging |
Het |
| Actn2 |
C |
T |
13: 12,291,326 (GRCm39) |
D693N |
probably damaging |
Het |
| Adam3 |
A |
C |
8: 25,201,352 (GRCm39) |
I267R |
probably benign |
Het |
| Aldh1l2 |
A |
G |
10: 83,343,877 (GRCm39) |
|
probably null |
Het |
| C4bp |
T |
C |
1: 130,564,556 (GRCm39) |
Y376C |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,616,818 (GRCm39) |
W101R |
probably damaging |
Het |
| Ccdc97 |
T |
A |
7: 25,415,523 (GRCm39) |
T47S |
probably benign |
Het |
| Cenatac |
G |
A |
9: 44,321,618 (GRCm39) |
R328C |
probably benign |
Het |
| Cnot6l |
G |
A |
5: 96,246,136 (GRCm39) |
T171I |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,248,232 (GRCm39) |
S1213T |
probably damaging |
Het |
| Cxcl10 |
A |
T |
5: 92,495,972 (GRCm39) |
L55Q |
probably benign |
Het |
| Cyp1a1 |
T |
C |
9: 57,607,966 (GRCm39) |
V198A |
probably damaging |
Het |
| Dclre1b |
A |
G |
3: 103,710,849 (GRCm39) |
V354A |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,026,402 (GRCm39) |
H1837Y |
probably benign |
Het |
| Dnajc13 |
G |
C |
9: 104,091,085 (GRCm39) |
D665E |
probably benign |
Het |
| Dnmbp |
T |
C |
19: 43,878,748 (GRCm39) |
T108A |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,889,950 (GRCm39) |
T606S |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,642,771 (GRCm39) |
I23N |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,385,399 (GRCm39) |
F311I |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,083,075 (GRCm39) |
M1059L |
probably benign |
Het |
| Fbxo40 |
A |
G |
16: 36,786,526 (GRCm39) |
I681T |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,381 (GRCm39) |
C2098S |
unknown |
Het |
| Gpr87 |
T |
A |
3: 59,086,650 (GRCm39) |
D285V |
probably damaging |
Het |
| Hrh1 |
T |
A |
6: 114,456,959 (GRCm39) |
V80D |
probably damaging |
Het |
| Hunk |
G |
A |
16: 90,284,769 (GRCm39) |
R351K |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,521,248 (GRCm39) |
W100R |
probably damaging |
Het |
| Ift57 |
G |
A |
16: 49,584,176 (GRCm39) |
G310S |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 67,857,084 (GRCm39) |
Y1015* |
probably null |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,432 (GRCm39) |
I96T |
probably damaging |
Het |
| Il34 |
C |
T |
8: 111,469,350 (GRCm39) |
S155N |
probably benign |
Het |
| Itga7 |
T |
C |
10: 128,786,272 (GRCm39) |
S938P |
possibly damaging |
Het |
| Itgam |
A |
G |
7: 127,711,676 (GRCm39) |
M764V |
probably benign |
Het |
| Lao1 |
T |
A |
4: 118,825,077 (GRCm39) |
M299K |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,787,001 (GRCm39) |
S533T |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,305,579 (GRCm39) |
V283A |
possibly damaging |
Het |
| Magi3 |
G |
T |
3: 103,958,181 (GRCm39) |
H635N |
probably damaging |
Het |
| Mecr |
A |
T |
4: 131,592,565 (GRCm39) |
|
probably null |
Het |
| Mgrn1 |
T |
C |
16: 4,728,674 (GRCm39) |
|
probably null |
Het |
| Mical2 |
A |
C |
7: 112,012,087 (GRCm39) |
N646H |
probably damaging |
Het |
| Mymk |
C |
T |
2: 26,957,377 (GRCm39) |
V39I |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,880 (GRCm39) |
S1684G |
probably damaging |
Het |
| Ntn5 |
A |
T |
7: 45,342,644 (GRCm39) |
D330V |
probably benign |
Het |
| Nup42 |
G |
T |
5: 24,380,452 (GRCm39) |
G149V |
probably damaging |
Het |
| Nutm2 |
T |
A |
13: 50,623,774 (GRCm39) |
V157D |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,960,760 (GRCm39) |
I3460V |
probably benign |
Het |
| Or8u10 |
A |
T |
2: 85,915,257 (GRCm39) |
M288K |
possibly damaging |
Het |
| Pcdh15 |
C |
T |
10: 74,178,483 (GRCm39) |
A580V |
probably null |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,456 (GRCm39) |
H177Q |
probably damaging |
Het |
| Pitx2 |
T |
C |
3: 129,012,118 (GRCm39) |
Y130H |
probably damaging |
Het |
| Pmch |
G |
T |
10: 87,927,248 (GRCm39) |
|
probably null |
Het |
| Pofut2 |
T |
A |
10: 77,104,420 (GRCm39) |
I399N |
probably damaging |
Het |
| Prr36 |
C |
A |
8: 4,264,177 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
C |
A |
10: 107,353,748 (GRCm39) |
C2256F |
probably damaging |
Het |
| Rassf5 |
G |
A |
1: 131,172,716 (GRCm39) |
A51V |
probably damaging |
Het |
| Retnla |
A |
G |
16: 48,663,258 (GRCm39) |
I54V |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,880,961 (GRCm39) |
L142P |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,216,484 (GRCm39) |
T564A |
probably benign |
Het |
| Robo4 |
G |
A |
9: 37,314,829 (GRCm39) |
E228K |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Rusc1 |
A |
T |
3: 88,996,319 (GRCm39) |
L132Q |
probably damaging |
Het |
| Serpinb9h |
A |
T |
13: 33,588,427 (GRCm39) |
E337D |
probably benign |
Het |
| Setd1a |
T |
C |
7: 127,377,455 (GRCm39) |
|
probably null |
Het |
| Slc38a6 |
A |
T |
12: 73,356,970 (GRCm39) |
K122M |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,691 (GRCm39) |
I160T |
probably benign |
Het |
| Susd5 |
A |
T |
9: 113,924,726 (GRCm39) |
D203V |
probably damaging |
Het |
| Trip4 |
G |
A |
9: 65,786,434 (GRCm39) |
R110* |
probably null |
Het |
| Tuba4a |
T |
A |
1: 75,193,518 (GRCm39) |
I95F |
probably benign |
Het |
| Ube2q2 |
T |
A |
9: 55,070,267 (GRCm39) |
S70T |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,215,256 (GRCm39) |
I1027V |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,630 (GRCm39) |
V2917I |
probably benign |
Het |
| Vmn1r70 |
T |
A |
7: 10,367,598 (GRCm39) |
C29S |
probably benign |
Het |
| Vmn2r94 |
A |
T |
17: 18,477,996 (GRCm39) |
D138E |
probably benign |
Het |
| Wee2 |
C |
T |
6: 40,426,617 (GRCm39) |
H129Y |
probably damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp872 |
A |
T |
9: 22,108,427 (GRCm39) |
D42V |
probably benign |
Het |
| Zic5 |
T |
G |
14: 122,702,386 (GRCm39) |
D115A |
unknown |
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 |
|
|
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'- AGAATTCCAGGCAGACACTGG -3'
(R):5'- CTCCTCCTGAGTCAAAGATACATTG -3'
Sequencing Primer
(F):5'- GCAGACACTGGCCAAGG -3'
(R):5'- GACCGATCTTGAAAATTGGTCC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation