Incidental Mutation 'R2132:Akap13'
| ID |
233391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap13
|
| Ensembl Gene |
ENSMUSG00000066406 |
| Gene Name |
A kinase anchor protein 13 |
| Synonyms |
PROTO-LB, Ht31, 5830460E08Rik, 5730522G15Rik, 1700026G02Rik, PROTO-LBC, AKAP-Lbc |
| MMRRC Submission |
040135-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
75105282-75404357 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 75261182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 1269
(A1269S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166315]
[ENSMUST00000207750]
[ENSMUST00000207923]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147005
AA Change: A1269S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000117686
Gene: ENSMUSG00000066406
AA Change: A1269S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
184 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
485 |
695 |
4.85e-5 |
PROSPERO |
|
low complexity region
|
773 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1032 |
N/A |
INTRINSIC |
|
Pfam:RII_binding_1
|
1218 |
1235 |
4.3e-6 |
PFAM |
|
low complexity region
|
1429 |
1444 |
N/A |
INTRINSIC |
|
low complexity region
|
1479 |
1501 |
N/A |
INTRINSIC |
|
low complexity region
|
1601 |
1612 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1768 |
N/A |
INTRINSIC |
|
C1
|
1773 |
1819 |
1.95e-4 |
SMART |
|
low complexity region
|
1876 |
1887 |
N/A |
INTRINSIC |
|
RhoGEF
|
1979 |
2171 |
1.28e-61 |
SMART |
|
PH
|
2213 |
2316 |
2.94e-11 |
SMART |
|
coiled coil region
|
2326 |
2363 |
N/A |
INTRINSIC |
|
low complexity region
|
2411 |
2430 |
N/A |
INTRINSIC |
|
low complexity region
|
2462 |
2472 |
N/A |
INTRINSIC |
|
coiled coil region
|
2551 |
2664 |
N/A |
INTRINSIC |
|
low complexity region
|
2746 |
2752 |
N/A |
INTRINSIC |
|
low complexity region
|
2758 |
2771 |
N/A |
INTRINSIC |
|
| Predicted Effect |
not run
Transcript: ENSMUST00000154740
AA Change: A111S
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166315
AA Change: A1269S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: A1269S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
174 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
773 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
896 |
908 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1032 |
N/A |
INTRINSIC |
|
low complexity region
|
1433 |
1448 |
N/A |
INTRINSIC |
|
low complexity region
|
1483 |
1505 |
N/A |
INTRINSIC |
|
low complexity region
|
1583 |
1594 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1750 |
N/A |
INTRINSIC |
|
C1
|
1755 |
1801 |
1.95e-4 |
SMART |
|
low complexity region
|
1858 |
1869 |
N/A |
INTRINSIC |
|
RhoGEF
|
1961 |
2153 |
1.28e-61 |
SMART |
|
PH
|
2195 |
2298 |
2.94e-11 |
SMART |
|
coiled coil region
|
2308 |
2345 |
N/A |
INTRINSIC |
|
low complexity region
|
2393 |
2412 |
N/A |
INTRINSIC |
|
low complexity region
|
2444 |
2454 |
N/A |
INTRINSIC |
|
coiled coil region
|
2533 |
2646 |
N/A |
INTRINSIC |
|
low complexity region
|
2728 |
2734 |
N/A |
INTRINSIC |
|
low complexity region
|
2740 |
2753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207079
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207750
AA Change: A1269S
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207923
AA Change: A466S
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208053
|
| Predicted Effect |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208456
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208182
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
94% (117/124) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,112,335 (GRCm39) |
|
probably benign |
Het |
| 4930562C15Rik |
A |
C |
16: 4,653,835 (GRCm39) |
Q128P |
unknown |
Het |
| Abcc3 |
T |
A |
11: 94,258,426 (GRCm39) |
K473M |
probably benign |
Het |
| Acacb |
TGGGG |
TGGG |
5: 114,347,828 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
C |
A |
16: 56,588,281 (GRCm39) |
A199S |
probably damaging |
Het |
| Aox3 |
A |
G |
1: 58,209,002 (GRCm39) |
H845R |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,215,587 (GRCm39) |
|
probably benign |
Het |
| Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
| Atp13a2 |
T |
A |
4: 140,732,327 (GRCm39) |
M864K |
probably damaging |
Het |
| B3gnt3 |
G |
A |
8: 72,145,971 (GRCm39) |
T186M |
probably damaging |
Het |
| Cars1 |
C |
A |
7: 143,146,211 (GRCm39) |
R71M |
probably damaging |
Het |
| Castor2 |
G |
A |
5: 134,164,992 (GRCm39) |
C187Y |
probably damaging |
Het |
| Ccdc157 |
A |
T |
11: 4,100,004 (GRCm39) |
V116E |
probably damaging |
Het |
| Ccdc85a |
G |
A |
11: 28,384,151 (GRCm39) |
T408I |
probably benign |
Het |
| Celf1 |
G |
T |
2: 90,840,791 (GRCm39) |
G353W |
probably damaging |
Het |
| Celsr1 |
T |
A |
15: 85,916,168 (GRCm39) |
I602F |
possibly damaging |
Het |
| Cenpb |
C |
T |
2: 131,021,226 (GRCm39) |
V191M |
probably damaging |
Het |
| Cenpn |
G |
A |
8: 117,661,536 (GRCm39) |
|
probably null |
Het |
| Cfap65 |
A |
C |
1: 74,946,850 (GRCm39) |
C1287G |
probably damaging |
Het |
| Cmya5 |
G |
A |
13: 93,205,891 (GRCm39) |
T3326I |
probably damaging |
Het |
| Cnn3 |
A |
T |
3: 121,245,584 (GRCm39) |
E100V |
probably damaging |
Het |
| Col4a4 |
G |
A |
1: 82,475,581 (GRCm39) |
R583C |
unknown |
Het |
| Commd7 |
A |
C |
2: 153,463,586 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,320,899 (GRCm39) |
T304A |
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,348,588 (GRCm39) |
S325R |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,827,353 (GRCm39) |
N42S |
probably benign |
Het |
| Dmrta1 |
A |
T |
4: 89,576,946 (GRCm39) |
Q134L |
probably damaging |
Het |
| Dnaaf3 |
T |
A |
7: 4,526,800 (GRCm39) |
I426L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,924,573 (GRCm39) |
L3999F |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,473,854 (GRCm39) |
S976T |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,377,222 (GRCm39) |
M29K |
probably null |
Het |
| Eif3i |
A |
T |
4: 129,490,719 (GRCm39) |
H18Q |
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,219,426 (GRCm39) |
E71G |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,140,712 (GRCm39) |
V260D |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,568,042 (GRCm39) |
N34S |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 16,158,015 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
A |
11: 62,750,683 (GRCm39) |
I422N |
probably damaging |
Het |
| Fcgbpl1 |
C |
T |
7: 27,854,899 (GRCm39) |
P1842S |
probably damaging |
Het |
| Fkbp15 |
C |
A |
4: 62,246,136 (GRCm39) |
G431W |
probably damaging |
Het |
| Flnb |
A |
C |
14: 7,873,376 (GRCm38) |
D224A |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,443,675 (GRCm39) |
V566M |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,900,134 (GRCm39) |
S1174T |
possibly damaging |
Het |
| Glmn |
A |
T |
5: 107,726,321 (GRCm39) |
V93E |
probably damaging |
Het |
| Glrx2 |
T |
C |
1: 143,620,842 (GRCm39) |
S74P |
possibly damaging |
Het |
| Gm5422 |
G |
A |
10: 31,124,929 (GRCm39) |
|
noncoding transcript |
Het |
| Gpi1 |
T |
C |
7: 33,905,339 (GRCm39) |
K362E |
probably damaging |
Het |
| Gtpbp2 |
T |
C |
17: 46,472,128 (GRCm39) |
M21T |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,142,851 (GRCm39) |
*405R |
probably null |
Het |
| Heyl |
T |
C |
4: 123,139,876 (GRCm39) |
V145A |
probably damaging |
Het |
| Hhipl1 |
A |
C |
12: 108,277,949 (GRCm39) |
E92D |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,557,337 (GRCm39) |
F467S |
possibly damaging |
Het |
| Ift70b |
G |
T |
2: 75,767,129 (GRCm39) |
H541Q |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,941,095 (GRCm39) |
I462N |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,678,961 (GRCm39) |
|
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,427,278 (GRCm39) |
I201T |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,200,961 (GRCm39) |
V465A |
probably damaging |
Het |
| Kcnu1 |
T |
A |
8: 26,341,928 (GRCm39) |
I91N |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,648,817 (GRCm39) |
|
probably benign |
Het |
| Klrc3 |
T |
A |
6: 129,618,501 (GRCm39) |
Y94F |
probably benign |
Het |
| Lgals3bp |
T |
A |
11: 118,284,113 (GRCm39) |
T489S |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Lmtk2 |
C |
T |
5: 144,111,806 (GRCm39) |
T842I |
possibly damaging |
Het |
| Magel2 |
A |
T |
7: 62,027,486 (GRCm39) |
H130L |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,674,255 (GRCm39) |
E951G |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,364 (GRCm39) |
Q86R |
probably damaging |
Het |
| Med12l |
G |
T |
3: 59,172,703 (GRCm39) |
|
probably null |
Het |
| Morc2a |
A |
G |
11: 3,629,787 (GRCm39) |
E402G |
possibly damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,916,161 (GRCm39) |
C486R |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,187 (GRCm39) |
D282G |
possibly damaging |
Het |
| Mtcl1 |
G |
T |
17: 66,650,618 (GRCm39) |
H1616N |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,698,115 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,702 (GRCm39) |
E777G |
probably damaging |
Het |
| Nid1 |
A |
G |
13: 13,684,071 (GRCm39) |
H1186R |
probably benign |
Het |
| Nppb |
T |
A |
4: 148,070,454 (GRCm39) |
S8T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 129,224,997 (GRCm39) |
E782D |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,127,683 (GRCm39) |
|
probably benign |
Het |
| Or1ak2 |
A |
G |
2: 36,827,704 (GRCm39) |
N191S |
probably benign |
Het |
| Or1j13 |
A |
G |
2: 36,370,059 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or2f1 |
C |
A |
6: 42,721,069 (GRCm39) |
L33M |
possibly damaging |
Het |
| Or5al5 |
A |
G |
2: 85,961,605 (GRCm39) |
V134A |
possibly damaging |
Het |
| Or5b99 |
T |
A |
19: 12,976,402 (GRCm39) |
D17E |
probably benign |
Het |
| Or6f1 |
C |
T |
7: 85,970,687 (GRCm39) |
V158M |
possibly damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,416,558 (GRCm39) |
I546K |
probably damaging |
Het |
| Pard6g |
T |
C |
18: 80,160,523 (GRCm39) |
V212A |
probably damaging |
Het |
| Pate6 |
T |
G |
9: 35,701,039 (GRCm39) |
|
probably benign |
Het |
| Pdlim4 |
A |
G |
11: 53,954,563 (GRCm39) |
L48S |
possibly damaging |
Het |
| Phactr3 |
T |
C |
2: 177,925,759 (GRCm39) |
F345L |
probably benign |
Het |
| Plcb1 |
T |
A |
2: 135,167,587 (GRCm39) |
Y460* |
probably null |
Het |
| Prcp |
T |
A |
7: 92,550,488 (GRCm39) |
V95D |
probably benign |
Het |
| Rfwd3 |
A |
T |
8: 112,024,034 (GRCm39) |
V96E |
probably benign |
Het |
| Ror1 |
A |
G |
4: 100,267,222 (GRCm39) |
N308D |
probably benign |
Het |
| Sdccag8 |
C |
A |
1: 176,783,455 (GRCm39) |
Q655K |
probably damaging |
Het |
| Senp1 |
T |
A |
15: 97,973,848 (GRCm39) |
T132S |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,355,559 (GRCm39) |
I10T |
possibly damaging |
Het |
| Slc9a4 |
T |
G |
1: 40,646,901 (GRCm39) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,421,155 (GRCm39) |
C161* |
probably null |
Het |
| Spata31d1a |
G |
T |
13: 59,848,857 (GRCm39) |
D1090E |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,968,633 (GRCm39) |
Y879C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,935,724 (GRCm39) |
T1775A |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,145,463 (GRCm39) |
T595S |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,875,909 (GRCm39) |
E3G |
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,113,888 (GRCm39) |
M457L |
possibly damaging |
Het |
| Tnfrsf26 |
C |
T |
7: 143,171,577 (GRCm39) |
|
probably null |
Het |
| Tor1aip1 |
A |
C |
1: 155,883,308 (GRCm39) |
M180R |
probably damaging |
Het |
| Trabd2b |
A |
T |
4: 114,467,205 (GRCm39) |
Q478L |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,698,419 (GRCm39) |
G516W |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,299,903 (GRCm39) |
Y464C |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,138,896 (GRCm39) |
S92G |
probably damaging |
Het |
| Unc5d |
A |
C |
8: 29,365,557 (GRCm39) |
S143A |
possibly damaging |
Het |
| Usp34 |
A |
T |
11: 23,414,556 (GRCm39) |
H2833L |
possibly damaging |
Het |
| Vps35l |
T |
C |
7: 118,393,798 (GRCm39) |
Y516H |
probably damaging |
Het |
| Wdr17 |
T |
G |
8: 55,125,541 (GRCm39) |
K446N |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,338,392 (GRCm39) |
Q211L |
possibly damaging |
Het |
| Xkr7 |
G |
A |
2: 152,894,816 (GRCm39) |
R256Q |
probably benign |
Het |
| Zfp236 |
T |
C |
18: 82,639,429 (GRCm39) |
M1225V |
probably benign |
Het |
| Zfp268 |
T |
A |
4: 145,350,803 (GRCm39) |
|
probably benign |
Het |
| Zfp280d |
T |
C |
9: 72,215,287 (GRCm39) |
F133L |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,986,107 (GRCm39) |
D8G |
probably benign |
Het |
| Zfp758 |
A |
G |
17: 22,594,951 (GRCm39) |
H479R |
probably damaging |
Het |
| Zfp827 |
A |
G |
8: 79,912,350 (GRCm39) |
N284S |
possibly damaging |
Het |
| Zfyve26 |
T |
A |
12: 79,315,208 (GRCm39) |
I1423F |
possibly damaging |
Het |
|
| Other mutations in Akap13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00161:Akap13
|
APN |
7 |
75,375,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00332:Akap13
|
APN |
7 |
75,378,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00481:Akap13
|
APN |
7 |
75,373,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00590:Akap13
|
APN |
7 |
75,260,417 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00655:Akap13
|
APN |
7 |
75,354,146 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00766:Akap13
|
APN |
7 |
75,354,260 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL00818:Akap13
|
APN |
7 |
75,259,475 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00826:Akap13
|
APN |
7 |
75,327,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01014:Akap13
|
APN |
7 |
75,400,381 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01090:Akap13
|
APN |
7 |
75,316,279 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01155:Akap13
|
APN |
7 |
75,219,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Akap13
|
APN |
7 |
75,375,096 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01456:Akap13
|
APN |
7 |
75,252,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01460:Akap13
|
APN |
7 |
75,397,594 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01568:Akap13
|
APN |
7 |
75,258,270 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL01610:Akap13
|
APN |
7 |
75,397,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01610:Akap13
|
APN |
7 |
75,369,928 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01615:Akap13
|
APN |
7 |
75,347,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01667:Akap13
|
APN |
7 |
75,219,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01705:Akap13
|
APN |
7 |
75,396,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02070:Akap13
|
APN |
7 |
75,316,293 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02269:Akap13
|
APN |
7 |
75,252,659 (GRCm39) |
missense |
probably benign |
|
|
IGL02421:Akap13
|
APN |
7 |
75,367,554 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02870:Akap13
|
APN |
7 |
75,258,936 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02944:Akap13
|
APN |
7 |
75,258,405 (GRCm39) |
missense |
probably benign |
|
|
IGL03051:Akap13
|
APN |
7 |
75,260,233 (GRCm39) |
nonsense |
probably null |
|
|
IGL03160:Akap13
|
APN |
7 |
75,380,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03245:Akap13
|
APN |
7 |
75,259,500 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0254:Akap13
|
UTSW |
7 |
75,386,352 (GRCm39) |
splice site |
probably benign |
|
|
R0310:Akap13
|
UTSW |
7 |
75,264,678 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0373:Akap13
|
UTSW |
7 |
75,380,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Akap13
|
UTSW |
7 |
75,259,677 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0408:Akap13
|
UTSW |
7 |
75,396,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0631:Akap13
|
UTSW |
7 |
75,264,744 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0646:Akap13
|
UTSW |
7 |
75,397,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Akap13
|
UTSW |
7 |
75,261,125 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0845:Akap13
|
UTSW |
7 |
75,375,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Akap13
|
UTSW |
7 |
75,337,034 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1024:Akap13
|
UTSW |
7 |
75,327,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Akap13
|
UTSW |
7 |
75,261,125 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1346:Akap13
|
UTSW |
7 |
75,259,340 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1349:Akap13
|
UTSW |
7 |
75,259,340 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1372:Akap13
|
UTSW |
7 |
75,259,340 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1387:Akap13
|
UTSW |
7 |
75,235,941 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1442:Akap13
|
UTSW |
7 |
75,385,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Akap13
|
UTSW |
7 |
75,378,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1466:Akap13
|
UTSW |
7 |
75,378,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1584:Akap13
|
UTSW |
7 |
75,378,797 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1696:Akap13
|
UTSW |
7 |
75,259,340 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1738:Akap13
|
UTSW |
7 |
75,326,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Akap13
|
UTSW |
7 |
75,333,199 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1785:Akap13
|
UTSW |
7 |
75,261,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1786:Akap13
|
UTSW |
7 |
75,261,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1791:Akap13
|
UTSW |
7 |
75,260,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1819:Akap13
|
UTSW |
7 |
75,258,453 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1879:Akap13
|
UTSW |
7 |
75,260,475 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1989:Akap13
|
UTSW |
7 |
75,354,264 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2016:Akap13
|
UTSW |
7 |
75,354,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2092:Akap13
|
UTSW |
7 |
75,260,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2126:Akap13
|
UTSW |
7 |
75,375,052 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2131:Akap13
|
UTSW |
7 |
75,261,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2133:Akap13
|
UTSW |
7 |
75,261,182 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2251:Akap13
|
UTSW |
7 |
75,389,225 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3704:Akap13
|
UTSW |
7 |
75,316,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Akap13
|
UTSW |
7 |
75,235,929 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3731:Akap13
|
UTSW |
7 |
75,261,125 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3765:Akap13
|
UTSW |
7 |
75,258,585 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3788:Akap13
|
UTSW |
7 |
75,351,901 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3793:Akap13
|
UTSW |
7 |
75,259,889 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3970:Akap13
|
UTSW |
7 |
75,219,699 (GRCm39) |
nonsense |
probably null |
|
|
R4205:Akap13
|
UTSW |
7 |
75,260,667 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4257:Akap13
|
UTSW |
7 |
75,261,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4374:Akap13
|
UTSW |
7 |
75,258,732 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4448:Akap13
|
UTSW |
7 |
75,392,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4450:Akap13
|
UTSW |
7 |
75,392,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4457:Akap13
|
UTSW |
7 |
75,389,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4458:Akap13
|
UTSW |
7 |
75,389,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4466:Akap13
|
UTSW |
7 |
75,252,521 (GRCm39) |
splice site |
probably null |
|
|
R4632:Akap13
|
UTSW |
7 |
75,316,301 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4667:Akap13
|
UTSW |
7 |
75,378,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Akap13
|
UTSW |
7 |
75,378,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Akap13
|
UTSW |
7 |
75,229,312 (GRCm39) |
nonsense |
probably null |
|
|
R4821:Akap13
|
UTSW |
7 |
75,327,255 (GRCm39) |
intron |
probably benign |
|
|
R4868:Akap13
|
UTSW |
7 |
75,393,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Akap13
|
UTSW |
7 |
75,375,068 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4943:Akap13
|
UTSW |
7 |
75,398,988 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4962:Akap13
|
UTSW |
7 |
75,399,178 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4988:Akap13
|
UTSW |
7 |
75,380,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Akap13
|
UTSW |
7 |
75,337,000 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5141:Akap13
|
UTSW |
7 |
75,259,362 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5419:Akap13
|
UTSW |
7 |
75,259,991 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5427:Akap13
|
UTSW |
7 |
75,378,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5429:Akap13
|
UTSW |
7 |
75,252,652 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5432:Akap13
|
UTSW |
7 |
75,252,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5458:Akap13
|
UTSW |
7 |
75,236,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5636:Akap13
|
UTSW |
7 |
75,354,120 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5643:Akap13
|
UTSW |
7 |
75,351,902 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5898:Akap13
|
UTSW |
7 |
75,378,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5932:Akap13
|
UTSW |
7 |
75,259,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Akap13
|
UTSW |
7 |
75,259,656 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6137:Akap13
|
UTSW |
7 |
75,327,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Akap13
|
UTSW |
7 |
75,236,028 (GRCm39) |
missense |
probably benign |
0.45 |
|
R6310:Akap13
|
UTSW |
7 |
75,398,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6346:Akap13
|
UTSW |
7 |
75,335,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Akap13
|
UTSW |
7 |
75,376,792 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6605:Akap13
|
UTSW |
7 |
75,229,516 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6617:Akap13
|
UTSW |
7 |
75,380,111 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6621:Akap13
|
UTSW |
7 |
75,219,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Akap13
|
UTSW |
7 |
75,252,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Akap13
|
UTSW |
7 |
75,389,206 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7069:Akap13
|
UTSW |
7 |
75,260,010 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7116:Akap13
|
UTSW |
7 |
75,369,943 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7158:Akap13
|
UTSW |
7 |
75,229,342 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7159:Akap13
|
UTSW |
7 |
75,380,327 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7467:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7468:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7471:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7477:Akap13
|
UTSW |
7 |
75,398,995 (GRCm39) |
missense |
probably benign |
|
|
R7636:Akap13
|
UTSW |
7 |
75,259,621 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7650:Akap13
|
UTSW |
7 |
75,293,202 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7671:Akap13
|
UTSW |
7 |
75,219,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7681:Akap13
|
UTSW |
7 |
75,378,544 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7752:Akap13
|
UTSW |
7 |
75,327,006 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7784:Akap13
|
UTSW |
7 |
75,260,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7816:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Akap13
|
UTSW |
7 |
75,392,390 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7880:Akap13
|
UTSW |
7 |
75,235,964 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7942:Akap13
|
UTSW |
7 |
75,261,218 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8006:Akap13
|
UTSW |
7 |
75,229,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8011:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8012:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8013:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8016:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8089:Akap13
|
UTSW |
7 |
75,260,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8138:Akap13
|
UTSW |
7 |
75,351,979 (GRCm39) |
splice site |
probably null |
|
|
R8174:Akap13
|
UTSW |
7 |
75,378,617 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8298:Akap13
|
UTSW |
7 |
75,397,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8445:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Akap13
|
UTSW |
7 |
75,376,786 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8512:Akap13
|
UTSW |
7 |
75,260,834 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8523:Akap13
|
UTSW |
7 |
75,380,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8793:Akap13
|
UTSW |
7 |
75,375,076 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8907:Akap13
|
UTSW |
7 |
75,260,456 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8907:Akap13
|
UTSW |
7 |
75,260,444 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8928:Akap13
|
UTSW |
7 |
75,259,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8929:Akap13
|
UTSW |
7 |
75,258,752 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8937:Akap13
|
UTSW |
7 |
75,184,601 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8967:Akap13
|
UTSW |
7 |
75,378,882 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8986:Akap13
|
UTSW |
7 |
75,259,074 (GRCm39) |
missense |
probably benign |
|
|
R9152:Akap13
|
UTSW |
7 |
75,261,033 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9153:Akap13
|
UTSW |
7 |
75,259,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9160:Akap13
|
UTSW |
7 |
75,385,526 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9192:Akap13
|
UTSW |
7 |
75,354,249 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9319:Akap13
|
UTSW |
7 |
75,258,836 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9513:Akap13
|
UTSW |
7 |
75,354,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9515:Akap13
|
UTSW |
7 |
75,354,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9516:Akap13
|
UTSW |
7 |
75,354,275 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9523:Akap13
|
UTSW |
7 |
75,293,193 (GRCm39) |
missense |
|
|
|
R9564:Akap13
|
UTSW |
7 |
75,259,161 (GRCm39) |
missense |
probably benign |
|
|
R9621:Akap13
|
UTSW |
7 |
75,386,090 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9686:Akap13
|
UTSW |
7 |
75,236,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Akap13
|
UTSW |
7 |
75,380,300 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Akap13
|
UTSW |
7 |
75,264,753 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACCCAAGCTGCAGATGTG -3'
(R):5'- TGAGCAAGTAGGACTACAAACC -3'
Sequencing Primer
(F):5'- GATGTGCCTACCAGAGCAGACTC -3'
(R):5'- TATCGACATTCTAGTACACAACAGAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation