Incidental Mutation 'IGL01920:Akap7'
ID |
180076 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Akap7
|
Ensembl Gene |
ENSMUSG00000039166 |
Gene Name |
A kinase anchor protein 7 |
Synonyms |
AKAP15, Akap18 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01920
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
25044988-25175115 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 25165501 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 85
(C85*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135137
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041984]
[ENSMUST00000095779]
[ENSMUST00000176231]
[ENSMUST00000176258]
[ENSMUST00000177124]
|
AlphaFold |
Q7TN79 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041984
AA Change: C12*
|
SMART Domains |
Protein: ENSMUSP00000043624 Gene: ENSMUSG00000039166 AA Change: C12*
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
Pfam:AKAP7_NLS
|
51 |
249 |
2.1e-52 |
PFAM |
Pfam:AKAP7_RIRII_bdg
|
255 |
312 |
1.9e-35 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000095779
AA Change: C12*
|
SMART Domains |
Protein: ENSMUSP00000093455 Gene: ENSMUSG00000039166 AA Change: C12*
Domain | Start | End | E-Value | Type |
PDB:3J4R|A
|
1 |
63 |
6e-17 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176231
AA Change: C12*
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176258
AA Change: C12*
|
SMART Domains |
Protein: ENSMUSP00000135037 Gene: ENSMUSG00000039166 AA Change: C12*
Domain | Start | End | E-Value | Type |
low complexity region
|
34 |
48 |
N/A |
INTRINSIC |
Pfam:AKAP7_NLS
|
51 |
142 |
5.3e-24 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000177124
AA Change: C85*
|
SMART Domains |
Protein: ENSMUSP00000135137 Gene: ENSMUSG00000039166 AA Change: C85*
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
PDB:3J4R|A
|
37 |
126 |
1e-24 |
PDB |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011] PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show normal cardiomyocyte response to adrenergic stimulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
C |
T |
8: 111,769,878 (GRCm39) |
R326W |
probably damaging |
Het |
Acad11 |
T |
C |
9: 103,941,104 (GRCm39) |
|
probably null |
Het |
Acat2 |
A |
G |
17: 13,162,912 (GRCm39) |
I312T |
probably benign |
Het |
Adgrl3 |
T |
C |
5: 81,613,143 (GRCm39) |
V192A |
probably damaging |
Het |
Akap1 |
T |
C |
11: 88,730,459 (GRCm39) |
H643R |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,642,636 (GRCm39) |
|
probably benign |
Het |
Ano1 |
G |
A |
7: 144,165,191 (GRCm39) |
|
probably benign |
Het |
Csnk1g2 |
T |
C |
10: 80,474,262 (GRCm39) |
L161P |
probably damaging |
Het |
Dvl2 |
A |
G |
11: 69,898,873 (GRCm39) |
H420R |
probably benign |
Het |
Fam135b |
G |
T |
15: 71,493,885 (GRCm39) |
H15N |
possibly damaging |
Het |
Foxj1 |
G |
T |
11: 116,222,746 (GRCm39) |
H352Q |
possibly damaging |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Hectd1 |
T |
C |
12: 51,829,337 (GRCm39) |
I969M |
probably damaging |
Het |
Kcnh3 |
C |
A |
15: 99,131,258 (GRCm39) |
P544T |
probably benign |
Het |
Or7g35 |
A |
C |
9: 19,496,318 (GRCm39) |
M162L |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,240,362 (GRCm39) |
L1224P |
probably damaging |
Het |
Prss2 |
A |
G |
6: 41,501,477 (GRCm39) |
N182S |
possibly damaging |
Het |
Sgsm1 |
A |
T |
5: 113,421,471 (GRCm39) |
W594R |
probably damaging |
Het |
Slc38a1 |
C |
T |
15: 96,484,778 (GRCm39) |
A261T |
probably benign |
Het |
Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
Vcan |
C |
T |
13: 89,837,324 (GRCm39) |
G2740E |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vwa7 |
G |
A |
17: 35,243,579 (GRCm39) |
V729I |
probably benign |
Het |
|
Other mutations in Akap7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Akap7
|
APN |
10 |
25,047,138 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01638:Akap7
|
APN |
10 |
25,143,323 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03145:Akap7
|
APN |
10 |
25,115,565 (GRCm39) |
missense |
probably damaging |
1.00 |
ANU05:Akap7
|
UTSW |
10 |
25,147,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R0304:Akap7
|
UTSW |
10 |
25,147,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R1412:Akap7
|
UTSW |
10 |
25,165,495 (GRCm39) |
critical splice donor site |
probably null |
|
R1791:Akap7
|
UTSW |
10 |
25,115,583 (GRCm39) |
missense |
probably benign |
|
R2158:Akap7
|
UTSW |
10 |
25,047,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Akap7
|
UTSW |
10 |
25,155,640 (GRCm39) |
unclassified |
probably benign |
|
R5533:Akap7
|
UTSW |
10 |
25,159,880 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6222:Akap7
|
UTSW |
10 |
25,159,844 (GRCm39) |
nonsense |
probably null |
|
R7195:Akap7
|
UTSW |
10 |
25,147,405 (GRCm39) |
missense |
probably damaging |
0.97 |
R7261:Akap7
|
UTSW |
10 |
25,147,416 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7343:Akap7
|
UTSW |
10 |
25,165,567 (GRCm39) |
start gained |
probably benign |
|
R7785:Akap7
|
UTSW |
10 |
25,096,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R8258:Akap7
|
UTSW |
10 |
25,047,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R8259:Akap7
|
UTSW |
10 |
25,047,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Akap7
|
UTSW |
10 |
25,155,676 (GRCm39) |
missense |
unknown |
|
R9154:Akap7
|
UTSW |
10 |
25,047,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-05-07 |