Incidental Mutation 'R6284:Akap1'
ID |
508127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap1
|
Ensembl Gene |
ENSMUSG00000018428 |
Gene Name |
A kinase anchor protein 1 |
Synonyms |
DAKAP1, S-AKAP84, AKAP84, AKAP121 |
MMRRC Submission |
044454-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6284 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88735394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 423
(T423A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122295
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
AlphaFold |
O08715 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018572
AA Change: T423A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000018572 Gene: ENSMUSG00000018428 AA Change: T423A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
KH
|
560 |
630 |
1.59e-10 |
SMART |
low complexity region
|
639 |
651 |
N/A |
INTRINSIC |
TUDOR
|
710 |
769 |
5.32e-12 |
SMART |
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107903
AA Change: T423A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000103536 Gene: ENSMUSG00000018428 AA Change: T423A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
KH
|
560 |
630 |
1.59e-10 |
SMART |
low complexity region
|
639 |
651 |
N/A |
INTRINSIC |
TUDOR
|
710 |
769 |
5.32e-12 |
SMART |
low complexity region
|
778 |
790 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107904
AA Change: T456A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000103537 Gene: ENSMUSG00000018428 AA Change: T456A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
40 |
59 |
N/A |
INTRINSIC |
low complexity region
|
60 |
71 |
N/A |
INTRINSIC |
low complexity region
|
482 |
495 |
N/A |
INTRINSIC |
KH
|
593 |
663 |
1.59e-10 |
SMART |
low complexity region
|
672 |
684 |
N/A |
INTRINSIC |
TUDOR
|
743 |
802 |
5.32e-12 |
SMART |
low complexity region
|
811 |
823 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143720
AA Change: T423A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122295 Gene: ENSMUSG00000018428 AA Change: T423A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
26 |
N/A |
INTRINSIC |
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
Pfam:RII_binding_1
|
305 |
322 |
5.5e-5 |
PFAM |
low complexity region
|
449 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153787
|
SMART Domains |
Protein: ENSMUSP00000123018 Gene: ENSMUSG00000018428
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
17 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153961
|
Meta Mutation Damage Score |
0.0626 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (64/64) |
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. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]
|
Allele List at MGI |
All alleles(49) : Targeted(3) Gene trapped(46)
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
Slc29a1 |
A |
G |
17: 45,900,847 (GRCm39) |
|
probably null |
Het |
Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
probably damaging |
Het |
|
Other mutations in Akap1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01299:Akap1
|
APN |
11 |
88,735,080 (GRCm39) |
splice site |
probably null |
|
IGL01333:Akap1
|
APN |
11 |
88,736,431 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01701:Akap1
|
APN |
11 |
88,735,958 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01920:Akap1
|
APN |
11 |
88,730,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02980:Akap1
|
UTSW |
11 |
88,735,990 (GRCm39) |
missense |
probably benign |
|
PIT4305001:Akap1
|
UTSW |
11 |
88,735,204 (GRCm39) |
missense |
probably benign |
|
R0049:Akap1
|
UTSW |
11 |
88,730,450 (GRCm39) |
critical splice donor site |
probably null |
|
R0049:Akap1
|
UTSW |
11 |
88,730,450 (GRCm39) |
critical splice donor site |
probably null |
|
R0278:Akap1
|
UTSW |
11 |
88,736,020 (GRCm39) |
missense |
probably benign |
0.19 |
R1437:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1438:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1439:Akap1
|
UTSW |
11 |
88,735,577 (GRCm39) |
nonsense |
probably null |
|
R1569:Akap1
|
UTSW |
11 |
88,724,006 (GRCm39) |
missense |
probably benign |
0.02 |
R1611:Akap1
|
UTSW |
11 |
88,736,104 (GRCm39) |
missense |
probably benign |
0.27 |
R1757:Akap1
|
UTSW |
11 |
88,736,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R2328:Akap1
|
UTSW |
11 |
88,735,870 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2897:Akap1
|
UTSW |
11 |
88,735,605 (GRCm39) |
nonsense |
probably null |
|
R3730:Akap1
|
UTSW |
11 |
88,736,008 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4868:Akap1
|
UTSW |
11 |
88,735,379 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5620:Akap1
|
UTSW |
11 |
88,736,343 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5645:Akap1
|
UTSW |
11 |
88,736,453 (GRCm39) |
missense |
probably benign |
0.01 |
R5886:Akap1
|
UTSW |
11 |
88,725,486 (GRCm39) |
critical splice donor site |
probably null |
|
R5932:Akap1
|
UTSW |
11 |
88,722,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R6555:Akap1
|
UTSW |
11 |
88,735,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7234:Akap1
|
UTSW |
11 |
88,729,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Akap1
|
UTSW |
11 |
88,736,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R7759:Akap1
|
UTSW |
11 |
88,736,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8356:Akap1
|
UTSW |
11 |
88,725,557 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8456:Akap1
|
UTSW |
11 |
88,725,557 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8796:Akap1
|
UTSW |
11 |
88,730,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R8948:Akap1
|
UTSW |
11 |
88,735,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Akap1
|
UTSW |
11 |
88,723,996 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9116:Akap1
|
UTSW |
11 |
88,723,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R9174:Akap1
|
UTSW |
11 |
88,725,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Akap1
|
UTSW |
11 |
88,727,966 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Akap1
|
UTSW |
11 |
88,727,993 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGGGCTGAGTACTGACTG -3'
(R):5'- AGACACCTCAGATCCTGCTTC -3'
Sequencing Primer
(F):5'- GTCATAGCTTTGTCTCCGGAGC -3'
(R):5'- TCCTGCTTCCACCAGAACAGG -3'
|
Posted On |
2018-03-15 |