Incidental Mutation 'R3730:Akap1'
ID |
270940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Akap1
|
Ensembl Gene |
ENSMUSG00000018428 |
Gene Name |
A kinase anchor protein 1 |
Synonyms |
DAKAP1, S-AKAP84, AKAP84, AKAP121 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3730 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88736008 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 218
(E218G)
|
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: E218G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000018572 Gene: ENSMUSG00000018428 AA Change: E218G
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: E218G
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000103536 Gene: ENSMUSG00000018428 AA Change: E218G
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: E251G
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000103537 Gene: ENSMUSG00000018428 AA Change: E251G
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: E218G
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000122295 Gene: ENSMUSG00000018428 AA Change: E218G
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
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 90.5%
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
G |
1: 11,615,450 (GRCm39) |
N141S |
probably damaging |
Het |
Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
Acot12 |
T |
A |
13: 91,908,145 (GRCm39) |
F109Y |
possibly damaging |
Het |
Adamts19 |
G |
A |
18: 59,033,982 (GRCm39) |
R319Q |
probably damaging |
Het |
Atg4b |
T |
A |
1: 93,695,997 (GRCm39) |
D45E |
probably damaging |
Het |
Atoh1 |
A |
G |
6: 64,706,557 (GRCm39) |
E84G |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,803,481 (GRCm39) |
Y838C |
probably damaging |
Het |
Cfap251 |
A |
T |
5: 123,464,631 (GRCm39) |
I1280L |
possibly damaging |
Het |
Cfap54 |
A |
T |
10: 92,847,335 (GRCm39) |
Y951* |
probably null |
Het |
Col4a4 |
T |
A |
1: 82,433,472 (GRCm39) |
|
probably null |
Het |
Crlf1 |
A |
G |
8: 70,952,092 (GRCm39) |
T95A |
probably benign |
Het |
Cyp3a25 |
G |
A |
5: 145,939,891 (GRCm39) |
P39S |
probably damaging |
Het |
Dhx9 |
C |
A |
1: 153,353,866 (GRCm39) |
A186S |
probably benign |
Het |
Dusp16 |
A |
G |
6: 134,695,824 (GRCm39) |
S336P |
probably benign |
Het |
Fcgbp |
T |
C |
7: 27,784,882 (GRCm39) |
V314A |
possibly damaging |
Het |
Focad |
T |
C |
4: 88,327,162 (GRCm39) |
I157T |
possibly damaging |
Het |
Frem3 |
A |
T |
8: 81,342,545 (GRCm39) |
T1613S |
probably damaging |
Het |
Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
Galnt13 |
A |
G |
2: 54,823,519 (GRCm39) |
N365S |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ice1 |
A |
T |
13: 70,751,359 (GRCm39) |
S1576T |
probably damaging |
Het |
Ighv1-19 |
C |
A |
12: 114,672,497 (GRCm39) |
C40F |
probably damaging |
Het |
Itga8 |
T |
C |
2: 12,198,321 (GRCm39) |
T555A |
possibly damaging |
Het |
Kctd5 |
T |
C |
17: 24,278,212 (GRCm39) |
D146G |
probably benign |
Het |
Ktn1 |
A |
G |
14: 47,938,606 (GRCm39) |
E766G |
probably damaging |
Het |
Ldlr |
C |
G |
9: 21,643,097 (GRCm39) |
A41G |
probably benign |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,365,251 (GRCm39) |
|
probably null |
Het |
Mapk11 |
G |
A |
15: 89,029,318 (GRCm39) |
A248V |
probably benign |
Het |
Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Npr2 |
T |
C |
4: 43,640,999 (GRCm39) |
S402P |
possibly damaging |
Het |
Olfm2 |
T |
C |
9: 20,584,063 (GRCm39) |
N76D |
probably damaging |
Het |
Or7g33 |
T |
A |
9: 19,448,447 (GRCm39) |
I260F |
probably benign |
Het |
Or8k3 |
A |
G |
2: 86,059,195 (GRCm39) |
I40T |
probably benign |
Het |
Pias4 |
A |
T |
10: 80,999,888 (GRCm39) |
F55Y |
probably damaging |
Het |
Rgs12 |
G |
A |
5: 35,189,595 (GRCm39) |
E658K |
probably damaging |
Het |
Ripor3 |
C |
G |
2: 167,834,739 (GRCm39) |
E251Q |
probably damaging |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
Slc35e4 |
A |
G |
11: 3,862,577 (GRCm39) |
V204A |
possibly damaging |
Het |
Syt4 |
T |
C |
18: 31,577,189 (GRCm39) |
H55R |
probably damaging |
Het |
Trim46 |
T |
A |
3: 89,142,256 (GRCm39) |
T721S |
probably benign |
Het |
Usf3 |
G |
T |
16: 44,038,938 (GRCm39) |
L1139F |
probably benign |
Het |
Xrn2 |
A |
T |
2: 146,866,729 (GRCm39) |
M100L |
probably benign |
Het |
Zbtb33 |
C |
A |
X: 37,281,822 (GRCm39) |
N243K |
probably benign |
Het |
Zfp960 |
T |
A |
17: 17,308,633 (GRCm39) |
L449H |
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 |
|
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 |
R6284:Akap1
|
UTSW |
11 |
88,735,394 (GRCm39) |
missense |
possibly damaging |
0.66 |
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'- TACCTTTGACCTGGGGTTCC -3'
(R):5'- GATGCGTCCTTCCCCTATGAAG -3'
Sequencing Primer
(F):5'- TGGGGTTCCAACGCATC -3'
(R):5'- CTTCCCCTATGAAGCAGTGGAAAG -3'
|
Posted On |
2015-03-18 |