Incidental Mutation 'R6555:Akap1'
| ID |
522098 |
| 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 |
044680-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6555 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88721618-88755412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88735708 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 351
(I351N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103537
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018572]
[ENSMUST00000107903]
[ENSMUST00000107904]
[ENSMUST00000143720]
|
| AlphaFold |
O08715 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018572
AA Change: I318N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: I318N
| 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 damaging
Transcript: ENSMUST00000107903
AA Change: I318N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: I318N
| 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 damaging
Transcript: ENSMUST00000107904
AA Change: I351N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: I351N
| 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: I318N
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: I318N
| 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 |
0.8663 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (40/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,752,468 (GRCm39) |
I480V |
probably damaging |
Het |
| C1qtnf3 |
A |
G |
15: 10,975,742 (GRCm39) |
M256V |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,498,258 (GRCm39) |
C421S |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,302,235 (GRCm39) |
D2631G |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,719,049 (GRCm39) |
V319A |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 46,736,694 (GRCm39) |
W707R |
probably damaging |
Het |
| Ctss |
T |
A |
3: 95,450,340 (GRCm39) |
L97* |
probably null |
Het |
| Eif2ak4 |
A |
T |
2: 118,258,350 (GRCm39) |
N455Y |
probably damaging |
Het |
| Ercc6 |
G |
A |
14: 32,239,064 (GRCm39) |
E51K |
probably benign |
Het |
| Gm10318 |
G |
A |
10: 77,688,855 (GRCm39) |
|
probably benign |
Het |
| Gp6 |
C |
T |
7: 4,387,929 (GRCm39) |
R180Q |
probably damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,333,902 (GRCm39) |
I25V |
probably damaging |
Het |
| Igkv1-99 |
A |
G |
6: 68,519,300 (GRCm39) |
R85G |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,114,611 (GRCm39) |
|
probably null |
Het |
| Iqsec3 |
T |
C |
6: 121,361,178 (GRCm39) |
H935R |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,380,965 (GRCm39) |
V94A |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,339,647 (GRCm39) |
K1088R |
probably benign |
Het |
| Lsm3 |
GATATATA |
GATATATATA |
6: 91,496,617 (GRCm39) |
|
probably null |
Het |
| Lyst |
A |
G |
13: 13,823,510 (GRCm39) |
N1494S |
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,875 (GRCm39) |
R26W |
probably damaging |
Het |
| Nup88 |
T |
C |
11: 70,835,006 (GRCm39) |
R660G |
possibly damaging |
Het |
| Or1o1 |
G |
A |
17: 37,716,796 (GRCm39) |
R119H |
probably benign |
Het |
| Or4q3 |
G |
A |
14: 50,583,303 (GRCm39) |
Q168* |
probably null |
Het |
| Or5d16 |
T |
A |
2: 87,773,632 (GRCm39) |
E113D |
probably damaging |
Het |
| Or8b51 |
C |
A |
9: 38,569,585 (GRCm39) |
M34I |
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,488 (GRCm39) |
T750A |
probably damaging |
Het |
| Plxnb1 |
A |
G |
9: 108,937,473 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
T |
C |
2: 121,168,093 (GRCm39) |
E720G |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,578,140 (GRCm39) |
I133M |
possibly damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,190,820 (GRCm39) |
Y786H |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,874,600 (GRCm39) |
V614A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,889,982 (GRCm39) |
|
probably null |
Het |
| Selp |
C |
T |
1: 163,969,171 (GRCm39) |
|
probably null |
Het |
| Slc16a10 |
T |
C |
10: 39,956,774 (GRCm39) |
I122V |
probably benign |
Het |
| Slc22a22 |
G |
A |
15: 57,122,527 (GRCm39) |
T131M |
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,071,067 (GRCm39) |
I574F |
probably benign |
Het |
| Tsen54 |
C |
T |
11: 115,711,519 (GRCm39) |
T156I |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,846,993 (GRCm39) |
N2592S |
probably damaging |
Het |
| Wdr64 |
G |
A |
1: 175,547,856 (GRCm39) |
R131H |
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 |
|
R6284:Akap1
|
UTSW |
11 |
88,735,394 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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'- GAGACAGCTTACATAGGTCTTTGG -3'
(R):5'- TGTGGAGCCAGTTCACTCAG -3'
Sequencing Primer
(F):5'- ACATAGGTCTTTGGTGGCAGAGC -3'
(R):5'- TTCACTCAGAGCCGGTTAAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation