Incidental Mutation 'R1970:Akap6'
| ID |
219771 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap6
|
| Ensembl Gene |
ENSMUSG00000061603 |
| Gene Name |
A kinase anchor protein 6 |
| Synonyms |
|
| MMRRC Submission |
039983-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.754)
|
| Stock # |
R1970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
52746166-53202382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52985258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 897
(V897E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095737]
[ENSMUST00000219786]
|
| AlphaFold |
E9Q9K8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095737
AA Change: V897E
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: V897E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
51 |
N/A |
INTRINSIC |
|
Blast:SPEC
|
66 |
168 |
2e-50 |
BLAST |
|
low complexity region
|
441 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
555 |
N/A |
INTRINSIC |
|
low complexity region
|
569 |
587 |
N/A |
INTRINSIC |
|
low complexity region
|
640 |
651 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
708 |
N/A |
INTRINSIC |
|
SPEC
|
779 |
880 |
1.06e-1 |
SMART |
|
SPEC
|
959 |
1057 |
1.45e0 |
SMART |
|
SPEC
|
1078 |
1185 |
2.56e-2 |
SMART |
|
low complexity region
|
1316 |
1332 |
N/A |
INTRINSIC |
|
low complexity region
|
1555 |
1568 |
N/A |
INTRINSIC |
|
low complexity region
|
1610 |
1622 |
N/A |
INTRINSIC |
|
low complexity region
|
1683 |
1698 |
N/A |
INTRINSIC |
|
low complexity region
|
1737 |
1781 |
N/A |
INTRINSIC |
|
low complexity region
|
1899 |
1910 |
N/A |
INTRINSIC |
|
low complexity region
|
2019 |
2031 |
N/A |
INTRINSIC |
|
low complexity region
|
2104 |
2115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219786
AA Change: V897E
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1529 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
97% (121/125) |
| 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 is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 121 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,526,549 (GRCm39) |
H578Q |
probably benign |
Het |
| Abcc12 |
A |
G |
8: 87,253,910 (GRCm39) |
I958T |
probably benign |
Het |
| Abcg5 |
AATCATTTG |
AG |
17: 84,981,030 (GRCm39) |
|
probably null |
Het |
| Acap2 |
A |
G |
16: 30,952,345 (GRCm39) |
|
probably null |
Het |
| Adgrb1 |
T |
C |
15: 74,411,726 (GRCm39) |
|
probably benign |
Het |
| Als2 |
A |
T |
1: 59,254,328 (GRCm39) |
L343Q |
probably benign |
Het |
| Arhgap5 |
A |
G |
12: 52,589,376 (GRCm39) |
I1275M |
probably damaging |
Het |
| Arnt |
C |
T |
3: 95,355,704 (GRCm39) |
S16L |
possibly damaging |
Het |
| Bglap3 |
C |
T |
3: 88,284,300 (GRCm39) |
|
probably benign |
Het |
| Blnk |
T |
C |
19: 40,928,609 (GRCm39) |
|
probably benign |
Het |
| C1qtnf4 |
T |
C |
2: 90,720,003 (GRCm39) |
M92T |
probably damaging |
Het |
| Ccdc177 |
G |
A |
12: 80,805,486 (GRCm39) |
R263C |
unknown |
Het |
| Ccdc83 |
T |
A |
7: 89,893,362 (GRCm39) |
S132C |
probably damaging |
Het |
| Cdc7 |
A |
G |
5: 107,120,940 (GRCm39) |
|
probably benign |
Het |
| Cgnl1 |
T |
A |
9: 71,632,817 (GRCm39) |
N178I |
probably benign |
Het |
| Col27a1 |
C |
T |
4: 63,191,354 (GRCm39) |
|
probably benign |
Het |
| Col5a1 |
A |
T |
2: 27,876,766 (GRCm39) |
M822L |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,451,620 (GRCm39) |
I451V |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 48,536,927 (GRCm39) |
T92A |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,765,292 (GRCm39) |
V460A |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,736,547 (GRCm39) |
V608I |
probably damaging |
Het |
| Ddx60 |
A |
T |
8: 62,425,240 (GRCm39) |
H676L |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,198,989 (GRCm39) |
E48G |
probably benign |
Het |
| Dpf3 |
T |
A |
12: 83,371,809 (GRCm39) |
|
probably null |
Het |
| Dydc2 |
A |
G |
14: 40,783,860 (GRCm39) |
C88R |
probably benign |
Het |
| Elovl4 |
A |
G |
9: 83,662,772 (GRCm39) |
Y163H |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,746,378 (GRCm39) |
D296G |
probably damaging |
Het |
| Fam83h |
G |
T |
15: 75,878,419 (GRCm39) |
|
probably benign |
Het |
| Fbf1 |
T |
A |
11: 116,042,317 (GRCm39) |
Q511L |
possibly damaging |
Het |
| Fhdc1 |
A |
T |
3: 84,362,158 (GRCm39) |
L323Q |
probably damaging |
Het |
| Fmnl2 |
T |
A |
2: 52,995,588 (GRCm39) |
V437D |
possibly damaging |
Het |
| Foxo3 |
A |
G |
10: 42,073,258 (GRCm39) |
S420P |
probably benign |
Het |
| Foxp4 |
C |
T |
17: 48,186,796 (GRCm39) |
R378Q |
unknown |
Het |
| Garem2 |
G |
T |
5: 30,322,172 (GRCm39) |
G844* |
probably null |
Het |
| Glmp |
T |
C |
3: 88,235,177 (GRCm39) |
L269S |
probably damaging |
Het |
| Gm9915 |
T |
C |
1: 42,269,881 (GRCm39) |
|
noncoding transcript |
Het |
| Gnb4 |
A |
T |
3: 32,652,290 (GRCm39) |
D27E |
probably damaging |
Het |
| Gnb5 |
A |
G |
9: 75,251,932 (GRCm39) |
|
probably null |
Het |
| Gpr161 |
T |
G |
1: 165,133,927 (GRCm39) |
V63G |
probably damaging |
Het |
| Gsk3a |
T |
A |
7: 24,929,146 (GRCm39) |
|
probably benign |
Het |
| Hapln2 |
T |
C |
3: 87,931,427 (GRCm39) |
|
probably null |
Het |
| Incenp |
G |
T |
19: 9,862,851 (GRCm39) |
T401N |
unknown |
Het |
| Kalrn |
A |
G |
16: 33,797,894 (GRCm39) |
|
probably null |
Het |
| Kcnq3 |
A |
G |
15: 65,900,472 (GRCm39) |
|
probably null |
Het |
| Kif21b |
T |
C |
1: 136,098,894 (GRCm39) |
V1394A |
probably damaging |
Het |
| Klhl23 |
T |
C |
2: 69,664,030 (GRCm39) |
C460R |
probably damaging |
Het |
| L3mbtl1 |
G |
A |
2: 162,801,492 (GRCm39) |
A291T |
probably damaging |
Het |
| Lcp1 |
T |
C |
14: 75,437,946 (GRCm39) |
S119P |
probably damaging |
Het |
| Ldhc |
A |
G |
7: 46,519,175 (GRCm39) |
I133V |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,972 (GRCm39) |
|
probably benign |
Het |
| Lpl |
A |
T |
8: 69,349,454 (GRCm39) |
K327* |
probably null |
Het |
| Lrp1b |
T |
C |
2: 40,765,081 (GRCm39) |
D2801G |
probably damaging |
Het |
| Mppe1 |
C |
A |
18: 67,362,843 (GRCm39) |
A131S |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,386,328 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
G |
17: 35,252,576 (GRCm39) |
I377T |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,276,055 (GRCm39) |
F757L |
probably benign |
Het |
| Myof |
A |
T |
19: 37,934,082 (GRCm39) |
D955E |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,115,982 (GRCm39) |
D858G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,153,917 (GRCm39) |
V2398D |
possibly damaging |
Het |
| Nefl |
C |
G |
14: 68,324,121 (GRCm39) |
T453R |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,444,787 (GRCm39) |
N371D |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,119,810 (GRCm39) |
|
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,341,905 (GRCm39) |
Y580C |
probably damaging |
Het |
| Nme8 |
A |
C |
13: 19,836,492 (GRCm39) |
L228R |
probably damaging |
Het |
| Numa1 |
C |
T |
7: 101,658,529 (GRCm39) |
A1605V |
probably damaging |
Het |
| Ofd1 |
T |
C |
X: 165,210,210 (GRCm39) |
Y205C |
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,276,877 (GRCm39) |
N272I |
probably damaging |
Het |
| Or2d3b |
G |
A |
7: 106,513,453 (GRCm39) |
G16D |
probably damaging |
Het |
| Or4k77 |
C |
T |
2: 111,199,421 (GRCm39) |
S148L |
probably benign |
Het |
| Or8g55 |
T |
A |
9: 39,785,234 (GRCm39) |
I221N |
probably damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,596 (GRCm39) |
T240S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,763,487 (GRCm39) |
T3987A |
unknown |
Het |
| Pdgfrb |
G |
A |
18: 61,199,566 (GRCm39) |
|
probably benign |
Het |
| Pdxk |
G |
A |
10: 78,276,988 (GRCm39) |
T270I |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,391,364 (GRCm39) |
E10G |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,846,112 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,451,747 (GRCm39) |
I2183F |
probably damaging |
Het |
| Plppr2 |
T |
C |
9: 21,852,422 (GRCm39) |
V102A |
probably damaging |
Het |
| Plxnd1 |
T |
C |
6: 115,939,478 (GRCm39) |
T1449A |
probably damaging |
Het |
| Pnkd |
T |
A |
1: 74,325,069 (GRCm39) |
|
probably null |
Het |
| Pom121l2 |
A |
G |
13: 22,167,642 (GRCm39) |
I638V |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,596,314 (GRCm39) |
|
probably null |
Het |
| Ranbp10 |
A |
G |
8: 106,513,340 (GRCm39) |
F191L |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,623,723 (GRCm39) |
L824P |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,861,599 (GRCm39) |
L418P |
probably damaging |
Het |
| Rimbp2 |
T |
A |
5: 128,874,305 (GRCm39) |
N429Y |
probably damaging |
Het |
| Rpe65 |
C |
A |
3: 159,321,307 (GRCm39) |
T373K |
probably benign |
Het |
| Rpl35rt |
T |
G |
1: 156,194,017 (GRCm39) |
*124G |
probably null |
Het |
| Rrn3 |
T |
C |
16: 13,606,938 (GRCm39) |
S151P |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,514,633 (GRCm39) |
V1047A |
possibly damaging |
Het |
| Scn9a |
G |
T |
2: 66,345,724 (GRCm39) |
P1123Q |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,589,430 (GRCm39) |
D706G |
probably damaging |
Het |
| Serpina5 |
A |
T |
12: 104,070,116 (GRCm39) |
T338S |
probably benign |
Het |
| Sez6 |
G |
A |
11: 77,844,894 (GRCm39) |
|
probably null |
Het |
| Shisa4 |
C |
T |
1: 135,300,012 (GRCm39) |
G157D |
probably damaging |
Het |
| Slc1a7 |
G |
T |
4: 107,825,782 (GRCm39) |
D14Y |
probably benign |
Het |
| Slc25a11 |
A |
C |
11: 70,536,999 (GRCm39) |
L51V |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,521,668 (GRCm39) |
|
probably null |
Het |
| Spata13 |
G |
T |
14: 60,928,912 (GRCm39) |
G157W |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,067,933 (GRCm39) |
V2120A |
possibly damaging |
Het |
| Srpra |
T |
C |
9: 35,124,834 (GRCm39) |
|
probably null |
Het |
| Syt6 |
A |
G |
3: 103,494,736 (GRCm39) |
I234V |
probably benign |
Het |
| Thada |
G |
T |
17: 84,617,470 (GRCm39) |
P1349T |
probably damaging |
Het |
| Tmem161a |
C |
T |
8: 70,629,559 (GRCm39) |
R58W |
probably damaging |
Het |
| Top3b |
A |
G |
16: 16,701,383 (GRCm39) |
I232V |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,020,826 (GRCm39) |
Q197L |
possibly damaging |
Het |
| Ttc28 |
A |
C |
5: 111,383,501 (GRCm39) |
Y1334S |
probably benign |
Het |
| Ubxn6 |
G |
T |
17: 56,380,077 (GRCm39) |
N28K |
possibly damaging |
Het |
| Uggt1 |
T |
C |
1: 36,190,862 (GRCm39) |
D1366G |
probably damaging |
Het |
| Ugp2 |
A |
G |
11: 21,278,942 (GRCm39) |
S415P |
probably damaging |
Het |
| Vcan |
A |
T |
13: 89,837,157 (GRCm39) |
S2796T |
probably damaging |
Het |
| Vipr2 |
T |
C |
12: 116,099,826 (GRCm39) |
V231A |
probably benign |
Het |
| Vmn1r176 |
T |
C |
7: 23,534,373 (GRCm39) |
N260S |
probably benign |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,038 (GRCm39) |
Y241N |
probably damaging |
Het |
| Vmn2r67 |
A |
T |
7: 84,801,013 (GRCm39) |
Y308N |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,797,470 (GRCm39) |
M781K |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,379,394 (GRCm39) |
I500F |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,702,559 (GRCm39) |
V31A |
probably damaging |
Het |
| Zfp689 |
G |
T |
7: 127,043,959 (GRCm39) |
Q224K |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,475 (GRCm39) |
L113H |
probably benign |
Het |
|
| Other mutations in Akap6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Akap6
|
APN |
12 |
53,187,763 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL00505:Akap6
|
APN |
12 |
52,933,885 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01134:Akap6
|
APN |
12 |
52,984,000 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01458:Akap6
|
APN |
12 |
52,933,601 (GRCm39) |
nonsense |
probably null |
|
|
IGL01589:Akap6
|
APN |
12 |
53,186,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01592:Akap6
|
APN |
12 |
53,188,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01738:Akap6
|
APN |
12 |
52,933,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01867:Akap6
|
APN |
12 |
52,934,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02025:Akap6
|
APN |
12 |
53,187,118 (GRCm39) |
missense |
probably benign |
|
|
IGL02041:Akap6
|
APN |
12 |
53,187,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02058:Akap6
|
APN |
12 |
53,187,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02194:Akap6
|
APN |
12 |
52,933,606 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02226:Akap6
|
APN |
12 |
53,057,250 (GRCm39) |
splice site |
probably benign |
|
|
IGL02323:Akap6
|
APN |
12 |
53,187,212 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02449:Akap6
|
APN |
12 |
53,186,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02475:Akap6
|
APN |
12 |
53,186,277 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02546:Akap6
|
APN |
12 |
52,927,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02547:Akap6
|
APN |
12 |
53,187,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Akap6
|
APN |
12 |
52,933,282 (GRCm39) |
nonsense |
probably null |
|
|
IGL02608:Akap6
|
APN |
12 |
53,057,389 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02884:Akap6
|
APN |
12 |
52,933,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02945:Akap6
|
APN |
12 |
52,927,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03029:Akap6
|
APN |
12 |
52,933,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03129:Akap6
|
APN |
12 |
53,187,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Akap6
|
UTSW |
12 |
53,186,254 (GRCm39) |
nonsense |
probably null |
|
|
R0166:Akap6
|
UTSW |
12 |
53,187,707 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0189:Akap6
|
UTSW |
12 |
53,188,037 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0532:Akap6
|
UTSW |
12 |
52,934,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0632:Akap6
|
UTSW |
12 |
52,983,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0666:Akap6
|
UTSW |
12 |
52,958,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Akap6
|
UTSW |
12 |
53,188,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0763:Akap6
|
UTSW |
12 |
53,188,997 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0785:Akap6
|
UTSW |
12 |
52,933,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0879:Akap6
|
UTSW |
12 |
52,927,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0880:Akap6
|
UTSW |
12 |
53,186,291 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1033:Akap6
|
UTSW |
12 |
53,116,005 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1055:Akap6
|
UTSW |
12 |
52,927,455 (GRCm39) |
nonsense |
probably null |
|
|
R1199:Akap6
|
UTSW |
12 |
52,842,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Akap6
|
UTSW |
12 |
52,933,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1389:Akap6
|
UTSW |
12 |
53,186,303 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1471:Akap6
|
UTSW |
12 |
53,188,279 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1483:Akap6
|
UTSW |
12 |
52,842,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1512:Akap6
|
UTSW |
12 |
52,983,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Akap6
|
UTSW |
12 |
53,188,789 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Akap6
|
UTSW |
12 |
53,115,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1888:Akap6
|
UTSW |
12 |
53,188,958 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1888:Akap6
|
UTSW |
12 |
53,188,958 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1891:Akap6
|
UTSW |
12 |
53,188,958 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1899:Akap6
|
UTSW |
12 |
53,188,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1917:Akap6
|
UTSW |
12 |
53,151,395 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1987:Akap6
|
UTSW |
12 |
53,187,578 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1988:Akap6
|
UTSW |
12 |
53,187,578 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2153:Akap6
|
UTSW |
12 |
53,188,187 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2567:Akap6
|
UTSW |
12 |
52,985,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2568:Akap6
|
UTSW |
12 |
52,934,061 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3025:Akap6
|
UTSW |
12 |
53,186,926 (GRCm39) |
missense |
probably benign |
|
|
R3051:Akap6
|
UTSW |
12 |
52,933,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3195:Akap6
|
UTSW |
12 |
53,119,240 (GRCm39) |
nonsense |
probably null |
|
|
R3196:Akap6
|
UTSW |
12 |
53,119,240 (GRCm39) |
nonsense |
probably null |
|
|
R3426:Akap6
|
UTSW |
12 |
52,934,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3783:Akap6
|
UTSW |
12 |
52,927,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Akap6
|
UTSW |
12 |
53,187,227 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3936:Akap6
|
UTSW |
12 |
53,187,227 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3967:Akap6
|
UTSW |
12 |
53,188,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3970:Akap6
|
UTSW |
12 |
53,188,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Akap6
|
UTSW |
12 |
53,186,162 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4095:Akap6
|
UTSW |
12 |
53,186,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4152:Akap6
|
UTSW |
12 |
53,187,190 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4231:Akap6
|
UTSW |
12 |
53,187,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4232:Akap6
|
UTSW |
12 |
53,186,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Akap6
|
UTSW |
12 |
53,186,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Akap6
|
UTSW |
12 |
53,186,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Akap6
|
UTSW |
12 |
53,186,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Akap6
|
UTSW |
12 |
53,186,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4475:Akap6
|
UTSW |
12 |
53,188,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4513:Akap6
|
UTSW |
12 |
52,842,787 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4686:Akap6
|
UTSW |
12 |
52,934,406 (GRCm39) |
frame shift |
probably null |
|
|
R4724:Akap6
|
UTSW |
12 |
52,842,668 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4782:Akap6
|
UTSW |
12 |
52,934,406 (GRCm39) |
frame shift |
probably null |
|
|
R4852:Akap6
|
UTSW |
12 |
53,151,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5024:Akap6
|
UTSW |
12 |
53,189,345 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5116:Akap6
|
UTSW |
12 |
53,188,298 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5164:Akap6
|
UTSW |
12 |
53,189,249 (GRCm39) |
missense |
probably benign |
|
|
R5225:Akap6
|
UTSW |
12 |
52,933,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Akap6
|
UTSW |
12 |
53,186,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Akap6
|
UTSW |
12 |
52,842,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Akap6
|
UTSW |
12 |
53,187,436 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5551:Akap6
|
UTSW |
12 |
52,842,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5997:Akap6
|
UTSW |
12 |
52,984,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6137:Akap6
|
UTSW |
12 |
53,187,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Akap6
|
UTSW |
12 |
53,072,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Akap6
|
UTSW |
12 |
53,189,141 (GRCm39) |
missense |
probably benign |
|
|
R6307:Akap6
|
UTSW |
12 |
53,188,351 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6351:Akap6
|
UTSW |
12 |
53,188,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6479:Akap6
|
UTSW |
12 |
53,187,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6502:Akap6
|
UTSW |
12 |
53,186,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6760:Akap6
|
UTSW |
12 |
53,186,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Akap6
|
UTSW |
12 |
53,072,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6837:Akap6
|
UTSW |
12 |
53,188,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6896:Akap6
|
UTSW |
12 |
52,934,277 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6917:Akap6
|
UTSW |
12 |
53,115,951 (GRCm39) |
missense |
probably null |
0.97 |
|
R6983:Akap6
|
UTSW |
12 |
52,934,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7142:Akap6
|
UTSW |
12 |
52,934,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7143:Akap6
|
UTSW |
12 |
52,934,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7216:Akap6
|
UTSW |
12 |
53,187,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7297:Akap6
|
UTSW |
12 |
52,934,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7356:Akap6
|
UTSW |
12 |
52,958,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Akap6
|
UTSW |
12 |
53,189,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7382:Akap6
|
UTSW |
12 |
53,188,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7498:Akap6
|
UTSW |
12 |
53,189,488 (GRCm39) |
nonsense |
probably null |
|
|
R7542:Akap6
|
UTSW |
12 |
53,116,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7589:Akap6
|
UTSW |
12 |
53,188,846 (GRCm39) |
nonsense |
probably null |
|
|
R7676:Akap6
|
UTSW |
12 |
52,933,633 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7814:Akap6
|
UTSW |
12 |
53,187,744 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7971:Akap6
|
UTSW |
12 |
53,186,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8039:Akap6
|
UTSW |
12 |
53,188,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8425:Akap6
|
UTSW |
12 |
52,933,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8747:Akap6
|
UTSW |
12 |
53,188,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8885:Akap6
|
UTSW |
12 |
53,188,319 (GRCm39) |
missense |
probably benign |
|
|
R8956:Akap6
|
UTSW |
12 |
53,187,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8989:Akap6
|
UTSW |
12 |
52,927,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Akap6
|
UTSW |
12 |
53,186,403 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9031:Akap6
|
UTSW |
12 |
53,188,831 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9216:Akap6
|
UTSW |
12 |
52,927,668 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9220:Akap6
|
UTSW |
12 |
53,187,232 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R9243:Akap6
|
UTSW |
12 |
53,188,035 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9286:Akap6
|
UTSW |
12 |
53,119,254 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9347:Akap6
|
UTSW |
12 |
53,115,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9475:Akap6
|
UTSW |
12 |
53,057,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Akap6
|
UTSW |
12 |
53,189,021 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9523:Akap6
|
UTSW |
12 |
52,842,672 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9600:Akap6
|
UTSW |
12 |
52,933,341 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9612:Akap6
|
UTSW |
12 |
52,958,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Akap6
|
UTSW |
12 |
53,151,413 (GRCm39) |
missense |
|
|
|
R9666:Akap6
|
UTSW |
12 |
53,188,318 (GRCm39) |
missense |
probably benign |
|
|
R9784:Akap6
|
UTSW |
12 |
53,187,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Akap6
|
UTSW |
12 |
53,189,144 (GRCm39) |
missense |
probably benign |
0.43 |
|
Z1176:Akap6
|
UTSW |
12 |
53,187,227 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCACAACTTGTGCTTTC -3'
(R):5'- CCTCTTCCTGGAAAACTTGAAAG -3'
Sequencing Primer
(F):5'- AACTTGTGCTTTCCTCTCCTTTGG -3'
(R):5'- AACTTGAAAGTTGTCGCCTTTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation