Incidental Mutation 'R2276:Akap11'
| ID |
242826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Akap11
|
| Ensembl Gene |
ENSMUSG00000022016 |
| Gene Name |
A kinase anchor protein 11 |
| Synonyms |
6330501D17Rik |
| MMRRC Submission |
040275-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2276 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
78729686-78774248 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78747477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 1637
(I1637L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022593]
[ENSMUST00000123853]
|
| AlphaFold |
E9Q777 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022593
AA Change: I1637L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022593
Gene: ENSMUSG00000022016
AA Change: I1637L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1614 |
N/A |
INTRINSIC |
|
low complexity region
|
1631 |
1648 |
N/A |
INTRINSIC |
|
low complexity region
|
1738 |
1755 |
N/A |
INTRINSIC |
|
low complexity region
|
1767 |
1788 |
N/A |
INTRINSIC |
|
Blast:AKAP_110
|
1790 |
1883 |
2e-8 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123853
AA Change: I1637L
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116015
Gene: ENSMUSG00000022016
AA Change: I1637L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
108 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
170 |
179 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
344 |
365 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
609 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
727 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
1161 |
1173 |
N/A |
INTRINSIC |
|
low complexity region
|
1597 |
1614 |
N/A |
INTRINSIC |
|
low complexity region
|
1631 |
1648 |
N/A |
INTRINSIC |
|
low complexity region
|
1731 |
1756 |
N/A |
INTRINSIC |
|
low complexity region
|
1768 |
1789 |
N/A |
INTRINSIC |
|
Blast:AKAP_110
|
1791 |
1884 |
2e-8 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226416
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227722
|
| Meta Mutation Damage Score |
0.0965 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (65/65) |
| 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 expressed at high levels throughout spermatogenesis and in mature sperm. It binds the RI and RII subunits of PKA in testis. It may serve a function in cell cycle control of both somatic cells and germ cells in addition to its putative role in spermatogenesis and sperm function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show a reduction in body size, body length and tibia length, hypoactivity, slow movement and increased anxiety-related responses, and exhibit actin barrier defects in kidney collecting duct cells and increased urine osmolality in response to overhydration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd27 |
T |
C |
7: 35,315,265 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
T |
C |
5: 96,978,349 (GRCm39) |
|
probably null |
Het |
| Arfgef2 |
G |
C |
2: 166,707,679 (GRCm39) |
G1025A |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,035,512 (GRCm39) |
M277V |
probably benign |
Het |
| Cep112 |
A |
T |
11: 108,746,671 (GRCm39) |
R176S |
probably damaging |
Het |
| Chd9 |
C |
T |
8: 91,760,615 (GRCm39) |
P2120L |
probably benign |
Het |
| Cnga1 |
C |
T |
5: 72,776,404 (GRCm39) |
V20I |
possibly damaging |
Het |
| Cpped1 |
A |
C |
16: 11,712,745 (GRCm39) |
|
probably null |
Het |
| Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
| Dbf4 |
T |
C |
5: 8,471,333 (GRCm39) |
N36S |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,090,564 (GRCm39) |
S2210L |
probably benign |
Het |
| Dnajb12 |
C |
T |
10: 59,728,799 (GRCm39) |
T229I |
probably benign |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Epb41l2 |
T |
C |
10: 25,364,842 (GRCm39) |
|
probably benign |
Het |
| Fam178b |
A |
G |
1: 36,671,539 (GRCm39) |
L194P |
probably damaging |
Het |
| Fam50b |
C |
T |
13: 34,930,823 (GRCm39) |
Q100* |
probably null |
Het |
| Gimap9 |
A |
G |
6: 48,654,812 (GRCm39) |
H133R |
probably benign |
Het |
| Gpbp1 |
A |
T |
13: 111,603,512 (GRCm39) |
|
probably null |
Het |
| Gpr89 |
A |
G |
3: 96,804,743 (GRCm39) |
Y38H |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,732,105 (GRCm39) |
Y307F |
probably benign |
Het |
| H4c16 |
T |
A |
6: 136,781,299 (GRCm39) |
I27F |
probably damaging |
Het |
| Hip1 |
C |
T |
5: 135,485,900 (GRCm39) |
R101K |
probably damaging |
Het |
| Hsf4 |
G |
A |
8: 105,996,628 (GRCm39) |
D18N |
probably null |
Het |
| Igfn1 |
T |
C |
1: 135,892,479 (GRCm39) |
K2214E |
probably damaging |
Het |
| Itgal |
A |
T |
7: 126,927,919 (GRCm39) |
E1038V |
probably null |
Het |
| Kank2 |
C |
A |
9: 21,681,080 (GRCm39) |
M816I |
probably damaging |
Het |
| Kctd15 |
T |
C |
7: 34,344,366 (GRCm39) |
D95G |
possibly damaging |
Het |
| Kif1a |
A |
T |
1: 92,996,199 (GRCm39) |
|
probably benign |
Het |
| Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,885,429 (GRCm39) |
F432L |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
| Nisch |
T |
C |
14: 30,898,803 (GRCm39) |
|
probably benign |
Het |
| Or2h1b |
A |
T |
17: 37,462,145 (GRCm39) |
C239* |
probably null |
Het |
| Osbpl2 |
G |
A |
2: 179,790,319 (GRCm39) |
G198S |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,764,287 (GRCm39) |
D4253E |
unknown |
Het |
| Phactr1 |
A |
T |
13: 43,231,265 (GRCm39) |
S244C |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,865 (GRCm39) |
S478G |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,419,875 (GRCm39) |
I79N |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
| Rars2 |
T |
C |
4: 34,656,835 (GRCm39) |
S495P |
probably damaging |
Het |
| Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
| Rhou |
T |
C |
8: 124,382,258 (GRCm39) |
V100A |
probably damaging |
Het |
| Rpn2 |
A |
G |
2: 157,152,208 (GRCm39) |
T394A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,479,664 (GRCm39) |
M4386K |
possibly damaging |
Het |
| Scmh1 |
G |
T |
4: 120,340,869 (GRCm39) |
C185F |
probably damaging |
Het |
| Sema3d |
A |
T |
5: 12,592,549 (GRCm39) |
Q326L |
possibly damaging |
Het |
| Sis |
T |
A |
3: 72,821,934 (GRCm39) |
K1376* |
probably null |
Het |
| Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
| Slc26a5 |
A |
G |
5: 22,028,545 (GRCm39) |
V304A |
probably benign |
Het |
| Slc39a7 |
C |
T |
17: 34,250,241 (GRCm39) |
|
probably benign |
Het |
| Slco1a4 |
A |
G |
6: 141,761,308 (GRCm39) |
V435A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Tgm5 |
T |
A |
2: 120,879,304 (GRCm39) |
|
probably benign |
Het |
| Tgm7 |
A |
G |
2: 120,929,045 (GRCm39) |
S284P |
probably damaging |
Het |
| Tmem132d |
G |
A |
5: 127,872,987 (GRCm39) |
R541W |
probably damaging |
Het |
| Tmem170 |
C |
A |
8: 112,596,349 (GRCm39) |
V59L |
probably benign |
Het |
| Tpbgl |
G |
T |
7: 99,275,233 (GRCm39) |
A208E |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
| Ulk1 |
T |
C |
5: 110,936,028 (GRCm39) |
E827G |
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,687,790 (GRCm39) |
V886A |
possibly damaging |
Het |
| Wrn |
A |
T |
8: 33,814,584 (GRCm39) |
C44S |
probably benign |
Het |
| Zscan22 |
T |
A |
7: 12,640,750 (GRCm39) |
C331* |
probably null |
Het |
|
| Other mutations in Akap11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Akap11
|
APN |
14 |
78,748,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00902:Akap11
|
APN |
14 |
78,733,278 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01752:Akap11
|
APN |
14 |
78,747,318 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01972:Akap11
|
APN |
14 |
78,745,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02031:Akap11
|
APN |
14 |
78,751,253 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02239:Akap11
|
APN |
14 |
78,751,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Akap11
|
APN |
14 |
78,748,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Akap11
|
APN |
14 |
78,736,402 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03130:Akap11
|
APN |
14 |
78,747,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL03179:Akap11
|
APN |
14 |
78,745,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03240:Akap11
|
APN |
14 |
78,733,345 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03331:Akap11
|
APN |
14 |
78,751,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bonham
|
UTSW |
14 |
78,736,304 (GRCm39) |
nonsense |
probably null |
|
|
R0004:Akap11
|
UTSW |
14 |
78,752,380 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0020:Akap11
|
UTSW |
14 |
78,755,617 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0200:Akap11
|
UTSW |
14 |
78,748,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0281:Akap11
|
UTSW |
14 |
78,747,529 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0320:Akap11
|
UTSW |
14 |
78,750,819 (GRCm39) |
missense |
probably benign |
|
|
R0381:Akap11
|
UTSW |
14 |
78,750,990 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0536:Akap11
|
UTSW |
14 |
78,751,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Akap11
|
UTSW |
14 |
78,748,193 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0735:Akap11
|
UTSW |
14 |
78,747,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1189:Akap11
|
UTSW |
14 |
78,750,787 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1400:Akap11
|
UTSW |
14 |
78,751,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1406:Akap11
|
UTSW |
14 |
78,750,189 (GRCm39) |
missense |
probably benign |
|
|
R1406:Akap11
|
UTSW |
14 |
78,750,189 (GRCm39) |
missense |
probably benign |
|
|
R1501:Akap11
|
UTSW |
14 |
78,750,787 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1588:Akap11
|
UTSW |
14 |
78,747,685 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1717:Akap11
|
UTSW |
14 |
78,750,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1823:Akap11
|
UTSW |
14 |
78,748,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1847:Akap11
|
UTSW |
14 |
78,751,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1874:Akap11
|
UTSW |
14 |
78,749,306 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2031:Akap11
|
UTSW |
14 |
78,747,477 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2032:Akap11
|
UTSW |
14 |
78,747,477 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2763:Akap11
|
UTSW |
14 |
78,756,332 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4483:Akap11
|
UTSW |
14 |
78,747,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4582:Akap11
|
UTSW |
14 |
78,749,369 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4857:Akap11
|
UTSW |
14 |
78,736,300 (GRCm39) |
missense |
|
|
|
R4922:Akap11
|
UTSW |
14 |
78,750,220 (GRCm39) |
nonsense |
probably null |
|
|
R4993:Akap11
|
UTSW |
14 |
78,750,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5426:Akap11
|
UTSW |
14 |
78,736,304 (GRCm39) |
nonsense |
probably null |
|
|
R5472:Akap11
|
UTSW |
14 |
78,750,869 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5683:Akap11
|
UTSW |
14 |
78,750,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5774:Akap11
|
UTSW |
14 |
78,748,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6014:Akap11
|
UTSW |
14 |
78,749,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6264:Akap11
|
UTSW |
14 |
78,749,861 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6270:Akap11
|
UTSW |
14 |
78,756,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Akap11
|
UTSW |
14 |
78,750,978 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6376:Akap11
|
UTSW |
14 |
78,752,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Akap11
|
UTSW |
14 |
78,760,029 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6536:Akap11
|
UTSW |
14 |
78,748,754 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7048:Akap11
|
UTSW |
14 |
78,749,954 (GRCm39) |
missense |
|
|
|
R7147:Akap11
|
UTSW |
14 |
78,748,905 (GRCm39) |
missense |
|
|
|
R7473:Akap11
|
UTSW |
14 |
78,751,328 (GRCm39) |
missense |
|
|
|
R7503:Akap11
|
UTSW |
14 |
78,749,441 (GRCm39) |
missense |
|
|
|
R7542:Akap11
|
UTSW |
14 |
78,747,732 (GRCm39) |
missense |
|
|
|
R7618:Akap11
|
UTSW |
14 |
78,736,300 (GRCm39) |
missense |
|
|
|
R7679:Akap11
|
UTSW |
14 |
78,752,256 (GRCm39) |
missense |
|
|
|
R7973:Akap11
|
UTSW |
14 |
78,752,506 (GRCm39) |
missense |
|
|
|
R8094:Akap11
|
UTSW |
14 |
78,750,413 (GRCm39) |
missense |
|
|
|
R8098:Akap11
|
UTSW |
14 |
78,750,362 (GRCm39) |
missense |
|
|
|
R8226:Akap11
|
UTSW |
14 |
78,748,649 (GRCm39) |
missense |
|
|
|
R8269:Akap11
|
UTSW |
14 |
78,750,818 (GRCm39) |
missense |
|
|
|
R8304:Akap11
|
UTSW |
14 |
78,750,672 (GRCm39) |
missense |
|
|
|
R8343:Akap11
|
UTSW |
14 |
78,749,929 (GRCm39) |
missense |
|
|
|
R8389:Akap11
|
UTSW |
14 |
78,756,322 (GRCm39) |
missense |
|
|
|
R8824:Akap11
|
UTSW |
14 |
78,753,787 (GRCm39) |
missense |
|
|
|
R9034:Akap11
|
UTSW |
14 |
78,748,299 (GRCm39) |
missense |
|
|
|
R9189:Akap11
|
UTSW |
14 |
78,750,938 (GRCm39) |
missense |
|
|
|
R9259:Akap11
|
UTSW |
14 |
78,749,949 (GRCm39) |
missense |
|
|
|
R9275:Akap11
|
UTSW |
14 |
78,751,149 (GRCm39) |
missense |
|
|
|
R9434:Akap11
|
UTSW |
14 |
78,747,829 (GRCm39) |
missense |
|
|
|
R9500:Akap11
|
UTSW |
14 |
78,748,543 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGGGCAAAGTTAACTCTTCATTC -3'
(R):5'- TAAGGAATTCCATGGTTGCACC -3'
Sequencing Primer
(F):5'- AAGGCTCTCAGCAAAGCT -3'
(R):5'- GGTTGCACCAGAAATTCTGC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation