Incidental Mutation 'R5770:Alpk3'
| ID |
446490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk3
|
| Ensembl Gene |
ENSMUSG00000038763 |
| Gene Name |
alpha-kinase 3 |
| Synonyms |
Midori |
| MMRRC Submission |
043370-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.355)
|
| Stock # |
R5770 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80707348-80755360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80728310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 480
(E480G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107348]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107348
AA Change: E480G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: E480G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
IGc2
|
89 |
159 |
2.78e-11 |
SMART |
|
low complexity region
|
183 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
514 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
586 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
958 |
971 |
N/A |
INTRINSIC |
|
low complexity region
|
1048 |
1058 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1087 |
N/A |
INTRINSIC |
|
IG_like
|
1264 |
1330 |
5.73e-2 |
SMART |
|
low complexity region
|
1350 |
1359 |
N/A |
INTRINSIC |
|
Alpha_kinase
|
1395 |
1592 |
1.17e-44 |
SMART |
|
| Meta Mutation Damage Score |
0.0896 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
93% (64/69) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene-trappped allele exhibit altered cardiomyocyte architecture and develop a non-progressive cardiomyopathy that presents features of both hypertrophic and dilated forms of cardiomyopathy, [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
| Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
| Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
| Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
| Bcl9 |
T |
C |
3: 97,122,491 (GRCm39) |
I103V |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,552,769 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
| Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
| Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
| Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
| Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
| Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
| Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
| Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
| Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
| Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
| Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
| Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
| Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
| Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
| Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
| Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
| Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,414 (GRCm39) |
V172E |
probably benign |
Het |
| Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
| Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
| Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
| Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
| Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
| Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
| Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
| Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
| Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
| Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
| Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
T |
17: 59,186,146 (GRCm39) |
I1215N |
probably damaging |
Het |
| Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
| Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
| Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
| Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
| Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,092,466 (GRCm39) |
I238M |
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
| Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
| Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
| Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
| Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
| Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
| Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
| Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
probably damaging |
Het |
|
| Other mutations in Alpk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Alpk3
|
APN |
7 |
80,727,757 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00472:Alpk3
|
APN |
7 |
80,745,401 (GRCm39) |
splice site |
probably benign |
|
|
IGL01732:Alpk3
|
APN |
7 |
80,707,390 (GRCm39) |
missense |
unknown |
|
|
IGL01750:Alpk3
|
APN |
7 |
80,742,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01812:Alpk3
|
APN |
7 |
80,749,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02224:Alpk3
|
APN |
7 |
80,726,616 (GRCm39) |
splice site |
probably benign |
|
|
IGL02292:Alpk3
|
APN |
7 |
80,727,653 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02340:Alpk3
|
APN |
7 |
80,728,255 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02517:Alpk3
|
APN |
7 |
80,727,643 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02725:Alpk3
|
APN |
7 |
80,743,358 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02755:Alpk3
|
APN |
7 |
80,743,507 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03035:Alpk3
|
APN |
7 |
80,728,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03102:Alpk3
|
APN |
7 |
80,744,804 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03153:Alpk3
|
APN |
7 |
80,743,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03255:Alpk3
|
APN |
7 |
80,742,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03367:Alpk3
|
APN |
7 |
80,744,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4304:Alpk3
|
UTSW |
7 |
80,727,510 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Alpk3
|
UTSW |
7 |
80,727,510 (GRCm39) |
small insertion |
probably benign |
|
|
IGL03097:Alpk3
|
UTSW |
7 |
80,743,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0092:Alpk3
|
UTSW |
7 |
80,742,301 (GRCm39) |
missense |
probably benign |
|
|
R0254:Alpk3
|
UTSW |
7 |
80,726,722 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0310:Alpk3
|
UTSW |
7 |
80,728,358 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0325:Alpk3
|
UTSW |
7 |
80,717,701 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0387:Alpk3
|
UTSW |
7 |
80,753,975 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0971:Alpk3
|
UTSW |
7 |
80,742,327 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1078:Alpk3
|
UTSW |
7 |
80,728,348 (GRCm39) |
missense |
probably benign |
|
|
R1146:Alpk3
|
UTSW |
7 |
80,727,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1146:Alpk3
|
UTSW |
7 |
80,727,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1168:Alpk3
|
UTSW |
7 |
80,753,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1306:Alpk3
|
UTSW |
7 |
80,743,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Alpk3
|
UTSW |
7 |
80,726,679 (GRCm39) |
nonsense |
probably null |
|
|
R2173:Alpk3
|
UTSW |
7 |
80,726,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2350:Alpk3
|
UTSW |
7 |
80,744,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2414:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2417:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2885:Alpk3
|
UTSW |
7 |
80,749,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3004:Alpk3
|
UTSW |
7 |
80,753,103 (GRCm39) |
nonsense |
probably null |
|
|
R3796:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3797:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3798:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3799:Alpk3
|
UTSW |
7 |
80,742,501 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3894:Alpk3
|
UTSW |
7 |
80,728,138 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4395:Alpk3
|
UTSW |
7 |
80,744,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4761:Alpk3
|
UTSW |
7 |
80,753,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5505:Alpk3
|
UTSW |
7 |
80,728,309 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5540:Alpk3
|
UTSW |
7 |
80,745,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Alpk3
|
UTSW |
7 |
80,728,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5964:Alpk3
|
UTSW |
7 |
80,742,008 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6036:Alpk3
|
UTSW |
7 |
80,743,005 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6036:Alpk3
|
UTSW |
7 |
80,743,005 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6066:Alpk3
|
UTSW |
7 |
80,726,698 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6517:Alpk3
|
UTSW |
7 |
80,728,327 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6578:Alpk3
|
UTSW |
7 |
80,728,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7230:Alpk3
|
UTSW |
7 |
80,743,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Alpk3
|
UTSW |
7 |
80,742,328 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7271:Alpk3
|
UTSW |
7 |
80,728,202 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7402:Alpk3
|
UTSW |
7 |
80,726,660 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7411:Alpk3
|
UTSW |
7 |
80,742,600 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7454:Alpk3
|
UTSW |
7 |
80,728,310 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7468:Alpk3
|
UTSW |
7 |
80,750,746 (GRCm39) |
nonsense |
probably null |
|
|
R7940:Alpk3
|
UTSW |
7 |
80,743,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Alpk3
|
UTSW |
7 |
80,743,470 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8246:Alpk3
|
UTSW |
7 |
80,742,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8357:Alpk3
|
UTSW |
7 |
80,743,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Alpk3
|
UTSW |
7 |
80,707,468 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8457:Alpk3
|
UTSW |
7 |
80,743,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8775:Alpk3
|
UTSW |
7 |
80,727,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Alpk3
|
UTSW |
7 |
80,727,598 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8794:Alpk3
|
UTSW |
7 |
80,707,403 (GRCm39) |
missense |
unknown |
|
|
R8982:Alpk3
|
UTSW |
7 |
80,748,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9259:Alpk3
|
UTSW |
7 |
80,743,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9343:Alpk3
|
UTSW |
7 |
80,742,079 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9567:Alpk3
|
UTSW |
7 |
80,742,687 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9792:Alpk3
|
UTSW |
7 |
80,750,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9793:Alpk3
|
UTSW |
7 |
80,750,881 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9798:Alpk3
|
UTSW |
7 |
80,742,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
RF034:Alpk3
|
UTSW |
7 |
80,742,162 (GRCm39) |
small deletion |
probably benign |
|
|
RF057:Alpk3
|
UTSW |
7 |
80,742,165 (GRCm39) |
frame shift |
probably null |
|
|
X0022:Alpk3
|
UTSW |
7 |
80,743,645 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Alpk3
|
UTSW |
7 |
80,728,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCATTCAAGACAAGGTCC -3'
(R):5'- AGAGCCTTCCCTAAGCTCTG -3'
Sequencing Primer
(F):5'- TTCAAGACAAGGTCCAGGATGTCC -3'
(R):5'- AAGCTCTGGGCCATAGATTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation