Incidental Mutation 'R1168:Alpk3'
ID |
101314 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Alpk3
|
Ensembl Gene |
ENSMUSG00000038763 |
Gene Name |
alpha-kinase 3 |
Synonyms |
Midori |
MMRRC Submission |
039241-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.355)
|
Stock # |
R1168 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
80707348-80755360 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80753105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 1554
(K1554M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102971
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107348]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107348
AA Change: K1554M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102971 Gene: ENSMUSG00000038763 AA Change: K1554M
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151115
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 88.8%
|
Validation Efficiency |
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,773,661 (GRCm39) |
V950A |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,865,280 (GRCm39) |
S188T |
probably benign |
Het |
Ahr |
A |
T |
12: 35,554,531 (GRCm39) |
N529K |
possibly damaging |
Het |
Akr1c21 |
A |
G |
13: 4,633,836 (GRCm39) |
N302D |
probably benign |
Het |
Aldh8a1 |
T |
A |
10: 21,260,530 (GRCm39) |
|
probably null |
Het |
Arhgef5 |
T |
A |
6: 43,250,330 (GRCm39) |
H360Q |
probably benign |
Het |
Cacna1a |
A |
G |
8: 85,306,130 (GRCm39) |
I1293V |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Cd200r4 |
T |
A |
16: 44,653,307 (GRCm39) |
W72R |
probably damaging |
Het |
Ces2e |
A |
T |
8: 105,653,646 (GRCm39) |
D28V |
possibly damaging |
Het |
Cfap20dc |
T |
C |
14: 8,442,939 (GRCm38) |
N610S |
probably benign |
Het |
Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
Cfap54 |
A |
T |
10: 92,773,782 (GRCm39) |
C87S |
probably damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Chrna4 |
T |
A |
2: 180,675,931 (GRCm39) |
M67L |
possibly damaging |
Het |
Cplx3 |
G |
A |
9: 57,515,595 (GRCm39) |
R427C |
probably benign |
Het |
Cts7 |
T |
A |
13: 61,501,631 (GRCm39) |
N290Y |
probably damaging |
Het |
Enpp6 |
A |
T |
8: 47,483,489 (GRCm39) |
M94L |
probably damaging |
Het |
Fam83d |
C |
T |
2: 158,610,443 (GRCm39) |
A137V |
probably benign |
Het |
Foxd2 |
C |
T |
4: 114,764,875 (GRCm39) |
A382T |
possibly damaging |
Het |
Galnt11 |
T |
G |
5: 25,455,244 (GRCm39) |
S193R |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,594,481 (GRCm39) |
D856E |
probably damaging |
Het |
Gclm |
T |
A |
3: 122,056,337 (GRCm39) |
H86Q |
possibly damaging |
Het |
Gipc2 |
T |
C |
3: 151,813,634 (GRCm39) |
T220A |
probably benign |
Het |
Gm12185 |
G |
T |
11: 48,806,182 (GRCm39) |
N336K |
possibly damaging |
Het |
Gm5431 |
A |
T |
11: 48,786,191 (GRCm39) |
S61R |
probably benign |
Het |
Gorasp2 |
C |
T |
2: 70,518,744 (GRCm39) |
P260S |
probably damaging |
Het |
H2-M10.6 |
A |
G |
17: 37,124,052 (GRCm39) |
Q172R |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,450,018 (GRCm39) |
I6V |
probably damaging |
Het |
Iqsec1 |
T |
C |
6: 90,666,658 (GRCm39) |
Y593C |
probably damaging |
Het |
Irag1 |
T |
C |
7: 110,495,138 (GRCm39) |
K429R |
probably damaging |
Het |
Itln1 |
G |
T |
1: 171,359,119 (GRCm39) |
Y61* |
probably null |
Het |
Kif21a |
G |
A |
15: 90,877,956 (GRCm39) |
T284I |
probably damaging |
Het |
Kif3a |
G |
A |
11: 53,489,139 (GRCm39) |
G621R |
probably damaging |
Het |
Klb |
A |
G |
5: 65,536,317 (GRCm39) |
Y549C |
probably damaging |
Het |
Lrrc37 |
T |
C |
11: 103,509,776 (GRCm39) |
|
probably benign |
Het |
Map4 |
T |
C |
9: 109,864,032 (GRCm39) |
V419A |
probably benign |
Het |
Mastl |
A |
T |
2: 23,023,144 (GRCm39) |
D526E |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,486,914 (GRCm39) |
D308G |
probably benign |
Het |
Ncald |
A |
G |
15: 37,397,578 (GRCm39) |
F34S |
probably damaging |
Het |
Ndc1 |
A |
G |
4: 107,253,009 (GRCm39) |
T593A |
probably benign |
Het |
Ndst3 |
C |
T |
3: 123,400,617 (GRCm39) |
V15I |
probably benign |
Het |
Nup214 |
A |
G |
2: 31,915,313 (GRCm39) |
N1166D |
probably benign |
Het |
Or1a1 |
A |
G |
11: 74,087,247 (GRCm39) |
H306R |
probably benign |
Het |
Or2ad1 |
A |
G |
13: 21,326,787 (GRCm39) |
S147P |
probably benign |
Het |
Or4a68 |
G |
A |
2: 89,270,213 (GRCm39) |
Q137* |
probably null |
Het |
Or5m8 |
A |
T |
2: 85,823,028 (GRCm39) |
Y289F |
probably damaging |
Het |
Pcdhb8 |
T |
C |
18: 37,489,780 (GRCm39) |
I486T |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,152 (GRCm39) |
Y768F |
probably benign |
Het |
Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
Plcl2 |
G |
A |
17: 50,914,100 (GRCm39) |
A370T |
possibly damaging |
Het |
Pnkp |
T |
A |
7: 44,511,961 (GRCm39) |
W115R |
probably benign |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Prag1 |
A |
G |
8: 36,613,799 (GRCm39) |
E1117G |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,678,471 (GRCm39) |
Q1919L |
unknown |
Het |
Ret |
G |
T |
6: 118,150,519 (GRCm39) |
H666N |
possibly damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Robo2 |
C |
T |
16: 73,745,184 (GRCm39) |
G864S |
probably damaging |
Het |
Rpa2 |
T |
G |
4: 132,499,171 (GRCm39) |
I80S |
probably damaging |
Het |
Ryk |
A |
T |
9: 102,775,674 (GRCm39) |
D428V |
probably damaging |
Het |
Slc29a1 |
A |
T |
17: 45,901,204 (GRCm39) |
N30K |
probably damaging |
Het |
Stbd1 |
A |
G |
5: 92,752,795 (GRCm39) |
N95S |
probably benign |
Het |
Tbc1d22a |
A |
G |
15: 86,176,335 (GRCm39) |
E212G |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,427,568 (GRCm39) |
T7A |
probably benign |
Het |
Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
Tmem132b |
G |
T |
5: 125,864,083 (GRCm39) |
V730F |
probably damaging |
Het |
Tmub2 |
G |
A |
11: 102,178,196 (GRCm39) |
G33D |
possibly damaging |
Het |
Trak1 |
G |
A |
9: 121,269,745 (GRCm39) |
D124N |
probably damaging |
Het |
Ttc28 |
A |
T |
5: 111,378,977 (GRCm39) |
Y1154F |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,739,713 (GRCm39) |
T3609A |
probably benign |
Het |
Tulp2 |
A |
G |
7: 45,167,266 (GRCm39) |
T99A |
probably benign |
Het |
Ugt2a2 |
A |
T |
5: 87,613,427 (GRCm39) |
|
probably null |
Het |
Ush2a |
G |
A |
1: 188,410,608 (GRCm39) |
V2419I |
probably benign |
Het |
Vill |
C |
A |
9: 118,899,389 (GRCm39) |
P343Q |
probably damaging |
Het |
Vmn2r66 |
T |
A |
7: 84,656,062 (GRCm39) |
H318L |
possibly damaging |
Het |
Wdr3 |
A |
C |
3: 100,049,535 (GRCm39) |
N800K |
probably benign |
Het |
Wdr93 |
A |
G |
7: 79,398,922 (GRCm39) |
K19E |
probably damaging |
Het |
Wrn |
A |
G |
8: 33,806,436 (GRCm39) |
S333P |
probably damaging |
Het |
Zfp418 |
T |
C |
7: 7,185,500 (GRCm39) |
S488P |
possibly damaging |
Het |
Zfp804a |
A |
G |
2: 82,087,041 (GRCm39) |
E290G |
probably benign |
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 |
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 |
R5770:Alpk3
|
UTSW |
7 |
80,728,310 (GRCm39) |
missense |
probably benign |
0.02 |
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 |
|
Posted On |
2014-01-15 |