Incidental Mutation 'IGL03102:Alpk3'
| ID |
418812 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Alpk3
|
| Ensembl Gene |
ENSMUSG00000038763 |
| Gene Name |
alpha-kinase 3 |
| Synonyms |
Midori |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
IGL03102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
80707348-80755360 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 80744804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107348]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000107348
|
| SMART Domains |
Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
| Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
| Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
| Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
| Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
| Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
| Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
| Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
| Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
| Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
| Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
| Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
| Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
| Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
| Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,490,553 (GRCm39) |
N211K |
possibly damaging |
Het |
| Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
| Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
| Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation