Incidental Mutation 'IGL02725:Alpk3'
| ID |
305178 |
| 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: 0.322)
|
| Stock # |
IGL02725
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
81057600-81105612 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 81093610 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 1058
(Q1058H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107348]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107348
AA Change: Q1058H
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: Q1058H
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,474,909 (GRCm38) |
I414T |
possibly damaging |
Het |
| Agpat3 |
A |
C |
10: 78,278,055 (GRCm38) |
D266E |
probably benign |
Het |
| Atat1 |
A |
T |
17: 35,909,489 (GRCm38) |
V37E |
probably benign |
Het |
| Bcl6b |
A |
G |
11: 70,228,518 (GRCm38) |
V124A |
probably damaging |
Het |
| Bmt2 |
T |
C |
6: 13,628,496 (GRCm38) |
E396G |
probably damaging |
Het |
| Ccdc50 |
T |
C |
16: 27,436,597 (GRCm38) |
C237R |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,051,684 (GRCm38) |
I2790M |
possibly damaging |
Het |
| Chkb |
A |
G |
15: 89,429,137 (GRCm38) |
L82P |
probably damaging |
Het |
| Cit |
T |
C |
5: 115,985,473 (GRCm38) |
Y1458H |
probably benign |
Het |
| Clp1 |
T |
A |
2: 84,723,864 (GRCm38) |
K320N |
probably benign |
Het |
| Cry2 |
T |
C |
2: 92,413,260 (GRCm38) |
|
probably benign |
Het |
| Cyp20a1 |
C |
T |
1: 60,366,706 (GRCm38) |
R220W |
probably benign |
Het |
| Cyp27a1 |
C |
T |
1: 74,735,703 (GRCm38) |
P268S |
probably damaging |
Het |
| Cyp2e1 |
T |
G |
7: 140,763,915 (GRCm38) |
I22S |
probably null |
Het |
| Defb34 |
A |
G |
8: 19,123,758 (GRCm38) |
T3A |
unknown |
Het |
| Dpy19l3 |
A |
T |
7: 35,711,918 (GRCm38) |
M422K |
probably benign |
Het |
| Eif4g3 |
A |
T |
4: 138,170,471 (GRCm38) |
|
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,594,775 (GRCm38) |
S7P |
probably damaging |
Het |
| Fam151a |
T |
G |
4: 106,748,014 (GRCm38) |
S524R |
probably damaging |
Het |
| Gcc1 |
A |
T |
6: 28,418,459 (GRCm38) |
V625E |
probably benign |
Het |
| Glmn |
G |
A |
5: 107,575,289 (GRCm38) |
P112S |
possibly damaging |
Het |
| Grm5 |
A |
C |
7: 88,074,665 (GRCm38) |
D721A |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 120,095,822 (GRCm38) |
V445A |
possibly damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,604,903 (GRCm38) |
E4507D |
possibly damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,405,528 (GRCm38) |
E2583A |
probably damaging |
Het |
| Ifnb1 |
T |
A |
4: 88,522,630 (GRCm38) |
I49F |
probably benign |
Het |
| Ints8 |
A |
C |
4: 11,239,406 (GRCm38) |
C306W |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,562,590 (GRCm38) |
S540P |
probably damaging |
Het |
| Kctd1 |
A |
G |
18: 14,969,610 (GRCm38) |
V838A |
possibly damaging |
Het |
| Klk10 |
T |
C |
7: 43,781,620 (GRCm38) |
L29P |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,760,827 (GRCm38) |
I3627K |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 52,103,774 (GRCm38) |
S124P |
probably damaging |
Het |
| Nav2 |
A |
T |
7: 49,565,095 (GRCm38) |
K1632I |
probably damaging |
Het |
| Olfr324 |
T |
C |
11: 58,597,864 (GRCm38) |
V156A |
probably benign |
Het |
| Pde2a |
G |
T |
7: 101,507,218 (GRCm38) |
M616I |
probably null |
Het |
| Pdia2 |
T |
C |
17: 26,196,532 (GRCm38) |
D440G |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,374,489 (GRCm38) |
S14P |
probably damaging |
Het |
| Rhpn2 |
T |
C |
7: 35,379,606 (GRCm38) |
S383P |
probably damaging |
Het |
| Rnf220 |
A |
G |
4: 117,272,379 (GRCm38) |
|
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,731,585 (GRCm38) |
D504G |
probably damaging |
Het |
| Setbp1 |
A |
T |
18: 78,857,374 (GRCm38) |
L1026* |
probably null |
Het |
| Slc1a4 |
A |
T |
11: 20,308,408 (GRCm38) |
S264T |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,432,260 (GRCm38) |
N572S |
possibly damaging |
Het |
| Sptan1 |
T |
C |
2: 29,996,043 (GRCm38) |
I739T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,325,104 (GRCm38) |
P658L |
unknown |
Het |
| Stat5b |
A |
T |
11: 100,805,014 (GRCm38) |
D47E |
possibly damaging |
Het |
| Taar7b |
A |
T |
10: 24,000,063 (GRCm38) |
Y42F |
probably benign |
Het |
| Tfdp2 |
T |
A |
9: 96,287,695 (GRCm38) |
I33K |
possibly damaging |
Het |
| Tm4sf5 |
A |
G |
11: 70,510,622 (GRCm38) |
H149R |
probably benign |
Het |
| Tmco6 |
A |
G |
18: 36,738,707 (GRCm38) |
M257V |
probably benign |
Het |
| Tuba8 |
G |
T |
6: 121,225,957 (GRCm38) |
G410* |
probably null |
Het |
| Ubd |
T |
A |
17: 37,193,962 (GRCm38) |
V4D |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 86,906,425 (GRCm38) |
V166I |
probably benign |
Het |
| Vmn2r70 |
C |
T |
7: 85,565,345 (GRCm38) |
V200I |
possibly damaging |
Het |
| Wdcp |
A |
T |
12: 4,851,206 (GRCm38) |
N354I |
probably damaging |
Het |
| Wipi2 |
A |
T |
5: 142,666,863 (GRCm38) |
Y410F |
possibly damaging |
Het |
| Zc3hav1 |
G |
T |
6: 38,332,192 (GRCm38) |
P565Q |
probably damaging |
Het |
| Zfp398 |
T |
C |
6: 47,865,803 (GRCm38) |
V131A |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,394,893 (GRCm38) |
D144G |
possibly damaging |
Het |
| Zpbp |
T |
A |
11: 11,462,358 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Alpk3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Alpk3
|
APN |
7 |
81,078,009 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL00472:Alpk3
|
APN |
7 |
81,095,653 (GRCm38) |
splice site |
probably benign |
|
|
IGL01732:Alpk3
|
APN |
7 |
81,057,642 (GRCm38) |
missense |
unknown |
|
|
IGL01750:Alpk3
|
APN |
7 |
81,092,282 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01812:Alpk3
|
APN |
7 |
81,100,202 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02224:Alpk3
|
APN |
7 |
81,076,868 (GRCm38) |
splice site |
probably benign |
|
|
IGL02292:Alpk3
|
APN |
7 |
81,077,905 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
IGL02340:Alpk3
|
APN |
7 |
81,078,507 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL02517:Alpk3
|
APN |
7 |
81,077,895 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02755:Alpk3
|
APN |
7 |
81,093,759 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL03035:Alpk3
|
APN |
7 |
81,078,604 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03102:Alpk3
|
APN |
7 |
81,095,056 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03153:Alpk3
|
APN |
7 |
81,093,395 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03255:Alpk3
|
APN |
7 |
81,092,562 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03367:Alpk3
|
APN |
7 |
81,094,990 (GRCm38) |
missense |
probably benign |
0.01 |
|
FR4304:Alpk3
|
UTSW |
7 |
81,077,762 (GRCm38) |
small insertion |
probably benign |
|
|
FR4737:Alpk3
|
UTSW |
7 |
81,077,762 (GRCm38) |
small insertion |
probably benign |
|
|
IGL03097:Alpk3
|
UTSW |
7 |
81,093,909 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0092:Alpk3
|
UTSW |
7 |
81,092,553 (GRCm38) |
missense |
probably benign |
|
|
R0254:Alpk3
|
UTSW |
7 |
81,076,974 (GRCm38) |
missense |
probably benign |
0.43 |
|
R0310:Alpk3
|
UTSW |
7 |
81,078,610 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R0325:Alpk3
|
UTSW |
7 |
81,067,953 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R0387:Alpk3
|
UTSW |
7 |
81,104,227 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0971:Alpk3
|
UTSW |
7 |
81,092,579 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R1078:Alpk3
|
UTSW |
7 |
81,078,600 (GRCm38) |
missense |
probably benign |
|
|
R1146:Alpk3
|
UTSW |
7 |
81,077,595 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1146:Alpk3
|
UTSW |
7 |
81,077,595 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1168:Alpk3
|
UTSW |
7 |
81,103,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1306:Alpk3
|
UTSW |
7 |
81,093,873 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1822:Alpk3
|
UTSW |
7 |
81,076,931 (GRCm38) |
nonsense |
probably null |
|
|
R2173:Alpk3
|
UTSW |
7 |
81,076,900 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2350:Alpk3
|
UTSW |
7 |
81,094,970 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2414:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2417:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2885:Alpk3
|
UTSW |
7 |
81,100,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3004:Alpk3
|
UTSW |
7 |
81,103,355 (GRCm38) |
nonsense |
probably null |
|
|
R3796:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3797:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3798:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3799:Alpk3
|
UTSW |
7 |
81,092,753 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3894:Alpk3
|
UTSW |
7 |
81,078,390 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4395:Alpk3
|
UTSW |
7 |
81,094,955 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4761:Alpk3
|
UTSW |
7 |
81,104,168 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5505:Alpk3
|
UTSW |
7 |
81,078,561 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R5540:Alpk3
|
UTSW |
7 |
81,095,436 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5770:Alpk3
|
UTSW |
7 |
81,078,562 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5941:Alpk3
|
UTSW |
7 |
81,078,653 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5964:Alpk3
|
UTSW |
7 |
81,092,260 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6036:Alpk3
|
UTSW |
7 |
81,093,257 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6036:Alpk3
|
UTSW |
7 |
81,093,257 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6066:Alpk3
|
UTSW |
7 |
81,076,950 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6517:Alpk3
|
UTSW |
7 |
81,078,579 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R6578:Alpk3
|
UTSW |
7 |
81,078,684 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7230:Alpk3
|
UTSW |
7 |
81,093,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7266:Alpk3
|
UTSW |
7 |
81,092,580 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R7271:Alpk3
|
UTSW |
7 |
81,078,454 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7402:Alpk3
|
UTSW |
7 |
81,076,912 (GRCm38) |
missense |
probably benign |
0.29 |
|
R7411:Alpk3
|
UTSW |
7 |
81,092,852 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7454:Alpk3
|
UTSW |
7 |
81,078,562 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7468:Alpk3
|
UTSW |
7 |
81,100,998 (GRCm38) |
nonsense |
probably null |
|
|
R7940:Alpk3
|
UTSW |
7 |
81,093,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8157:Alpk3
|
UTSW |
7 |
81,093,722 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8246:Alpk3
|
UTSW |
7 |
81,092,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8357:Alpk3
|
UTSW |
7 |
81,093,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8444:Alpk3
|
UTSW |
7 |
81,057,720 (GRCm38) |
missense |
probably benign |
0.08 |
|
R8457:Alpk3
|
UTSW |
7 |
81,093,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8775:Alpk3
|
UTSW |
7 |
81,077,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8775-TAIL:Alpk3
|
UTSW |
7 |
81,077,850 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8794:Alpk3
|
UTSW |
7 |
81,057,655 (GRCm38) |
missense |
unknown |
|
|
R8982:Alpk3
|
UTSW |
7 |
81,099,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9259:Alpk3
|
UTSW |
7 |
81,093,554 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9343:Alpk3
|
UTSW |
7 |
81,092,331 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9567:Alpk3
|
UTSW |
7 |
81,092,939 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R9792:Alpk3
|
UTSW |
7 |
81,101,133 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9793:Alpk3
|
UTSW |
7 |
81,101,133 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9798:Alpk3
|
UTSW |
7 |
81,092,652 (GRCm38) |
missense |
probably benign |
0.02 |
|
RF034:Alpk3
|
UTSW |
7 |
81,092,414 (GRCm38) |
small deletion |
probably benign |
|
|
RF057:Alpk3
|
UTSW |
7 |
81,092,417 (GRCm38) |
frame shift |
probably null |
|
|
X0022:Alpk3
|
UTSW |
7 |
81,093,897 (GRCm38) |
missense |
probably damaging |
0.96 |
|
Z1176:Alpk3
|
UTSW |
7 |
81,078,626 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation