Incidental Mutation 'R7411:Alpk3'
| ID |
575080 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alpk3
|
| Ensembl Gene |
ENSMUSG00000038763 |
| Gene Name |
alpha-kinase 3 |
| Synonyms |
Midori |
| MMRRC Submission |
045492-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.328)
|
| Stock # |
R7411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
80707348-80755360 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80742600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 806
(T806S)
|
| 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: T806S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102971
Gene: ENSMUSG00000038763
AA Change: T806S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,241 (GRCm39) |
T276I |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,547,543 (GRCm39) |
I277T |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,134,280 (GRCm39) |
|
probably null |
Het |
| Abcc12 |
C |
A |
8: 87,287,479 (GRCm39) |
R122L |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,815,341 (GRCm39) |
|
probably null |
Het |
| Adam28 |
C |
T |
14: 68,864,396 (GRCm39) |
R469K |
probably damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,362 (GRCm39) |
Y243C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,791,754 (GRCm39) |
S619P |
probably damaging |
Het |
| Armh3 |
A |
C |
19: 45,953,874 (GRCm39) |
V170G |
probably benign |
Het |
| Atoh1 |
T |
A |
6: 64,706,914 (GRCm39) |
I203N |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 11,973,572 (GRCm39) |
E237G |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,074,947 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc91 |
C |
T |
6: 147,493,696 (GRCm39) |
Q363* |
probably null |
Het |
| Cdhr17 |
A |
T |
5: 17,029,763 (GRCm39) |
T500S |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,484,678 (GRCm39) |
D473E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,704,617 (GRCm39) |
D2821V |
unknown |
Het |
| Clca3a2 |
A |
G |
3: 144,507,860 (GRCm39) |
S737P |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Dnai3 |
A |
G |
3: 145,802,900 (GRCm39) |
V97A |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,345,404 (GRCm39) |
G21S |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,890,549 (GRCm39) |
N4210K |
probably benign |
Het |
| Enpp5 |
A |
G |
17: 44,392,366 (GRCm39) |
D265G |
probably damaging |
Het |
| Gabrb1 |
T |
C |
5: 72,279,538 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
A |
G |
11: 59,076,811 (GRCm39) |
F91L |
|
Het |
| Ints1 |
C |
T |
5: 139,750,015 (GRCm39) |
E961K |
possibly damaging |
Het |
| Irx2 |
T |
A |
13: 72,777,182 (GRCm39) |
M1K |
probably null |
Het |
| Jrk |
C |
T |
15: 74,579,048 (GRCm39) |
R79H |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,382,116 (GRCm39) |
V489L |
probably damaging |
Het |
| Kctd7 |
C |
T |
5: 130,181,265 (GRCm39) |
T209M |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,403,776 (GRCm39) |
V1127E |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,476,367 (GRCm39) |
H69R |
probably damaging |
Het |
| Lck |
T |
C |
4: 129,445,763 (GRCm39) |
K340R |
probably benign |
Het |
| Lrrc75a |
A |
G |
11: 62,496,734 (GRCm39) |
L276P |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,527,667 (GRCm39) |
W730R |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,570,140 (GRCm39) |
V400A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,456,899 (GRCm39) |
H906Q |
probably damaging |
Het |
| Ncl |
A |
T |
1: 86,278,564 (GRCm39) |
F673I |
probably damaging |
Het |
| Nfe2l1 |
G |
T |
11: 96,713,009 (GRCm39) |
T216N |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,835,681 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
T |
A |
4: 152,639,174 (GRCm39) |
I935N |
probably benign |
Het |
| Ntn1 |
G |
A |
11: 68,276,915 (GRCm39) |
A11V |
probably benign |
Het |
| Or2t26 |
A |
T |
11: 49,039,821 (GRCm39) |
M246L |
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,605 (GRCm39) |
V145A |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,386,980 (GRCm39) |
V16A |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,661 (GRCm39) |
Y460C |
probably damaging |
Het |
| Pcdha4 |
G |
T |
18: 37,086,111 (GRCm39) |
R98L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,398 (GRCm39) |
S234P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,240,503 (GRCm39) |
Y195F |
probably damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,511,273 (GRCm39) |
|
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Sema3a |
T |
G |
5: 13,566,230 (GRCm39) |
Y171* |
probably null |
Het |
| Set |
A |
G |
2: 29,956,897 (GRCm39) |
E22G |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,057 (GRCm39) |
D229E |
probably benign |
Het |
| Slc12a2 |
A |
T |
18: 58,074,085 (GRCm39) |
I1096F |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,954,688 (GRCm39) |
I159V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,434,013 (GRCm39) |
I275T |
probably benign |
Het |
| Speer1e |
T |
A |
5: 11,233,116 (GRCm39) |
|
probably null |
Het |
| Stradb |
A |
C |
1: 59,027,677 (GRCm39) |
D69A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,415,508 (GRCm39) |
V409E |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,328,457 (GRCm39) |
N195S |
probably damaging |
Het |
| Thumpd3 |
T |
C |
6: 113,033,072 (GRCm39) |
V270A |
possibly damaging |
Het |
| Urgcp |
T |
A |
11: 5,668,116 (GRCm39) |
H117L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,879,283 (GRCm39) |
M3408K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,828,088 (GRCm39) |
M1078R |
|
Het |
| Ypel5 |
G |
A |
17: 73,153,439 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- GCTTTCGAAACCCAATCAGAGC -3'
(R):5'- CCTGACTCAAGCCAGTTGAATG -3'
Sequencing Primer
(F):5'- CCAATCAGAGCAGTTGTCCATGG -3'
(R):5'- AGTTGAATGCCCACCAGAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation